Fabry Disease
Handbook
for Children

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CONTENTS■ Introduction■ What is Fabry Disease?
What Kind of Disease?
Fabry Disease and Genetics
Main Symptoms of Child Patients■ Diagnosis of Fabry Disease■ Treatment of Fabry Disease
Symptomatic Therapy
Enzyme Replacement Therapy■ Precautions in Daily Living■ Fabry Disease in Children
Pediatrics
Ophthalmology
Neurology
Otorhinolaryngology (ENT)
Dermatology■ When Your Child is Diagnosed with Fabry Disease■ Requests to School Staff■ Items to Stock in Preparation for Major Disasters■ Our Experiences of Being Diagnosed with Fabry Disease■ Activities of JFA■ Afterword

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Introduction
The Fabry Disease Handbook for Children, 1st Edition, was published two
and a half years ago. We at JFA have received inputs, from patients, their families
and healthcare professionals who used this Handbook, that they could improveunderstanding of the disease.
The recognition of Fabry disease is still very low. A child with the disease
is frequently absent from kindergarten or nursery school, due to fever caused
by decreased ability to sweat, severe pain in the limbs, and abdominal pain, andoften cannot attend PE classes in primary and higher schools. Many children getmentally distressed, because their classmates tend to hold a prejudice to them forreasons as described above. We have prepared a revised edition of the Handbook,hoping to have more people understand the difficulties that face patients whodevelop Fabry disease in their early childhood, and ask for enhanced support.
Therapies other than enzyme replacement therapy are underdevelopment. It is expected that QOL of patients will improve, if the disease isbroadly recognized by healthcare professionals, public health nurses, school
teachers, etc., and if Fabry disease is diagnosed as early as possible, thereby
enabling treatment to be started at an early stage.
We extend gratitude to all persons who cooperated in the preparation ofthis revised edition.
In the hope of elimination of Fabry disease from the earth
Editors
Booklet Production Project, Special Committee for Pediatric Chronic Diseases
General Incorporated Association Japan Fabry Disease Patients and Family
Association (JFA)4

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What is Fabry Disease?
Yoshikatsu Eto
Emeritus Professor, The Jikei University School of Medicine
Director, Advanced Clinical Research Center & Institute for theTreatment of Genetic Disease, Institute of Neurological Disorders◆ What Kind of Disease?

A patient with Fabry disease is not able to produce the enzyme alphagalactosidase, due to genetic reasons. This deficiency causes a type of lipid (GL-3)
to build up in vascular endothelial cells, resulting in tissue disorders throughout
the body, particularly in organs with many blood vessels (e.g. heart, kidney, andblood vessels of the brain). Large amounts of GL-3 and Lyso-GL-3 accumulate
on peripheral nerves, autonomic ganglia, etc., causing severe pain in the limbs,
hypohidrosis (decreased sweating ability) and other symptoms. Diverse clinicalsymptoms also result from accumulation in the heart, kidneys, blood vesselsof the brain caused by the disease. It is possible to prevent the onset of these
serious clinical symptoms through early diagnosis and treatment.

◆ Fabry Disease and Genetics

Fabry disease is inherited in an X-linked manner. The enzyme deficiency

is localized on the X chromosome. When born from fathers with Fabry disease,all male children are normal, while all female children have symptoms as carriers.
When born from mothers with Fabry disease, both 50% of male and female
children have symptoms. Mutation is involved in approx. 5% of cases, whichmeans that Fabry disease may occur without any other patients among relatives.

◆ Main Symptoms of Child Patients

A wide variety of clinical symptoms are observed with Fabry disease.

Clinical symptoms develop earlier in male children than in female children, and5

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symptoms are severer. On average, symptoms of Fabry disease are observed ataround six years old in male children, and at around eight in female children.
From around the age of four to five years at earliest, male children have severe
pain in the limbs, analgesia, anhidrosis, frequent diarrhea, abdominal pain andother symptoms. In adolescence, angiokeratoma and corneal opacity are also
observed. Pain in the limbs starts earlier in some female children at three to four
years of age, while many female children have no symptoms during childhood.
In around adolescence, many male and female children have spoke-like corneal
opacity. The height of children with Fabry disease tends to be shorter than
the average. In rare cases during childhood, a valvular disease and arrhythmia
are observed. Child patients also have hearing problems due to infection of
the middle ear. Proteinuria is also observed in some cases. As children age
and become adults, they have strong renal symptoms such as urine protein
and kidney failure, as well as strong cardiac symptoms including chest pain,
arrhythmia, a valvular disease, and heart failure. Symptoms are severer in malepatients than in female patients. Neuropsychiatric symptoms include headache,cerebral infarction, intellectual disturbance, and psychosomatic diseases.
Although otorhinolaryngologic (ENT) symptoms are rare during childhood, somechildren have hearing loss, vertigo, and ringing. Patients with Fabry disease haveincreasingly diverse symptoms as they become adults, including cough and otherrespiratory symptoms, and lower back pain caused by osteomalacia.

◆ Diagnosis of Fabry Disease

Characteristic clinical symptoms give a lead to diagnosis, particularly

severe pain in the extremities, anhidrosis and angiokeratoma of skin inchildhood. Verification of spoke-like corneal opacity is effective for the diagnosis
of Fabry disease. For confirmation, deficiency of the enzyme alpha galactosidaseshould be verified using serum, white blood cells, dried blood spots, urine,
etc. Diagnosis is confirmed when the accumulation of GL-3 in urine or bloodis verified. Histopathologic examination is also important, because myelin-likeaccumulated mattes are observed by electron microscopy, as pathologic findings
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in kidney and skin biopsy. Some female patients have no clinical symptoms, and
it is also difficult to verify enzyme activity and accumulated matters in blood orurine. Therefore, final diagnosis is based on family history and genetic diagnosis
in many cases.

Treatment of Fabry Disease● Symptomatic Therapy
Pain

P ain caused by Fabry disease imposes a considerable burden on

patients. Patients feel pain with burning sensation in their limbs from theirinfancy. Pain becomes particularly stronger during adolescence. Some female

patients also start to feel pain in their limbs at the age of four to five years.
Tegretol, gabapentin, and other drugs are effective.
Gastrointestinal symptoms

A bdominal pain, stomachache, diarrhea, etc. are observed.

Administration of an antiflatulent is effective. Also take care of diet.
Cardiologic symptoms

Although cardiovascular symptoms are rare during childhood, somechildren feel chest pain. Also check for arrhythmia by electrocardiography.

Cardiomegaly and a valvular disease occur during childhood in rare cases. It
is important to take an echocardiogram. In adulthood, symptomatic therapies
are performed for cardiomegaly, heart failure and arrhythmia. A pacemaker iseffective for bradyarrhythmia. For myocardiac protection, administration of ACE
inhibitor or ARB is recommended. It is important to prevent high blood pressureand hyperlipidemia. While renal disorder is rare during childhood, proteinuria isobserved in some cases.

S ome patients develop kidney failure in their teens. Proteinuria is
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observed in many male patients in their 20s. Some female patients also haveproteinuria. ARB and ACE inhibitor are said to be effective to protect kidneys.
Low-protein and low-salt diet is required. For kidney failure, peritoneal dialysis,
blood dialysis, and even kidney transplantation may be performed.

Symptomatic therapy for cerebral infarction: A child may suffer cerebral

infarction, though rarely. Take a head MRI at least once a year. For an adultpatient, aspirin or an anti-platelet drug may be administered as an anti-coagulant
therapy to prevent cerebral infarction.
OthersIn rare cases with child patients, vertigo and hearing loss are observed.

Merislon is sometimes used for vertigo, and steroids for sudden deafness.

● Enzyme Replacement Therapy

For enzyme replacement therapy, two alpha galactosidase A enzyme

preparations have been developed through genetic engineering methods to date:Agalsidase alfa (Replagal) and Agalsidase beta (Fabrazyme).

A s for when to start enzyme treatment, it is desirable to start

immediately following diagnosis for male children. This is mostly at the timeof entry into primary school. The earlier treatment is started, the better tissue
disorders can be prevented. In the case of female children, enzyme treatment
should be started at around 20 years old, if they have pain or other symptoms.

A dose is 0.2 mg per 1 kg of body weight for Replagal, and 1 mgof intravenous administration once every two weeks for Fabrazyme. Possible
adverse reactions include urticaria, chill, nausea, nasal discharge, mild bloodpressure decrease, and unpleasant sensation in the airway. These are usually
alleviated by the administration of an antihistamine or steroid. In many cases,
adverse reactions are observed three to five months after administration, andalleviate later.

