Tommy Dabinett is a sweet and happy 7-year old boy with a full head of black hair and big blue eyes. When he was born in 2004 we were so happy to be handed a healthy baby. All the medical diagnostic tests confirmed that, and he looked perfect. But at age one, his medical and developmental issues began. They started slowly and subtly, and we were surprised with each new problem. At age one, he started speech and physical therapy through the state’s Early Intervention program because of a diagnosis of benign external hydrocephalus from a head MRI that was otherwise normal. At age two, he was officially diagnosed with Pervasive Developmental Delays — Not Otherwise Specified (PDD-NOS) and we added more therapies. PDD-NOS is a condition on the Autism Spectrum in which individuals demonstrate multiple symptoms associated with Autism (characterized by difficulties with social interaction, problems with verbal and non verbal communication and repetitive behaviors or narrow, obsessive interests) but of a scope or severity lower than in patients who meet full criteria for Autism. At age three, we learned by chance that Tommy has Bannayan Riley Ruvalcaba Syndrome (BRRS) , a PTEN gene mutation. A PTEN gene mutation causes tumors and growths in the body (particluarly in the thyroid and GI tract) since it is the tumor suppressor gene. According to published medical literature, other characteristics of the syndrome include macrocephaly (large head), low muscle tone, excessive drooling, vascular malformations, lipomatosis, hemangiomas, intestinal polyposis, high birth weight, proximal muscle myopathy, joint hyperextensibility, pectus excavatum, scoliosis , certain eye abnormalities, and in some cases developmental issues (which may meet the criteria for Autism) and mental retardation. Brown spots in the genital area are also characteristic. Certain benign skin lesions on the face, mouth, hands and feet are also characteristic (oral lesions, facial papules, and acral and palmoplantar keratoses). A person with a PTEN mutation may have some, all or none of these issues, and in varying degrees of severity. Tommy has a very large head, very low muscle tone, severe developmental and cognitive issues, two lymphangiomas and freckling on his penis. He needs assistance to do everything. He is not potty trained and he needs to be supervised around the clock for his own safety. He puts everything he finds in his mouth. He has limited and inconsistent language. He knows familiar people and his routine, but apart from that he lives entirely in the moment. He stims constantly and loves to watch Dora the Explorer shows over and over. He does not sleep much at night.
Tommy also has asthma, skin rashes, enlarged tonsils and adenoids that were removed, and gastrointestinal issues all of which did not seem to be linked to BRRS according to published literature. These are issues that we struggle with daily; yet the treatments for these issues that work for other children were simply not helping Tommy. 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 BRRS. 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, given her experience meeting with BRRS patients, she believes Tommy’s lung, tonsil, skin and gastrointestinal conditions are related to the PTEN mutation. It was so helpful to finally understand what we were dealing with. We realized how little is widely known about this syndrome, that research is still undergoing to understand the full scope of the syndrome, and that the doctors involved in research (at the forefront of which is Dr Eng) may already see unreported patterns or trends. See “Medical Story“. Tommy is participating in two studies being conducted by Dr Eng.
In addition, Tommy had a full psychological and developmental work up at the Cleveland Clinic Center for Autism as part of an Autism study being led by Dr. Thomas Frazier. Dr Frazier provides families with a complimentary write-up of the results and treatment recommendations. That study concluded that Tommy has Significant Autism Symptoms. For persons with PTEN mutation and Autism, researchers at the Cleveland Clinic informed us that developmental progress has been extremely varied and unpredictable. See “Developmental Story“.
This site is devoted to our family’s experience learning about and living with Tommy’s BRRS. Because there is so little available information about and experience with BRRS in the medical community, we understand the struggle in getting a diagnosis and then treating both the issues that are understood by the medical community to be part of the syndrome (such as GI polyps) and the issues that are not yet understood to be part of the syndrome but might be (such as, perhaps, respiratory issues). We believe that by sharing our story, and hearing from others with BRRS, we might help all of us understand the issues we might face. We believe this is helpful even if, after research is complete, some of these issues prove to be unrelated to BRRS.
If you have BRRS or a PTEN mutation, we would appreciate hearing your story. Below are some of the people we have met from around the world and what we have learned. You can contact us at firstname.lastname@example.org. To chat with other BRRS parents/patients, please go to http://www.facebook.com/group.php?gid=246481759870&v=wall.
Meet Ezra, he looks and acts just like my son Tommy. He has BRRS too. His mother, Suzanne, made this incredible and informative video about her son’s BRRS symptoms.
