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What’s Wrong, Journey to a Diagnosis

Blog Post· Noah's Journey

7/12
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Noah's newborn photo, what's wrong with my baby?

Noah has always been on his own schedule.  He put me through a slow progressing 14-hour labor before deciding he was suddenly ready to appear with no medical staff in the room! He was on his own schedule smiling for the first time at 12 weeks, he didn’t sit until he was over 7 months old, and he rolled instead of crawled until 9 months old.  While doctors always encourage parents not to compare their children; it is difficult when you know your child is showing signs of delays. I tried to look at his progress instead of asking, what’s wrong?

To make matters worse, Noah was only 6 months old when I first noticed his trembling hands. As he would excitedly reach for toys, the shaking was so significant at times that he would become frustrated.  It wasn’t long before his grandparents noticed and began asking “what’s wrong with Noah?”

At 11 months old, I first brought my concerns up to his doctor.  We agreed to watch it because tremors in young babies are often normal— just a sign of muscular immaturity.  At that time, there was a different concern; Noah wasn’t talking.  NOTHING—no words at all.  No babbling.  Having his hearing formally evaluated was the priority.  Additionally, Noah wasn’t crawling properly, instead he had a cute army-style crawl, and he was not pulling up to stand.

Noah passed his hearing test two months later, but still didn’t speak.  When we had his next physical—at 15 months old—it was undeniable that the tremor hadn’t resolved as we hoped.  What’s wrong with my baby!?!?  While he now crawled properly, he was only just starting to pull-up to stand.  There were no signs of independent walking, or even walking with assistance.  When I put all that together the alarm bells were going off.  I needed to know what’s wrong.  Many referrals were ordered that day.  Speech because he didn’t speak, physical therapy because he didn’t walk, and neurology for the tremor in addition to his developmental delays.

As much as I wanted to just ignore the hand tremor and be patient with his development, in my heart I knew seeing a specialist to confirm his health was important.  What I wasn’t planning on was for the world to stop due to a pandemic.  Suddenly getting him seen went from tough to impossible.  I needed to know what was wrong.

I spent hours/days/weeks on the phone with our insurance company and the specialists.  Finally, we saw neurology when he was 17 months old.  I was convinced we would walk out with a clean bill of health.  However, minutes into the physical exam it was clear his doctor was concerned.  She even brought in a second doctor to confer.  At the end of the appointment Noah had been diagnosed with central hypotonia (weak abdominal muscles), increased tone in his arms, diminished reflexes in his legs, and she confirmed the tremor in both hands. We also set forth a plan.

While the delays could just be his unique path, we need to rule out genetic causes, metabolic causes, and make sure his brain is normal.  What does this mean?  How do we find out what’s wrong?  Lots of blood tests, a urine test, and an MRI of his brain were ordered.  Essentially, the specialist wants to make sure he is digesting everything properly and he doesn’t have an underlying cause for the concerns we are seeing.

As I sit here typing I still do not have answers to what’s wrong, but what I do know is no matter the answer—Noah will always be my rainbow baby.  He is pure sunshine and we love him with everything within us!

18 Month old Noah standing in front of a window. What's wrong?

To read more about our miscarriages and journey of loss, click 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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She was literally screaming “Mama! Mama! Maaamaa She was literally screaming “Mama! Mama! Maaamaaaa!” 🤣🤣🤣
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.
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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?

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She was literally screaming “Mama! Mama! Maaamaa She was literally screaming “Mama! Mama! Maaamaaaa!” 🤣🤣🤣
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.

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