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Effects of enzyme replacement therapy
1. Effects on pain: Pain tends to be relieved. Decreased sweating tends to be
improved.
2. Effects on kidneys: The accumulation of GL-3 is removed, particularly invascular endothelial cells in kidneys. Accumulation in podocytes is removed
and renal function is maintained at a normal level, if treatment is started inchildhood.
3. Effects on cardiac function: If enzyme replacement therapy is started at an
early stage, myocardial hypertrophy and left ventricular mass are reduced.
Improvement is also observed in left ventricular function.
4. Effects on cranial nerve system: Few symptoms are observed duringchildhood, except headache, etc. Early treatment prevents severer
neurologic manifestations. Early treatment may prevent cerebral infarction
and other cerebrovascular symptoms.
5. Otorhinolaryngologic symptoms: Few symptoms are observed duringchildhood, except vertigo, ringing, etc. Improvement through enzyme
treatment is not clear.
6. Ophthalmologic symptoms: Both male and female children of school age
often have corneal opacity, which sometimes gets alleviated throughenzyme treatment. Care must be taken that loss of sight may be caused byretinal artery occlusion as children get older.
7. Skin symptoms: In particular, angiokeratoma is sometimes observed
during school age. Enzyme replacement therapy seems to have little effect.
However, enzyme treatment has effect on decreased or absent sweating, and
QOL is improved through sweating.
8. Effects on gastrointestinal symptoms: It has been reported that diarrhea,
etc. are improved through enzyme replacement therapy. Diarrhea andabdominal pain tend to be improved. In any case, various symptoms caused
by Fabry disease may be prevented by starting enzyme replacement therapy
at an early stage.
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Precautions in Daily Living
Diet

Because lipid gets accumulated on vascular walls, it is preferable tominimize the intake of food that richly contains neutral fat (e.g. fatty meat,

fried food). To prevent the accumulation of lipid peroxides, eat food that richly
contains vitamins (e.g. vitamin C, B1, B2) (e.g. vegetables, fruits). It is also
undesirable to eat too much rice. Avoid taking excessive calories. Many malepatients have diarrhea. Refrain from eating
indigestible food (e.g. beans, lardy meat,burdock and other hard vegetables). Adults
have a lower level of lactase, and therefore
tend to cause diarrhea by drinking milk.
Take care not to consume too much hot
food, spices or salt. Try to get used to lightlyflavored food.
Response to various symptoms (tips on relieving distress and observing yourchild)

Pain is the most difficult for a child to endure. Children feel more

intense pain in summer due to heat. They also get sick, because they havedecreased sweating ability.

Have them stay in shades or air-conditioned rooms as far as possible,

because they cannot sweat in hot rooms or under the blazing sun. Have them
drink as much water as possible. A fever causes severe pain in their limbs.

W hen pain is excessively severe, use an antipyretic. Cool downburning sites on the limbs with towels, etc. Pain develops on various sites of the

body. While extremities are the most common sites, pain may also be felt in thestomach, lower jaw, back, and other parts of the body. While the administrationof Tegretol is the most effective, it is also helpful to apply Loxonin tape, etc. Somepeople experience side effects of Tegretol. The side effects include rash, urticaria,
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weariness, drowsiness, liver dysfunction, and blood disorder. Avoid the excessive
taking of Tegretol, Loxonin, etc.
Response to other diseases (e.g. influenza, appendicitis)

Patients with Fabry disease need to take care of infectious diarrhea

and other diseases in summer. While diarrhea frequently occurs as a symptomof Fabry disease, viruses of summer cold (e.g. ECHO viruses, Coxsackie viruses,
Adenoviruses) cause diarrhea as a cold symptom. Care must also be takenof bacterial diarrhea caused by food poisoning bacteria (e.g. Campylobacter,pathogenic E. coli). Children frequently have abdominal pain. Sometimes,
assumed common abdominal pain of Fabry disease actually turns out to be
appendicitis. Ileus and other serious diseases
are also possible. Consult a doctor in the caseof severe abdominal pain. In winter, influenza
and other diseases often cause fever. Feverenhances intense pain. However, it should be
avoided to use excessive antipyretics during
influenza, because it increases the risk ofinfluenza-associated encephalopathy. Pursue
early diagnosis, and use influenza-specificmedicines.

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Fabry Disease in Children
Pediatrics
Masahisa Kobayashi
Lecturer, Pediatric Research Course, The Jikei University School of
Medicine
Ward Director, NICU

Fever and pain in the extremities are the most frequent symptoms inpatients with Fabry disease. Almost all male patients with classical Fabry disease
experience both fever and pain in the extremities before and during school age.
Fever is caused by decreased ability to sweat. In particular, patients do not like
exercising on hot days, because heat tends to build up on hot summer days.
They tend to prefer exercising in winter. Pain in the extremities is the hardest
symptom for patients. Due to the absence of objective scales, their symptoms are
sometimes confused with rheumatic diseases, gout, psychosomatic diseases, or
malingering, adding to the suffering of patients. Many patients complain about
attacks of "burning pain," which are said to be exacerbated by temperaturechanges, fever, physical exercise, fatigue, stress, and other causes. Patients
become depressed due to this pain, and sometimes even commit suicide inseverest cases. For fever, ambient temperature (room temperature) needs to be
adjusted by air conditioning or other means, because patients are incapable ofthermoregulation due to decreased sweating ability. For pain in the extremities,
carbamazepine, gabapentin and other antiepileptic drugs are considered to beeffective. To minimize exacerbation factors such as elevation of body temperatureand changes in ambient temperature, it is recommended to use air conditioning,
prevent bathroom temperature from rising too high, and use adequate protection
against the cold in winter in order to avoid sudden contact with the cold outsideair.
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Diarrhea and abdominal pain are also relatively frequent symptoms
that are reportedly observed in more than half of male and female patients.
Abdominal pain tends to start in younger ages, at around ten years old. Compared
to abdominal pain, diarrhea tends to start later, at 20 years of age or later. The
frequency of diarrhea rapidly rises after 30 years old. These gastrointestinal
symptoms often follow meals. This often causes patients to eat less, resulting
in the loss of appetite and weight. For these gastrointestinal symptoms,
symptomatic therapies are performed including the internal administration ofantiemetic drugs, gastrointestinal analgesics and antispasmodics, antiflatulents,
etc. However, the treatment effects of these drugs are unknown, and no clearly
effective therapies are available at present.

Ophthalmology
Satoshi Goto
Lecturer, Ophthalmologic Course, The Jikei University School of
Medicine
Visiting Lecturer, Omori Medical Center, Toho University
Part-time Lecturer, Ophthalmology, Tokyo Women's Medical
University
Part-time Lecturer, Ophthalmology, Juntendo University Urayasu
Hospital

Ophthalmologic effects of Fabry disease are relatively insignificant.
Vision may be impaired in the case of cerebral infarction or vascular disorders ina nerve membrane in the eye called "retina." However, vision impairment is very
rarely caused by corneal verticillata that is well known for Fabry disease, or by
Fabry cataract.

I t has been reported that corneal opacity caused by Fabry disease
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develops by the age of four in male children, and by ten in female children.

There are no particular precautions in daily living. If a child suddenly
loses vision, cerebral infarction or retinal vascular disorders are possible.
Consult an ophthalmologist near you. It is rare that visual impairment develops
in both eyes. Cover one eye at a time to confirm low vision. Fabry disease is not
associated if low vision has been caused by hitting an eye on something.

C orneal verticillata occurs on a relatively superficial layer, andtherefore is not considered to affect endothelial cells at the back of the cornea.
Detailed long-term ophthalmologic course of patients with Fabry disease has yet
to be identified. If child patients get older and want to put on contact lenses, mypersonal opinion is that they may, on condition of careful follow-up observation.
Of course they need to carefully handle contact lenses, just as normal children
do. When there is unpleasant sensation in the eye, glasses should be used insteadof contact lenses. It should also be avoided to go to sleep before taking off lenses.
There are different opinions concerning when treatment should be started. It is
recommendable to seek regular prescription and follow-up observation throughconsultation with an ophthalmologist.

Neurology
Masaru Kawano
Head of Neurology, Fuji City General Hospital

P atients with Fabry disease complain about headache from theirchildhood relatively frequently. However, the frequency and characteristics oftheir headache have yet to be clarified. It often occurs that headache of patients
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with Fabry disease is misdiagnosed as truancy or a psychosomatic disease.
There are various causes for children's headache. There is no type of headache
specific to Fabry disease. In most cases, it seems to be tension headache that only
requires follow-up observation. However, there are rare cases where children in
their adolescence have a cerebrovascular accident (e.g. cerebral infarction, whitematter lesion). In other cases, it is important to effectively ask questions to yourchild when s/her complains about pain, in order to avoid missing a migraine,
meningitis, etc. Did pain start suddenly? Did it grow gradually? Do you have afever or runny nose? How long does pain continue? Where does your body hurt?
All over your body? Around the temples? Did you see sparkling dots or hearlarge noise before pain started? Do you feel nauseated during pain? Can you
shake your head from side to side? Can you nod? Is there a problem in moving
your arms and legs?

In the case of a migraine, it is commonly observed that 1) it starts
suddenly, 2) without a fever, 3) continuing for about an hour, 4) around thetemples, 5) preceded by signs, and 6) often involving nausea. In the case ofmeningitis, 1) headache grows gradually, 2) with a high fever, 3) hurting
continuously, 4) all over the head, 5) with no preceding signs, 6) involving
nausea, and 7) making it impossible to nod due to severe pain. If 8) there is aproblem in moving the limbs, a lesion may have occurred in the brain. In any of
the cases above, consult a specialized doctor at an early stage.

