Discussions By Condition: I cannot get a diagnosis.

Almost 6 years and still no diagnosis for children

Posted In: I cannot get a diagnosis. 4 Replies
  • Posted By: Lurker
  • June 17, 2009
  • 01:15 AM

I have 4 children and the two middle ones, ages 7 and 4, suffer from chronic limb pain. We have been to many doctors in our area and a few out of state and still nothing. With each of them it started as leg pain right after their first birthday. They insisted that they were fine it was just growing pains but I knew it wasn't. I have read hundreds of pages on growing pains and it was not characteristic to what we were experiencing. There pain does not only occur at night they sometimes wake up at 7:00am hurting. They are under the care of the second rheumy and he has confirmed that there is something there, he just can't figure out what. My youngest is 2 and he is just starting to present with some of the same signs. :( They have done every test that any of the doctors can think to do and everything comes back normal. Both of them have been on Nsaids daily since it started and now my 7 year old is having kidney and stomache problems due to that. I don't know what else to do because her kidney doc says to take her off of the medicine completely but her rheumy says she has to have it to function. At this point I would have to agree with the rheumy but I don't want her to end up with major problems down the road. My husband and I have similar problems with limb pain and notice when we haven't taken ibuprofen for any reason for awhile. It almost seems t be something circulatory and that is about the only kind of doc we haven't seen. They are doing u/s of my femoral artery next week but we have no appt. currently for the kids to see anyone. Since they can't figure it out they just want to wait until something changes but I don't know how long that might take. Any opinions or advice would be appreciated.

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4 Replies:

  • Is the pain more in the muscle or the bone? I wonder if its a type of deficiency where their bodies don't produce enough of a certain chemical. Have they had their B12 levels checked? These are only suggestions, but look into enolase deficiency type 3. Here's a link:http://www.wrongdiagnosis.com/e/enolase_deficiency_type_3/intro.htm or perhaps peripheral vascular disease. Here's a link:http://wrongdiagnosis.com/p/peripheral_vascular_disease/intro.htm
    gr8tful 175 Replies Flag this Response
  • They have had their B12 levels checked and they are normal. I am going to read some more about enolase deficiency type 3 because that is something I haven't heard of or researched. As for peripheral vascular disease I have read into that. They have not been seen by a vascular doc but with that disease the pain is usually helped by rest and that is not the case with them. Sometimes they will wake from a deep sleep in terrible pain.
    Lurker 2 Replies Flag this Response
  • I am sorry but I don't think that Electro Hypersensitivity and Lyme Disease is the answer to everyones problems. If everyone had it they would no longer be considered rare conditions and they would be diagnosed much more quickly.
    Lurker 2 Replies Flag this Response
  • The symptoms being described here would suggest Familial Limb Pain and is associated with, believe it or not, migraine variation. Vascular pain onset with this disorder occurs most predominantly in the lower limbs and oftentimes the limbs are colder at the onset of the pain, growing warm during the attacks. My suggestion is to have both you and your husband, together with the children, tested for levels of Plasma Substance P and calcitonin gene-related peptide during a period when the pain occurs. Naturally, you would need to refrain from anti-inflammatory therapy in order to prevent masking of the incidents. This is an autosomal dominant inheritence and if your children are suffering particularly dramatic symptoms, then it's possible that it's the result of a genetic expression known as anticipation which basically represents an earlier onset for those inheriting the mutated gene. It may be that if the plasma levels indicated are present, then possibly an off-label use of drugs like Depakote or Topamax, antiepileptics being used with great success in preventing migraine, might prove beneficial in preventing the discomfort associated with Familial Limb Pain. This would very naturally need to be discussed with your doctors to determine any contraindications and whether FLP is a potential cause for the characteristic symptoms being demonstrated in your family. Best regards, J Cottle, MD
    JCottleMD 580 Replies Flag this Response
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