It has been over two years since we started the journey to a diagnosis for Noah. It has been scary and full of tears, pain mixed with joy and celebration. Over the last two years he has had countless blood tests, two MRIs of his brain, two EEGs, two cardiac Echos, two EKGs, and hundreds of hours of therapy. He has come so far in his abilities and been through so much.
The myriad of tests revealed some answers and even more questions. First, Noah’s DNA has a deletion on his X-chromosome that puts him at risk for Muscular Dystrophy. After following him for 18 months his neurologist officially diagnosed him with Becker’s Muscular Dystrophy. Thankfully his follow-up testing was encouraging and his heart function is beautiful. It is entirely possible Noah will be minimally symptomatic or totally asymptomatic. Second, Noah’s MRI of his brain was abnormal, but we don’t know if the slight scarring noted is of any importance. His second MRI did look better than the first so we have every reason to believe his brain will heal. After 18-months working with his speech therapist Noah was formally diagnosed with Apraxia of Childhood. Essentially it means he takes longer to learn the muscle patterns for his mouth to form words.
To complicate matters further, last August Noah suddenly started having seizures. His Neurologist thinks he simply has a low threshold for seizures. So anytime he gets sick, he is prone to having a seizure. Between August and January he had 5 separate seizures. Culminating in a 50 minute seizure in January that was one of the most helpless an terrifying moments of my life. Thankfully, none of his seizures have had lasting detrimental effects. Following the near-devastating 50-minute seizure we did make the difficult decision to start him on medication. Unfortunately, it has been a tough adjustment. He has had mood swings, tantrums, difficulties sleeping, and increased tremors of his hands an legs. But, it has now been 8 months without anymore seizures.
Despite it all, Noah is thriving. He is attending special needs preschool where he receives speech and physical therapy. He is speaking 2 word sentences and his vocabulary is exploding. While he still struggles with word articulation, we are incredibly proud of all his progress. His physical abilities have also come a long way. Noah runs, climbs, jumps, does somersaults, and just started Martial Arts! He is pure joy and sunshine to be around.
Read more about Noah’s story HERE.
Thanks for stopping by!
Dr. Patricia Bast was born and raised in Southern California. She earned a bachelors degree in science at UC Irvine, then went on to graduate medical school from Touro University College of Osteopathic Medicine in Northern California. After several years working as a pediatrician Dr. Bast choose to expand her training to include lactation consultant. Dr. Bast is now raising her children and taking care of patients in beautiful Georgia.
