Medical Story – Page 2

At some point, Tommy stopped thriving. This was really a very scary time. He stopped growing and gaining weight and his reflexes were difficult to find. Our pediatrician gave us the name of a new neurologist (our first one never gave us any feedback). He was candid and said that our son did not act like other children he had seen with autism. So we would go in search of his particular issue, but it would be like finding a needle in a haystack should we be lucky. He sent us to a metabolic disease clinic at Mt Sinai to see if we could identify Tommy’s problem. The metabolic disease clinic sees one patient a day. Tommy was their only case that day. It was lucky that on the same floor, was Mt Sinai’s genetics clinic. When we met the doctors, they brought in their genetics neighbors. Everyone was puzzled until the senior geneticist saw us changing Tommy’s diaper and noticed the freckling on his penis. Tommy had Bannayan Riley Ruvalcaba syndrome and we would do a blood test to confirm it. She also noted that although Tommy’s reflexes were weak, they were there. He was not thriving because of the weight of his medical issues. We focused on his diet and getting him healthy.

We learned that Tommy’s diet is very important to his health. Tommy needs to have oatmeal daily or he becomes constipated. He needs three hearty, healthy meals each day or he becomes lethargic. Tommy, who did not eat solid foods until he was 2, prefers softer textures and often likes to swallow without chewing thoroughly. He refuses crunchy or hard foods (e.g. most raw vegetables).

We kept looking for reasons for the congestion. In addition to the asthma, now Tommy’s left lung would stop functioning at certain times. Air would not go in or out. It did not collapse and there were no symptoms like wheezing or coughing. It was lucky we caught it. A visiting nurse came to our house to see if we were eligible for some nursing care at home through our health insurance (we were not). The nurse had been an ER nurse and she listened to Tommy’s lungs as part of the interview. Because she could not hear any air in the left lung, she immediately sent us to Tommy’s pediatrician who then sent us to Tommy’s pulmonologist in New York City. I just remember thinking that I couldn’t do this anymore. I was too tired. I left messages with 3 friends to please pick up my older kids at school hoping one of them would get the message (all three showed up much to everyone’s confusion at the pre school). We ran into the City where an X ray showed that there were no visible reasons why the left lung would do this. The right lung was distended as it tried to carry more oxygen and his organs were being pushed left by the right lung. We took Tommy home and stayed up day and night nebulizing, steaming, giving chest physical therapy, giving prednisone (use the “real whiskey” the pulmonologist advised, rather than the generic form of the oral steroid, in the face of such a significant problem) and just watching him until the lung would start working again. Tommy’s grandmother would come over some nights to help us. Of course, our fear was that the right lung would suddenly stop working too. The pulmonologist showed us how to use a stethoscope so that we could check his lungs as there were no other obvious symptoms when his lung stopped working. The left lung stopped working over and over again, and we went through this emergency drill over and over again. The pulmonologist suspected that Tommy had mucous plugs that were not showing up on the X ray and were preventing the air from getting in and out of the lung. We did allergy tests, sinus CT scans, a sweat test to rule out cystic fibrosis, a barium swallow test to see if the food was going into his lungs stimulating mucous and, when Tommy’s pulmonologist decided that Tommy finally ”had us against the ropes”, a bronchioscopy. The bronchioscopy (they put a camera in the lung and suction mucous as they go) showed no food protein, no cystic fibrosis bacteria, but there was redness, swelling and congestion. We really expected Tommy to be hospitalized after the procedure because we assumed he would have problems with the procedure. But it went extremely well and Tommy was released right after. We came home to find a friend of ours keeping Tommy’s grandmother company until she heard from us. We don’t know why, but after the bronchioscopy, Tommy’s lungs improved. We still had to be very cautions that Tommy was not exposed to too much heat, or cold, or sick people and continue our daily and nightly therapies but the crises were more manageable and less extreme. We have found that daily chest physical therapy is very important to Tommy’s lung health.

Somewhere in all of this, Tommy’s tonsils started to grow. We went to his pediatrician, two ENTs and Tommy’s pulmonologist over and over on this issue. Everyone agreed that it was better to wait and see if the tonsils would stop growing on their own since operating on Tommy was dangerous due to his asthma. With congestion blocking his nose and the tonsils blocking his mouth, he was having trouble breathing. He would stop breathing briefly during the night and needed to be moved into positions where he could breathe better. Again, we were watching him all night long and we were exhausted. We took a video of this to show the doctors. It got to the point where there were at most 2 centimeters left between his tonsils and they protruded from his mouth when he opened it. Everyone agreed that surgery was inevitable. An amazing team of doctors did something incredible which was that they did not put an anesthesia tube into Tommy’s lungs for the procedure. They left the tube at the top of his lungs. They were concerned that fully intubating Tommy would trigger his asthma; on the other hand, since they were working in his airway, not having a tube into his lungs to provide air and medicine was dangerous. They did a full tonsillectomy rather than a partial which is typically done now so that the patient recovers faster. The doctor was concerned that the tonsil tissue would regrow if it was not fully removed. He also warned us that post operative care would be “hell” for a kid like Tommy. He was right on the mark. Tommy was hospitalized for a few nights as he would not take any fluids after the surgery and it took him months to recover from the surgery.

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