Medical Story

Looking back, Tommy’s delivery was long and difficult. When he finally arrived, the doctor was surprised by his high birth weight (he weighed 10 lbs 5 oz). When he was handed to me, I was struck by his beautiful eyes and his forehead — it looked different to me. He was jaundiced, but keeping him by a window took care of that. He was not great at nursing like my other kids. As he grew, the only unusual thing that we noticed about Tommy was that he was always congested. With an older brother and sister in the house who might be bringing home germs, we were told, this was not unusual. At 6 months old, his pediatrician was concerned that his head was growing rapidly when she checked its size with a tape measure. Thankfully, a head sonogram and later an MRI of the head were normal except for minimal external hydrocephalus. This condition unlike other forms of hydrocephalus, we were told, was not a concern and would probably go away by itself. We were not concerned.

At 8-months old, Tommy got sick for the first time. We really did not think anything of it. Except that when we tried to cancel a routine check up with his doctor because he was sick (who wants to go through all that hassle with a sick baby), the doctor’s office rightly convinced us to come in and within half an hour we were in an ambulance headed to the hospital for respiratory distress. We were in the hospital for a total of 9 days on oxygen and other medications. Tommy had RSV, a bronchial virus that can be tough for some babies. Around day 4 of our stay, we had a disagreement with one of the doctors in Tommy’s pediatric practice who we felt wanted to release Tommy from the hospital prematurely. He left Tommy in the hospital but took him off oxygen and then was unreachable during the night when the nurses felt that Tommy needed oxygen and were getting a ventilator ready in the event he needed help breathing. We were furious, and so were the nurses. His view was that the majority of the kids that have RSV do fine at home after day 4. We now know that Tommy rarely behaves like the majority of other kids and any doctor that doesn’t take a close look or isn’t willing to listen, will not be a good doctor for Tommy. After that, we found a pediatrician who is amazing, and she has been by Tommy’s side day and night since.

For the next year, Tommy’s life was severely restricted. The RSV, doctors explained to us, caused a lot of inflammation in Tommy’s lungs as a result of which he might have chronic asthma and croup for years to come. This second year of Tommy’s life was punctuated by constant nebulizing, chest physical therapy (which has turned out to be critical to Tommy’s lung health), and steaming him in our bathroom. We were in touch with his pediatrician (the new, fantastic one) daily. He started speech therapy and physical therapy twice a week at our house on the advice of my new pediatrician. His diagnosis of external hydrocephalus enabled him to get the therapies through the states Early Intervention program. We were in and out of the hospital a couple of times for the asthma when it was unavoidable, but we managed his asthma mostly at home with my pediatrician’s constant care. One night he stopped breathing and an ambulance came. Two nights later he was hospitalized. I went for a jog one day without my cell phone, and when I came home my pediatrician was urgently trying to reach me since she had heard Tommy breathing over the phone and he needed medicines immediately. There were no breaks. During the winter, Tommy got monthly injections typically given to premature babies, to prevent RSV. His activities were severely restricted. He could not be out when it was too cold or hot and we had to make sure he did not get sick because all these things triggered his asthma. Our family was stuck in the house a lot. We were exhausted.

His chronic congestion was now aggravating his asthma. Tommy also does not know how to blow his nose or cough productively so that the congestion would just sit. We had his eye ducts opened and his adenoids removed hoping this might help. The adenoids were ”grossly” enlarged, according to the surgeon, and Tommy had had an asthma attack mid surgery which required hospitalization. We left that hospital in the middle of the night against doctor’s orders (but in consultation with his pediatrician) because nobody was coming to give him his nebulizer treatments for asthma. A year later, Tommy was scheduled to have ear tubes put in by the same doctor-anesthesia team. They did not proceed with the surgery on the day it was scheduled because they did not feel his lungs were clear enough. We thank them for that because he started wheezing later that day and was sick for several weeks.

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 (daily long walks, which he loves, also help with the constipation). 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 generally refuses crunchy or hard foods (e.g. raw vegetables and fruits except bananas).  At age 6 Tommy started eating grapes and apples.  Though he has significantly improved with age, we have to be careful that he does not aspirate while eating since coordinating chewing and swallowing can be a problem for him.  He has strong food aversions, will gag if he sees something he doesn’t like and gets reflux (and will throw up) from food that is too acidic, greasy or not well prepared.

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.  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.  It was exhausting.   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 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 steaming and chest physical therapy are 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.