Otorhinolaryngology (ENT)
Yuka Sakurai
Otorhinolaryngology, Jikei University Hospital

O torhinolaryngologic symptoms of Fabry disease include hearing
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loss, ringing, and vertigo. Hearing loss typically starts at around 30 years old,while ringing is reported from a relatively younger age. It must be noted that
infants very rarely complain that they have a ringing in their ears. Suspect thatyour child may have ringing when s/he expresses "I hear a strange sound," "Myears screech," etc. Ringing usually develops together with hearing loss, but issometimes perceived without it. First, it is required to confirm whether or not thechild has hearing loss. It is recommended to take a hearing test in a departmentof otorhinolaryngology (ENT).

A lthough hearing loss starts past 30 years old in most cases, apossibility of hearing loss during childhood cannot be denied. It is characteristic
to hearing loss caused by Fabry disease that it proceeds gradually, with repeatedsudden and rapid deterioration. Children complain about hearing loss in a variety
of expressions. Suspect hearing loss when your child complains, "I cannot hear,""My ears are plugged up," "I hear sounds strangely," "I hear a strange sound in
my ears (in which case suspect ringing)," "My ears feel strange," etc. In addition,even if the child him/herself complains about nothing, hearing loss is also
possible when the child does not turn around when s/he is called to, asks again
many times, pronunciation is incorrect, or volumes up TV excessively. If any such
symptom concerns you, it is recommended to take a hearing test in a departmentof ENT. Vertigo may also occur during childhood. There are various possible
causes for vertigo, including an inner ear problem, cerebrovascular accident, andautonomic symptom. Vertigo is suspected when a child staggers, cannot walkstraightly, or tumbles frequently.

W hen hearing loss deteriorates rapidly, hearing ability may be
improved by receiving treatment similar to that of sudden deafness. In somecases, hearing is not be recovered even through treatment. Treatment of vertigo
varies by its cause. There is no specific medicine for ringing. Unless daily living
is substantially disturbed, only follow-up observation is performed. If a patient isextremely distressed by ringing, a symptomatic therapy may be performed (e.g.
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administration of a tranquilizer).

Dermatology
Arifumi Ota
Head of Department of Dermatology, The Jikei University Katsusika
Medical Center
Associate Professor, Dermatologic Course, The Jikei University
School of Medicine

Fabry disease was first reported by a German physician, Johannes
Fabry, in 1898. Small hemangiomas (dilated blood vessels to be exact) thatinvolve hyperkeratosis in the cornified layer diffusively develop in the trunk.
This symptom is therefore called "angiokeratoma corporis diffusum." Thisangiokeratoma is characteristically distributed in a swimming-suit shape, acrossthe lower abdomen, thighs, external genitals, and buttocks, but it sometimes also
occurs in the limbs. The size of petechia ranges from small red dots to 5-mm
red spots. The redness may be thickened or thinned depending on blood flow.
Angiokeratoma usually starts in the teens, and the number and size of dots/
spots gradually increase. The number exceeds several hundreds of thousandsat largest, but may be fewer than 30 at smallest. Many patients develop nohemangioma at all. Patients suffer decreased sweating ability from theirchildhood, and sometimes have a heatstroke. These skin symptoms are caused
because globotriaosylceramide builds up in lysosomes in vascular endothelial
cells and dermic cells in the skin, just as in kidneys, causing dilation of capillaries
and secondary hyperkeratosis on the same site. Because sweat glands arealso impaired by intralysosomal accumulation, patients suffer hypohidrosis oranhidrosis (decreased or absent sweating). On the other hand, patients withhyperhidrosis (excessive perspiration) have also been reported.

F abry disease cannot be diagnosed based on skin rash only. It is17

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not possible either to distinguish it from other lysosomal storage diseases
that manifest diffuse angiokeratoma in the trunk. While findings by electron
microscopy are also important, it is required to measure enzyme activity (alphagalactosidase A activity) using plasma or white blood cells.
(Reference) Kanzaki, Tamotsu. Updated Compendium of Dermatology 10:
Endocrine and Metabolic Disorders (Carbohydrate Metabolism and Fabry
Disease). Tokyo, Nakayama Shoten, 2003. pp.74-77.

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When Your Child is Diagnosed
with Fabry Disease

It is very natural that you get taken aback at a disease name that you
have never heard of, but keep your calm and accept the fact. Understand that thisis a genetic disease, and check if anyone in your family or among relatives has
similar symptoms. If there is someone who has similar symptoms, it is necessary
to notify the person of the possibility of Fabry disease, but this is by no means
an easy task. Reaction varies by person, from accepting at once to horrified
rejection. To your child who has been diagnosed with Fabry disease, tell that thedisease has been identified and there are available therapies in a positive manner,
after suffering from various symptoms without knowing the disease name or
how to treat it. If the child has siblings, they may also be patients. Girls usually
have milder symptoms. The Japan Fabry Disease Patients and Family Association(JFA) also provides various information. Do not get scared or depressed based onincorrect knowledge.

■ Tips on daily living
At homeSymptoms vary by child. Take care to minimize your child's distress.

Children who have decreased sweating ability feel pain when it is hot. Use air
conditioners and keep it cool for your child. They also tend to have diarrhea.
Avoid food that contains many additives, and make a point of well-balanced
meals.

At school

Temperature in a classroom is not always appropriate for your child.

Consult school staff for a well-ventilated seat, uniform arrangements, stocking
dedicated cold packs in the school infirmary in summer, and other considerations.
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In particular, commuting and PE classes in summer should be tough for a childwith Fabry disease. It is also necessary that the child, his/her guardians, andschool staff should adequately discuss procedure to be taken in response to an
episode of pain in the limbs, etc., as well as administration of medicines. It is notpossible to deposit Tegretol or other analgesics with a schoolteacher and haveit provided to a child in the case of a pain attack, due to violation of the Medical
Practitioners Act. If your child has not yet gotten familiar with taking Tegretol,
etc., ask a school nurse to observe him/her while taking it in order to prevent an
accident. Your child is ultimately required to manage his/her health conditions
by him/herself. It is important to teach your child how to handle medicines andmanage their health from an early stage, under the direction of a doctor.
In higher school years, your child may find that s/he cannot do thesame activities as his/her classmates, or feel irritated or anxious because s/hecannot do what they want to do, during field trips, school excursions, athletic
meets, hiking, studies, etc. It distresses a child both mentally and physically,
more than anticipated, to have a disease while acting in groups. It is importantto respect your child's feelings, and prepare an environment that helps his/herlearning, including participation in school events within a reasonable range.
School is an important place for children where they spend more than half of theday. Your child may still have some distress from time to time. Make necessary
arrangements so that your child can report his/her condition and feelings
to school staff or guardians without hesitation, and that adequate support isefficiently provided.

■ Learning

Some children need to frequently leave early or be absent from school,

due to hospital visits and poor condition. Even home learning is difficult dependingon their condition, causing a serious delay in learning. Frequent absence gives
rise to concerns and stress that they cannot go to school, cannot play with theirfriends, lag behind in studies, and so on. Delay in studies affects the selection ofcareer path in the future. Therefore, it is necessary to devise how to recover the20

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delay at school or at home. The amended Act for Special Support for Children
with Pediatric Chronic Diseases searches for solutions to this problem. Look up
and utilize support from the relevant public organizations.

■ Care during adolescence

It is difficult to accept our own disease even in adulthood. Even healthy

children become hard to please during adolescence, and often disobey theirparents and rebel against society. Especially children with a genetic diseasesuch as Fabry disease are faced with many concerns about their health, higher
schools, employment, marriage, giving birth and other future events, as well as
problems that are difficult to resolve. Guide your child so that they can consult
many people for ideas and resources when they hit the wall, and help themdevelop capabilities to examine and resolve problems. Also consider leveraging
public services.

Requests to School Staff

Fabry disease is a genetic disease. It is difficult to identify children
with Fabry disease by appearance, because they look just like normal children.
However, they get tired extremely easily, and report episodes and sickness
depending on the weather or physical condition of the day. In almost allcases, they report sickness suddenly, which often causes other children to
misunderstand that a child with Fabry disease is trying to play truant or
neglect classes, because s/he looked just fine until a little while ago. Sometimes
classmates actually say so to the child. When such experience is repeated,prejudice or bullying may result. A child with the disease often makes efforts
to do the same activities as others, but fails. A child gets caught in a dilemma
through such experience, resulting in reluctance to make friends, stressful school
life, and hardships that mentally hurt the child.
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Children with Fabry disease are making best possible efforts to accept
their physical condition and the situation in which they are placed, and to do
whatever they could do in that situation. School staffs are requested to takereasonable considerations to respect a child's will and intention in school eventsand activities. Please focus on the personality of a child, rather than his/her
disease, by acquiring the correct understanding of Fabry disease, instead ofgetting scared of it. It is sincerely requested to motivate a child to learn, andto develop his/her good points and strengths leveraging teachers' skills andexperience. A child with a disease tends to fail in developing self-esteem. For achild to have a delight and fulfilling school life, understanding by teachers andfriends is indispensable.

