Mary Friona Celani
Rachel Collier gave birth to a beautiful baby boy one week ago. Sweet little Evan looked just perfect. He looked healthy. He looked like any baby looks at birth. But, sadly, it turns out, baby Evan was born with an extremely rare condition called Walker-Warburg Syndrome.
Walker-Warburg is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life.
Rachel tells me she knew something was wrong with her baby early in her pregnancy, “I was getting my prenatal care at Niagara Falls Memorial and my amazing doctor, Laura Debacco saw some possible abnormalities on the ultrasound at 20 something weeks. She sent me to Sister’s for a “clearer picture” but made it sound more like a precaution. Well, Sisters gave me the news that the brain had a significant amount of fluid, known as hydrocephalus.”
This reality was very difficult, “My mother and I sat in the room at Sister’s and cried knowing it would be a long road watching this little guy on their high tech ultrasound machine.”
So Rachel was somewhat prepared for some problems, but never imagined how severe they would be, “He was born Monday, he let out one little cry but was breathing and physically looked great.” Baby Evan seemed to be doing well, but after a few hours he took a turn and began having seizures. An MRI showed the baby likely had Walker-Warburg Syndrome. A devastating reality, “The moment we found out was devastating after seeing him look so normal after my c-section. I was walking around in a fog for a few days like shock.”
“He has showed such strength, he tries to do some normal baby things, which is sad, like suck during feeding but he apparently doesn’t have that gag reflex to try a bottle when I asked.” Rachel is heartbroken for her baby. But, this mama is also determined. She is hoping that someone out there can help guide her. That someone – a mom or dad who’s gone through this, or a doctor who knows how to treat this – can help her baby.
Rachel is hoping to raise awareness for this disease that most children don’t survive past age three. She’s hoping and praying for her sweet little baby, “I do not want to give Evan zero quality of life and live on a ventilator though he’s on it now. When I decide to take him off we’re gonna try some assisted oxygen and if he can’t do it, then he will pass peacefully.”
It’s an unimaginable pain for this Niagara Falls family, “I feel like he’s such a little blessing and fighter, I carried him full term and he was sent here for a short time for some reason so when the time comes – I’m not sure but we’ve discussed organ donation.”
If you have any information on Walker-Warburg Syndrome, please let us know and we will pass it on to Rachel and her family.