PTEN Gene Mutation, or The Diagnosis That Only Took 16 Years To Get

Miscellaneous and Personal Stuff I Must Share
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So, my youngest son, now 16. Was diagnosed in infancy with an Arnold-Chiari Malformation, which is where the end of the cerebellum extends down into the neck. He had two surgeries for it, and a lot of his extensive list of medical problems were attributed to this condition, including his enlarged head and low muscle tone. I now recall a couple of doctors very early on telling me that Arnold-Chiari doesn’t cause some of the things he had, but they weren’t giving me any alternative diagnoses or explanations, so I pretty much blew them off. We went with this diagnosis for years as a way of explaining and dealing.

Then a few months ago, he was diagnosed with autism. At first I was very surprised. He’s relatively high-functioning, and autism had never occurred to me, although once I started looking at the symptoms and some of his behaviors, it did make sense. The doctor who referred him for autism testing also referred him to a geneticist, and after months of waiting for that appointment, waiting for blood test results, and waiting for the followup, we now have a new diagnosis, and one that fits all of his symptoms. Although he does still have the Arnold-Chiari malformation, as well.

PTEN gene mutation. aka Bannayan-Riley-Ruvalcalba Syndrome. We both feel relief at having an explanation for a lot of things he experiences, but also fear of increased risk of tumors, both benign and malignant, and just fear of the unknown, as this is new for us. Also, I feel a sort of anger at the multitudes of doctors of varying specialties that have seen/followed him throughout the years that didn’t know about this thing. None of his current doctors even know of its existence and I’m having to teach them about it. I know that doctors can’t know everything, but I find this odd and frustrating.

I’d like to make it a project of mine to inform and educate people about this condition- after all, the two main symptoms of enlarged head plus autism seems like it would make it easy to identify for testing- but I wouldn’t know how to start. It would have been nice to know about this from the beginning. I don’t know if it would have changed anything, but it could have.

Anyway, thanks for reading this, and thanks if you’ve followed my/our story over the years, and I really needed to get this off my chest.

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I don’t have any knowledge about your son’s condition, but I am sorry for your struggle. And I really hope that having a more complete diagnosis will help him–and your family–have a better quality of life. I’ve been searching for a real diagnosis and treatment for myself in vain for years, so I have an idea of the kind of obstacles you all have faced, and the way it can be so damned draining.

If you feel like it, how did you finally get some more answers? Lucked into the right doctor, or…?

Good luck.

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The geneticist had an idea of what he was to look for from our first visit last fall and it took a blood test to confirm it. I just got tested for it and haven’t gotten the results, and they were going to contact his father to try to get him tested, as well. Thanks for your well wishes. I hope that you find your own answers soon.

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<dons geneticist’s* cap>

Unfortunately there are a multitude of little known genetic conditions that the average medical doctor or even specialist will never see. Even geneticists didn’t fully characterize this condition until the 1990’s.

And because this is not a well known condition, *you *will be the expert for the most part. You will know better than the doctors how this condition affects your son’s life. And you and your son will be the ones who have to explain this to each new doctor or specialist. Frustrating.

You probably already know, but it is inherited as an autosomal dominant trait which sometimes occurs as a spontaneous new mutation. This means only one parent normally has the gene variant, but it could just be a mutation that just happens and neither parent has the trait.

<takes off geneticist’s cap>
BRRS is just not well known. There seems to be a small online support community for BRRS and related disorders of the *PTEN *gene that allow families who are living with the condition to connect. You may have already found it, but I would encourage you to reach out. Hearing from others who have trod the path before you helps sometimes.

*Really just a BS in genetics, so I’m sort of a geneticist-lite.

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Oooh, a geneticist! Cool! I tried to ascertain the answer to one question from his doctor, but either he didn’t explain it well or I’m a dumbass, because I didn’t understand the answer… But, is it better or worse if it’s inherited vs not? I know he said one way it’s called innocent, which would seem to be better, no? Although, it probably is inherited, as his father’s daughter has a young son with many of the same symptoms. They have a very long wait to get in with a geneticist, though, as it appears that that specialty is very much in demand.

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I’ll second that you’re probably going to be the expert when talking to the doctors. If you can’t find anyone who has specialized knowledge, maybe you can find one who is interested in learning.

Raising awareness is a great idea. You could start with a blog based on your experiences and learning. Maybe talk to someone with some search engine optimization knowledge to help people find it. Search for message boards with related discussions. On a local level, you may be able to hold an event to get a little knowledge out - a 5k, or something like that.

I have a close friend who is a very good geneticist. If Iggy and the rest of the 'Dope can’t help you with anything, feel free to PM me and I can pass questions along privately.

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Thank you- I appreciate that. A blog might be a good idea, something to think about. It could be more common than they think, but if people don’t know about it, then they don’t know to look for it.

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When I see a patient check in to my ER with a rare genetic or medical condition I’ve never heard of or only barely remember from medical school more than a decade ago, I’ll often check Wikipedia for a brief summary article on the disorder before I go to see the patient. Makes me look smart and helps me ask the right questions. So long story short, make sure the wiki article on your son’s disease is up to date!

Diver, MD

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Doesn’t matter. The reason to test you and his father for it is that if one of you has the gen as well, other relatives on that side may want to get tested.