Hypotonia & What Else? Genetics, Neurology, Cardiology, Therapy, GI, ALL of it..

Hypotonia AND??? What else? Why? How? These questions have plagued us since the day Davie was born. We have been given no answers, wrong answers and late answers. We had to search on our own for information. Hindsight is 20/20. That has applied to our Dave in so many ways. I'll start with Davie's timeline in the way we grew to know his diagnoses. When Davie was born he struggled to breath on his own. His oxygen was going down and down. By the time he finally entered the world we didn't know if he would make it. His Apgar scores were 2 and 7. Yes TWO and SEVEN. Just reading that makes me emotional. Remembering how every nurse was trying so hard to get him to breathe. He just wouldn't. I held my breath with him and my mind just started racing. Once he started breathing, his cry was so weak. He was blue and beaten up from them trying to bring him to life. Not long afterwards he was put on oxygen and transferred to the NICU with Respiratory Distress. Once there, he went into SVT. They had to ice him to get his heart rate back down. After another episode, a cardiologist was requested and soon he started on propanalol. He stayed in the NICU for 9 days. He was the largest baby in there at 8lb 8oz and almost 22 inches long. While we were there he was diagnosed with a tongue tie and they immediately wanted to remove it. I hesitated; but agreed. That was the first procedure that was deemed not necessary for Davie. While in NICU Davie had two hearing tests. He failed both of them.

At three weeks old, Davie was diagnosed with Failure to Thrive and Silent Reflux. He had repeated SVT episodes which led to a 5 day stay in PICU where we revisited cardiology for a longer term treatment for his SVT. He was also on oxygen for the duration of his hospital stay. At four weeks he was diagnosed with Stridor (laryngomalacia) with retractions. This led us to an ENT who performed a laryngoscopy at nine weeks of age. The reasoning for surgery was to view his throat and esophagus in hopes that his epiglottis was too floppy or large. They planned on clipping it to allow him to drink better without desats. During surgery they found his epiglottis was fine, but his airway was extremely narrow. Also, because of his tongue now falling back in his throat, the surgeon performed a tongue-lip adhesion. In recovery, Davie was given a PRS diagnosis. Pierre Robin Sequence. This diagnosis immediately made some sense to me because I had already came across it in a few google searches prior. Davie had an extremely small, receding chin at birth with a very high-arched palette. Due to Davie's restricted airway, any regular cold or sicknesses were very dangerous for him. Steroid therapy helped him tremendously along with Budesonide and Albuterol breathing treatments.

Around four months, Davie went to an audiologist for an extensive hearing test. He passed the sensory part. He didn't technically fail the conductive part, but he did not pass either. This led us to believe there could be a structural reason for hearing loss or even nerve-related reasons for any hearing loss.

At five months old Davie had a back to back hospital stay for Rhinovirus. While there, we slept in an oxygen tent, had steroid injections, antibiotic therapy and breathing treatments. Hospital stays like this became our norm when he got sick.

At six months Davie went for a vision appointment for failing to focus. He was prescribed glasses with a 4+ and 5+ prescription! We have since checked his eyes yearly and each time his vision gets better and better. His eye muscles are getting stronger and stronger! At nine months of age Davie was FINALLY diagnosed with hypotonia after his first Shriner's appointment. This was one we knew around five months of age because he wasn't army crawling or pushing up on arms. He was almost like a newborn until 6 months. At that point he started rolling places to get around. The hypotonia was the first big clue to everything that had happened to Davie since birth. Feeding, GI, physical, motor-skills...it all went back to hypotonia being a primary cause for his delays. Shriners decided to wait on any further diagnoses and wanted to watch his development.

When Davie hit 12 months old his Pediatrician started looking into some of his structural abnormalities like pectus excavatum, high palate/arch, soft spot not closing, and slow to heal. This led me to believe he possibly had a connective tissue disorder.

When Davie turned 15 months old he had an orchiopexy and inguinal hernia repair. Also during this time he had many back to back colds that he just couldn't shake. It felt like we lived on oral steroid. It was the only thing that would help him breath and rest. However, the steroid use reared its ugly head when his teeth started coming out. They were grey and brittle when they erupted.

This was also the time frame where we started multiples therapies and we seemed to coast with inchstones. We returned to Shriners and Davie was fitted for AFOs, though he was still not crawling or bearing much weight. The Cleft team at Shriners also told us that Davie, in fact, did not have PRS. They too, seemed to think he had some sort of connective tissue disorder or related condition. Once Davie turned two we schedule a Brain MRI. This led to the knowledge of a small area on his cerebellum that was underdeveloped. He had less white matter, but not enough for concern. We took him to a geneticist where a Myotonic Dystrophy Panel and Hypotonia Panel were given. The results were de novo, which means nothing of significance was noted. During this time he also had other tests for thyroid, hormones, fatty oxidation, etc. All were normal. I felt relief knowing these tests were clear for him, but we still were left without answers about his future. This is where I had to do more soul searching than I ever had before. I know Davie has a purpose and a plan. I had to know that God had his hands on Davie this entire time. Having an answer or diagnosis wasn't going to change anything that we did with Davie in the present moment. So for a while I quit worrying and we lived our life according to how Davie needed us to. As Davie approached age four, something kept telling me to reach out to his geneticist again. It typically takes months to get in, but a few phone calls and one canceled visit from another patient had us in Dallas within 6 days of my initial call. I knew there was one more test we could do; the WES. Whole Exome Sequencing covers the entire span of genetic material. This was something we did not do the first go round for various reasons. We have recently submitted our samples and are awaiting the results of this very large test. It could be months before we hear anything. As Davie's parents, we are at a place with him where we are just fine with how he is. We are grateful for a now happy and healthier boy. We are ok if there are no more "answers." In one of my favorite books 'Keep a Quiet Heart,' Elliot states that God makes no accidents. I believe that wholeheartedly.

It's not my favorite thing to share the tough times that were so bad and so sad, but I know there are many parents going through the same thing right now with their child and are relentlessly asking why? Why my child? Why us? The why comes with how you see your little, child warrior struggle and get through things you can't fathom. The why comes with how it changes you as a parent; as a person. The why comes with sadness, joy, fear and triumph. The why comes with how you grow closer to God.

The first year of Davie's life was a rollercoaster. I didn't know if he was going to make it. That debilitating truth left me empty as a mother when I couldn't protect him. The second year came with a lot of hard truths and realizations. Fear. Advocating and pushing for my son. Then the confidence to break down any barrier that stood in our way. His third year until present has came with growth and lots of faith. We've learned to stop worrying so much. Everything is going to be ok. Different, but ok!