The last day is February is Rare Disease Day every year.
Far Guy was diagnosed with Trigeminal Neuralgia or TN on December 25, 2007. Even I recall the date. He spent two weeks in extreme pain until the medication took effect. Trigeminal Neuralgia is often called the suicide disease as the pain is so intense and relentless.
The pain is like a cattle prod to the side of your head and then burning that is constant. There are many different medications and combinations of medication over the years he has tried them all. He has also had injections into the nerve and acupuncture.
Right now Far Guy is in remission and off all medications, he has a wonderful Neurologist who he sees several times a year. We are so very thankful for a good Doctor and for remission, we hope the remission lasts forever.
Far Guy was diagnosed with Alpha 1 Antitrypsin Deficiency on May 18. 2015.
Alpha 1 Antitrypsin Deficiency is an inherited/genetic disease. Alpha 1 is a protein made in the liver, when you get a lung infection the protein goes from the liver to the lungs to protect them. In people with the deficiency like Far Guy the proteins are in the liver but the wrong shape and they are stuck there so they cannot travel to the lungs to do their job.
Alpha 1 is rarely diagnosed although there is a confidential free blood test available at Alpha 1.org The blood test there is the ONLY reliable test available in the United States...sure you can go to your local clinic and have the test but don't count on the results being correct. Everyone who has any kind of breathing problems should be tested in my opinion. I was tested..and I am normal so our daughters got one bad gene from their Dad and one good gene from me. Only one of our grandchildren has a bad gene.
Far Guy receives weekly infusions of the protein to protect his lungs. Right now his lung function is about 20% He is presently on The Lung Transplant list at the University of Minnesota. Our bags are packed and we are ready to go when ever they call.
We are very careful...we don't go very many places in the winter time. Fragrances, smoke, cleaning solutions, fabric softner, hair spray, smelly shampoo, gasoline fumes, exhaust from vehicles all make difficult breathing more difficult. The candles being extinguished at church...many things that a normal person doesn't even think about cause breathing problems. A simple cold can end up with a stay in the hospital.
1 in 8,000 people get Trigeminal Neuralgia.
1 in 2,500 people get Alpha 1 Antitrypsin Deficiency.
I suspect that one person getting both rare diseases is very rare.
Far Side
25 comments:
I always thought that I was the lottery winner for rare diseases. I have been positively diagnosed with Andersen Tawil Syndrome, also known as Long QT Syndrome 7. Since the genetic test for it has been developed, the instance of it has grown a bit, but when I was diagnosed with it the literature said that there were less than 100 known cases of it world wide. pIt causes a really scary heart problem, some anomalies with my hands and feet and a thing called hypokalemic periodic paralysis. Sometimes my body has a hard time waking up when my brain does. I also have another rare disease called hyperaldosteronism. I have an enlargement of one of my adrenal glands that secretes too much of a hormone that causes hypokalemia (low potassium levels) My zebras don't play well with others. The heart condition caused by both conditions are exacerbated by chemotherapy drugs. I was treated for state 3 cancer. I'm sorry to hear that Far-Guy is having such a rough go of it. It can be frustrating.
Very interesting. I had no idea and the pain from TN sounds horrible and especially when they call it the suicide disease! Far Guy must be of very strong stock to have withstood it. So grateful he is in remission! He is a rare bird and now we know why! I continue to pray for you and your family.
Whoa.....I can't even imagine. One is too many to suffer from.
I am hopeful that it won't be too long before FG gets his new lungs. He certainly deserves a good long life after all he's been through.
Oh, my. My heart goes out to both of you.💖 A well written explanation.
Every day I hope some lungs become available for you.
So, confirmation that far guy is one in a million ! :)
You all seem to take all this in stride. Strong folks.
Goodness, he certainly won some sort of lottery but the prize wasn't good. I hope the call for the transplant comes very soon.
You have given me quite an education today and I thank you for it Connie. Just before I read your post I thad old Dennis that I woke up praying for you and Gene this morning. Seriously, I did. I didn't know anything really about either of these rare diseases and I'm glad to know more now. You both amaze me with your resilence and sense of humor through it all.
Blessings,
Betsy
Not enough research is done for rare diseases so it's fortunate when you find doctors who know what they are doing. I have a niece with a rare disease that has those lung proteins building up in the lungs. Every few years she goes to Mayo to have her lungs "washed out". She was there last week having the procedure done. It's very scary as she is literally drowning during the procedure, and requires an ICU stay each time.
There seems to be so many things that can go wrong with our bodies. I'm happy that Far Guy has such good medical care and hope his remission will be a long one.
You re both working very hard to Have some success with this nasty condition. I hope that a transplant will soon occur.
Thank you for explaining these diseases. It is indeed rare that one person would have both of these. You and Far Guy are doing an incredible job of handling all that has been given to you with these diseases. I feel in my heart that a transplant will come through soon. I keep you both in my prayers.
Praying that you hear news for his transplant soon!
FarGuy is a rare guy. :)
I pray the transplant comes in soon!
My thoughts are with you and Far Guy on this rare disease day. Turns out I am a rare disease warrier too. I have known about my my issues, but did not know it was that rare and haven't written about it on my blog. It is what's called an orphan disease. Orphan Diseases are not ecomonically viable to develop drugs for them. Translation... not worth the cost. Sending good wishes your way!
Time to Play the LOTTO! With all that bad luck, it is time for some good luck for a change....
I have been curious about his lung condition for a while. (I know he has issues, but did not know the disease type/Mode of Operation.) I guess I could have read all of your 3650 previous posts to see if you mentioned it before.... but I like staying current and in the moment. ( And that is a lot of readin'!) We wish you and far guy the best and hope to hear good news when it comes.
Rare diseases suck just saying.
I won the lotery when it comes to common untreatable conditions
Thanks for giving me a deeper understanding of these diseases. Far Guy has had a battle on his hands for a long time. Remission is good. Now we all hope for that transplant.
I didn't know that the last day in Feb. was rare disease day. So unfortunate that Far Guy has not one but TWO rare diseases. It's the kind of lottery no one wants to win. Hope that new lungs become available in the very near future.
Bless your hubby for having to live with these two diseases. And bless you for helping him to live with them. Praying that that call for the transplant will be coming soon.
I'm happy to hear that the TN is in remission right now, and hope it stays that way. Best wishes on the lung transplant.
I'm catching up. Wow. Indeed FG is one in a million.
Rich just had a lung function test.
I'm hoping a lung transplant happens and soon...
That is bad luck. Hope he gets some good luck soon, and gets the call about the lung transplant.
I'll think twice when I complain about my bad luck getting the family's diabetes. I know how frustrating having an uncontrollable diseases is. My best wishes for Far Guy's treatment.
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