Children with Mucolipidosis Type 2 (ML2) or I-Cell

Feeding and Nutrition

1Introduction• Receiving the diagnosis of I-Cell Disease could be devastating for afamily. A group of families gathered to compile questions that newly
diagnosed families may have about this disease and the prognosis.
The objective of this document is to help other families find the best
quality of life for their child.
• This presentation provides information and tips to help families withfeeding and nutrition issues/challenges their children may face.
Information was collected from surveys sent to parents of childrenwith I-Cell Disease and is based on their experience.
• The objective is to describe the spectrum of issues and give parentto-parent recommendations from the families surveyed.
•Tip - It is important to work with your medical team to learn about the disease, but please
remember that the range of symptoms can vary widely from one child to another. Inaddition, a child’s symptoms may be severe in one area, yet mild in another.

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Survey results:
Birth-infant sucking issues• At birth, sucking (bottle or breast) was an issue for a majority offamilies.
• Within a few months, many infants learned to suck from a bottle;
however, some tired easily due to underlying heart conditions orinadequate strength.
• On average, babies settled at consuming four ounces of milk by thetime they were six months old.
•

Tip - Try not to prolong feeding beyond 30 minutes. Any longer than that, your child
may be burning more calories than they are consuming.

•

Tip - Dr. Browns bottles are vented and keep air from getting to the baby, which helps
reduce reflux. [Link to website]•Tip - Some families introduced slow-release sippy cups at an early age when sucking
remained a challenge. These cups release some fluid without sucking, but the more thechild sucks, the more fluid is released. [Link to website]3

Survey results:
Toddler-childhood solid food issues• Many children transitioned from bottle feeding to solid food.
• Some families found bottle feeding was the most successful
method for their child to reach their daily nutritional needs.
• Some families found food with strong flavors, tough textures
and/or cold temperatures are beneficial for pleasure tasting due tochallenges with diminished oral sensory.
• Some children find it challenging to chew and swallow due tosmall airways and large gums which prevents optimal breathing.
• When transitioning to solid foods a majority of families reported
the most successful tastes and textures were:––––––––

Mashed potato and Infant cereals (e.g. rice cereal)
Puddings (e.g. Boost [Link to website])
YogurtSoup broths and waterGravy
Stage 2 baby foods with or without cereal added to it.
Blended/pureed foods with a slightly runny consistency and texture of yogurt.
Soft ice-cream or homemade milkshakes with a scoop of peanut butter.

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Survey results:
Toddler-childhood solid food issues (continued)• When children were not receiving an adequate amount of calories,
some parents supplemented solid foods with Pediasure. [Link towebsite]• Some families also allowed their child to suck on the below snacks
to stimulate their taste buds.
–––––•

Lollipops (sometimes dipped in water)
Infant cookies, biscuits or crackers
Pretzels or Fritos
Ice-pops (frozen soup broth or Pedialyte for a salty taste)
Smoked meats

Tip – Some children are seen regularly by an Ears, Nose and Throat doctor (ENT) forrecommendations on food restrictions due to upper airway narrowing.

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Survey results:
Toddler-childhood solid food issues (continued)•

Tip – One family’s recipe focused on adding protein and fat to their child’s diet.
1 Egg
1 tbs. Milk
2 tbs. Heavy Cream
2 tsp. Butter
Beat the egg with the milk. Melt butter in a frying pan and turn heat to medium.
Scramble the egg/milk combination very lightly, until just cooked through keeping
heat on medium to low. Pour heavy cream in a small microwave safe bowl and heatfor 12 seconds. Combine the lightly cooked eggs and warm heavy cream into a small
blender. Blend for 10-15 seconds. The results are eggs that are totally pureed witha whipped texture (similar to yogurt).

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Survey results:
Gastrointestinal (GI) Considerations• It is important to consult with a Gastroenterologist (GI doctor) as
the majority of families struggled with GI related issues.
• The majority of children had a radiological/barium swallow study,
which was referred by a GI doctor, to better understand thestrength and function of their swallow.
• A GI doctor may also recommend a gastric empty study to better
understand the time it takes food to travel from the stomach tothe intestines.
• Some children had symptoms of either GERD/reflux(Gastroesophageal Reflux Disease, acid reflux, heartburn) or
aspiration/leakage in the trachea.
• Some children received a surgical procedure called afundoplication (aka Nissen) to reduce vomiting or the symptomsof GERD.
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Survey results:
Gastrointestinal (GI) Considerations (continued)•

Tip - The following medications (or thickening the formula) may help control thesymptoms of reflux:– Zantac– Nexium– Prevacid– Protonix– Mylicon– Carafate•

Tip - Reglan is a medication used by some families to help speed up digestion. Whena child has a delayed gastric empty of stomach contents to the intestinal track thismedication can increase the motility.

