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Johnny's Story


This is Johnny, MCAD, wearing his rare disease t-shirt today. He will be 37 in March 2024  and we cherish every year we have. He was diagnosed at 15 months after his second crisis. It was 1988, well before newborn screening. We were lucky. His neurologist at the time said he’d just read an article the week before about a newly discovered disorder called MCAD and he thought it might be this that had caused his crises. It was, but nobody knew anything about it. He had med students do some research and they handed me 3 articles they found. That was it. We did it alone until I discovered Deb and this group. And that was life changing for him but mostly for me.


Johnny was called the worst case of MCAD by one of his doctors, but a doctor at Mayo called him a walking, talking miracle. I call him a blessing. During his first crisis at 6 months old, he caught a little cold. His first illness. First time parents. Yikes! He was lethargic. On the way to the doctor, he started seizing. From the doctor’s office, he was ambulanced to the hospital and eventually airlifted to the University of Iowa. He was in a coma, had a gastrointestinal bleed requiring multiple transfusions, seizures, acidosis, a liver 4 times the normal size and swelling in the brain. He was moving into organ failure, and we were called into the dreaded “family” room where we all knew the bad news was shared because back then, everyone waited in the PICU waiting room except for your 5 minutes every hour that you were allowed in.


We were told to prepare ourselves because he could not survive.


He did. And he survived the second crisis when he was diagnosed. It wasn’t as severe because we knew to watch for fasting and hypoglycemia even though we didn’t know why. Johnny was left with seizures, cognitive impairment, and ongoing hypoglycemia. MCAD became the easy part and seizures were the hard part. We call him a pioneer though. He was the first diagnosed at the University of Iowa and his team there was a big part of piloting newborn screening in the state of Iowa. Johnny was part of the research for that and gave blood for testing too.


He is doing well now. After discovering his blood sugars were constantly dropping unexpectedly through a continuous glucose monitor, we started him on large amounts of cornstarch before bed. He has been seizure free with only one break through seizure since and continues on his seizure meds because nobody wants to rock that boa. He was the kid who wore the helmet and what a celebration that was to hang that up!


Hypoglycemia was on ongoing issue and I’m sure many of you recall my frustration with that! Well, his gallbladder went bad in 2020. It took 9 months and 3 hospitalizations to figure that out because he doesn’t express pain. His ammonia level and liver enzymes went sky high and he was started on treatment for hyper ammonia which we have continued and lo and behold, stable blood sugars most of the time so all is well! Or maybe it’s having no gallbladder! Whatever it is, we’ll take it! Lots of puzzles have been solved through trial and error with this guy!


Johnny is a happy guy, remembers everyone’s names and makes people smile. He enjoys Broadway, Disney, game shows and researching on his iPad. He’s been sticking his arm out for blood work and taking his meds like a trooper since he was one. I just showed him his recent blood work and the doctor’s note that said his labs look great. And they were. His liver enzymes still like to get out of whack with some illnesses and we watch and hope for them to go back to normal. He said he has a great team and named all his doctors!


So, we are so thankful for newborn screening and love seeing all your children thriving and living their best life. Lots of great parents behind those kids!


Mom, Sue Ryder


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