Guardians of a child send him/her out to school every day, filled withconcerns about their child's possible sudden sickness. This does not mean thatthey want their child to be overprotected. They hope that their child can safely
stay and learn at school, in harmonization and cooperation with other children.
While some special considerations may become necessary from time to time, it
is requested that school staff should treat a child with Fabry disease in the samemanner as other children as far as possible. To this end, all teachers and related
persons at school are sincerely requested to understand and support a child with
Fabry disease.

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Items to Stock in Preparation
for Major Disasters■ Stock of medicines and medications

At the time of earthquake or other disasters, medicines will become

difficult to obtain, because prescription sheets are not available due to thecollapse of hospital buildings or interruption of transportation network,or because pharmacies are closed down due to the evacuation of staff.
Through consultation with the doctor in charge, keep a relatively large stockof prescription medicines that are critical or indispensable. Also select a
dispensing pharmacy near your home, andmaintain communication on a regular basis, sothat information may be provided concerning anearby hospital where necessary medicines could
be prescribed. Also be sure to keep records of
medicines in a medicine notebook. This expedites
information exchange.

■ Necessities for thermoregulation

At the time of disaster, life in a shelter is likely.

Thermoregulation is the most difficult among other problems.
A child may become ill due to failure in thermoregulation. It
will be helpful to prepare a blanket, heat packs, a raincoatand rain gear, and towels with high water retention for cooling down the body.
("Shammy towels" for swimmers are excellent for this purpose. When tightly
squeezed and dried, they do not generate damp smell.)

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■ Evidence that you have an intractable disease

In a shelter, you need to spend many days together with a large numberof people. You may have to explain that you have an intractable disease, inorder to ask for cooperation and considerations from other people. At the timeof disaster, information management systems of municipalities will also get
confused and non-functional. Carry a note that indicates information of your
medical card, prescribed medicines, contact information of your hospital, etc. A
child patient may find difficulty in effectively communicating or reporting that s/
he needs help from adults. To prepare for such cases, it will
be helpful to have a child carry a "help card" that indicatesminimum necessary information and the need for support. A
note or card of a size that can be put into a wallet is easy tocarry with you or your child all the time.

■ Contact means among family members

If a disaster occurs during the day, it is expected that family members

find shelters in different locations. On a regular basis, discuss and confirm
contact means among the family members. It is said that carrying a photo thatshows the faces of all members is useful when you need to look for family
members who evacuated separately. Saving such a photo in a mobile phone may
not be useful due to dead battery. It is strongly recommended to carry a printed
photo with you.

■ Others

You may feel reluctant to buy a gasoline can, because it is of no use inyour daily living. However, an automobile is a critical means of transportation
for a person with a disease. At the time of disaster, most afflicted people suffer
extreme difficulties both mentally and physically, and need to cooperate witheach other to endure an extended period of time. You may find it difficult to24

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disclose that you have an intractable disease, and ask for support or cooperation.
You may not want to have your disease known to other people. However, it isextremely demanding to, for example, queue up for rationing of water or goods.
You may also be asked to participate in restoration work. If your disease is notshared with other people, you may be faced with such physically demanding
situation. It is also said to be acceptable to consult private volunteers and welfare
volunteers about these problems. Take into account the risk of getting ill during
life in a shelter, and think in advance what you should do when you or yourfamily are faced with difficulties.

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Our Experiences of Being Diagnosed with
Fabry Disease
Experience essays were contributed by patients in various age groups.
Contributors report what they felt and experienced in diverse backgrounds, andtheir essays are summarized under different themes. Their stories and feelings
may differ from yours or your child's, but hopefully may be of any help for you.
(March 2015)

Symptoms in childhood and what I feel now◆ Female, 20s
I guess obvious symptoms of Fabry disease started at aroundnine years old, when I was in the fourth grade of primary school. I
had practiced ballet from three years old. In the fourth grade of primary school, I
felt severe pains in my hands and feet after dancing in summer. I did not feel that
I could no sweat well, but my face flushed, and my body temperature did not go
down until cooled with ice, after dancing in summer. Pain in my hands and feetoccurred not only after ballet and other heavy exercises, but also when I had afever. Pain was caused merely by touching futon. I barely went to the bathroom
on my hands and knees, so that my soles would not touch the floor. My motherthought something was wrong, and we together visited many hospitals, but all
doctors said that it was my imagination, or that they had no idea. No cause was
identified in those days. The extent of pain was not so severe as to affect my daily
life during primary school. When I became a junior high school student, terrible
pain started after walking outside for about ten minutes in summer, making it
difficult for me simply to walk. My hands and feet were always hot even in winter.
I could no longer participate in PE class in any season of throughout the year. It
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had not yet been identified that I had Fabry disease. I had a medical certificate
issued for another disease, and had to observe PE class. Because the cause was
not very clear, classmates who disliked PE were often sarcastic to me, assumingthat I was playing truant. It was spring of sophomore that the possibility of Fabry
disease was pointed out. I visited an ophthalmologist to use contact lenses, who
issued me a referral letter to a university hospital, saying that I had something
in the cornea. The ophthalmologist at the university hospital whom I consulted
said that I had characteristic opacity in the cornea, which was only observed inpersons with Fabry disease, or persons with the history of taking medicines forheart disease. Later, when I was a senior, I contacted by myself a pediatrician at auniversity hospital that had specialists in inborn errors of metabolism.
Genetic testing was conducted immediately after I consulted the doctor,
and I was confirmed to have Fabry disease. At present, I am receiving enzyme
replacement therapy. I was physically weak by nature, and was often admitted
into and discharged from hospitals for other diseases until I entered primaryschool. Therefore, I did not find the symptoms of Fabry disease extremely
difficult in those days. After I entered junior high school, pain in my hands andfeet escalated, affecting my daily life and finally forcing me to quit ballet, which
I loved so much. I was extremely sad to have to give up what I loved so much,without knowing reasons. When I was diagnosed with Fabry disease, I was morerelieved for finally knowing the cause for what had been continuously wrong
with me, than becoming concerned about the disease.

◆ Male, 40s
After the onset of Fabry disease was identified, my parents told
me that they had taken me to a local hospital during my infancy,
because I frequently had a fever and did not sweat. At that time, the doctor could
not identify the disease, and recommended my parents to keep the unknown
disease from the child. As a result, I had not recognized that I had a disease. Due
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to hypohidrosis, I could not control my body temperature, and my face flushed.
Classmates and teachers often asked me if I was okay, which made me feel as if
I was specially treated. Thanks to this sense of superiority, I never had mental
distress. (At least, I did not feel any. LOL. My mother always told me that I could
not control my body temperature due to absent sweating, and that therefore I
should report to teacher when I became ill, and rest in shade after pouring waterover my head. I was also feeble by nature, and did not feel anything special
about it. During my infancy, severe pain occurred in my hands and feet when I
had a cold, and I sometimes even got cramps. I had also assumed that cramps
occurred to everybody, and thought that cold was a difficult disease. Because I
could not sweat, I thought that I should study hard, so that I could work in an airconditioned room in the future.

◆ Male, 30s
Symptoms that I had were 1) Pain in hands and feet, physicalburden caused by anhidrosis, and hemangioma during primary school;2) diarrhea (probably I had kidney failure) and weariness in addition to 1) fromjunior high school; 3) cardiomegaly and declined renal function in addition to 1)
since 25 years old; and 4) chronic kidney failure, peritoneal dialysis, and kidneytransplantation in addition to 1) after 35 years old.
I also have pain in my hands and feet as primary symptoms, but I amliving a social life without a problem through disease control with medications.
Mentally, I think I am calmly living with this disease without worrying too much,owing to increased patience, control with medications, and information provided
by the doctor and JFA.

◆ Female, 30s
In my own infancy, I could not report pain or need of water, due
to an education policy that emphasized patience. Therefore I could
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not ask for help, but only had to endure to the limit. After an outline of Fabry
disease was known, considerations are taken so that I can rest or drink water
immediately when I have pain.
I suppose that anybody sometimes attribute mental difficulties to thedisease. Recalling my adolescence, I often said that I could not or did not want todo something, due to various reasons. I believe that this reaction is characteristic
to adolescence, whether or not a person has a disease, and can only observed.
It may help to focus on an individual child or an individual person, rather thanfocusing on the disease itself.

◆ Female, 40s
Since my infancy, I often had a fever, and suffered abdominal
pain and severe pain in my hands and feet. My two brothers, whowere older than me by ten years or more, as well as my mother, were also
suffered from pain in their feet. The doctor in charge of my brothers suspected
my Fabry disease in a lower grade of primary school. Therefore, I recognized mydisease, and took care to control pain from getting severer during outings andschool life. When I was small, I thought it was not fair that I had to suffer fromsuch excruciating pain. I was sometimes enraged by my useless body. As I grewup, going through bitter feelings and experiences, my way of thinking graduallychanged positively, that it would work out somehow, and I should definitely live
without regret, doing what I want to do, because my disease would not cure andlife is short.