•

Tip - For aspiration/leakage in lungs/trachea, discuss the best path forward with yourGI specialist. Some families did continue to feed by mouth for pleasure tasting
instead of nutrition.

•Tip - If constipation is causing a decrease in appetite some families found these
medications to helpful:– MiraLax– GlycoLax
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Survey results:
Infant Age Oral Stimulation• Several children enjoyed teething toys or objects that greatly
reduced oral hypersensitivity. [Link to website]• Some tools used to provide oral stimulation and sensory input thatkids love are:
– Z-Vibe [Link to website]– Nuk Brush [Link to website]• Tools that worked to clean the gums and introduce tastes:– Finger brush for gums (with or without infant toothpaste) [Link to website]– Flavored toothettes [Link to website]• Many families worked with their children on tongue movements
below to strengthen their entire mouth while having fun:– Blowing raspberries– Sticking tongue out– Clicking tongue on roof of the mouth or side of the cheek• Feeding therapy was extremely helpful in strengthening the child’s
mouth, tongue and swallow. It also helped some families with thegag reflex and improved the sucking strength/motion which isneeded at a young age.
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Survey results:
Pediatric Age Feeding Therapy• Continue infant age techniques with graduated goals such as soundmaking with proper lip closure.
• Introduce textures and tastes to improve oral stimulation andsensory input.
• Speech/Feeding therapists used special spoons that allowed thechild’s mouth to form better over the spoon, stretching out thechild’s mouth and closing the lips together to take food off.
• Some families used speech therapy primarily for speech purposes
only and did not incorporate feeding therapy.
• Speech/Feeding therapy was extremely helpful in strengthening thechild’s mouth, tongue and swallow. Speech therapy seemed to help
distinguish between behavioral and technical challenges.
•

Tip – Keep feeding enjoyable and try not to force it or get frustrated. Your child may
respond better with small amounts of different things to taste while receiving nutrition
via a bottle or tube feeding.

•Tip – Allow your child to suck the food off the spoon. Don’t remove the spoon too early.

•Tip – Some children advanced to sucking liquid from a straw.
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Survey results:
Feeding tubes• When a child with I-Cell is not getting enough nutrients, such as
during an illness, a temporary feeding tube may be necessary.
• Some children progressed from a temporary to a permanent feedingtube.
• Tube feeding can be delivered in different methods (bolus orcontinuous drip) or speeds depending on the tolerance and needs or
your child.
• Tube fed children need periodic release (venting) of stomach gases toprevent aspiration and discomfort of gas build-up. Venting can occur
manually using a large syringe or during feeding using a Farrell Bag.
[Link to website]• The permanent feeding tube brand used by the majority of families isthe Mic-Key Button. [Link to website]

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Survey results:
Feeding tubes (continued)•

Tip - Consult with a doctor to determine feeding tube options for your child. Many families
found it most tolerable for their child to start enteral pump tube feeding slowly andincrease the pump rate gradually.

•Tip – Although it is always preferable to have your child take food by mouth, the point
may be reached where a permanent tube is the most practical and beneficial approach tomaking sure your child is properly nourished.

•Tip – Prolonged periods of not taking food by mouth can cause oral aversion, whilenasogastric (NG) feeding tubes can decrease a child’s suck/swallow mechanism. Somefamilies found it beneficial to continue short periodic spurts of bottle feeding as practiceand strength building for their child.

•Tip – If faced with irritation or infection of the skin around the gastrostomy tube site somefamilies found the below to work:– Clean the site twice a day and dry thoroughly.
– Use a topical cream such as Silvadene [Link to website] or Triamcinolone [Link towebsite]– Cover the site with a gauze pad.

•Tip – Nasogatric feeding tubes may cause irritation and breakdown of the facial skin, so it
is important to keep the skin clean and dry. And find a tape that does not irritate yourchild’s skin.
12Types of Feeding Tubes•NG - Nasogastric Tube Feeding (tube enters from the nose & ends in thestomach) - Used for temporary or short time tube feeding, although somefamilies have used it more permanent. These tubes do not require
surgical placement.