Tommy’s enlarged tonsils:

 

Around age 5, Tommy started having skin rashes and eczema, and would suddenly break out in large hives all over his face and body. We went to doctors, adjusted his medications, and gave him lots of antihistamines. But the problem seemed to get worse. His skin looked burnt and cracked, and felt like sandpaper.  Tommy was miserable and frustrated.  He could not sleep.  That summer, we had to put him on prednisone, an oral steroid, to reduce the skin inflammation.  He had to stay in the airconditioning most of that summer to prevent flare ups. We learned to treat his skin with moisture creams 2 or 3 times a day and over the counter cortisone in the spring and summer to keep his skin as healthy as possible since it is a problem that once it starts gets worse and worse (Tommy will scratch his skin raw in spite of our efforts not to let him do that).  It is really a daily struggle in the spring and summer when the environmental allergens are high.  It is the one thing that makes him miserable, frustrated and angry.

Tommy also has two lymphangiomas which we understand are malformations of the lymph area. They are under his left arm and at the top of his left leg. They are followed by a surgeon.

In the summer of 2010, we went to see Dr Charis Eng at the Cleveland Clinic. The National Institute of Health gave us her name when Tommy’s grandfather contacted them to see what else we could learn about Bannayan Riley Ruvalcaba Syndrome. Dr. Eng discovered the PTEN gene mutation responsible for Tommy’s syndrome. This was the first time that we were meeting with someone who had seen other patients with the same condition. Dr Eng explained to us that although there is no published information yet she believes Tommy’s lung, tonsil, and skin conditions are related to the mutation. Since a PTEN mutation causes an overgrowth of cells, she believes that Tommy’s sinus and airway passages might have thicker walls and therefore a thinner space for air and mucous to pass. Thus causing clogging and plugs. The passages that bring moisture to the skin are probably suffering the same problem. We raised with Dr Eng that Tommy has frequent bowel movements. She mentioned that she suspects patients with a PTEN mutation may have “lazy nerves” and it is difficult for them to coordinate the movements required for a full bowel movement.

Separately, Dr Eng mentioned that in general certain benign growths and lesions should not be removed in patients with a PTEN mutation as they tend to regrow even larger (examples were lesions of the mouth, face and hands that have not been seen to become malignant). Of course, these should be checked and followed by a doctor. She was pleased that Tommy had a full tonsillectomy because if any tonsil tissue had been left behind (as would be the case with a partial tonsillectomy), the chances of regrowth were far greater. She also mentioned that if Tommy’s thyroid ever needs to be removed for a malignancy, it should be removed in full as they have not had much success with partial removals (the thyroid regrows with the malignancy). Because thyroid problems are so common in patients with a PTEN mutation, we had a baseline sonogram done of Tommy’s thyroid. Regular thyroid sonograms are recommended beginning at age 18 for patients with a PTEN mutation (there are other additional screening guidelines for patients with a PTEN mutation). Finally, she explained to us that she has a theory that patients with a PTEN mutation metabolize medicine faster than the average population. Tommy is participating in two studies being conducted by Dr Eng.

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Archived Responses

Thank you for all the responses we have received!  They have really helped us.  Due to technical problems, we lost all the responses on the site but sought  to reinput comments sharing or seeking medical information.

Suzanne – September 3, 2010

Thanks for all of this information. I am going to send a facebook friend from the BRRS group the link, as her little boy has also experienced some failure to thrive as well as breathing difficulties.

Ruby Cichocki – September 4, 2010

Thank you for posting such important information. BRR parents run into much trouble because the general medical population has little or no exposure to BRR. Such information educates and give families avenues that may yet to be explored. Best wishes,
Ruby Cichocki

Irene – September 5, 2010

Thank you for the important information. My son has been dealing with this since he was 11 months and now almost 3 yrs old.

Lucy – September 6, 2010

Hi Irene, Will you share your son’s symptoms? Trying to come up with a list of all the issues BRRS patients have encountered, whether they are confirmed to be part of the syndrome or not. Thanks, Lucy

Irene – September 9, 2010

Development delays, seizures, low muscle tone, bowel movement problems, large head 55 cm , almost every child with Brr syndrome their face, eyes and nose are the same. My son is thin and tall. The top of him is bigger then the bottom of him. Legs are thin. Feeding, texture issues. The winter is the worst for him a lot breathing treatments and in and out the doctor offices. Swallowing and chocking issues. I sure I have forgot something but here a start.

