There are a bunch of reasons why I decided that getting genetics testing is something I should do. I am 25 years old and have always wondered if I have the same rare genetic disorder that my dad and brother have.
My brother was super young when he got diagnosed with a rare genetic disorder called Tuberous Sclerosis. Then my dad found out later on that he had it too. My dad had no physical signs of tuberous sclerosis, in fact, he probably wouldn’t know that he had it if it weren’t for my brother.
Tuberous sclerosis can affect people extremely severe or hardly at all. The symptoms of Tuberous Sclerosis can include:
- Tumors on the heart, brain, and/or kidneys
- White spots or rashes on the skin
- Developmental Delays
- Kidney Disease
I am sure there are many other things but these are the main things that have affected my brother and some have affected my dad. So you can see why it would be a good idea for me to know if I had it.
I started wondering if I have it more and more as I get older. Especially since the last few years I have had random kidney pain that would hurt so bad I could’t stand up. Turns out everything is fine and I do not have kindey disease. Thank goodness!
Also, you know when you start to fall asleep and all of a sudden it feels like you are falling for a quick second and you wake up again? Yeah, I thought I was having seizures… turns out that’s completely normal! No seizures for me!
I think everything has to do with Tuberous Sclerosis. It will be good for me to know either way! I am hopeful that I do not have it but you never know! The process is a lot more in depth than I thought.
My first step to figure out of I have tuberous sclerosis was to see a dermatologist. They looked for signs on my skin like white spots or angiofibromas which is basically tumors on the skin. I got the clear from the dermatologist that he does not think I have it!
The second step is that my primary doctor sent a referral to the UW Genetics Testing for me to see a specialist there. This is the most accurate test because it will also see if I carry the tuberous sclerosis gene.
They called me to set up my appointment and they spent about 20 minutes for a pre-screening call. They asked about my family history and a bunch of other questions to see if I am a candidate for genetics testing.
It turns out that they really need my dad or brother to get a genetics test before I do so that they can easily see the change in the gene. Luckily I have the best dad ever and he will do whatever is needed for me! My brother has WAY to hard of a time going anywhere in public. He has extreme anxiety.
So where I left off is waiting for them to schedule my dad first and they are booked out super far so we are on a wait list. I will keep you posted as I get further along in this journey! 🙂