Gabrielle En Leonike | Gabrielle And Leonike - Rett Syndrome South Africa
by Sandy on December 14, 2012
NOTE: An English translations follows the original afrikaans article.
Leonieke is op 34 weke gebore omdat sy opgehou groei het. Sy het 1.7kg met geboorte geweeg. Sy was heel normaal en amper nooit siek, nie eers met ‘n verkoue nie.
Sy het bietjie lank gevat om te leer kruip. Ons het nie veel daarvan gedink nie want sy was tevroeg gebore.
Laas jaar Oktober het haar handjies begin bewe, so asof dit baie inspanning gevat het om iets te doen. Ons het haar hospitaal toe geneem. Die hospital kon nie vasstel wat die problem was nie. Ons het haar toe na na ‘n Pediater toe geneem. Hy het haar laat opneem om bloed toetse en scans te doen, maar kon ook niks sien nie. Hy het eerlik vir ons gese hy weet nie wat fout is nie.
Die Pediater het ons toe verwys na die wonderlikste Neuroloog ooit. Sy het Leonieke dadelik laat opneem waar sy 2 weke spandeer het. Een bloed toets na die ander, lumbale punksie en nog scans; niks nie. Hulle het haar toe ontslaan en ‘n week later het sy erger geraak.
Op die stadium kon sy toe nie eers meer sit of haar bottel vashou nie. Hulle het toe bloed Manchester toe gestuur om te toets vir Krabbe, ‘n diagnose wat ons nie wou he nie, omdat die kinders met Krabbe maar ‘n lewensverwagting van 2 jaar het. Uiteindelik, net voor Kersfees, het die uitslae terug gekom en dit was negatief vir Krabbe. Sy is ontslaan en ons het gevoel dat die ergste was agter die rug.
Op die 10de Januarie is ons terug na die Neuroloog want sy het ander toetse se uitslae ontvang. Dit was toe dat Leonieke positief getoetse was vir Rett Sindroom. Dit is vir my elke dag nog ‘n beter uitslag as daai Krabbe sindroom wat ons aanvanklik oor bekommerd was.
Leonieke kan nie sit of praat nie. Sy is so “wakker” en het geen verdere gesondheids probleme nie. Sy is gesonder as haar broer wat ‘n normale lewe lei.
Sy kan natuurlik skree asof mens haar vermoor. Haha. Sy begin haar kop darm weer regop hou maar die handjies is nog relatief toe en sy kan dit nie gebruik nie. Ons hoop dit raak beter in die nabeie toekoms.
Leonieke was born at 34 weeks because she had stopped growing. Her birth-weight was 1.7Kg. She was completely normal and was almost never ill, not even with the common cold.
She did take a bit of time before she learned to crawl. We didn’t take much notice because of the fact that she had been born early.
Last year in October 2011, her hands began to shake as if it took a lot of effort to use them. We took her to the hospital, but they could not work out what the problem was. We then took her to a Pediatrician. He had her booked in to the hospital in order to do a variety of blood tests and scans; nothing. He told us quite honestly that he did not know what was wrong.
The Pediatrician then referred us to the most wonderful Neurologist. She immediately booked Leonieke into hospital where she remained for two weeks. There was one blood test after another; a lumbar puncture and more scans; still nothing. They released her from the hospital and a week later she became even worse.
At this stage she could no longer sit or hold her bottle. They then sent blood to Manchester in order to test for Krabbe Disease. This was a diagnosis we really did not want to have, because children with Krabbe have a life expectancy of only two years. It was just before Christmas that the results cam back with a negative result. She was released from hospital and we felt that the worst was over.
January 10, 2012 found us back with the Neurologist because she had received the results of other tests. It was then that Leonieke was confirmed as being positive for Rett Syndrome. For me it remains a far better diagnosis than the Krabbe Disease which everyone was so worried about.
Leonieke cannot sit or speak. She is very alert and has had no further health problems. Her health is better than that of her brother who leads a normal life.
Of course, she can scream as if somebody was murdering her. Haha. She is beginning to at least hold her head up again, but her hands don’t function and she is unable to use them. We hope that things will improve in the near future.
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