Far Guy is a bit of an expert on Rare Diseases as he has two of them. Seems he won the Rare Disease Lottery.
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