•NJ - Nasogastric Jujunal Tube Feeding - (tube enters the nose & passes
through the stomach and ends in the Jujunal (middle of the small
intestines) - Used for temporary or short time tube feeding when a child's
stomach can not tolerate a NG tube feeding. Some reasons for not
tolerating NG feeding are severe gastric reflux, inadequate gastric motilityand high risk of aspiration. These tubes require interventional radiologicalplacement, but do not require surgery.

•G - Gastrostomy Tube Feeding - Used for long term enteral feeding andavoid irritating the nasal passage, esophagus, trachea and do not interferewith breathing or cause skin irritation. These tubes are surgically placed
directly into the stomach with a button at skin level.

•GJ - Gastostomy Jujunal Tube Feeding - Used for long term tube feedingwhen a child's stomach can not tolerate G tube feeding. Some reasons fornot tolerating G tube feeding are severe gastric reflux, inadequate gastricmotility and high risk of aspiration. These tubes require interventional
radiological placement, but do not require surgery.
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Survey results:
Final thoughts on feeding• Being underweight or overweight are common issues in children
with I-Cell. It is important that they eat according to theirheight/growth pattern and not in an effort to increase growth.
– Being overweight can affect breathing and mobility for children with I-Cell.
– Due to caloric storage, they have an extremely hard time losing weight.

• Families should talk to their physicians and or nutritionist about
daily caloric needs and recommendations to increase/decreaseweight.
• The majority of families used Pediasure (with or without fiber).
Other formulas used:– Bright Beginnings Soy Beverage– IsoMil Soy– Enfacare by Enfamil– Nutramigen infant formula– Peptamin Jr. Pediatric14

Survey results:
Final thoughts on feeding (continued)• Some families used Pedialyte for a separate feeding or mixed it withformula to reduce caloric intake while still hydrating their child.
• Work with a therapist (speech, physical or occupational) to findappropriate positioning for your child while eating. Positioning needsmay change based on age and strength so you should consult with atherapist periodically for help.
•

Tip - Children enjoy being part of the family and eating at the dinner table.

•

Tip - Don’t stress out over feeding.
–“As parents, it was tough to give up that battle. But it is important to understand that there are somany battles to fight with this disease that it is easy to become overwhelmed with the variousdetails. If there is a simpler solution, like bottle feeding with an adequate dietary supplement andyour child is happy and maintaining weight, then go with that. Our family life drastically improved
when we stopped trying to force solid foods.”–“Don’t force it and let them do it on their own. Try to make it “a game” or fun and the children will
not realize they are eating and stress over it!!”15

Website Addresses
Below are helpful links and website addresses of products discussed
throughout the slides.
Dr Browns Bottles(http://www.handi-craft.com/products/bottles.htm)

Slow Release Sippy Cups
(http://www.babyearth.com/the-first-years-take-toss-spill-proof-cups-7oz-6pk.html)

Boost Pudding(http://www.nestle-nutrition.com/products/Product.aspx?ProductId=d01ab52e-5352-4f05-8a0a5501410044ea)

Pediasure(http://pediasure.com/)

Teething toy sample(http://www.beyondplay.com/ITEMS/T339.HTM)

Z-Vibe(http://www.beyondplay.com/ITEMS/T928.HTM)

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Website Addresses (continued)
Nuk Brush(http://www.superduperinc.com/products/view.aspx?pid=om320)

Gum brush(http://www.babyearth.com/gerber-tooth-gum-cleanser-infant.html)

Toothette(http://www.allegromedical.com/personal-care-c532/toothette)

Farrell Bag(http://www.medplususa.com/list-product_info-pCorpak_Farrell_Valve_Bag_Pressure_Relief_System_30_Case-pid-11729.html)

Mic-Key Button(http://www.mic-key.com/index.asp?page=product)

Silvadene(http://www.drugs.com/cons/silvadene-topical.html)

Triamcinolone(http://www.drugs.com/triamcinolone.html)

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Glossary•

Aspiration•

Barium swallow study•

Bolus Feeding•

Carafate•

Constipation•

Continuous Drip Feeding––––––

Aspiration is the sucking in of food particles or fluids into the lungs (food or fluid going down thebreathing tube instead of the food tube) usually due to reflux or vomiting. Aspiration pneumonia isthe infection of the lungs due to aspiration.

