New here...another w/o diagnosis

sarahlea1717
0 Recommendations

Hi, I just wanted to post a little intro for myself.

My name is Sarah, I'm 25 yrs old, and I live in Wisconsin. I have an unknown neuromuscular condition. In the past I have beenj diagnosed with CIDP, SMA, CMT, and then back to CIDP before being told by Mayo Clinic that they have no clue what I have. I started having symptoms when I was around 8 or 9 years old and got the CIDP diagnosis when I was 13.

My peripheral nerves seem to be the most affected. My feet, legs, and hands are the most weak. I wear AFOs that correct my dropfoot to some degree, but I still have problems with tripping, can't go up stairs without a very sturdy railing (and only a few at a time) and my hands are now becoming "clawed."

Past tests have determined that the myelin sheath on my nerves is stripped away, but they have no idea why. A sweat test at Mayo showed that I do no sweat normally, only really sweating throught my trunk with the most being my back (I don't sweat through my feet and hands). 2 lumbar punctures have shown increased protein levels in my spinal fluid. I tried IVIG treatments twice - once when I was in middle school and the second time was in 2005. Both times showed no measureable improvement, but I could have sworn I felt better. I also tried prednisone, but it did absolutely nothing.

So I was told in 2005 that there's nothing the doctors can do for me at that time. They took a blood sample to keep on hand for genetic testing if anyone with my same symptoms comes forward. I still doubt the hereditary possibility though, since no one in my family has any problems. The only thing I have noticed is a few people on my dad's side have autoimmune conditions. I have heard the propensity to develop an autoimmune condition can be hereditary, so if that is the case maybe I do have CIDP or a similar disease.

Since being told I have a mystery disease, I have gone on to have 2 daughters with my husband. The oldest is 2 and youngest is 9 months. They show absolutely no signs of any problems as of yet.

I realize I probably won't be able to find anyone else with my disease since it's unknown, but I'm hoping to still find support with having a rare disease in general from this community.

4 replies

NORD-RN
  • By NORD-RN
  • Posted July 25, 2008 at 10:13 am

Dear Sarahlea:

I want to suggest that you contact the NIH (National Institutes for Health) in Bethesda, MD. They have just started a new program for patients who do not have a diagnosis. A team of physician/experts from 25 specialties will assemble once/month to review applications. They will chose two patients each month, who will be invited (all costs paid) to the clinical center for an intensive medical work-up.

We (NORD) participated in a teleconference regarding this program, and feel that it sounds very promising.

Here is the link to their website-- http://rarediseases.info.nih.gov/Resources.aspx?PageID=31
Here is a direct telephone number-- 1-866-444-8806. (You may need to leave a message in their voice mail system, but they will call you back. You will be speaking with a knowledgeable and well-trained nurse practitioner.)

We wish you the best of luck in trying to find a diagnosis.

Sincerely,

Stefanie Putkowski, RN

NORD

sarahlea1717

Thanks! I saw that on the NORD website and will call when I have some time to sit down and do it!

Jimswife
  • By Jimswife
  • Posted July 29, 2008 at 1:25 pm

Don't give up. We didn't get a diagnosis on my husband's autoimmune disorder for 18 months. He has Voltage Gated Potassium Channel antibody syndrome (his has attacked the central nervous system, but he has had myelin disintegration. This disorder is very rare, and is usually caused by some type of cancer. BUT since he has no cancer, they didn't catch it until Mayo did a second set of tests and found it.

He's been through IVIg, plasma phoresis, prednisone, etc. etc. etc. He won't ever get better, but the IVIg combined with Immunosuppressents and prednisone have gotten him to "stable" condition. We continually have to fight all the horrible prednisone side effects (severe edema, sleep disorder, skin sensitivity to injury, slow healing, etc. etc.). But hang in there, girl.

Just know that family is your most important support system, the more you educate yourself on each and every aspect of your condition will give you ammo to ask educated questions, insist on getting copies of test results, etc. so you can ponder over them on your own time to digest them, and if you don't like one doctor - ask to see another. Our biggest problem was our first doctor seeing abnormalities on the blood and spinal fluid and telling us "it's no big deal, don't worry about it". As it turned out, that "no big deal" ultimately disabled my husband and changed our once very active lives drastically. If he had considered it a big deal, my husband would not be disabled today - they could have done something.

Keep the faith, but remember it's okay to get frustrated.

sarahlea1717

Thanks for the support.

My family has been wonderful through this and I thank God that I have them. When I left Mayo the 2nd time, with my hopes crushed because I was back to being told they had no diagnosis, my mom cried with me.

I also have a very supportive husband. I pray that one day I can get closer to being healthy so I can take care of him for once.

I'm glad your husband finally got a diagnosis. I think that would help me a lot too. I'm already dealing with having something rare, so I'm fine with that. But with it being undiagnosed, it's harder to get things from insurance. Getting life insurance would have even been a nightmare if my mom hadn't been wise enough to buy guaranteed whole life for me as an infant.

It' so scary to not have any clue what the future holds. No diagnosis also means no prognosis, and definately no cure. I have no idea if this disease will progress more suddenly confining me to a wheelchair, or even killing me.

A silver lining for me is it has taught me to cherish the little things and to remember life is too short - one reason we decided to have kids now while we're young. Being a mother has really been the best thing in my life, and I'm glad I took that plunge despite the fear of not knowing what I have and whether or not it can be passed to them.

Thanks again. I hope someday I do find out what's going on with me. Until then I'll just be grateful I'm as well as I am now.

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