“Growing up, I was always curious and a little afraid of pregnancy. The idea of something moving inside of me totally freaked me out. As time moved forward, the thought of starting my own family canceled any worries I had come to associate with having children.
I had always been under the impression pregnancy would be a breeze. You get a little bit bigger, a little sorer, but you exude a glow that can only come from creating a life inside you. I never thought being pregnant could mean weight loss, depression, pain, and anxiety.
I was fortunate to have two successful pregnancies, but getting to the nine-month mark was not easy. I had a condition called hyperemesis gravidarum during both of my son’s pregnancies. I was told I had excessive morning sickness, and that was just the tip of the iceberg.
I would vomit 20-30 times a day and have consistent, horrible nausea and dizziness. Instead of growing a baby bump and having that beautiful pregnancy glow, I lost weight and looked sick. None of that mattered to me. All I was focused on was praying I would get to meet my babies, since there was a constant worry of miscarriage. After a long nine months for both pregnancies, I delivered two healthy baby boys; Austin and Andrew. I was relieved the hard part was over. I didn’t realize it had just begun.
When both my sons were born, I was amazed at how perfect they were. Dark hair and both nearly the same size, only two ounces apart. As a first-time mom with Austin, I was excited to experience each milestone with him. When we reached the one-year mark, I realized Austin was not speaking as I thought he would at that point. I brought up concerns to his pediatrician and was told he was just a late talker.
By 18 months, I knew something was different. I started Austin in early intervention services. Autism was said early on, but I couldn’t believe it. We had no official diagnosis other than developmental and speech delays. He was a sweet and affectionate child. He was my little jokester. Everything I was taught about autism was about how withdrawn and antisocial someone diagnosed would be. I can admit now, I wasn’t educated on the subject at all. At the time, I felt there was no way this social butterfly and the happiest kid I knew could have something that makes him different. In my mind, the people I sought advice from just wanted to place him in a box, to see a diagnosis and not the beautiful child behind it. My heart knew better, so I enrolled Austin into special education pre-k. A few weeks later, I found out I was pregnant with my second son.
Andrew was born four years and two weeks after his brother, in 2019. I experienced HG again, but this time, I had a rambunctious toddler to care for. Though it was a struggle, I made it to nine months. Other than what was being called low blood sugar at birth, Andrew came home after two days in the hospital and was a great baby.
At about two months old, I knew something was wrong. Andrew wasn’t gaining head control, had difficulty using his limbs, and was having feeding difficulties. I sought medical advice immediately. Again, we were told by the pediatrician he was just delayed and he would get there eventually. At four months old, Andrew wasn’t rolling over and had the head control of a one-week-old. He also started to make a weird raspy noise when he breathed. Not long after, he developed a fever and was very lethargic. I took him to be seen right away and was told he had tracheomalacia.
‘It’s not a big deal. He will grow out of it,’ the nurse practitioner told me. We started early intervention services after that diagnosis. We were paired with a physical and an occupational therapist. The first visit with Andrew’s new PT leads to more tests. She picked him up and he was floppy like a rag doll. She told me he needed to be seen by neurology, ENT (chronic ear infections and his stridor nose), a swallow study, and plastic surgery evaluation. Andrew had an extremely flat head.
We went to all of our specialist meetings during January of 2020. Andrew qualified for a cranial molding helmet to reshape his head, ear tubes, a swallow study, a DL bronchoscopy, and a brain MRI. We also took Austin to be seen by an ENT and he was given ear tubes as well. They both had surgery on the same day in February of 2020. It was a scary day but was necessary. I felt we were making great progress and being proactive with the care plan for my sons… then COVID shut everything down.
Doctors appointments became harder to get and testing was put off. Neurology could only tell us he was happy and loved, but still missing milestones. Finally, after a long four-month wait, his MRI came back normal. The swallow study didn’t happen until September of 2020. The results for Andrew were very poor. He was aspirating all foods and liquids he ate. I fought with the hospital to admit him immediately, since I couldn’t take another day with my baby at risk for aspiration pneumonia. It took a week before the head of GI would admit him.
