What’s Wrong: Mystery Diagnosis

Following Noah’s specialty appointment with Neurology I went from thinking he was just on his own path to wondering “what’s wrong with my baby”! I was terrified and desperately searching for answers. Time was racing by and he still wasn’t talking, or walking. Because several of the tests ordered included rare genetic testing we needed to wait for insurance approval before getting them done. Due to the pandemic it took over 3 grueling weeks before pre-approval was finally granted.

The day after pre-approval was granted I took Noah to the lab. I was stressed it wouldn’t go well, but knew these tests were important to discover what’s wrong. Despite their being a half dozen tests he did incredible with his blood draw! No tears, no fighting, he was just his charming self. The challenge came when they wanted to collect a urine sample. Long story short we were at the lab 6 hours because the first sample spilled and then he wouldn’t go again. Finally, I gave in and we went home to try and collect the pee there. I had no idea how difficult collecting his pee would be. It took me three days and six different bags before I was finally successful!

Then the waiting started. Weeks and weeks of waiting! In fact several of the tests STILL are not back four weeks later. Waiting to learn what’s wrong with your child is so incredibly painful. It makes you feel helpless and defeated.

On Monday July 13th Noah had his MRI. It was an incredibly hard day. No solid food after midnight, no breastmilk after 4am, no water after 6 am. We showed up at 745am and I spent the next 3 hours trying to contain my bored, hungry, curious baby. He wanted to touch EVERYTHING, put EVERYTHING in his mouth, and desperately wanted to crawl around visiting everyone in the office. Noah was so sweet and charming to everyone he met. Waves for all his nurses and even smiles following his IV placement. Unfortunately, it took 4 attempts before his IV was successful because he kept pulling them out. Once ready he received Propofol and quickly fell asleep, something extremely un-nerving to watch as his eyes rolled back and body became motionless. Forty-five minutes later he was returned to my arms. A smile quickly graced his face as he clumsily reached for me. Noah giggled as he woke up, unable to hold his head, but eager to interact and cuddle. He nursed and became stronger by the minute. Soon we went home to cuddle and wait for his results.

That evening I received a call from his Neurologist that would change our world. Noah’s blood tests were abnormal. His genetic microarray was abnormal. They found an anomaly on his X-chromosome, he is missing a portion of a gene. This same gene has a connection to a VERY serious neuromuscular condition, Muscular Dystrophy. I crumbled into tears, terror gripped my heart.

The next morning I spoke to his Neurologist again, this time I learned that the genetic test does not give any concrete diagnosis. It may be totally insignificant or it may cause serious disease. We simply don’t know. During this conversation I also learned the Noah’s MRI was also abnormal. It demonstrated delayed myelination. Simply put, his brain is not quite as developed or mature as they expected. Once again, we simply don’t know what this means. He will need a second MRI to evaluate for progress, with the hope that in 8-12 months his follow-up MRI will be normal.

The next steps will include meeting with a Neuromuscular Specialist and potentially more lab work.

Not knowing the future is terrifying!  But we are choosing faith. God made Noah the sweetest, most loving baby and I have to believe he has a bright future no matter what’s wrong. 

Read more about Noah’s journey to a diagnosis here!

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