Diagnosis: Joubert

I just realised that I've written several posts now about Joubert syndrome and myself, but I still haven't written about getting diagnosed.

It all started with a fairly routine doctor's appointment in February of 2011. We had moved from the country to the city only a few months prior, and my new family doctor had received some of my pediatric medical records. She wanted to go over them with me, and ask me a few questions. It was going routinely; disability, medications, surgeries, etc. Then, she asked me if I had ever heard of something called Joubert syndrome. I said no, I hadn't, and asked her why. My doctor told me that it was noted on an MRI I had had years ago, but there was no other mention of it in my files. I was given a very brief description, and my doctor suggested that genetic testing might be a good idea due any potential complications in the future, should I have the syndrome.

Afterwards, my parents and I discussed the appointment and I decided to go ahead with the genetic testing.

A few months later, I met with a geneticist. After getting a pretty thorough examination and talking to my parents, she told us that I did have Joubert syndrome (JS for short). She explained what it was, went over the genetic factors (which sort of went over my head), and ran down a list of the syndrome's common traits, and almost everything fit. The diagnosis didn't really change much for me. The only differences are that I now see an ophthalmologist and need to go for regular ultrasounds (eyes and kidneys are two areas commonly affected by Joubert.)  After getting six vials of blood taken (!), we went home and did some research.

We looked up some more stuff on the genetics, then looked for photos of other people with the syndrome, and connected with Karen Tompkins, who was president of the Joubert Syndrome & Related Disorders Foundation (JSRDF) at the time. She sent us some information and wanted to meet us later in the summer. So, we met Karen and her daughter Sara for dinner several weeks later, and got a lot more info about Joubert. They were both interested to learn about me.

When I mentioned speaking about my disability in the past, Karen asked me if I would be interested in speaking at a conference in Minneapolis in 2013, to which I said yes. 

More on the conference in my next post.