Our Kids  /



Cobalamin C

Andy turned 37 in January 2022!  Unbelievable that we have been OA parents for that long…and really glad and grateful for the love and support of our friends, medical team and family to get us to this point!

A brief history – Andy was diagnosed at 3 months at Johns Hopkins Hospital.  I was an anxious new mother taking his temperature regularly and it was down to 97 when I called his doctor – they were able to see him immediately and he started to turn blue.  The doc didn’t wait for an ambulance; one of her colleagues drove Andy me to Hopkins Hospital at 80 mph – and when we got there Andy went straight to the ICU and then was in the PCRU (Pediatric Research Unit) for almost a month before they could stabilize him enough to send him home.  This was in 1985, before testing was available.  We were fortunate beyond belief that Hopkins had seen CBL-C before and new what Andy needed.  We were told to “take him home and love him.”  It took us a while to figure out – they meant that most likely he would not be able to have much of a normal life at all.

The 3 months without intervention resulted in seizures, intellectual disabilities, macular dystrophy (no central vision) and autism.  Andy went to an early intervention program and the Maryland School for the Blind and is now served by Penn-Mar, which provides him one on one supports 24-7.

​Those are the basics – here’s what I wished I had known when Andy was diagnosed:  He would turn out to be a happy, healthy, mostly delightful young man who loves 50s music – especially doo-wop, playing and following all sports especially baseball, and anything that has to do with the Teenage Mutant Ninja Turtles. He is extremely talkative, friendly and outgoing, remembering people’s names way beyond my capacity to do so – like the server at the restaurant we last visited 2 years ago!  Andy has held several jobs and volunteer positions (he is currently retired he says) and he has been a source of learning and growth for me, my husband, and his younger brother Alex, who is one of the kindest, most empathetic people you will ever meet.  Andy lives in his own house in a neighborhood near ours, with awesome neighbors who love to interact with him.
And here’s what made the difference – first, having plenty of support from friends and family and starting a support group of families of kids with disabilities.  Now there are many support groups available but just knowing we would be with people who could understand our challenges was huge.  Next, getting services – through the schools, through the state, getting on lists early so that when Andy was 21 he had everything lined up.  Third, and most important, was getting connected with NIH and Dr. Chuck Venditti’s team so they could follow Andy, adjust his meds, give us diet recommendations, and just give us a sense of security that he has a medical team that really understands CBL-C.

I truly wish that 37 years ago when Andy was diagnosed that we could know how it all would work out – that there would be rough times but so much fun, learning, appreciation, and gratitude for having a one in 100,000 kid like Andy.
Pikesville, MD
Pictures- Andy admiring a motorcycle on our way to a Pirates game in 2020 Andy on Halloween 2020 with his friends Craig and Maria in his neighborhood

From the Spring 2022 OAA Newsletter

Select Language
%d bloggers like this: