Bannayan-Riley-Ruvalcaba Syndrome

[Andrea7inArkansas]

Ezra is so gorgeous. I believe I've seen you guys online before seeing this and may have even spoken to you on a forum. I have Cowden's as do my children who are almost 8 and 6. It's incredible how many similarities---my son had a 15 3/4ths" head at birth and daughter 14 3/4ths". Ezra's head growth chart looks just like my kids'. My 6 year old has autism as well. I'm grateful to see this on youtube because there's not a lot of awareness of PTEN mutations. Thank you for this.

[Koyko200]

They said my dad had it. My sister and brother has it too. They say I may have. My mom said it would explain everything since birth if I have it.

[wiscsuzski]

@Koyko200 That's how I feel about finding this diagnosis for my son - it explains everything since birth.

[Koyko200]

@wiscsuzski

I'm hoping it will for me. I have learning disabilities and it is making it extremely hard to learn in college. We are trying to find answers.

[Denisha1980]

i have a 9 year that is diagnosed with the same thing

[wiscsuzski]

@Denisha1980 Hi there. If you are on facebook, and want to connect with more people about this and other PTEN syndromes, try PTEN World or syndrome de bannayan riley ruvalcaba

[trishmatsonbuus]

Wow. So many similarities to my son!

Nathaniel is 4.5yrs old now. Born 8lbs, 4.5oz. 15.5 in head circum. Head CT at 6 months & MRI of the head at 18 months were both fine. Speech delay and other fairly minor delays---Birth to Three program worked with him from 14 months to 3 years with Speech Therapy & OT, both twice a week. When he turned 3, he was found to be eligibility for services through the school district, although he also attends a 'regular' preschool, too. (continued)

[trishmatsonbuus]

Wow. So many similarities to my son!

Nathaniel is 4.5yrs old now. Born 8lbs, 4.5oz. 15.5 in head circum. Head CT at 6 months & MRI of the head at 18 months were both fine. Speech delay and other fairly minor delays---Birth to Three program worked with him from 14 months to 3 years with Speech Therapy & OT, both twice a week. When he turned 3, he was found to be eligibility for services through the school district, although he also attends a 'regular' preschool, too. (continued)

[Haparanda9]

Thank you for telling about this. My daughter might have BRRS, and we have so very little information about it. The doctors where we live also have very limited knowledge about the syndrome. What they know is that she has many of the symptoms(birth weight 4,6, 58 cm long, gigantic head, hypontonic etc), and they've found that a part of her PTEN gene is missing, but apperantly not a importaint part of the gene. They say its not mutated the same place as Banyan Riley syndrome ususually is.

[wiscsuzski]

@Haparanda9 Hi! I wonder how many ways a PTEN gene mutation can be called BRRS. The syndrome sure can have many different forms! There are several groups on the internet that talk about PTEN problems. I will message you some links.

[kathleendugger]

Hi my daughter is 2 years old and has been diagnosised with PTEN. Your video sounded so much like what Briana(My daughter) has been through with the testing. She had a CT scan at 2 mos an MRI scan at 4 mos and just recently. My daughter has visual problems associated with the syndrome. She has almost the same markings on her skin. We are still seeing genetic doctors. were you tested?

[wiscsuzski]

My husband and I have not been tested. Ezra was tested (+).

Are you on facebook? It sounds like there should be a good sized group there.

[kathleendugger]

I am on facebook how would i find a group there? Thank you so much for posting your video.

[obryant10boston]

Remember that it's all probability...be optimistic for your child's future health and success.

[wiscsuzski]

Thank you. I admit, your Lhermitte-duclus had me scared.

[obryant10boston]

I have Brr Syndrome. I was so inclined to comment because your boy reminds of me...I am now 17. I wish I can tell you how things can work out...but life for me has been a giant obstacle.

[wiscsuzski]

I am very excited to meet you. Thanks for commenting. I would like to hear more about you. In what ways does my Ezra remind you of you?

Hope to hear from you again! ~Suzanne

[obryant10boston]

can't fit to 500 words so here is a list of problems I have/had: Polyps in my colon (all people with this syndrome have), Thyroid Cancer (had iodine radiation-now taking daily pills for the rest of my life), learning problems (delayed speech/walking). have eye problems people with cowdens are at risk with a condition that fall under the same tree: Lhermitte-duclus disease (it's a tumor behind the brain stem). In hs i've taken honors/ap classes stuggled sat: 1260 and going to Community College.

[wiscsuzski]

So it sounds like you have more physical problems than mental. You mention delayed speech, so you do talk now? Do you have any sort of autism spectrum disorder?

Thank you for taking the time to answer .

[obryant10boston]

Well I do talk now. I no longer needed speech therapy until the 8th grade, however, I was taken out of SpeEd in 3rd grade. I was diagnosed with autism but they took back there diagnosis because I had a spike of growth, I was placed in adv classes, and teachers wrote that I was very social and bright. Now I am struggling with the ability to sleep, concentrate, sensitive left eye, hearing loss, and Neurological disorders (a tick where my head moves involuntary).

[skineke]

Hi, and thanks for sharing about your son. Is he a twin? I have twin boys born in 1997 who got the positive BRRS genetic test in 2008. They had already been diagnosed with autism by age 3 (they were born very premature and it took a while to see the autism b/c of the prematurity delay). I couldn't get the end of your video so not sure what you said, but I'd be interested in sharing info with you if you are interested. Thanks again! Sheila Kineke

[wiscsuzski]

Hi! Nice to meet you. No, he is not a twin. I am curious about how BRRS has affected your boys. Thanks!

[skineke]

Hi. BRRS has affected my boys quite a lot, esp. in terms of autistic characteristics. Both have a very low language level (they request things they want, food etc. but never comment on past or future things, and don't answer questions and so are largely non-verbal).  In terms of tumors, both have had lipomas and one has a VERY POLYPPY colon (100s of growths) but benign. 1 has MR diag; other borderline (based on low language and v. low social motivation/skills). Nice to meet another parent!

[mbrighter2]

he's still a cutey...i hope the new diagnosis helps somehow

[wiscsuzski]

Thanks - you know i agree that he's super-cute. This new dx has me confused. I mean, now "vaccine-injury" believers can say "He's not autistic". I think he IS. but i guess it doesn't matter how i feel about what makes one "autistic". ack. Hope you and yours are well. :o)

[wiscsuzski]

I need to check the stats on  BRRS and developmental delay. I was just reading the story of Bryce Chichocki, who has had much physical trouble from BRRS, but apparently not at all autistic

[wiscsuzski]

sad to report, young Bryce Chichocki passed away in 2005.

[wiscsuzski]

Cichocki . beg pardon

[christschool]

I need to read up on this because I'm not familiar with it. My son too had an enormous head as a toddler too and still is large. I think the PTEN would be considered an axis 1 diagnosis, meaning its more important than the autism for explaining development. Did you know they removed Kim Peeks autism diagnosis too when it was discovered he had a brain deformity, yet he's about as autistic as they come and shares a lot of the same traits with my son, though you wouldn't see this on the vids.

[wiscsuzski]

Barbara L. Trommer, MD, says here /watch?v=pmD0sw9ljIc "Kids with large head circumferences should be screened, even in the absence of tumors".

[Loreleila]

This is very informative, and he's a beautiful boy. I hear the emotion in your voice. You are a strong and loving woman. I hope you don't mind me saying that.

[wiscsuzski]

Thank you, Loreleila. You are very kind. My voice bothers me. When i start talking about the medical stuff, I hear my voice go up because i'm unsure of pronunciation etc.