Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1): An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age.
Talk about a kick in the stomach to read that when your child is 2 1/2. Our first questions back to our geneticist surrounded that life expectancy. This is the answer we received:
I do not think we have any reason to believe that this syndrome would have an impact on Teddy's life expectancy. He is overall doing extremely well, and his seizures are in good control with the Keppra. There are a very small number of patients who are known with this condition, but certainly a good number of them are older than age 3. We also do not know what the cause of death was in the individual/s who passed away at age 3 or what other complications/medical problems they had. I will investigate further and let you know if I learn anything further about this.
I'm grateful our genetic counselor provided this answer, which seemed both realistic and optimistic. I've heard horror stories of parents who were told their child would never live, walk, talk or reach a variety of milestones. We've never encountered that personally from any doctors, yet we had it printed in black and white. And, you know it must be true if you find it online ... especially when it was one of three valid search results for Teddy's diagnosis. (Yes, when Teddy was diagnosed, even Google had little to no answers for us. Seriously, three search results. When was the last time you searched for something Google couldn't find?)
|Teddy takes the saying Your presence is present enough quite literally.|