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.
Often misdiagnosed.
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.
Thank you for this wonderful post today. Awareness of rare illness/disorders is a must. There are many of us out there that suffer daily from something but our symptoms are not visible to others. The medical field needs to make doctors more aware of the many rare types of illness/disorders that are out there. Thanks again.
ReplyDeleteThanks for ghe information. I am really sorry you have to know so much about it. :-(
ReplyDeleteGood information. It's hard having to manage a condition instead of curing it.
ReplyDeleteMy SIL has a rare disorder that is somewhat like MD, but it has a name I can't remember in its entirety. Thank heaven they have diagnosed Far Guy for treatment. God bless.
ReplyDeleteThank you for this excellent information. Hugs and prayers for the both of you.
ReplyDeleteLinda
You have educated a bunch of us here, but I'm sad that you have so much personal knowledge of the two conditions. All the best to you both.
ReplyDeleteWhen there are less people who have a disease they don't put the time and money into studying it, either. Seems to be the same thing when it's something mostly women get. I am so glad FarGuy got diagnosed finally--both of them. hugs and prayers!
ReplyDeleteConnie, You have helped countless people by posting about the troubles Far Guy has endured. I do wish these diseases were discussed in a more public forum. Keep on keeping on and thank you for sharing your knowledge.
ReplyDeleteThanks for the info I believe that if more people are aware of these rare diseases the more we can understand and possible help those with them ! Not only is it hard , tiring and wearing for those with these diseases it is also the same for their loved ones . Yup all you can do is keep on keeping on and be blessed with and at the days that all is ok !
ReplyDeleteThanks for sharing this information here, I learned from this post. My best wishes to Far Guy as he keeps on keeping on.
ReplyDeleteYou have certainly done your share in helping people learn of these two rare diseases. I had never heard of either one. You have written some good helpful posts.
ReplyDeleteMy son suffers from Crohns and it took nearly four years before he was diagnosed. Thanks for the heads up about Far Guy's conditions.
ReplyDeleteThanks for the education. It is so true that we do not know what others are going through and that they don't have enough spoons most days and they may still look good. It's always important to understand we don't know what others are going through and not to judge as diseases not only affect the patient but also the caregiver/family. Thanks for sharing.
ReplyDeleteWhat an amazing post and I hope it is okay I'm going to share it on my FB today as well!
ReplyDeleteShare away! :)
DeleteYou are doing a great service by alerting all of us about these rare diseases and reminding us that often these dehabilitating rare diseases are not visible to the eye. I have two grandchildren with EDS which is another one of these rare diseases.
ReplyDeleteI agree that by sharing this info you are helping somebody, some where. I know you get tired of comments like "never heard of it" and "well, he looks healthy." People would tell my mom that she did not LOOK blind! ??? weird.
ReplyDeleteJohn has a combo of narcolepsy (falls asleep) with hypersomnolence (can't sleep) - people's reaction....oh, I would love to be able to fall asleep....driving, eating, on a ladder???? Watch what you ask for!!!
Remembering you and FG in our prayers.
Wow! Interesting post. I wasn't aware of the A1AD, probably because I haven't been faithfully reading blogs. How amazing medicine is becoming - even if at a frustrating pace to those impacted by it.
ReplyDeleteBecause of FarGuy's pain from the Trigeminal nerve, I knew what was going on when my dad had some strokes. The Doctors failed to believe he was stroking because strokes "don't cause pain". However, if bleeding and inflammation occur near the trigeminal nerve, as it did with Dad, there is terrible pain.
Good luck and improving health to FG!
Great post. When you put everything in one post it makes more sense. I hope that treatments keep Far Guy in good shape and that he has a good quality of life
ReplyDeleteYour post has been on my mind all day. "Not enough spoons" is going to be my new phrase, I think. It's a wonderful analogy!! I have two rare conditions, one involving my lungs. The lung condition could be hereditary, and I would kniw where it came from. I have a relative who also has a rare lung condition, though not the same one as mine. She has fewer spoons on any given than I do. Isn't it interesting that Rare Disease Day is on Leap Day? We had a beautiful sunny day here (and cold!)
ReplyDeleteI must admit I had heard of neither until Far Guy was diagnosed. I'm glad you had a good doctor.
ReplyDeleteSo do I say, "Happy Rare Disease Day?" Sick joke! Double sick pun. I am teasing.
Hang in there, y'all are two of my favorite people.
This is the first I've heard of Rare Disease Day.
ReplyDeleteI have been following your blog long enough to know about the A1AD but not the Neuralgia. You are a wonderful advocate for disseminating information and especially for your Guy.
My mother had TGN and luckily the Dr. ruled out the alpha1A on my husband. Poor Far Guy, I wish him well!
ReplyDeleteMine aren't rare but they are chronic and the problem is, as you said, "you don't look sick" and I don't but I can't keep up any more....not with housework, yard work etc. I try, actually harder than I should as I have a stubborn streak and don't like to admit I can't so something but I need to downsize and quickly. It is not fun to try and keep up with responsibilities that you never used to let slip. It's not easy growing older either and it is definitely not for "wimps"! LOL!
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