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What’s Wrong: Mystery Diagnosis

Blog Post· Noah's Journey

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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!

Thanks for stopping by!

Your Name
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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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.
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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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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
A few months ago Isabella turned 1 year old! She i A few months ago Isabella turned 1 year old! She is bright, beautiful, hilarious, and compassionate. She says “mama”, “dada”, “hi”, and “bye”. Her brothers adore her and love making her laugh. Bella is still a great sleeper, and eating is her favorite. She is starting to take her first steps and we are excited to watch her grow! 

When did your babies walk?

(I took these photos at 12mo old, but my phone has been having technical difficulties and I couldn’t post them.)

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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?

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