◆ Female, 60s
In our case, the disease was caused by mutation. My 37-yearold son is a patient. When he was in the first grade of primary school,
he was a goal keeper in a local football team. There were several cases where,
during mid-summer games, his face flushed, had a fever, and went home in29

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the middle of the game. He often had a slight fever and his absence increased,
forcing him to quit football.
I believe he must have been disappointed, because my son liked doing
exercises. He started to complain about pain in his feet in the third to fourth grade.
Our family doctor (pediatrician) said that it was growing pains, and asked questions
suspecting truancy. I consulted with other mothers who had boys, but we remainedin uncertainty without knowing a clear cause. In the second term of the first gradein junior high school, we visited a university hospital that was established nearby,
submitting a referral letter from the family doctor. After almost one month, my son
was confirmed to have Fabry disease. Subsequently, he started to take analgesics.
He did not speak a lot during his adolescence in high school. Although his attitude
was sometimes disobedient to the doctor in charge, the doctor always responded
to my son in the same manner without changes, for which I am still grateful. Fabry
disease is a rare disease, and there were no therapies back in 25 years ago, norwere seminars or JFA. I did not have adequate knowledge or understanding of
the disease, either, and could not explain the disease in detail to school teachers.
I suppose teachers were also at a loss how they should treat my son. We knew of
any other patients, and could merely depend on the doctor in charge. We always
lived with worries about the disease.

◆ Male, 20s
I did not sweat since I was a kindergartener. When it was hot,heat accumulated in my body, and my hands and feet ached. (Looking
back,) I also often had diarrhea, which suggests that I had gastrointestinal
disorders to some extent. Until I was diagnosed with Fabry disease in the second
grade of high school, I merely assumed that it was my natural constitution.
Because classrooms in primary and junior high schools were not equippedwith air conditioners, I stayed in school infirmary during almost all classes.
Although I am receiving enzyme replacement therapy at present, only very subtle
improvement has been seen in perspiration.
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◆ Male, 10s
Since around the fourth grade, numbness starts in the evening,and develops into tingling pain in my hands and feet. I sometimes
feel nauseated when I wake up in the morning. I feel refreshed after
vomiting, and nausea does not last. I also have abdominal pain on some days,
but do not need to be absent for that reason. I started to receive infusion therapy
when I was in kindergarten. Because my mother has persistently told me to takecare of my health by myself, I rarely left pain until it became very severe, except
when I had a bad cold or influenza. I take medicines in advance when I perceive
something strange.

◆ Female, 40s
In our case, my son was diagnosed with Fabry disease at first.
My elder brother had also suffered from the same symptoms formany years. My brother visited various hospitals since his childhood, and wastested in university hospitals, but the disease name was not identified. My son
gradually developed symptoms similar to those of my brother, and was examinedin large hospitals, but his disease name was not identified, either. When my son
was finally diagnosed with this disease, after my repeated requests, I was morerelieved that there were therapies, than any other feelings.

◆ Female, 70s
I guess symptoms of Fabry disease started when I was in thefifth grade of primary school. It was shortly after World War II, andmy family was poor. It was difficult to visit a large hospital in those days. I had
severe pain in my hands and feet, and its cause was never identified. Only aspirin
was prescribed when I had pain, and all I could do was endure while cooling myhands and feet and other parts of the body with ice. Pain gradually eased down
after I started working and became older than 40 years of age.
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Feelings to family◆ Female, 30s
My 11-year-old son was present when definitive diagnosis was
issued. The explanation of test results meant definitive diagnosis.
Partly due to lack of my considerations, my son suddenly came to know his
disease without adequate prior information or emotional preparation. When the
disease is known after a child becomes a certain years of age, I suppose caremust also be taken of notification of the disease in its true sense (acceptance by
the child). To this end, parents are seeking information from various sources,
and sharing it, as their daily efforts to facilitate notification of the disease in its
true sense (acceptance by their child). Presumably many persons feel the mostdifficult until definitive diagnosis is issued. Therefore, support during that period
would be extremely important. Based on the regret from diagnosis of my son,
I asked a genetic counselor to accompany my daughter's genetic testing, andparticipate in explanation. When I ask her about what she felt at that time, shesays that she could feel nothing would change even if she had Fabry disease.
Reaction would vary by the type of a child, but these arrangements seem to haveworked positively for my daughter.

◆ Female, 20s
I looked for a specialist by myself, and applied for genetic testing
and certification of a specified disease without consulting my parents.
My Fabry disease was probably inherited from my father. However, my father andmother were divorced shortly after I was born, and I have never met my father.
When I was small, I always complained about severe pain in my hands
and feet whenever I had a fever. My mother watched me and said that my father
also complained about pain in his hands and feet when he had a fever. Thiswas one of the causes that I strongly suspected Fabry disease. Even after it wasverified that I had Fabry disease, my mother seems to be refusing to accept thedisease itself, saying "I cannot understand difficult things." I do not want to worry
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my mother as far as possible. If she cannot understand the disease, she does
not have to. I would like to resolve all issues concerning the disease and makedecision by myself, as far as possible.

◆ Male, 20s
I always had relationships with hospitals including
hospitalization, and my mother always accompanied me. Therefore,
I had no particular problem with diagnosis or treatment. My mother and I wereboth rather pleased at diagnosis, because it meant that there were therapies.

◆ Male, 40s
It was when I was 26 years old that I was diagnosed with Fabry
disease. I took a health check before purchasing a life insurance
policy. Because urinary protein was identified in the check, I was recommended
to take kidney biopsy, which led to my definitive diagnosis. At that time, I cameto know the cause for symptoms in my body, including absent sweating. Urinary
protein had started in my early 20s. I sometimes accused my parents, because I
thought that some measures could have taken if I knew that I had Fabry disease.
Subsequently, the administration of Fabrazyme was started, and proceeded todialysis. At present, I am thankful to my parents, who frequently visited lecturesconcerning Fabry disease, made many researches, and donated a kidney to me
through transplantation.

◆ Female, 60s
My son was 12 years old when his diagnosis was confirmed. I
had always suspected that something was strange about his health.
When it was verified that he had a disease, I was partly convinced at the fact, andwas partly shocked by the disease name that I had never heard of. I immediately
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contacted a son of my cousin in Hiroshima, who was a pharmacist, and asked him
to research about the disease. A professor at Hiroshima University knew about thedisease, but had never examined a patient with the disease. My son himself showedno particular changes in his feelings after knowing about the disease, probably
because he could live a normal life depending on his condition. My husband and I,
as well as our son's grandfather, tend to be preoccupied by our son's disease. Thismay have caused our daughter, older by two years, to feel lonely.

◆ Female, 70s
In my case, my father was dead in war when I was small, andmy mother told me that he had symptoms similar to mine. Although
I did not know about Fabry disease at that time, I vaguely suspected
heredity, and sometimes had a grudge against the late father. About
ten years ago, my daughter and grandchild were confirmed as having Fabry
disease, and subsequently it was also verified that I and both of my two sons also
inherited the disease. Unlike my old days, we were told that there were therapies.
We were immediately certified for the disease, treatment was started. I still regretthat my children and grandchild also inherited the disease. I simply wish that the
day would come when this disease could be completely cured.

◆ Female, 40s
My father had died by the time of my definitive diagnosis. I was
relieved that he died without knowing that Fabry disease was inheritedfrom my mother to me and my child. My mother was repeatedly
admitted to and discharged from hospitals since I was small, and often
suffered from unknown headache. Therefore, I knew the difficulty of having an
unknown disease without therapies. Because of this experience, I was rather
relieved when my child was diagnosed with Fabry disease, and it was told that
there were therapies.
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◆ Male, 10s
I think it cannot be helped, because I have a disease. There is no
use thinking about it, so I just accept it. I sometimes get mad when
pain is too severe, but I get along well with my parents.

◆ Male, 30s
I had no special feelings about my parents when I was confirmed
to have Fabry disease. Because my parents and I visited so many
hospitals until definitive diagnosis was issued, we were relieved that thedisease was identified. I sometimes blamed my parents and grandmother in
my adolescence. However, now that I have found a job, got married, and had achild, I have no idea of blaming them. Rather, I am extremely grateful that theyfrequently accompanied me to hospitals, made explanation to school teachers,
apologized, and donated a kidney to me for transplantation.

