International Conference, Part 2

(I wrote this at the conference, old-school style with a pen and notebook.  Yes, I am that low-tech.  My cell phone barely texts) 

I have learned quite a lot about my own health as well.  Who knew carrying one little gene mutation could affect your health so profoundly?  I didn't.  I mean, I knew it could cause FXTAS and FXPOI, but those things haven't exactly struck me.  At this point, anyway.  And I am probably too old for FXPOI anyway.  If you have no idea what FXTAS and FXPOI are, you should.  Find more info here:  http://www.fragilex.org/fragile-x-associated-disorders

It seems researchers are learning more everyday about how premutation carriers are affected by their extra CGG repeats.  Dr. Hagerman said it will likely be called "Premutation Carrier Disorders" in the future.  What are the symptoms some carriers have?  Numbness, tingling in extremities, headaches, autoimmune disorders, loss of executive function, balance problems, dizzy episodes, and other things I've forgotten.  Oh yeah, memory loss is another one.  Ha!

It is not really funny, though.  Try living with two kids with Fragile X and feeling tired all the time.  Try remembering everything you need to get done and forgetting the most important thing.  Trying being patient when your head hurts every day.  Try explaining all these symptoms to a doubting doctor when researchers themselves don't have all the answers concerning these things.  I feel validated knowing others are dealing with these things, too, yet frustrated as well. 

*Disclaimer:  This is my understanding of what Dr. Hagerman said.  I am not a doctor, nor do I play one on my blog.

What does Dr. Hagerman recommend for those of us who are afflicted with these symptoms? 

Reduce Stress- Female carriers produce enhanced cortisol that is released with stress.  Cortisol is damaging to neurons, which can make symptoms worse.

Avoid general anesthesia- medicines used in surgery are toxic to neurons and exacerbate symptoms. 

Exercise-repairs brain and encourages neurogenesis, the generation of neurons. 

Take SSRIs (Selective serotonin re-uptake inhibitors )or SNRIs (Serotonin–norepinephrine reuptake inhibitor)-  also help aid neurogenesis or prevent the loss of exessive neurons)

Stop smoking- smoking kills neurons and makes you dumber.  lol.  Ok, so it actually kills neurons, which increases symptoms, one of which being executive function decline.  Which means smoking makes you dumber. 

Don't abuse alcohol-see above

Take Supplements- Vitamin C, Vitamin B, Folate  to help stay healthy.  Illness can cause symptoms to worsen. 

Speaking of illness--Remember when I had my gallbladder removed in December?  I had a bile duct leak and developed pancreatitis?  In that time, I had three times of general anesthesia.  I had the gallbladder removed, the bile duct and pancreas stents put in, and the removal of the stents.  There were also some twilight anesthesia procedures as well.  Dr. Hagerman made a statement that almost made me fall out of my seat.  I am sure I gasped.  She said, "Often the first symptoms carriers experience occur following a surgery or illness."  That is exactly what happened to me. 

I saw my family doctor about a month ago because I was starting to think I had lupus.  (I still think I might)  He made me feel like I was overreacting about my symptoms, but ran some bloodwork.  Not the actual test for lupus though, "because they get a lot of false negatives"  He said that if I have it, we'll eventually know it.  Hmm, well, anyway, all my bloodwork they did do came back okay.  I am glad about that, but that didn't explain why I was still having the symptoms.  I took the information I learned at the conference to my recheck appointment today. 

He said that neurogenesis is a theory, not fact.  And he has never in his 33 years of practice seen one patient who had these problems after anesthesia.  He "explained" that just because you are a carrier of Fragile X, doesn't mean you will have every one of the symptoms on the list.  I thought, "But it doesn't mean you won't, either."  He did agree that taking an SNRI could help with my joint pain and headaches, so he prescribed me a very low dose of it.  And wouldn't you know it, but my insurance doesn't cover it?  If I were to pay cash for it, it would cost over $200.00 per month.  The pharmacist said she is going to try to call my doctor to get preapproval for it.  We'll see if he goes to the trouble, or I get a call that it can't be preapproved. 

Why am I spilling my medical information all over the internet?  Because there might be another woman out there who is dealing with this.  Instead of feeling like she is going crazy or having some terrible unknown illness, she can know that someone else understands and is in the same boat.  It was comforting to me when a roomfull of women raised their hands to say they were experiencing at least some of these things.  Not that I am happy anyone else is having medical issues, mind you.  Just knowing that there is a commonality to it and there are things you can do to help it.

I would be freaking out if I didn't know Who is in control of things.  My life is in God's hands and I trust him completely.  I know things will work out according to His plan.