I finally had my appointment with the geneticist. Their process is pretty simple. It consists of an initial interview with a genetic counselor but its really more of background gathering not "counseling" really, genetic or otherwise (just a personal irk). She asked questions regarding family history such as "do you know anyone else in your family that has the same problems you have?" I had NO IDEA if anyone else in my family had this type of problem or hypermobile abilities. I know my father and grandfather had long fingers and played the guitar well, so does my oldest son, did that count? Believe me, I keep tabs on my family history and I know who has diabetes and heart disease, who died from a stroke or old age, and of course, I know ALL of the mental health problems diagnosed or not! But this? Did they even have this back then??? This is what they called double "jointed-ness" accompanied by growing pains. I don't think either of those things were ever recognized before my generation. Now its was an ability that is put to use through gymnastics, swimming and its expected side-effects are arthritic like aches and pains and, at its worst, joint dislocations and surgeries. I will add that I did the gymnastic and swimming thing when I was a child and had "growing pains" all the time!
After gathering information, the genetic counselor then meets with the geneticist for a couple of minutes prior to the doctor meeting with me. She gave him the "case history" and put him "up to speed". I could hear them speaking outside my door but I couldn't really make out much of the conversation. I started getting extremely anxious and I felt my heart drop. I couldn't answer the questions about my family history so I couldn't possibly have this, could I??? I had failed the test! This would be another dead end and I would go home with no answers...again.
The doctor came in the room and immediately put me at ease with his awkward geekiness and his huge smile. He reviewed with me what the genetic counselor had just explained to him (impressively accurate for just a 2 minute conversation!). He asked me to stretch a few joints. Then he showed me how my body was stretchy-bendy compared to his. WOW! This was something that I could do easily without gaving it a second thought, my surprise was that others COULD NOT bend that way. And here I thought I was such a wuss, I'M ELASTIGIRL!!! (Ironically, Mark does remind me of Mr. Incredible :)
The doctor then explained that to be diagnosed with Hypermobility, I needed to meet 5 out of 9 hypermobile joints: I had 8 out of 9. I didn't make the 9th because I couldn't put the flat of my palm (my fingers were flat on the floor) to the floor while bending over keeping my knees straight by just about .25 mm...I mean really!? Then he checked for additional hypermobile joints that are not part of the official diagnosis but cause symptoms nonetheless: jaw, knees, and fingers are hypermobile too. He also suspects my inner ear joints which cause frequent ringing in the ear and instability, and he doesn't doubt my spine disks slip in and out which is the popping I keep hearing. He also believes I have cervical instability which exaplains MIGRAINES!!! He added a referral to a EDS/migraine specialist to work on that. I would also have to drink Gatorade everyday because of POTS.
He went on to explain that once Hypermobility is diagnosed Ehlers-Diagnosed is officially diagnosed if the hypermobility is causing significant problems. He said "obviously in your case it is." UNDERSTATEMENT OF THE YEAR!!! With so many hypermobile joints he was surprised I've never dislocated anything and said I would have to wear a medical alert bracelet so special care would be taken in an emergency situation, "they may not know what EDS is but it will cause them to look it up in the book." LOL
However, the single most important statement that doctor said to me was, "day after day we get people like you come into our clinic having heard it all: lupus, arthritis, having surgeries that didn't help, intense pain, migraines, easy bruising, intestinal problems and its good to tell them that there is something that explains all of their symptoms. I bet you've also been told that it's all in your head, that you're just making it up, that its not that bad. The diagnosis doesn't change anything but its very much real. You also have to understand that the changes you're going to have to make are life-long."
I didn't know what I was feeling. I didn't know if I should cry, hug him, laugh....my brain was in shock! I was stuck in a moment of appreciation. Appreciation for his words. Appreciation for an answer. Appreciation for getting positive feelings back, if only for a moment.
So after the appointment I did what any reasonable girl who had just received life-changing news would do...I got a makeover! It was just at the Dior beauty counter at Kenwood but it felt FANTASTIC and I deserved it!
The bad news: Ian will be evaluated by the geneticist next Friday. Our primary care doctor diagnosed him with hypermobility and he's experiencing joint pain, skin rashes after being in the sun and he's already had 3 migraines this month (with loss of vision). I gave the geneticist a heads up about it. He already let me know that Ian would need to start physical therapy now to help avoid problems later, he'd also get evaluated by orthopedics because he has flat feet which is affecting his lower-back, and spine stability and may be contributing to the migraines. I think I may have to apply for Ian's SSDI too.
So here's what I'm looking at: life-long physical therapy for both of us (Ian at Children's, mine at CAST), rheumatology for both of us (Ian at Children's, mine at Norwood) MH therapy for both of us (different offices) management of Ian's Asperger's and Bipolar, orthopedics (possibly same doctor), migraine management for both of us (possibly same doctor), asthma management (same doctor), medication regimens for both of us, school catch up for Ian due to his appointments. LOTS and LOTS of medical appointments...going back to work???
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