It's Rare Disease Day 2011

[minkydog]

The family doc mentioned last year he wanted to check dh for sarcoidosis but wanted to see if adjusting some of his meds would help first. My dh doesn't look sick either to people. And in the warmer weather, he golfs nine holes on the little course around the corner just about every day. People think he must be in good shape because he golfs so much but they don't know that he pushes himself to do it and then sleeps when he gets home. People only see him at his best and think he isn't really disabled.

I know just what you mean. We battled this for years, trying to get DH certified disabled. Of course, at this point it's pretty clear to all his docs that he is indeed quite disabled. But it took a heck of a lot of work to get him there.

 

[luvmarypoppins]

Well I just checked the NORD list and we have a winner - I am rare!!!

I have thyroid cancer, but a really rare and agressive variant that is usually found in men. Even the onc. cant seem to give me any statistics and the nurse practicioner said I am the statistic. (around here any way) It took them a while to figure it out and they were asking other pathologists too. Everyone wanted to look at my biopsy slides!! But Praise God I am doing well so far.

My sister had Marfans Syndrome. Her dr. never even saw a patient with it before. Its genetic but in her case it was not, just bad genes at conception. I hope they have a cure for it some day. Sadly she pased away from it.

 

[HonnyDipp]

I have Polymyositis. Basically my immune system suddenly turned on my my muscles and forced them to rapidly break down. I was diagnosed in July 2006. I started showing symptoms in Jan. 2006. Doctor's couldn't explain it. By the time I was diagnosed, I was using a cane to walk. By 2007, I was completely bed ridden. You name it, I did it in bed. I had to learn everything over again. Now. I'm in remission thanks to a perfect cocktail of drugs. My CPK numbers are what tells the doctors if my body is fighting this right. 200 range is considered normal. During 2006, those numbers were 36,000! I had a check up with my rheumatologist yesterday. I got my test results this morning. My CPK number was 233!!! I'm getting stronger everyday. I'm walking again, and retired my wheelchair 6 months ago. I'm so proud of myself!

 

[nmmom95]

I have Wegener's granulamatosis. I was diagnosed in 2008 after my kidneys failed. Wegener's can affect you kidneys, lungs and sinuses. At the moment, I only have kidney involvement and I hope it stays that way.

 

[KPeveler]

Well I just checked the NORD list and we have a winner - I am rare!!!

I have thyroid cancer, but a really rare and agressive variant that is usually found in men. Even the onc. cant seem to give me any statistics and the nurse practicioner said I am the statistic. (around here any way) It took them a while to figure it out and they were asking other pathologists too. Everyone wanted to look at my biopsy slides!! But Praise God I am doing well so far.

My sister had Marfans Syndrome. Her dr. never even saw a patient with it before. Its genetic but in her case it was not, just bad genes at conception. I hope they have a cure for it some day. Sadly she pased away from it.

What I have is related to Marfan's Syndrome. I am very lucky that I do not have any vascular manifestations. We think my wife may have Marfan's (my geneticist who specializes in EDS, Marfans, LDS, etc looked at her and demanded she make an appt!), but she has no real problems from it, and as yet is undiagnosed.

 

[pwdebbie]

I have Polymyositis. Basically my immune system suddenly turned on my my muscles and forced them to rapidly break down. I was diagnosed in July 2006. I started showing symptoms in Jan. 2006. Doctor's couldn't explain it. By the time I was diagnosed, I was using a cane to walk. By 2007, I was completely bed ridden. You name it, I did it in bed. I had to learn everything over again. Now. I'm in remission thanks to a perfect cocktail of drugs. My CPK numbers are what tells the doctors if my body is fighting this right. 200 range is considered normal. During 2006, those numbers were 36,000! I had a check up with my rheumatologist yesterday. I got my test results this morning. My CPK number was 233!!! I'm getting stronger everyday. I'm walking again, and retired my wheelchair 6 months ago. I'm so proud of myself!

Hooray for you!

 

[The Orchid]

I was surprised to find that three of my illnesses are on the list as well; Lupus, Sjogren's Syndrome and Interstitial Cystitis. RA didn't make the list. They are all autoimmune diseases. Fibromyalgia is also on the list, but I don't think it is very rare at all. I think a lot of people have it and go undiagnosed.

 

[luvmarypoppins]

I was surprised to find that three of my illnesses are on the list as well; Lupus, Sjogren's Syndrome and Interstitial Cystitis. RA didn't make the list. They are all autoimmune diseases. Fibromyalgia is also on the list, but I don't think it is very rare at all. I think a lot of people have it and go undiagnosed.

OT: Just wondering how are you doing post op hernia surgery? I have had more problems. I actually asked the surgeon to take the mesh out. He said,no, it would be a "bear" for him to take out. I had to do 3 weeks of cipro as he thought the internal stitches were infected and it was draining too. Well thank God that worked because he said if it didnt I would need more surgery. He was going to try to debride it again if the antiobiotic did not work. I even went bowling last week and everything stayed together. I think I was a little crazy to do that one.

Hope you are doing well.

 

[The Orchid]

OT: Just wondering how are you doing post op hernia surgery? I have had more problems. I actually asked the surgeon to take the mesh out. He said,no, it would be a "bear" for him to take out. I had to do 3 weeks of cipro as he thought the internal stitches were infected and it was draining too. Well thank God that worked because he said if it didnt I would need more surgery. He was going to try to debride it again if the antiobiotic did not work. I even went bowling last week and everything stayed together. I think I was a little crazy to do that one.

Hope you are doing well.

I'm doing pretty well, thank you for asking. I had a couple CT scans that showed that everything was intact. I went through a period where I was sure I did some damage to the whole thing, but it turned out to be slow digestion causing that feeling of fullness that goes with hernias. My doctors think that is more a result of some of my medications than the surgery, so that is good.

I'm so sorry you've had some problems. I do think your surgeon is right and that it would be harsh to remove the mesh. Oh my gosh, I can't even imagine going through all that again...just the thought makes me feel sick. It's good that the cipro worked, but very scary to think that you had an infection. My understanding is that if those infections are not caught early, they can be really nasty....so thank God you got that caught quickly and are feeling better now! As for bowling, you have more nerve than I do! I won't lift anything heavier than a bag of groceries anymore. I'm so scared of having to do that surgery again that I'd rather be safe than sorry! These surgeries are so hard and when they are very extensive, it can be hard to find people that understand what it is like. It's very scary! I hope you continue to do well....and perhaps you could take up Wii Sports instead of bowling? J/K! But please be careful that you don't tear your repair!