Okay it's not actually a new toy. But...I'm going to spend a lot of time fascinated with it because that's the kind of nerd I am. ;)
Back in April I ordered a kit for whole genome sequencing. I sent it off the first week of May...and knew it would take a long time to get the results back. On June 21st, I got a notification that my kit was in the "raw data generated" phase and would be done within a few weeks. Then today before I woke up, I started getting emails that it was going through the rest of the steps...and tonight it was finally finishing up!
The Rare Disease Report was the first available...and I was really eager to look at that. The summary showed that I don't have any of the rare diseases, syndromes, or traits that were included in the screen. That's what I was expecting, though.
Last year, I realized that the explanation for ALL of my health issues since birth could be attributed to Ehlers-Danlos Syndrome. It is actually a rare disease, but the most common form is Hypermobile EDS...for which there is no current genetic marker identified. I talked to my primary care physician about EDS earlier this year...and he said it wouldn't surprise him based on the way that I sit. He asked about my elbows and I showed him...then was like, yep! Hypermobile. So my chart already says hypermobile.
There's a diagnostic criteria used for Hypermobile...and I overwhelmingly meet that. The first part is basically how bendy you are. For someone my age you have to have 5 out of 9...and I have 8 (used to be 9 but now my knees hurt when I put my palms flat on the floor while standing) plus 3 out of the 5 extra ones that you can add if you fall one point below the requirement. The second part is about related health issues that one with hEDS is likely to have. There's an A, B, and C part...and you have to meet two of the three. For A...you have to have 5 and I have 8. B is a positive family history...but we never really heard about it until me so none of the rest of my family have been diagnosed (although my sister, nieces, daughters, and more seem to also be hypermobile). Then C you have to have at least one and I have all three. Then there's a third section and all three prerequisites must be met...which is basically ruling out other things including other types of EDS. With my Rare Disease Screen from the genome sequencing...I don't show the genes for any of the other types of EDS (which was a big reason why I did the genome sequencing in the first place).
I was 99% certain that I had hEDS...but I was curious about the periodontal variant of Ehlers-Danlos as well given the extent of the dental issues that I've had on top of the overcrowding that's normal with hEDS...but it looks like it's just hEDS.
So the next time I see my doctor for my medication refills...I'm going to take my genetic testing results and see if he's able to diagnose me since it's so obvious (and he's been my physician through all of the health issues that are on the list) or if he has to send me to a rheumatologist or something.
And now...I'm going to go through my 545 page Wellness and Longevity Report to see what other interesting stuff my genes say about me. ;)