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What’s Wrong: Living with a Mystery Diagnosis

Blog Post· Noah's Journey

9/26
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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!

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Patricia Bast DO

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.

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« What’s Wrong: Mystery Diagnosis

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Noah turned 4 in January but I could not pass the Noah turned 4 in January but I could not pass the opportunity to share how much progress he has made! He has made so much progress this last year, his motor skills are VERY close to age level. And despite a diagnosis of Apraxia of Childhood he works tirelessly At communication and is the most social little boy. Full of love, life and compassion, Noah is pure sunshine. Determined to be independent he definitely keeps us on our toes but his smiles and laughter bring immense joy to all who meet him. To know Noah is to love him. 
Noah’s favorites include playdoh, lollipops, cars, legos, music, and art. 
Dislikes include sleeping in and anything that make him feel unsafe. 

#thisisfour #apraxiaofchildhoid #musculardystrophy #seizures
I am sad the Christmas season is ending, there is I am sad the Christmas season is ending, there is so much magic watching children experience all the beautiful joy 💕 
Isabella was a little uncertain about Santa this year. She LOVED talking to him but didn’t want to sit on his lap for more than 30 seconds. Noah on the other hand was his biggest fan. Luke is learned why all the Santa’s look different 😅
All my life my heart longed for a baby girl. This All my life my heart longed for a baby girl. This precious girl has changed and grown our family in all the best ways. I can hardly remember what life was like without her strong firey personality in it.
Motherhood has been hard, so incredibly challenging, but it is also the most incredible journey I have ever been on! 

Pictured in the @bravadodesigns Beaucoup nursing bra, very comfortable and supportive enough to wear all day.
It happens so quickly, the beautiful Fall colors a It happens so quickly, the beautiful Fall colors are disappearing and winter’s cold temperatures are taking over Georgia. Just last week we were making leaf piles and wearing shorts. Now we hide in doors under blankets and search for ways to entertain tiny balls of energy. 
Sweet Isabella woke up in the wee hours with her first stomach bug. My heart breaks for her. What are your favorite ways to heal upset tummies? And to entertain siblings stuck indoors?
It has been a busy week! Luke started 1st grade an It has been a busy week! Luke started 1st grade and Noah returned to his special needs preschool (he goes 2 days/wk). 

This year I really struggled with the decision between homeschool and public school. For so many reasons my heart lies with homeschooling, but in the end we chose to let the boys choose and they both desired to be with their friends in public school. 

What type of schooling have you chosen for your kids and why?
As the parent of a child with a rare medical diagn As the parent of a child with a rare medical diagnosis, going to the doctor is very uncomfortable. While Noah is doing extremely well his specialist ends all her sentences with phrases like “for now” or “at the moment”. It’s like she refuses to even hope that he will thrive. Yes, realistic expectations are important, but the facts are that Noah’s genetics are exceptionally rare and nobody knows what he will accomplish. 
So today I choose joy, joy that he is still with us, joy that he is catching up in every way, and JOY that I am blessed to be his mama and learn so much from him. 
#musculardystrophy

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Noah turned 4 in January but I could not pass the Noah turned 4 in January but I could not pass the opportunity to share how much progress he has made! He has made so much progress this last year, his motor skills are VERY close to age level. And despite a diagnosis of Apraxia of Childhood he works tirelessly At communication and is the most social little boy. Full of love, life and compassion, Noah is pure sunshine. Determined to be independent he definitely keeps us on our toes but his smiles and laughter bring immense joy to all who meet him. To know Noah is to love him. 
Noah’s favorites include playdoh, lollipops, cars, legos, music, and art. 
Dislikes include sleeping in and anything that make him feel unsafe. 

#thisisfour #apraxiaofchildhoid #musculardystrophy #seizures
I am sad the Christmas season is ending, there is I am sad the Christmas season is ending, there is so much magic watching children experience all the beautiful joy 💕 
Isabella was a little uncertain about Santa this year. She LOVED talking to him but didn’t want to sit on his lap for more than 30 seconds. Noah on the other hand was his biggest fan. Luke is learned why all the Santa’s look different 😅
All my life my heart longed for a baby girl. This All my life my heart longed for a baby girl. This precious girl has changed and grown our family in all the best ways. I can hardly remember what life was like without her strong firey personality in it.
Motherhood has been hard, so incredibly challenging, but it is also the most incredible journey I have ever been on! 

Pictured in the @bravadodesigns Beaucoup nursing bra, very comfortable and supportive enough to wear all day.
It happens so quickly, the beautiful Fall colors a It happens so quickly, the beautiful Fall colors are disappearing and winter’s cold temperatures are taking over Georgia. Just last week we were making leaf piles and wearing shorts. Now we hide in doors under blankets and search for ways to entertain tiny balls of energy. 
Sweet Isabella woke up in the wee hours with her first stomach bug. My heart breaks for her. What are your favorite ways to heal upset tummies? And to entertain siblings stuck indoors?

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