◆ Female, 40s
I did not blame my parents for the inheritance of the disease,but may have taken it out on them when I was being attacked bypain. My mother, as well as both of my two brothers, who were much older thanme, all had the same symptoms, at a far severer level. Whenever I suffered fromattacks, my mother apologized to me, saying, "This is my fault, I'm sorry." Thisrather irritated me, and I thought that it was useless she apologized many times,
because she could do nothing.
When I decided to live apart from my parents to go to a higher school,
my mother cried and said, "I want you to stay by my side. You have a disease, and
it is impossible that you live by yourself." I hated this, feeling that she was being
possessive because of my disease, and I did not speak to her for about one month. I
argued with my parents many times, and now I am grateful for their worries aboutme. I believe that my persistence must have developed through these arguments.
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LOL. This disease was also inherited to their grandchild. I always talk to my parents
living far from us by phone, and relieve them that we are doing fine. When myson was five years old, both he and me were confirmed as having Fabry disease.
He was not old enough to understand everything, but I gradually told him manythings, including future risks, after he started to receive treatment. We frequently
talk about our disease in our daily life. He relieves me, saying, "This is not anyone's
fault. You do not have to worry, because pain can be controlled by medicines."
However, he still hates IV drips, because it is painful when an injection needle isinserted. Treatment needs to be continued over a long period of time. I hope thata needle that causes less pain or a painless therapy should be developed, so thatphysical and mental sufferings of patients could be improved to some extent.

Care in daily living◆ Female, 40s
Unlike normal children, I could not play outside in hot season.
Therefore, I made efforts in activities that could help me and develop
my confidence in my future.

◆ Male, 40s
In my case, anhidrosis is the most difficult symptom, andtherefore I avoid hot places as far as possible. Whenever I feel mybody temperature rise, I cool down my body with water, and take a rest. I also
notify my disease to people around me, asking, "Please help me when my face isflushed, because I cannot sweat."◆ Male, 10s
During PE class in summer, I wash my head under a water tap,and sometimes put wet Shammy towels around my neck or under my36

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arms. I take medicines when I feel a sign of pain start.

◆ Female, 20s
I suppose symptoms vary by patient. In my case, even after
I became older, pain starts in my hands and feet when it becomesa little warm. In particular, taking a bath causes extreme pain. Therefore, I
avoid soaking in hot water throughout the year, and use shower set to lower
temperature. During hot season, I need to cool down my whole body with cold
water after exercises. Otherwise, a high fever starts, or my body cannot move at
all due to severe muscle pain, on the following day. Therefore, I make it a rule
to cool down the back of my neck, arms, hands and feet with cold water, after
arriving at school and coming home during summer.

◆ Male, 30s
In summer, I stay in a somewhat air-conditioned environment,
where a certain level of tension is maintained. I have experience that
I could endure pain better and my mind was calmer, while I was at the hospital
waiting for examination. When I have pain, I take a medicine (Tegretol, etc.),
and measure how long it takes until it takes effect. This enables me to feel calm
and avoid panicking, even when I have pain. When I go out in summer season,
I always carry a plastic bottle containing mineral water, and pour it in small
amounts to continuously wet and cool down the parts of my body where arteriesrun (e.g. left and right sides of the neck, groins, under the arms). I think this had
some effect, because my body was slightly deprived of the heat of vaporization,
thereby lowering my body temperature. Because diarrhea became frequent due
to renal impairment that started later, I identified the locations of lavatories incommutation routes, etc.

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◆ Female, 40s
I make all possible efforts, including preventing a cold, taking
influenza vaccination every year, taking a cold medicine or painkiller
whenever I have a suspicious sign, always carrying a towel to cool down mybody (which could also be used for warming my body), never forgetting to drink
water, taking nutrients (e.g. amino acid, citric acid, supplement) when I feel tired,choosing shoes that release heat and impose less burden (I sometimes have afever due to external stimulation caused by sandals that have small inner bumps,
for example), and avoid pushing myself too hard. I never forget to do exercisesthat I can do, in order to develop my physical strength.

◆ Female, 30s
To prevent pain from starting, I always keep our home cool.
When my son was in a lower grade of primary school, he became illoutside and I carried him on my back to a remote parking lot. It was a terrible
experience, because my own hands and feet also started to ache on the way.
Based on the lesson learned from this experience, I make it a rule to check up anearest possible parking place before we go out.

◆ Male, 20s
It is an iron rule to avoid hot places whenever possible. I always
carried antipyretics and analgesics in preparation for a sudden
fever. I make proactive efforts to explain my disease and its symptoms to earn
understanding from people around me, so that I will least annoy them when I get
ill.
◆ Female, 60s
My child often had a slight fever when seasons changed. Now I
know that his normal temperature was relatively high due to inability
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to control body temperature, but I merely thought that he had a cold due to lackof knowledge in those days. I could immediately tell that he was not fine, when
he woke up and I saw his face. I simply took care so that he would not pushhimself too much. When he said he was fine, I trusted him. The best efforts I
could do were to take care so that he would not accumulate fatigue in winter inorder to avoid catching a cold, so that he would not go outside under the blazing
sun in summer, and so that he would take medicines punctually.

Requests to school staff◆ Female, 40s
I think my child was often absent from school. He had not been
diagnosed yet, and he could receive completely the same education
as healthy children. I heard that his homeroom teacher told a lie for him onceat entry examination to junior high school. When staff of the junior high schoolthat my son took examination for contacted primary school and asked, "Thischild seems to have been often absent. Does he have any problem?" The thenhomeroom teacher answered, "That is because all classroom members wereabsent more frequently than normal years, due to cold and other reasons. This
child has no particular problem." My son may have not passed the exam without
this lie of the homeroom teacher. Still today, application guides and otherentrance documents sometimes indicate a requirement "healthy child." I hopethat children with Fabry disease will be accepted as well.

◆ Female, 60s
First of all, I hope that people would know about this disease.
When we are ill or have pain or numbness in our hands and feet, we
also get mentally hurt by other people's assumption that we are merely playing
truant. I also think that it is important that parents make efforts to explain toschool staff and earn their understanding.
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◆ Female, 60s
When my son's disease was identified in the first grade of juniorhigh school, we notified so to a homeroom teacher, and the sameteacher took care of him over the three years as a homeroom teacher. Thisrelieved us and we are thankful to him. Because high school education was nolonger compulsory, my son had difficulty in attendance requirements. He wasforced to be absent or leave early often, and nearly had to repeat the same year
due to lack of credits. When this happened, we immediately visited our doctor in
charge, and had a medical certificate issued that explained his disease in detail,stating that it was not obvious by appearance, but was an intractable disease.
We brought this medical certificate and gave explanation to the principal. The
principal was a physician himself, and understood the disease. Thanks to his
decision that repeating the same year would do no good to my son, he could
barely graduate from high school. I suppose we should not give up in face ofdifficulties, but take action by ourselves to have our disease understood bypeople around us.

◆ Male, 20s
During high school, I made arrangements to receive IV drips for
enzyme replacement on different days of the week, in order to earn arequired number of school days. Because I was recorded as absent on a roll book,IV drips may have also affected my school evaluation. At university, IV treatment
during classes and exercises is authorized, and I am receiving treatment without
a problem.

◆ Female, 30s
Teachers sometimes tell my child to refrain from doing certain
activities, probably from good intentions. If we ask too much ofteachers in such cases, they become afraid and regard my child as difficult to40

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treat. I hope that teachers would observe my child if he wants to do difficult
activities, and is willing to make efforts.

◆ Female, 40s
It was when my child was in the first grade of high school thatthe disease was identified. Until then, I met a homeroom teacher
whenever he proceeded to a higher grade or when teachers were exchanged, andexplained symptoms as his "natural physical conditions," and asked for response.
Because schools were located in remote places, we took him to and from schoolby car in summer, so that going to school would not cause his sufferings.

◆ Female, 40s
I merely observed or could not participate in almost all PE
classes, athletic meets, and similar events. Because we lived in a hot
region, even healthy students were worn out in PE class in summer, and there
was no way that I could participate. I was also told by teachers to refrain fromparticipating in other events, because it might push myself too much. I felt out ofplace in many cases. I also quarreled with other students who were sarcastic tome, saying, "I envy her for being allowed to observe all exercises!"
Only swimming classes were not difficult for me, because water
adequately deprived me of body heat. Unfortunately, our school did not have
many swimming classes, due to frequent water outage in our region. Therefore,
I went to a swimming school to develop physical strength. When I became an
adult, the intensity and frequency of pain in my hands and feet were eased,
and I started to sweat in large amounts. Therefore, I boldly decided to becomea swimming instructor, which required much physical strength. This decision
killed several birds with one stone. Thanks to continuous physical movement atwork, I no longer get badly ill as I used to. As for my son, he participates in all
PE classes and school events, with cooperation from school staff. They also take41

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care to let him take a rest during classes/events. Just like me, he started to go
to a gymnastics school to develop physical strength, and became good at mat
exercises. He sometimes shows models in place of school teachers. Even students
whom he does not know sometimes talk to him, saying, "Oh, you are the boy ofback flip!" Both of us were fortunate to be able to leverage our strengths. Other
children may be good at drawing, telling stories, playing musical instruments,and so on. I hope that school staff would effectively guide them to leverage theirstrengths in their school life, without specially treating them. Children with adisease may not be able to do the same activities as other students at school.
They may be stressed or feel inferior for that reason. Even small strengths could
help them have self-confidence, and communicate well with their friends. Both
my son and I have told our schoolmates, friends and neighbors that we have an
intractable disease. So far, no problem has been caused by others knowing about
our disease. Instead, they always help us out and take care of us when we suffer.
We are extremely grateful for their frequent assistance.

