Our Family

We are a family of five plus a dog. Andrew, Lucy, Andy (15), Olivia (13) and Tommy (11). We live in Rye, New York. We have a dog named Ivy (named after a bad case of poison ivy that Olivia had when we got the dog). Everyone’s life in our house has been changed by Tommy. There are often times that we have to change plans or cannot go out because of Tommy. We can’t travel easily and there are places we cannot go. There are countless doctors visits, therapists at the house, and there have been ambulances in the middle of the night. Andrew and I are often tired and cranky. We can fall asleep anywhere. Andy and Olivia help us with Tommy. They are great with him. We have great friends and family around us. Everything Tommy does is a thrill. The summer of 2010, he put his head under water for the first time.  We cheered and took pictures. He also started pointing when he wanted something. We found it so amusing and are thrilled every time. When he is inadvertently inappropriate, his brother and sister find him incredibly funny. We have all learned to live in Tommy’s world. Thank you Team Tommy!
May 2011

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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.

Laura DeForest – October 1, 2010

Hi Lucy and Andrew, This website is great. Hopefully it will help people who put in a search in Google after getting a diagnosis from a doctor. One question, how is autism related to PTen mutation? Laura

Eileen O’Connor – October 2, 2010

Lucy and Andrew – As a mother of a nine-year-old girl who has an autistic spectrum disorder, I found this website an inspiration. I am so moved and motivated by your diligence, commitment and bravery in sharing your story and experience and providing such vital information and resources to parents and care-givers who share your journey. As difficult as your days and nights can be — I hope it helps to know that you are not alone. Thank you for taking the time to do this and reminding me to get going and do more! xo Eileen

Lucy – October 2, 2010

Thanks Laura and Eileen, Our hope is to meet other people with PTEN mutation and help each other understand symptoms and treatments. With regard to the link between autism and PTEN mutation, I will do my best to explain my understanding. Current research indicates that about 20% of people with PTEN mutation have developmental delays and are on the autism spectrum, in varying degrees. Autism is a description of symptoms: communication delays, impaired social interaction and/or restricted and repetitive behaviors. The underlying causes of autism are many, just like a person with a cold may be sick because of any number of viruses. Because a PTEN mutation manifests itself so differently in each individual, it is believed that mutations in related genes may determine the manifestation and severity of the syndrome in a particular person including whether that person has autism and the severity of the autistic symptoms. So one theory is that a person with PTEN gene mutation plus related gene mutation that by itself may or may not be significant (and a gene that is yet to be found) results in a person with PTEN mutation plus autism. That same gene mutation may also work with other developmental disorders such as Fragile X to make a person with that underlying mutation have more severe autism characteristics. Thus finding that gene might help autism patients with different underlying mutations. When we asked one doctor whether the drug currently being studied by Seaside Therapeutics for Fragile X patients might help PTEN mutation patients with autism, he explained that although the disorders in the general class of developmental problems such as Fragile X syndrome and BRRS differ in their underlying mechanisms, they likely overlap in terms of various signaling pathways at some point down the line (maybe where this second gene comes into play) and might make trials of an agent useful in one disorder worth a try in the other depending on the side effects and risk/benefits.
For persons with PTEN mutation and autism, researchers at the Cleveland Clinic informed us that developmental progress has been extremely varied and unpredictable. Lucy

Trish Matson Buus – October 5, 2010

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!

Trish Matson Buus
TrishMatsonBuus@aol.com
Find us on Facebook, too! (Trish Matson Buus)

Lucy – October 5, 2010

Hi Trish, I am signing up for facebook so I can connect with the rest of the group. I will add a link to this website as a resource. I would appreciate the details of your son’s story if you are willing to share in a post here. My goal ultimately is to make a list of all the issues we have faced. I can see just by your son’s recent surgery that it is a complicated story. You can reach me at lucia_dabinett@hotmail.com. With regard to your question on the facebook page regarding Dr Charis Eng, I highly encourage you to see her if you can or at a minimum contact her. We contacted her and she set up a series of appointments for Tommy that targeted his particular issues and then she met with us at the end to discuss. We paid an insurance copay for the specialists; the appointment with Dr Eng was free because it was done as part of her study of PTEN patients. She is so knowledgeable to say the least; and a really interesting and nice person on top of that. Please feel free to contact me anytime. Hope your son is recovering well. Lucy

Trish Matson Buus – October 5, 2010

Lucy,

I hope to seeyou on Facebook soon!

