Share your Story

These stories are from families whose children have been affected by ASXL syndromes around the world.  They are stories about partnering with doctors, finding helpful resources, and seeking answers… but mostly they are stories of persistence, strength, and hope. We thank the families who have so generously shared their journey with us.

Would you like to share your own experience? Do you have best practices, recommended equipment/devices/toys, inspirational articles, nominations for therapists/doctors for our newsletters? Please share your resources and information with us. Please complete the "Image and Story consent form" or contact us at info@arrefoundation.org.

We look forward to hear from you!

 
 
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I remember the first words...

from our neonatologist in the NICU: “Your child has dysmorphic features.” After a completely normal, full-term pregnancy, I was in a state of shock as my little baby was carted off for test after MRI after test and no one had any answers. Laying on his belly, he looked up at me — breathing tubes in his nose — with pain in his eyes. He struggled to feed and sometimes would take an hour and a half to consume a couple ounces through a slow drip bottle. We spent the next few years seeing various specialists each month until he finally received a diagnosis.

 
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How we got here

Amelia Rose Walsh was born 11/2012 in Oklahoma City.  She was full term and it was a normal pregnancy. She left the hospital without issue, and passed all her newborn testing.  Amelia was very difficult to feed initially and we had a hard time with her weight.  She was also a very quiet and easy baby. She never really seemed to want for anything and we also noticed that she never seemed to make eye contact with us.

 
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When everything started ...

In 2007 my first son Okke was born with Bohring-Opitz Syndrome (BOS). Just three weeks after his birth, he was clinical diagnosed with a syndrome of which there were only 20 children worldwide. Bohring-Opitz Syndrome is a life limiting rare congenital disorder with a high infant mortality. Failure to thrive, severe feeding problems, development delay, epilepsy, distinctive facial features like birthmark and cleft lip and palate are a just few from a very long list of symptoms.
Especially the first year with Okke was incredibly tough and overwhelming.