Meet Bryce. He passed away in 2005. He had BRRS too. To help us understand her son’s BRRS symptoms, his mother Ruby wrote us the following note:
“The love of our lives was a big 8 lb. 3 oz. boy. Brown eyes and brown hair. My husband and I each thought he looked like the other parent. He had a mottling that started at his abdomen and went half way down his right leg at birth. Other than that there were no obvious signs of anything being wrong with him. At 6 months he developed a hemangioma on the right side of his chest. From there we had a battery of tests and appts. That ranged from physical evaluation to mris. At 2 ½ Bryce had a prolapsed bowel due to polyps throughout his lower colon. This occurred 3 times in a row at 8 week intervals. He ended up having his lower colon resected to stop the prolapses. Kidney issues developed at this point and he went on medication to combat it. He took meds for it the rest of his life. At 3 he was also tentatively diagnosed with BRR. We receive confirmation of that diagnosis when Bryce had his blood tested genetically at 8 years old. Around that same time, the arterial vascular malformations that he had in his pelvic area and buttocks started to inflame and cause him a lot of pain. At much arguing with Kaiser Permamente about who should treat this, we ended up seeing Dr. Wayne Yakes in Englewood CO. We loved that doctor! Things stayed pretty stable right until Bryce turned 12. Everything that we were dealing with health wise created a domino effect and Bryces health crashed. He went into DIC and we almost lost him. The next two years involved multiple hospital stays, a hip disarticulation and a Make-A-Wish trip. We lost him November 27th 2005.
That all being said, what you haven’t heard is the fun stuff. Every milestone was a great event. He was actually 90% normal for most of his life. He mainstreamed at school. He could read before he started kindergarten and he inherited his Star Wars Mania from his father. He was smart , funny and sarcastic. After his health crashed in the the 6th grade, I had to pay a lot of attention to what was going on at his school , cause he had the staff wrapped around his finger and wasn’t afraid to use it to his benefit I was truly blessed cause Bryce’s older brothers treated him like their rotten younger brother, and that had more to do with Bryces attitude being “normal” than anything I or my husband ever could have done. Life with him was truly an adventure and worth every hard thing it took to keep him with us. We were blessed to have him. We gladly share Bryce with any and all in the hopes that it may have some value to others that are going through similar situations.
Ruby Cichocki” September 26, 2010
More on Bryce’s incredible story:
We met Zack. He is going to be 3 years old and has BRRS. His mother, Irene, wrote that his symptoms are: “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 choking issues. I sure I have forgot something but here a start.” Zack also has five lipomas on his back, chest and stomach. One has been operated and regrows. He has a mass in his genital area that is being checked but his doctors so far have been unable to diagnose. He needs to take a stool softener every day or he becomes constipated. He has trouble keeping weight on. The lining of his nose is “thick”, Irene was told by doctors. Zack’s hips are popping — joint issues that may be related to BRRS. He was born with a black mole on his foot that was removed and was pre cancerous. He is followed closesly by a dermatologist. Also at birth he had a black spot on his tongue that went away. See “Zack’s Story”
We met Muriel who told us about her son: My son is 13 years old. He was diagnosed at 9 (BBRS). He is in relatively good health today. He was sick as well in winter, and had respiratory infection at 9. I think that, because of hypotonia, his cough wasn’t strong enough. After age 10 he was alright with that. He had very big tonsils and adenoïds removed at 6 years old, which improved his sleeping. He used to swallow food without chewing. In the morning, I sometimes found him sleeping with his head in the vomit full of pasta. He’s got an arteriovenous malformation which hurts to the touch since he was 9 (see picture above). Another doctor called it “veinous hamartoma”. He has lack of coordination on the right. He reads books and goes to the library, but sometimes he forgets and read the same book 3 times. He likes swords, spears and my broomstick. He seems to have problems with relationships; he prefers to be with adults and little children. He had a bump on rib that I could see, but not anymore. 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.