◆ Male, 10s
To be honest, I sometimes want to use a school elevator, because
stairs are difficult for me, particularly when going up. I also hopethat shoes and gym wear designated by school to have high breathability. I also
want to go to school by bicycle, because my feet sometimes ache from walking
to school. I sometimes find difficulty when all beds in school infirmary have been
preoccupied. I cannot ask other students to give away beds for me, LOL. I am
also worried about going to school by train after I become a high school student
in the next spring. Keeping standing for a long time should be difficult for me. Of
course I know that all of these wishes are impossible.

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◆ Female, 20s
In my case, Fabry disease was not identified until after I becamea university student. Therefore, I do not think of any requests toschool staff.

◆ Female, 70s
Commutation to school is always difficult for us. Both myhusband and I were working, so we could not immediately go andpick up our son or daughter when we frequently got a call from school. They
therefore sometimes came home by themselves, enduring pain, after they became
junior high school students. It was also difficult for us to carry our children in abuilding not equipped with an elevator, or to our home, after they bodies became
larger. Fortunately, my mother and relatives lived nearby, and they helped meout including observation for a short while. Frequency of pain increases inadolescence, and it will be necessary that adequate talks should be had amongfamily members and with school staff. Unlike in old days, when it was difficult tomerely explain about the disease, various materials are available at present, so it
will be effective to use such items.

◆ Male, 30s
I hope that teachers interview a student with a special disease inadvance, as to what they can do, what they cannot do, and what help
is needed when doing what activities, and that collected information should be
effectively shared among all teachers. If care for a student with a disease depends
on reports from the student, s/he may be forced to do certain activities dueto hesitance or humility. The same is the case when information is not shared
among teachers. A student feels ashamed or guilty to repeat the same reports,
and tends to refrain from reporting his symptoms.
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◆ Male, 40s
I have two daughters. Fortunately, both of them have no
symptoms except skin dryness and cracks, despite the onset of Fabry
disease. Therefore, they are sending normal primary school life. In my own
student days, I did not feel much mental distress, owing to good understandingby my teachers. What I want from school staff is understanding of the disease.

Care in working life
◆ Female, 40s
I have experienced various jobs, including retail customer
service, printing industry, office clerk, and sports instructor. I cannot
write that I have an intractable disease in my c/v. After a certain period has
passes since my employment, I disclose that I am receiving treatment for an
intractable disease. This is always the case with me.
I once tried to open up from the beginning. However, when I shared thedisease during a job interview, questions often focused on my physical strength,
and no positive replies were received, though I do not know for sure whether
it was because of my disease. This may be natural, because it was difficult toreport absence frequently in any of those jobs. When I tell my colleagues, "Icannot tell this to management executives, but honestly I ...," they are surprised
at first, but usually follow-up on me with understanding. I particularly endeavor
to completely take care of my health. I also endeavor to maintain favorable
interpersonal relationships, so that I could ask for cover-up when I become
extremely ill. The most difficult problem is how to visit the hospital. It is often
the case that I cannot take days off on other than specified days of the week. If
I make an appointment for tests in addition to IV drips, scheduling sometimes
becomes difficult, and I cannot rest at all on days off. I also take all qualifications
required for each job. It is good to have qualifications that I can list on a c/v,
and they are also effective in job interviews. They sometimes turn out helpful
in different jobs. There must be many persons who have intractable diseases,
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but can make efforts and have more excellent abilities than others. I hopethat, in future society, more companies will correctly evaluate the abilities andmotivation of applicants, rather than regarding their diseases as handicaps, andemploy them for proactive utilization.

◆ Male, 30s
I have always worked indoors, so there was no occasion when
I had to go out under the blazing sun. I can also apply for days
off in advance at my workplace, so there have been few problems in making
appointments for hospital visits.

◆ Male, 40s
I have endeavored to work in air-conditioned rooms since
my childhood, and therefore I have had no particular difficulties
throughout my career to date, which has ranged from a programmer to a visiting
troubleshooter for PCs, and to a self-employed PC repair shop. I also worked
part-time in a gas station for nearly seven years, but I avoided heat by taking
evening or later shifts in summer. The key point would be to avoid hot hours andplaces, and to notify our weak points to people around us, so that they would
understand and help us avoid heat.

◆ Female, 70s
Pain did not start suddenly or continuously, and it was difficult
for me to explain to people around us, so I hid my pain, disguising if I
was fine. Only medicines could control my pain, so the doses gradually increased.
In my case, pain was less likely during standing work, rather than sitting
work. Probably due to aging, symptoms changed as I became older. The basic
precaution is not to push myself too much.
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◆ Female, 20s
I am still a student, and cannot describe difficulties whileworking. However, right now I am faced with difficulties in career
selection and job finding. I have done sound research at university. So far, I
have been engaged in research activities, aiming to join the faculty of university
in the future. However, my hearing is declining recently, probably due to theprogression of Fabry disease. The largest problem at present is whether I cancontinue with sound research, or I have to find another way. Problems are also
arising in my daily life, such as I cannot hear conversation, or I cannot noticephone calls. I went to several interviews for job finding, but sometimes I could
not hear what interviewers were saying. Younger patients could make various
efforts, such as finding an employment while they are relatively healthy and theprogression of symptoms are not yet obvious, or to take effective qualifications.

◆ Female, 60s
I was confirmed to have Fabry disease after I started working.
Subsequently, I changed my employment style to temp staff. Hospital
visits are very difficult, because there are still very few hospitals that can examine
us on Saturdays.

◆ Female, 60s
It took my son a few more years than other students to enter andgraduate from university. He learned English in a faculty of foreign
studies, and wanted to find employment in a hotel, but had to give up due tophysical reasons. He took a qualification as a caregiver immediately after that.
He was also qualified as a care manager while working at a special nursing home
for the elderly. At present, he is working as a consultant. His workplace is quitedemanding. He gets sometimes ill, and is working as if walking on a tightrope.
He was hospitalized several times and caused trouble to the workplace, but has
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continued with his job to present, owing to understanding from his colleagues.
He has been taking immunosuppressive agents after kidney transplantation.
Therefore, he takes extreme care to avoid cold and other infectious diseases.

◆ Female, 40s
I was physically weak, and had a fever during a two-weektraining camp before entry into the company. I was working as asecretary after entry into the company, and it was extremely demanding to workin line with my boss. Because it was the company motto that health management
was one of our duties, I went straight home after work, without going for a drinkwith my friends, and went to bed at 10:00 every night. The best efforts I canmake is to preserve and maintain my stamina.

◆ Female, 30s
In my case, I entered a dormitory as an apprentice for
hairdresser. A "dormitory" meant an apartment house that the beauty
parlor rented, where I lived together with my seniors. There were no employment
rules, and I had lessons until late at night. Meal hours were not fixed, andstanding work was extremely demanding. I was hospitalized for one month and ahalf for an unknown fever, but vigor during youth gave me power to go throughsuch difficulties. However, when sickness is repeated, colleagues start to say, "Areyou sick yet again?" I go to work somehow, because I do not want them to say so,mentally hits the limit, and the time comes when I have to give up. I wish that thetime would come when working hours could be arranged without hesitation. I
also think that support for job changing would be necessary. At present, we needto receive infusion therapy once every two weeks, which would be extremely
demanding for career-oriented persons. If I would start enzyme treatment, evenregularly working might be fairly difficult without ideas and efforts.

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◆ Male, 20s
The largest concern is whether I could work adequately. I am
worried what I should do when I cannot move due to a sudden feveror pain. To alleviate such worries to some extent, understanding from managers
and colleagues would be necessary. While some symptoms are difficult for otherpeople to understand, we will need to earn their understanding little by little.

Messages to children who will start treatment and their families◆ Male, 30s
It is recommendable to collect information concerning thedisease from doctors and JFA. It will be extremely helpful not only
to collect medical information, but also to meet patients in person, and listen toactual care that individual patients are taking.

◆ Female, 40s
I suppose that it is extremely demanding to have Fabry disease.
However, it is not a bad luck to be diagnosed with Fabry disease. Itmeans that there are therapies. You can meet doctors and fellow patients whowill share difficulties that you have suffered from. I myself met a lifetime friend
in an infusion room. I also came to know a doctor who relaxes my heart after
hardening once every two weeks.

◆ Female, 60s
Today, we can collect information on the Internet. We also have
JFA, so we can participate in seminars and other events to understandthe disease, and be positively affected through meeting and talking with fellow
patients and their families. Warm relationships are also developed through longterm exchange. I have two granddaughters, who are all carriers, but medicine is48

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advancing day by day. I believe that curative treatment will be established five or
ten years later, and new drugs will also be developed. I have many expectations
for doctors and pharmaceutical companies.

◆ Female, 20s
I am still a student, and have to make many decisions concerning
employment, marriage, giving birth, and so on. I am studying about
Fabry disease little by little, because I think that any knowledge about the disease
would help me make decision concerning treatment and career path. Mental
support in life with a disease probably differs from patient to patient, such as
family, friends, job, and so on. I hope that every patient would find a mental
support that helps them.

