Probable MS or Hereditary Porohyria ??

[Karen__0__0]

  I am a 41 yearold female diagnosed with probable MS.I live in MT but have an appt. at the Mellrn Ctr. on Aug 10.For various reasons I have recently been very curious about the possibility that I could have an inherited Porphria disorder such as AIP.My symptoms include vision problems ( "optic nerve atrophy")that has puzzled Drs. since 1993,chronic back & knee/leg pain,with abdominal muscle pain,"ms like" symptoms-numbness in both feet,hands&knees,bladder urgency,and weakness.I have tried to explain to the many Drs.I have seen that my problems began after a D&C and during pregnancy that followed 2 mo. later.I also had tubal ligation shortly after delivery(1992 & 1993)The neuro. symptoms have appeared and progressivly worsened over last year,but vision,bladder & pain problems have been constant now for 5+years.My mother has had similar "MS like"symptoms and pains and was tested for MS in her late 50's.No diagnosis.She is a cancer suvivor(ovarian)Two of my 3 siblings have died of medical conditions at young ages(21&40)But the main similarity with AIP is the definite effect of my monyhly cycle.I have 2 good weeks then the symptoms are intensified.I do not mean just PMS I mean a very noticable difference in my physical abilities as well as my mental state of mind.I did not mention that my brain MRIs and spine MRI showed no lesions,however the spinal tap results were "supportive of MS"and the VEP was abnormal.I have told all of the Drs. of the consistent menstrual cycle effects but it does not interest the neurologists.I am however meeting with a neuro. this week to discuss this porphyria theory .But I have this appointment with Dr. Kinkel at the Mellen Ctr. Aug.10.Are there any Drs.at CCF who are experienced with AIP or hereditery metabolic disorders? Do you have any suggestions as to how I approach ruling out this possibility?Any input you can give me would be greatly appreciated.I realize this is a rare disorder and may be unlikely but the coincidences are too many to ignore.THANK-YOU for any advice you might give me!
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Dear Karen:
We do not have a porphyria "expert" at the Cleveland Clinic. All forms of porphyria, at least in the US, are very rare, and very few departments can boast of having specialists on porphyria on their faculty. All of us have seen our share of cases (I have seen 4 of AIP, for instance), and know very well when and how to look for it, and how to treat it.
Reading your symptoms, I think it is relatively unlikely that you have porphyria. I am sure Dr. Kinkel at the Mellen Center will be able to fully deal with that question when you see him in a few days.