The Special Specialists That Help Manage My Son’s Health

Some doctors specialize in one field of medicine, which requires them to go through even more education and training. My son, Cayden, sees many different specialists, including a metabolism specialist, pulmonologist, cardiologist, gastroenterologist, nutritionist, otolaryngologist (ENT), and orthopedist. 

Each of these specialists serves a different purpose. For instance, metabolic disease doctors manage his infantile-onset Pompe disease. We see this team and complete a clinical evaluation where they ask a bunch of questions. Then, they do routine lab work to see what’s going on inside of Cayden’s body. This team of doctors also handles his weekly enzyme replacement infusions. 

We see a pulmonologist for anything respiratory-related. Pompe disease has weakened Cayden’s lungs and diaphragm. He has to sleep with a BiPAP machine every night. We also have to give him breathing treatments once or twice a day, which involves using a cough-assist machine and suction machine.

Sleep studies have become a part of Cayden’s routine care as well so that we can make sure the BiPAP still provides enough support. Getting a toddler to use a BiPAP machine was a true challenge, but he’s gotten much better about it over time. 

Infantile-onset Pompe disease affects the heart. At just 1 month old, Cayden was diagnosed with moderate to severe heart failure. This was due to the hypertrophic cardiomyopathy that his Pompe disease causes. Getting that news shocked me. How could my perfect baby boy have a heart that barely works?

Thankfully, the enzyme replacement infusions helped his heart significantly. Three years later, his cardiologist is amazed. She’s expressed many times that his heart is beautiful, and you’d never be able to tell that it was performing so poorly years ago. 

A gastroenterologist deals with his stomach and feeding tube. Cayden had an NG tube between the ages of 1 and 6 months old. After that, we decided it was best to get a G-tube surgically placed because oral eating is a challenge for him.

Pompe disease can weaken all of the muscles, including those used for eating. A feeding tube is necessary due to aspiration. Instead of swallowing food properly, Cayden’s food would go into his lungs, which was a major risk we weren’t willing to take. The G-tube was a game changer. I was terrified for him to get the surgery, but in the end, it was the right decision. 

In order to keep Cayden at a healthy weight, we see a nutritionist. She manages his food and fluid intake. Together, we’ve been able to keep him at a healthy weight by feeding him real foods. One may wonder how you can get real food through a feeding tube, rather than just using formula. The answer is simple: Blend the food up! We use prepackaged, already blended meals on a daily basis. However, I blend him up meals that I’ve prepared, too. For us, the feeding tube doesn’t change anything. It has kept him fed and thriving for the past three years.

Cayden sees an otolaryngologist for his ears, as Pompe disease can sometimes affect an individual’s hearing. This wasn’t the case for us, but the ENT doctor is still an important part of our care team. At 2 1/2, Cayden had tubes placed in his ears due to fluid buildup that just wouldn’t drain. The fluid affected his hearing and caused recurrent ear infections. Ouch! Since getting the tubes placed, his hearing has improved and ear infections have become a thing of the past. 

Lastly, we see the orthopedic team. An orthopedic doctor specializes in the musculoskeletal system. Pompe disease has left Cayden unable to walk, which affects the development of his hips and legs.

Last November, we decided to go through with a surgery to help his hips. He had contractures in both hips, which caused the tendons to become very tight. Constantly being in pain is never fun, and it was hard to watch my son go through that. During the bilateral anterior hip flexor release surgery, the doctor made an incision in both hips and snipped the tight tendons so that they were able to loosen up again. Recovery was rough, but once Cayden was healed up, I was so happy that we went through with the surgery. 

I never expected my son to have to see so many specialists. However, one by one they have helped shape him into the 3-year-old he is today. I cannot appreciate these doctors enough for keeping my son alive and healthy. The end of a visit isn’t really the end; we will be back eventually. That’s OK. There’s no harm in saying, “Until next time” instead of “Goodbye.”

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Note: Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Pompe Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Pompe disease.