Lucy – September 10, 2010

Thanks. I hope your experience is like ours in that Tommy’s respiratory issues began to significantly improve starting at around age 4. Before that, he was restricted to our house most of the time in the winter and if he was healthy enough to go out we covered his mouth and nose to move him from our house, to a car, to the next indoor location. This past winter he went sledding and played in the snow. This summer he put his head under the water at the pool. If you ever want to compare notes, I think you have my email and I would be happy to give you my phone number. Lucy

Irene – September 10, 2010

Zack hasn’t been able to go outside to play in the snow because always sick during the winter. I hope he will be able to go sledding and play in the snow this year. That is one of my goals this winter. Summer went really good this year went swimming at a water park. Scared me to death because he has no sense of fear. I had to bring an army of friends and family but we did it. Went camping and he got sick afterward but we did it. Now we are dealing with a mass in testicle. Don’t if it is a fatty tumor or not. Now we have wait on a doctor to call us back with an appointment. I try not to loss hope or the fight but some days its very hard. I would love to speak with you through e-mail and a phone number. All the info will help any family going through this. Since there isn’t a lot of info on this syndrome.

Lucy – September 10, 2010

We found lumps and bumps that needed to be checked out and monitored too. Two turned out to be lymphoangiomas. Another I found under his belly button as he was going into surgery. His pediatrician measured it (under 3 cm) and thought it was a lipoma. We followed it, but now we can’t find it anymore. Running from one emergency to the next every day is very debilitating to put it mildly. But keep the hope. If you can get “Changed by a Child; Companion Notes for Parents of a Child With a Disability” by Barbara Gill I really recommend it. It is a night table book, with one parent’s story per page. It helped me a lot (as did chocolates, not answering the phone and wine). I will email you my details today. Please comment if you don’t get them. Lucy

Irene – September 10, 2010

I got your email address. Thanks a million. I will check that book out.

Muriel – September 27, 2010

Hi,
Thanks for all these informations. My son is 13. diagnosed at 9 (BBRS).He has rather good health today. He was sick as well in winter, and had an infection at 9 (bronchiole); I think, because hypotonia, his cough wasn’t strong enough.After 10 it was alright with that.He had very big tonsils and adenoïds removed at 6 yars old, better then for sleeping. He used to swallow food whithout chewing, in the morning, I sometimes found him sleeping his head in the vomit with full pasta. He’s got an arterio veinous malformation wich hurts since he’s 9.I’ll send you a picture.another doctor calls it “veinous hamartoma”.vitiligo.Lack of coordination on the right. read books, he goes to library, but sometimes he forgets and read the same book 3 times.He likes swords, spears and my broomstick.He seems having promblems with relationship, prefers to be with adults and little children.I remember He’s got a bump on rib that I could see…has not anymore, that is still a mystery for me.I remember a pediatrician who told me when he was two month : “you will have to stimulate your child during all his life”…he was right.

Lucy – September 27, 2010

Hi Muriel, Thanks for commenting and sharing the information about your son. Do you mind if I put his details up along with the picture on the front page of the website. I’m hoping that by listing all our children with their BRRS issues we might learn from each other and help new parents. Let me know. Also, I wanted to let you know that Tommy would not eat solid foods until age 2. He is still picky about textures and doesn’t like to chew very much, or things that are crunchy or hard. I think it’s too much work. Lucy

Muriel – September 27, 2010

Too much work to chew food, I think so. I had to look after this all the time, like tell him each time to drink slowly.during years.He couldn’t cut whih a knife, or turn the tops in the good way, put the towels onto the lines, difficult to copy. The occupationnal theapist was great and he progresses a lot, as to write.how can I give you the photo? I don’t mind you put the details, but thanks to correct my mistakes (I’m french). I created agroup on fcbook
“syndrome de bannayan riley ruvalcaba”, where you will see the photo.Muriel.

Lucy – October 2, 2010

Muriel, I spoke with the Cleveland Clinic and they believe that the following centers in France should know PTEN syndromes just in case you want to get in touch with them.
Institut Curie in Paris – Dr. Lyonnet
Institut Bergonie in Bordeaux – Prof Longy
Lucy

2 Responses

  1. Heather Kruger - September 8, 2012

    I just wanted to let people know some of the problems we have had with our daughter who has BRRS because they are all related and not always mentioned of things to watch out for or at least not at the early age she has had problems. She had to have her complete thyroid removed due to a nodule at age 9. She started having polyops in her colon around the same time. She has a colonoscopy every year or more and they have always found stuff to remove. She has many neuro issues all secondary to the BRRS – pseudo tumor cerebri, hydrocephelus, chiari malformation and most recently found she had a crazy huge AVM(arteriovenous malformation) and several aneurysms. Hope that helps someone! Heather Kruger 8krugers@gmail.com

  2. PTENLife - September 8, 2012

    Thank you.

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