Yes. I do.
Growing up in a family full of issues made me who I am today – a person who does want to know.
Because of this need to know, I’ll never be laid back. And I want to know only so I can live longer and healthier than my parents. Being around to kiss grandbabies and have the ability to be present in my daughters’ lives is priority. In this case, being a mom trumps love of husband. Since He has been in my life for most of my life, I have a serene sense that I have accomplished so much with him, yet what I’ve accomplished with my kids is still in the infancy stage.
A few months ago I agreed to the pharmacogenetic test my Endo suggested last year. What seemed indulgent then felt completely necessary this year, especially after having spent nearly $1,800 on big bad testing only to find out I had a beautiful brain, boring eyes, and poor hearing (but right on cue for a person of my age). All because of a drug response.
I think the insurance company paid about $2,600 of the bill, and I less than $300. It was through Genelex out of Seattle.
The findings? Gene mutation of the cytochrome CYP450. The CYP450 enzyme CYP3A4 is responsible for metabolizing half of the drugs on today’s market. I tested an intermediate metabolizer. Which is woo! Great because I can still take whatever substrate is listed, but Boo! Because every doctor and pharmacist has to make sure I’m taking the right dose for me, and we have to look at a list of inhibitors and inducers. Every. Single. Time. And will it really be the right dose? Are the findings that rigid or is it like in Diabetes – YDMV (your diabetes will vary)? Will I have to guinea pig drug doses for the rest of my life for each substrate a doctor wants to prescribe? And, by the by, I do try to limit those Rxs to a manageable one or two. I have to carry a card next to my insurance card and pull it out as proof to any one of the aforementioned professionals.
I’m elated to know costs associated with unnecessary tests, and an Rx that I eventually give up on, will lesson greatly. And I haven’t yet talked about less symptoms, which is Woo! This information makes me feel renewed as if I’ve just spent the day at the spa, knowledge being power and all. So, it’s not great. But now I know, and later it WILL. BE. GREAT.
And this! He took OFF a diagnosis from my chart. Elated! No more diagnosis of mild Congenital Adrenal Hyperplasia. This test reveals that I don’t even process my own steroids! So, Spironolactone, to prohibit the overproduction of steroids. Because Adrenal Fatigue. Well, that’s not great, but at least I know that my body is on the S–L–O–W setting for life. More knowledge. More power.
This brilliant doctor also tested me for MTHFR and I do have mutation. Goody. This only means the L-methylfolate I’ve been taking since February will be a necessity for an undetermined amount of time. And just goes to show I should be concerned for my vascular health – which was already hanging on my family tree, which I’ve been aware of because watching all your family members die from vascular illnesses kind of sticks with you (remember the vascular surgery on both legs in Sept 2013?). Minor detail in life. But there, and I’m ON IT.
For years, She has been complaining of all over body pain. From Cross Country in middle school to lying in bed, to all day long marching band rehearsals, to walking through the mall. Everything hurts, and her ongoing, albeit subtle, complaints seemed never-ending. “Mom doesn’t this ankle look a teensy swollen?” But. She’s a card carrying member of the Lazy Teen Club. What to believe? I find I have to believe her as I have lived a lifetime of what I call having weak rubber bands. I live with dumb stuff like pulling a shirt over my head can tweak a shoulder so bad I’m in pain for a week. And where yoga every day = chiropractor twice a week.
But She doesn’t have fatigue. Lazy? Yes. For so long I thought all that teenaged immobility was the root cause of the ache. And after finally digging my brain out of the take-care-of-the-T1D corner, I press the pediatrician to take notice.
We land in Rheumatology at Children’s, lucky enough to get the kindest, most endearing doc who in fact is the clinical director, and has two daughters he just saw through the dreaded (but incredibly fun!) teen years.
You have all of the classic symptoms of EDS, or Ehler’s Danlos Syndrome, Benign Hypermobility. (The kid can touch her thumb to her wrist – go ahead, try it.) AND, you have autonomic dysfunction in the form of Orthostatic Instability. He says POTS, but my endo says, why not just call it what it is and forget this syndrome stuff. What follows and still follows is RELIEF. And EXCITEMENT, because of knowing the potential weight of this news for all of us.
And THIS! It sparked a thought in a friend! Hmmm. What was that doctor’s name again? My kid has all those symptoms. Which makes sharing our results worth it. Right? Helping people is sort of my schtick.
I wonder what I might be missing from someone who keeps quiet about such things?
My brain goes right back to the take-care-of-the-T1D corner and things start to click. And click. And click. And I know I’ll be bringing her back for a 2nd rheumatology opinion with this awesome doctor. At that diagnostic visit, I did ask if EDS and autonomic issues could be the reason my T1D She has certain responses regarding diabetes and he said yes. And THEN, found out a T1D friend of both big She and little She has EDS and Autonomic issues. And then I think of Me and how much I have spent on expensive tests, therapists, braces, Icy Hot, and Ibuprofen and Meloxicam, and Methocarbamol. Holy Mother of God.
I do more research on dysautonomia and see Me, Me, Me, Me, Me, She, She, She, She…which also means Her (my deceased too early mother).
My brilliant Endo has referred me to a new neurologist who was a former med school classmate, and like him, thinks outside the box. This man specializes in dementia, brain injury and will no doubt dive into the dysautonomia issues. I’d love an explanation that opens up an answer for my T1D as to why she’s whomped with fatigue and sensitive to activity like no other, and doesn’t process foods well. More genetic testing to follow. Hopefully, more answers that keep me alive longer, and give my kids answers in their teen years vs. their MY AGE years.
Do other mother’s check out at the back of the pharmacy and go into the checkout line in the front of the store with items already bagged and paid for, then hand the keys to her teenager to drive her home? I did. Just last week. Let’s just say it was during a few “bad brain” days.
Do I want to know I might have early stages of early onset Alzheimer’s Disease?
No. But yes.