We met Briana. Her mother Kathleen writes “When Briana was 2 mos old the doctor was alarmed at the size of her head. Briana had a Ct scan done. That luckily came back normal. She had an MRI done at 5 mos old which did not come back normal nothing to be alarmed about now. She was admitted into Children’s hospital at 3 mos age because she did not gain weight like she should have. Found out there she did not have the muscle tone like a “normal” baby. She stayed for about a week. She was tested for all kinds of things when she was 9 mos old all of them came back normal. When she was 2 and a half we found out Briana has BRRS. It explained some things like her tonsils which were taken out at 2 yrs because poor thing just could not sleep threw the night and hard just the hardest time breathing. Briana is VERY tall for her age she is 3 years old but upon first appearance you would think she was 4-5 years old easily. She does speak very good for her age. I am blessed she is doing as great as she is. I am so blessed to have her in my life. My husband and I were tested for BRRS neither one of us has it so we are unsure how she acquired it not really all that interested at this point either. I have 3 other children 2 older and 1 younger who does not have it. Right now we are unsure if Briana has a possible swollen optic nerve which is associated with BRRS. She is going to have a lumbar puncture to see what is going on and is going to have her an MRI done this month which makes it her third one in her life. She gets constipated a lot have found taking her on regular walks helps with that plus her diet. I do not know what is in store for her future so I try to enjoy every moment I can with her.” See “Briana’s Story”
Nathaniel’s mom, Trish, wrote “Greetings from another mom of a son living with PTEN gene mutation. We have a long, complicated, and difficult story, as well. In fact, our 4-yr-old Nathaniel just has a bowel resection last week, due to a “large, nearly lumen-filling mass,” as well as hundreds of intestinal polyps. I look forward to being in touch with a community of folks who actually know what I’m talking about!” She also wrote “It seems that each PTEN gene mutation case is different. Nathaniel does not have autism, down-slanted eyes, or discoloration of the skin of his penis. He does have two tiny skin-colored bumps on his fingers (acral keratoses), but these would go largely unnoticed by most people.” After visiting Dr. Eng at the Cleveland Clinic in December 2010, Trish learned that all but one of Nathaniel’s hundreds of polyps may not be “real” polyps at risk for developing cancer. In addition, researchers at the Cleveland Clinic are considering whether an earlier diagnosis of Celiac Disease for Nathaniel may in fact just be the effects of BRRS on Nathaniel’s intestines mimicking the symptoms of Celiac Disease. See “Nathaniel’s Story”
His mother Frances wrote about her 15 year old son ”Just like to add I have read your website with tears in my eyes…wow..’at last’ springs to mind! We are a family in England (GB) and have a 15 year old son with BRRS. Our journey has been long, scary and had more twists and turns then a roller coaster!! I truly don’t know where to start..he was born naturally with a large head..39 cms..and initially they thought he had hydochephalus (excuse the spelling) which the ultasound scan came back normal, he then did not hit the developmental milestones which he should have done as he got older.(He has not been tested for autism but he has his routines which make him feel safe in his own world). He didn’t walk until he was 2 year 2 and half months, communication skills were and still are very limited and he repeats so much in his own language. His head grew at a rapid rate and developed his first lipoma at the age of 3 on his hip (he has several else where now) and had it removed aswell as his tonsils and adenoids at the age of 4 as they were very large and grape like. He also has a lumpy/bobbly tongue, I don’t know the medical term for this but I think it is a characteristic of the condition. We were introduced to our genetics department and she viewed our family history and suggested BRRS. His blood was sent away and as it was ‘researched based’ it took 3 years for the results to come back..and at that it came back inconclusive but they confirmed the clinical diagnosis of BRRS. We did eventually, as a family a couple of years later, got introduced to another genetics team and they tested my sons blood and it came back posistive so at least we got a medical diagnosis!! For a while we met yearly with the doctors and felt very much in the dark with the condition and for a while we felt they concentrated on his learning disability more than the medical side. At many meetings I felt I knew more than the doctors!! It sometimes feels the less they know about a condition the less they acknowledge the importance of it. When my son turned 12 we noticed a lump on his neck..he had a large lump on his thyroid. He had an ultasound scan and they confirmed he had to have a full thyroidectomy. He was an absolute star, he tolerated so much and its hard to keep a situation like that so calm for a special needs child..in a way it was a blessing as we didn’t have to sit him down and explain the fact why he had the operation and that the lump was getting tested for cancer..after a 3 week pathology test thank god it came back non cancerous…the longest 3 weeks of our lives, it took that long as they did find something unusual and it had to be sent to another lab to get further testing. He now takes life time medication, thyroxine. 5 months after that we found a lump (lipoma) under his right axillia, arm pit, we now have to have an mri done every year, the oncologist said it cannot be removed as its wrapped around his neurovascular bundle and it will be too complicated..he does show discomfort by holding his arm above his head but he cannot communicate how he feels so its hard for us to know when to give him pain relief. He this summer has had a mri on his brain as he is shaking quite alot in both hands, they said there was no lumps or bumps on the brain to give any neurological reason for his shaking..though they did find some venous birthmarks on his brain. The shaking, our doctor said, is probably part of the condition and his developmental delay..though sometimes they give such a ‘loose’ answer as they dont know enough about the condition!
I have also discussed the fact that he can ‘fidget’ quite alot and rolls his eyes and face grimaces…they have only now referred him for an eeg…process of elimination. I suppose its true to say just because our special children can’t communicate how they feel they should never over look them!! We represent our son in medical and educational situations and we strive to get what treatment and testing he truly deserves…its quite exhausting. Just writing this helps me process all that we have been through and to know that those that will be reading it are in the same boat as us is very reassuring.