After having a feeding tube placed, next came upper airway surgery to try and correct what was now being called laryngomalacia (a floppy voice box). The surgery was not successful. Andrew still suffers from chronic respiratory illnesses. A simple cold can knock him out for weeks at a time. Our family has been socially distancing before the rest of the world was.
During all of this, Austin was diagnosed with classic autism and ADHD. I was now the mom of two special needs children. His ENT surgery also revealed he wasn’t able to hear properly. His inner ears were filled with so much infected matter the doctor almost had to do open surgery to clean out the infections. They said it was like he was hearing everything, but it was like he was underwater. As a result of the ear tubes, Austin went from nonverbal to verbal. It was one of the most amazing feelings to hear my son’s little voice.
In February of 2021, Andrew’s neurologist wanted to do a new genetic test for cerebral palsy. We did the test at home with a cheek swab and pretty much forgot about it. I had given up hope on finding a diagnosis and my only concern was giving my children all the help they could ever need. On May 1, 2021, I got a call at 6 p.m. from an unknown number. The number called back three times and I finally answered it. It was Andrew’s neurologist. The test came back positive for hypomyelination leukodystrophy or H-ABC, a gene mutation on TUBB4. As scary as it was, I was still excited to finally have a name for his condition and happy it wasn’t a stroke or some other metabolic disease. We finally has a diagnosis, now it was time to fight.
The neurologist didn’t know much about the condition and referred us to a geneticist. I started my own research and found an amazing support group on Facebook. It was then that I found out how devastating this diagnosis truly is. The excitement and determination I had before were swept away with grief. This incurable disease is marked by developmental delays, atrophy of the basal ganglia and cerebellum, motor problems, low muscle tone, balance issues, difficulties in controlling muscles, and death.
Diving more into research, I could only see these beautiful, innocent children with H-ABC fighting this battle from their very first breath. It wasn’t fair. I wanted to fight the universe. I didn’t know who to blame for this; was there really anyone to truly blame? I was in a dark place and felt like a failure as a mom. Bringing two kids into this world who would need so much help, and I was the reason they existed. I felt betrayed.
I decided one day that I could let the grief and guilt consume me or I could fight. I fought the darkness and anger. I decided to be their champion and advocate. If my boys were going to have to live with autism or H-ABC, then they would have the best of everything. I rallied and got Austin into ABA therapy and extra-occupational therapy along with special education kindergarten. For Andrew, I reached out and applied for in-home nursing and started coordinating with the Complex Care team at the hospital to make sure he was getting the best care possible. We have had our wonderful nurse for over a year now and she’s an integral part of our family. In May of 2022, Andrew will be going to the Children’s Hospital of Philadelphia to see the H-ABC specialist. Thank you to the Foundation to Fight H-HBC for giving us so much love, support, and knowledge about this condition.
We now know Andrew is roughly only 1 in 200 people with this condition, and only 1 of 8 known with his exact variant. These numbers will change as testing becomes more available. Austin is 1 in 44 children in the US that’ll be diagnosed with autism. These numbers don’t represent how loved and cherished these boys are. They have a beautiful community of people that would do anything for them. We have found out Andrew qualifies for the Make-A-Wish foundation, so we will be submitting for a wish that best suits Andrew.
Alas, I never thought I would be a parent of one special needs child, let alone two, but this is our life and we are loving every minute of it. Our boys are happy, loved, and well cared for. Our family and friends have become our biggest support and help. I am very thankful for every day I have with my children and can’t wait to see all the amazing things they will do in their beautiful lives. Our next steps as a family moving forward will be to continue to make progress and to never stop fighting for the best for my boys.”
This story was submitted to Love What Matters by Michelle Yeley. Submit your own story here and be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.
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