His Story
Diagnosis: Pontocerebellar Hypoplasia- Type- Unknown
During Major’s pregnancy everything was normal as far as his development, he was growing normal and he was extremely active. Because Major was a large baby his doctor’s felt it would be better to induce him a week early to avoid any complications. On delivery day the labor was easy and quick; things took a change during the delivery. Major had gotten shoulder Dystocia and it became a medical emergency to get him delivered before he suffered from severe injuries or death. The doctors were able to deliver him but the nurses rushed him away immediately to check for injuries, about 30mins later I was clear to hold him. That night in the delivery room Major was making strange sounds, the nurse was concerned as it appeared he was suffering from low oxygen. Major was then taken away for observation for about 1.5hrs; when the nurse returned she said there was nothing to worry about and everything was normal. We didn’t know it yet but that was the beginning of his journey.
When Major was 7 days old his family was taking family photos and his mom had a feeling there was something different about her son. During the newborn photos Major kept rolling his eyes upward. Nothing they did could stop him from doing it. Shortly after his mom voiced her concerns with his Doctor; the pediatrician dismissed her concerns stating that all children develop differently. Every visit his mother would voice her concerns, unfortunately the doctor was not seeing what she was seeing. At three months old, Major became extremely ill and needed to be hospitalized. While at the hospital his mom asked the doctors if they felt Major was developing as he should compared to children his age; the doctor felt that he was developing typical.
At four months old, Major still had extremely low tone in his neck control and struggled balancing his head. His pediatrician at that time felt that he may not be getting enough tummy time and recommended that we do in home therapy to build his neck control. His mother again tried to tell the doctor that she believed there was more to it than her holding him too much. For two months Major had in home therapy once a week to work on his neck control and doing floor time. At Major’s six month check up his doctor finally agreed that at that age he should have more neck control and voiced her concerns about his development. She immediately referred his parents to a neurologist to get further testing completed.
While at the neurologist she immediately told his parents that she believed Major had some sort of brain malformation based on his mannerism and recommended that they do an MRI. The MRI results came in about a week later which showed that Major’s Pons and Cerebellum had not fully developed. His pons were slightly effected but his cerebellum was half the size it should be. Due to this he was officially diagnosed with Pontocerebellar Hypoplasia; which is an extremely rare condition that his neurologist was not familiar with. Since his neurologist had not seen a patient like Major before she recommended that his parents follow up with a Neurologist at the Houston Children’s Hospital. The neurologist in Houston informed his parents that they would need genetic testing to determine the type of PCH Major had as all types of the condition are degenerative and it is not likely children make it to adulthood. After six long months his parent received the results where they found no genetic markers for the condition; which is the best news they could receive. Without a genetic cause for the condition the neurologist believe that something occurred late in the pregnancy such as a stroke that caused his pons and cerebellum to stop developing. This means it is not likely Major’s condition is degenerative and they believe he can improve his skills by intensive therapy.
After two years in feeding therapy Major had made a lot of progress but was not consuming enough calories to gain or maintain his weight. October of 2021 Major was diagnosed with failure to thrive due to his weight for his age and was scheduled for a G-tube surgery three weeks later. The decision to get Major a feeding tube came easy after two years of therapy and not seeing the progress they had hoped for. Prior to that, his parents tried everything they could but eventually came to the decision fed is best. Major’s feeding tube surgery went perfectly! He woke up happy and in no pain, the next day Major was army crawling on the floor playing. No matter how hard his mom tried to get him to rest he wanted to play with his siblings! Major has now had a G-tube for over two years and it has helped not just with his weight gain but his development as a whole. Getting him a feeding tube was the best decision to ensure he was getting the nutrition he needs to thrive.
Major has spent years in intense therapy doing Physical therapy, occupational therapy, feeding/speech therapy and Hippotherapy. The progress he has made is absolutely incredible! When his parent’s received his diagnosis they were told that they would need to alter their entire life and plan on being a full time caregiver for the rest of his life. God and Major had other plans and he has beat all of the odds! Major is the most determined, energetic, loving, sweet, thoughtful, smart little boy that you will ever meet. Anyone who meets Major is impacted by the light he has shinning from him (his smile also will get you every time). His parents have never seen a child work so hard on life skills and no matter how hard therapy is, or how hard a task is he will practice over and over and over again until he gets it right. Although Major needs a lot of assistance he is also stubbornly independent and no matter how hard the task he likes to try to figure it out himself without getting help from others.
Major’s neurologist was right about one thing; his family’s life did change drastically. They received a blessing of being the parents to a child that showed them a new way to view life. To not take things for granted. To set your goals and go after them. But most of all he taught them that you can be truly happy in any situation with the right mindset. We look forward to watching Major continue to achieve his goals and impact others around him.