◆ Female, 30s
There is no disappointment. The day will definitely come when
you feel that you were lucky to be born in today's world. You are notalone, either. Many people are spending their lives to develop future treatment
for us. If you feel negatively, we at JFA are beside you. This is no one's fault. You
do need to blame yourself, either. Thank you for being born. I sincerely hope that
this message reaches you.

◆ Male, 40s
Honestly I feel sorry to my wife and children, but I hope thatthey recognize the actuality and live brightly.

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◆ Female, 40s
I have taken care so that my child could meet many people, live
positively, and always live with smiles, without getting depressed byhis disease. There is no use regretting the disease. I always want to accept thedisease and live positively. Accept your disease, and learn about your disease.
Fabry disease is a very rare disease that many doctors do not know about. Collectinformation from the Internet and other sources as to what kind of disease it
is. The Japan Fabry Disease family and Family Association (JFA) also provides
various information. You should not get scared or depressed at incorrectknowledge.

◆ Male, 20s
The requirement for periodic infusion may annoy you at first.
However, you may think of spending that time on something useful.
For example, you can read books, do other hobbies, study, or make up for lack ofsleep. We can rarely perceive the effect of IV drips, but it motivates us a little tothink that infusion is functioning inside our body. Do not become pessimistic due
to your disease. It unexpectedly delights us to think of benefits brought about by
the disease! For example, we can have discounts... We live only once, whether or
not we have a disease. There is no reason to enjoy it!

◆ Female, 60s
I hope that patients will endeavor to continue receiving
treatment. I also request researchers to establish easier therapies at an
early stage.

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◆ Female, 70s
Unlike in old days, Fabry disease can be diagnosed effectively. I
hope that patients can think about what they should do after knowing
about their disease, rather than suffering from an unknown disease. At the sametime, taking into consideration the influence caused by the disease on the entire
body, it is recommended that treatment should be started before organs begin to
deteriorate. Let us endeavor together.

◆ Male, 10s
I started infusion therapy at five years old. Honestly, I sometimes
do not want to go to the hospital, because time to play with my friends
decrease, and I also hate injection. However, I endeavor to continue hospital
visits, hoping that the disease would cure some time. I know that all of you aresuffering, but I hope that you also endeavor to continue with treatment.

◆ Female, 40s
Conditions are not the same among patients. They have different
environments, standpoints, and feelings. Parents may feel sorry totheir family. Patients sometimes hit the wall and troubled by anxiety for theirchild's future, their own future, and so on, more than healthy people do. My
policy is to make best possible efforts I can do, and enjoy living. However, I havealso wondered, got troubled, stopped, and proceeded again, in various events of
my life.
I suffered the most when I knew that the disease was inherited by
my child. At that time, I fortunately encountered an encouraging friend at thehospital where we received treatment. Luckily (or naturally), the friend also had
Fabry disease, had a child of the same age as mine, and was of mostly the sameage as me. Encounter with her encouraged me to positively receive treatment,
and protect my child to the extent possible. Because both of us and both of our51

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children have Fabry disease, we can talk frankly. Whenever we meet, we talk a lot
about ourselves, exchanging stupid jokes, consulting with each other about childcare, our treatment, and ask questions such as "Recently, I have had symptoms
like this. Have you?" Our children are also good friends. We often say that they
could support each other in the future, after their parents are gone. Both families
are members of JFA, and we have opportunities to talk with other patients. It
surprises us to know that symptoms vary substantially among patients, even we
have the same disease. We can also learn a lot from other patients. I think it isextremely important that patients with the same disease have opportunities toexchange. It feels sometimes difficult to receive continuous treatment without
knowing when it may end. Spitting out accumulated mental stress from time totime is indispensable to maintain our mental health and continue with child careand treatment. You are not alone, either. JFA and other organizations provide
support for you. Let us have a hope for the future, and join hands to continue
treatment.

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Activities of JFA
The former Japan Fabry Disease Patients and Family Association wasestablished in September 2002.
The association was incorporated as the Japan Fabry Disease Patientsand Family Association (JFA) in June 2014. JFA started full-scale activities asa nationwide organization. We continue with activities to help patients resolve
their concerns and live vigorous lives.

< Activities in Japan >Because patients and their families are scattered across Japan, we holdseminars and symposiums in different regions, in order to help patients collectlatest medical information, and receive fair and impartial medical service at
optimal healthcare settings. We operated a website, and issue periodic JFA news
and topics.
● Nationwide seminars and symposiums are held in seven key areas (twodistricts and five blocks).
- Hokkaido District (Sapporo Satellite Seminar), Sapporo- Tohoku Block (Sendai Open Seminar), Sendai- Kanto-Koshinetsusei Block (Tokyo Symposium, regular plenary session,and regular exchange meeting), Tokyo, jointly held
- Chubu-Hokuriku Block (Nagoya Open Seminar), Nagoya- Kinki-Chusikoku Block (Osaka Open Seminar), Osaka- Kyushu Block (Fukuoka Open Seminar), Fukuoka- Okinawa District (Naha Satellite Seminar), Naha
● The Special Committee for Pediatric Chronic Diseases of JFA tackles issues ofchild patients.
● We also endeavor for early identification, diagnosis, and treatment of thedisease, as well as for newborn screening.
● We also emphasize awareness improvement, consultation service, andinformation services, so that QOL of patients and their families can be
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improved.
● To deepen understanding and knowledge about the disease, we hold open
seminars broadly inviting physicians, nurses, healthcare professionals,
administrative officers, pharmaceutical companies, supportive organizations,and the general public.
● We aim at establishing reliable systems to support all patients after onsetof the disease, and help them receive fair and impartial medical service, sothat all patients can live with dignity and peace of mind in all regions in a
symbiotic society.

< International activities >International exchange is extremely important in the present and future.
Patients with Fabry disease also live in different parts of the world. Because it isa rare disease, we are aiming at its curative treatment through cooperation withfellow patients overseas. In May 2015, we held an international symposium inthe auditorium of The Jikei University School of Medicine, with 47 participantsfrom overseas. In concurrence, the 4th FIN Expert Meeting was held.
- Europe: JFA joined the Fabry International Network (FIN) in December
2013.
- USA: JFA has participated in the WORLD Symposium, FSIG Expert Fabry
Conference in San Diego, since February 2014.
- Asia: JFA has participated in Young Leaders Seminars in Singapore since
September 2013.
* Participants in overseas events are selected from members to represent
JFA. Vigorous application is invited through JFA news and other media.

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Invitation to Membership
The Japan Fabry Disease Patients and Family Association (JFA) invites
patients and their families as its members. Periodic information magazines
seminars are available. Share your feelings with us, instead of getting troubled
alone.
Regular membership fee: 3,000 yen per patient and their family
Supporting membership fee: 3,000 yen per individual who supports the
purpose of JFA and warmly observes patients and their families; 10,000 yen per
association or corporation[Contact] Japan Fabry Disease Patients and Family Association (JFA)TEL: +81 80 5720 2085; FAX: +81 3 4400 5954; URL: http://www.fabrynet.jp

Afterword
Fabry disease is a rare disease, and is designated as an intractabledisease by the Japanese government. Patients are scattered across Japan. It is a
genetic lysosomal storage disease with inborn errors of metabolism.
Most physicians and healthcare professionals say that they have never
examined a patient and do not have particular knowledge. Therefore, they treat
patients assuming other diseases, resulting in no improvement in symptoms andvisits to different hospitals, until they are finally diagnosed with Fabry disease
after many years. The situation remains the same to date.
Children with Fabry disease look just fine by appearance. Therefore, they
are often misunderstood when they complain about symptoms of the disease.
They cannot even move when they have a high fever, or pain in their limbs. Allthey can do is enduring. They are also forced to endure mental distress, evenduring childhood.
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Children and their guardians have explained about the disease toschoolteachers and people around them. We hope that all people proactively
learn about the disease, share information concerning the disease, and provide
support to children.
We wish that care should be taken so that children with an intractabledisease could send their daily life and school life with more fun.
This Handbook was prepared to play such a role. Thank you for reading.
Hisao Harada, President
General Incorporated Association Japan Fabry Disease
Patientt and Family Association (JFA)56

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Fabry Disease Handbook for Children
March 2015: Published 1st Edition
December 2017: Published 2nd Edition

Supervised by:
Yoshikatsu Eto
Emeritus Professor, The Jikei University School of Medicine Director, Advanced
Clinical Research Center & Institute for the Treatment of Genetic Disease, Institute of
Neurological Disorders

Published by:General Incorporated Association Japan Fabry Disease Patients and Family Association(JFA)

Edited by:Special Committee for Pediatric Chronic Diseases, JFA

Cover design: Shakenabe[Contact]
General Incorporated Association Japan Fabry Disease Patients and Family
Association (JFA)KitaMedia Associate K.K., 4-12-16-707 Hongo, Bunkyo-ku, Tokyo 113-0033
TEL: +81 80 5720 2085; FAX: +81 3 4400 5954
URL: http://www.fabrynet.jp
It is strongly prohibited to reproduce, use or divert this handbook without priorauthorization.

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58

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