So, your trip to see Dr. Eng… was it a one-time trip? Where do you live? I’m just not sure that it’s feasible for us to come all the way from South Dakota for Nathaniel to see her, especially considering our–to put it nicely–very active and temperamental 14-month-old daughter. I guess I’d like to have a better idea of how exactly we would benefit if we were to make the trip. Trish

Lucy – October 6, 2010

Trish, It was a one time trip this summer. I had the same concerns that you are having. We flew to Cleveland from Rye, New York and stayed for two nights. The days were jammed packed with appointments that Dr Eng’s office set up based on our prior discussion of Tommy’s particular issues (and we had forwarded all his medical records for their prior review, which took a lot of time and effort). It took a good 6 months to set up the trip so that it was quick and to the point. We saw an opthamologist (to rule out certain eye issues that are associated with BRRS), and an ENT and did a baseline thyroid sonogram which is advisable. We had a full (and free) developmental work up, and were issued a report with a developmental assessment of Tommy and developmental treatment recommendations going forward. It was not an easy trip for Tommy but worth it for us. My mother stayed home with my two older children. What we got was confirmation and advice on how to deal with Tommy’s issues given that they are not run of the mill respiratory, skin, GI and ENT issues, but BRRS related. A lot of our doctors here in NY got there anyway after a lot of trial and error, but Dr Eng’s team has seen this all before and can get there right away. They have also told us that we should consider them part of Tommy’s healthcare team, and we should feel free to call or email should he develop any new issues so that they can help us assess the best course of action. Maybe just get in touch with them by phone, express your concerns and see what you can do remotely. My father really pushed the trip; given how busy our house is and the amount of effort it takes to get Tommy through a day (and night), I don’t think I would have gotten there otherwise. By the way, Dr Eng is an extremely nice person. She was in NY recently and I met her for lunch. I told her about each of the children that I had met through the website at that point. She followed up with names of treatment centers in France for Muriel, and expressed concern about the lipoma Zach is having operated and the undiagnosed mass in his genital area (you should really have him come see me, she said). I’m not on the payroll or anything, I promise!!!! Best of luck with your decision, Lucy

Frances – October 20, 2010

Hi Lucy,
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!!

Lucy – October 21, 2010

Hi Frances, You are not alone! I sent you an email directing you to the BRRS Facebook group. It is a wonderful resource. In the meantime, I would love to hear more about your son, and post his story here with all his symptoms so that others can benefit from your story. I would sugget you email Dr Eng about Drs in your part of England. She is very responsive and could direct you to the PTEN experts closest to your area. If you are hesitant to do that but would like the information, I am happy to do it for you. Lucy

Trish – October 21, 2010

Oh, Frances… I wish you weren’t so far away! I just want to give you a big, big hug!! As Lucy said, you are not alone! Although all of our stories differ a bit, and most of us have not met, we can read each others words and know the emotions, fear, hope, and other feelings as if they were our own words. I look forward to hearing more from you. Gotta run…the baby’s waking up. Trish (Nathaniel’s mom)

Frances – October 21, 2010

Hi Lucy!
Firstly, I’m very thankful for your prompt reply to my entry on this webpage and my e-mail, its just so exciting in a way to communicate with families going through what we go through!!
Our genetics department is based in Newcastle and our specialist is called Prof. Judith Goodship. She has been open and honest and explained as much about the condition as she possibly knows and to her credit has been very approachable. She also introduced us to Prof. Temple from southhampton, who we saw once and it was her research that finally medically confirmed that our son had BRRS. I am really still interested in contacting Dr Eng via e-mail, I am sure she wouldn’t turn away any information on a patient that has a faulty PTEN gene disorder?? Maybe she could enlighten us with more details too??
Just to add I found it really interesting some of the comments from the families on this website, for instance the non chewing of food, swallowing/gulping quite hard and eating too quickly, our son has always done this, he doesn’t like certain textures of food, though he is a good eater!!!
Also my boy sneezes all the time, we put it down to hayfever or allergies but for all we know he could have a thinkening or some thing up his nose causing this?? Again due to his learning disability we will never get him to explain how he feels and this is so frustrating with any ailment he has. It worries me the fact that they can be prone to intestinal polyps, we don’t know whether he should be screened for this or we almost have to wait for signs until they do..its a constant dilemma.
He is happy and enjoys his life as long as it is kept into his routine. Communication is very limited and can be very frustrating for him, we cant pre empt too much as this throws him of course and stresses him too much. He is a little un cordinated and is quite tall, he needs assitance at all times out and about. He is quite strong and doesn’t realise his own strength but is not an agressive boy, he doesn’t have a bad bone in his body..god love him!! He accesses horse-riding for the disabled, rides very slowly and cautiously on his 3 wheeled bmx bike we bought him and he still baffles me how he can complete call of duty 1 2 and 3 on his ps2 but cannot hold a conversation or know what time of day it is let alone the day!!!
But its true in saying our boy has taught us many things and he is truly adored by everyone.
Thanks once again Lucy and I will get round to e-mailing Dr Eng and accesses the BRRS facebook page…will be in touch!!xx Frances.

Frances – October 21, 2010

Hi Trish!!
Should have put this on the last entry but read your reply after I posted the above!! Thank you so much for your kind words, we certainly are all in the same boat but what a comforting feeling..at last!! For years I have read articles on the internet, some with caution, but nothing with real people experiencing real situations until now. It was around 10/11 years ago I did manage to talk to 2/3 parents in the UK with children with the condition but sadly we lost touch, which was a shame. I think in the late 90′s people were still finding out about it and it was very much like Bannayan who? what? Mind you we still talk to medical professionals today and they still ask the same question!
I suppose with the wonders of the web we can keep each other informed and support one another accordingly…no matter the distance!! Well hope you all keep well…your babies are delightful by the way (seen the photos) and no doubt will keep very much in touch!! x Frances

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