As well as my son’s screening and on going appointments I too have a thyroid problem, scanned twice a year and also breast mammograms yearly. Members of my close family have simular screening and have their own stories to tell..it makes us a very close family indeed and at times I wonder how we would have manged without their constant support!!!
I find it amazing that in America they seem to have more of an idea and knowledge about the condition then we have! I have a hunger to find out more as it is vitual for my son’s future! Dr Eng sounds so interesting and to talk to somebody that knows that fraction more would be so fulfilling…god my question list is so long!!
I feel I have only explained a small amount of our journey with BRRS and I’m sure there are many challenges ahead of us..but please we will be very interested to hear from you…Best wishes from across the atlantic!!”
“What an amazing site! Watching the video on youtube made us all cry because finally we found someone who looks like my niece!
Daisy is the most amazing little girl. She is 5 years old and was diagnosed as having PTEN last year after years of tests and scans. Her MRI was emailed around the world to various doctors and it was actually a Dr in Holland that noticed something wrong with her brain and that they should look at her DNA at the PTEN gene.
Her eyes and nose look exactly the same as the little boy on the front of this site.
We watched the video on youtube and it was scary seeing everything that Daisy does!
She has a large head, isn’t potty trained, only eats certain foods (toast, chips and chocolate) despite us trying everything to try and encourage her to eat something different.
She is unusually gifted with numbers and loves music. She can listen to a song once on the radio and remember the melody instantly.
She hates new people and until recently her speech was limited.
She is currently in a mainstreem primary school but we are trying to have her moved out into a “special” school where they will be better equipt to look after her.
She is a very tall little girl and is becoming very physically strong.
She LOVES Dora the Explorer and would watch it all day long if you let her! She also loves Pepper Pig and Team Umizumi.
We would love to hear from anyone living in the UK with a child with this condition. It would be good for my sister (Daisy’s Mum) to speak to others about what they have been through. She is a single mum and only 22 and I know she finds it really hard sometimes. Just being able to speak to other parents about some of the issues she has with Daisy would really help her feel like she isn’t alone.
It is a hreat website and just seeing another child that looks like my niece was really emotional. It is just nice to feel like we aren’t alone.
We met Orrie. In the words of his mom, Angela: “The crazy thing about all of it is, I knew that something was wrong with Orrie within the first month of his life. I was told several times that I was crazy and overprotective and a new parent that was just scared. I was even told by one doctor that I should have another child, because children with siblings thrive more than only children. I never let it go, because I knew in my heart something was different about my son. I am thankful that my “mothers intuition” was so strong. Orrie is a gorgeous 4 year old, who loves adults more than children, loves music and vegetables. He wants to give everyone kisses, even himself in the mirror. He is the sweetest most loving person I have ever met in my life, and I hope that he has a long and happy time on this earth. We are not religious people or believers of any kind, therefore I am depending on the medical research and screening to guide us on the journey we have before us.” See “Orrie’s Story”
We met Liam. In the words of his mother, Maria: “ My name is Maria and I have a son, Liam, who has BRRS/PTEN Harmatoma Tumor Syndrome and Autism. Liam is 6 years old and is a sweet good natured boy. At this time he is non-verbal (had language and lost it all by the age of 2) and affected quite severely by autism. He has low muscle tone, hyperflexibility, very large head (66.5 cms), lypoma on his back and thyroid nodules. He has had many tests (2 colonoscopies, 2 endoscopies, cat scans, mri’s , eeg’s, spinal tap). He has facial characteristics of the syndrome with the large forehead, no nose bridge, down slanting eyes. I love you dearly and I’m so proud of him and how hard he works everyday to gain skills and understand our world. Looking forward to getting to know you and your stories.”
We met little Halle. In the words of her father Emmanuel, “My daughter was born 5/5/09 and was 9lb 5oz at birth. Up until age 15 months everything was okay and on the 15 month checkup the doctor’s told us Halle’s Liver, spleen and Head size was enlarged.
After 6 months of tests we got our diagnosis. We originally thought lymphodystrophies but were relieved because kids with these conditions rarely live past 10 years old. We’re coping pretty good now.
I’m worried when she gets a little older, one of us (my wife) will have to quit working to take care of her full time.You can’t take your eyes all her for a minute or she will be into or on top of something.
We’re thinking of going to cleveland to see Dr Eng but for now she is seeing specialist at Kennedy Krierger at John Hopkins. Thanks for you wonderful post and I will stay in touch.”