Today is a day set aside to acknowledge rare diseases.
A Rare or Orphan Disease is :
A disease or disorder that affects 200,000 or less people in the United States.
Usually has no cure.
If you tell someone what you have more often than not they say “never heard of it.” OR “what the heck is that?”
It becomes even more scary when Health Care Professionals/ Doctors have never heard of it. How can they help you with something they are unfamiliar with?
Far Guy has two rare disorders/diseases.
Trigeminal Neuralgia diagnosed in December of 2007. Luckily he had a smart Doctor in the ER where he was diagnosed immediately. In retrospect the ear pain that he used to have with no ear infection was a sign, so were the toothaches with no abscess. Trigeminal Neuralgia can be a hereditary disease…so far we know that two relatives suffered with it. There is no magic cure, pain is “managed.” Some people are helped with brain surgery, others not so much.
Alpha 1 Antitrypsin Deficiency was diagnosed by a blood test in April of 2015. We noticed a pamphlet in the Pulmonary Doctor’s office. When the Doctors used to tell him that he had bronchitis and would just have to get over it they were in effect damaging his lungs. A1AD is a genetic disorder, you can have a combination of bad genes….or you can have a combination of good and bad. There has been some recent discoveries on the diseases beginnings. The Vikings had a problem with all the raw meat and fish in their diet…and they got worms. If their genes mutated they were not bothered with worms… but they had lung and liver problems instead. There is no cure, but treatments given weekly by IV replace the missing protein, so you can help fight off life threatening infections. Testing is free.
Spoons…and how many do you have? Unlimited? People with a rare disease have only a few spoons available to them in any given day. ( Every activity takes a spoon) Everyday is different…how you manage your spoons becomes a challenge. Some days there are only enough spoons to manage day to day activities and nothing extra…
Both of Far Guy’s Rare Diseases are not readily visible. He looks normal and reasonably healthy …well except for the oxygen that he wears some of the time. He often gets the “Well you don’t look sick” comment.
Lack of knowledge is something that we the voice of the rare disease have to fight continually.