2014-04-16 12:54:45 by Kristin Paulus - Patient Family, as posted on the inside.akronchildrens.org blog.
During the first year of our son's life we searched for a reason why he had low muscle tone, delayed development and feeding difficulties that required a feeding tube - but still failed to thrive.
Days were filled with early intervention, symptom management, surgeries, diagnostic testing, hospitalizations and therapies. His routine genetic test results were normal.
When he was almost 1 year old, we were told by one of his therapists that routine chromosome analysis can "miss a lot." We advocated for better testing and learned that Wolf-Hirschhorn syndrome (also called 4p-) was the reason for his struggles, but still not the source of our answers.
We found answers within the 4p- support group, which was full of families who had become experts about the syndrome and helped guide us through our next steps.
We also learned how the range of abilities among people with Wolf-Hirschhorn syndrome differed from the prognosis Ryan was given.
We later learned that the syndrome is quite rare and that published research is very outdated. This makes it understandably difficult to find answers or an accurate prognosis. But the combination of outdated research and rarity of Wolf-Hirschhorn syndrome increases the importance of raising awareness.
Anyone could be instrumental in helping a family find answers and support, just by being more aware.
Ryan is now 7 years old. He remains extremely small for his age and still faces challenges, but he has already surpassed many of the initially anticipated limitations related to speech, physical and cognitive functioning.
Major symptoms of WHS/4p- can include distinct facial features ("Greek Helmet" faces), feeding difficulties, growth and intellectual disability, seizures, closure disorders (cleft lip or palate, coloboma of the eye, cardiac septal defects) and other physical disabilities.
Please visit 4p-supportgroup.org for more information and to increase your awareness.
(8 a.m.-4:30 p.m.)
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