Barium swallow, or “upper GI series” is an x-ray test, where the patient or child drinks a bariumsolution (often mixed in milk for children) and then X-rays of the upper digestive system are taken.
The barium helps visualize the passage of the liquid or food from the mouth to the stomach by Xrays and is used to diagnose reflux.
A method of tube feeding when food is delivered in shorter feeding intervals several times a day, butvary by child. The purpose of bolus feeding is to keep your child on a normal feeding pattern. Bolus
feeding can be performed by syringe or gravity drip method.
A medication used to treat or prevent ulcers in the intestines.
Constipation is defined medically as fewer than three stools per week and severe constipation as lessthan one stool per week.
A method of feeding when food is delivered for unlimited periods of time each day. Feedingschedules differ based on needs of a child. Feeding is typically performed by enteral pump.

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Glossary (continued)•

Esophagus•Fundoplication (nissen) surgery•Gagging•

GERD•

Gastroenterologist–––––

The food tube that connects the pharynx (throat) with the stomach. When a person swallows, themuscular walls of the esophagus contract to push food down into the stomach.
A surgery used for GERD to prevent the acid from going back into the esophagus and allows theesophagus to heal from acid damage. During fundoplication surgery, the upper curve of the stomach(the fundus) is wrapped around the esophagus and sewn into place so that the lower portion of theesophagus passes through a small tunnel of stomach muscle.
A throat spasm that makes swallowing or breathing difficult.
Gastro esophageal reflux disease (GERD) or commonly known as acid reflux, is a condition in which
the liquid content of the stomach regurgitates (backs up or refluxes) into the esophagus. The
regurgitated liquid usually contains acid produced by the stomach and can inflame and damage thelining (cause, cause esophagitis) of the esophagus.
A physician who specializes in the diagnosis and treatment of disorders of the gastrointestinal tract,
including the esophagus, stomach, small intestine, large intestine, pancreas.

19Glossary (continued)•

Gastric Emptying Study•

H2 Antagonists•

Interventional radiology•

Oral Aversion•

Otolaryngology–––––

A gastric emptying study evaluates the emptying of food from the stomach. For a gastric emptying
study, a patient/child eats a meal in which the solid food, liquid food or both are mixed with a small
amount of radioactive material. A scanner is then placed over the stomach to monitor the amount ofradioactivity in the stomach for several hours after the meal. In patients with abnormal emptying of
the stomach, the food and radioactive material stay in the stomach longer than normal before
emptying into the small intestine.

A group of drugs that reduce the production of stomach acid and are often used to treat GERD or acidreflux. Examples include Zantac, Tagamet or Pepcid that are available in liquid form.
Continuous X-Ray machine. Allows a technician to watch the movement of a procedure on an X-Raymachine.

Reluctance or refusal to feed or eat. A familiar example of oral aversion is a baby's refusal tobreastfeed. Prolonged intravenous or nasogastric feeding may contribute to the development of oralaversion.
A physician specialized in diagnosing and treating diseases of the head and neck, especially those
involving the ears, nose, and throat (ENT). Also called an ENT, ENT doctor, or ENT physician20

Glossary (continued)•PPI’s (Proton pump Inhibitors)•Reflux•

Reglan•Speech therapy•

Trachea–––––

Proton pump inhibitors reduce the production of acid by blocking the enzyme in the wall of thestomach that produces acid. These group of drugs are also often used to treat GERD, acidreflux or stomach ulcers. Examples include Prilosec, Prevacid, Aciphex, Protonix, Nexium andZegarid. Some of these formulations may be available in liquid formulation whereas others areavailable as granules or tablets to be given with applesauce.

See GERD
Reglan or Metoclopramide is a medication used to promote or speed emptying of food fromthe stomach and facilitate the passage of food through the gastrointestinal tract. This
medication is available in liquid formulation.

The treatment of speech and communication disorders. The approach used depends on thedisorder and may include oral (mouth/tongue) exercises to strengthen the muscles used inspeech and swallowing. Speech therapy is conduced by a specialist known as a speechtherapist.

Also known as the windpipe or breathing tube that connects with the lungs. The openings ofthe esophagus and the larynx (voice box) are very close together in the throat. When weswallow, a flap called the epiglottis moves down over the larynx to keep food out of thewindpipe.

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