Introducing myself

[Nonnie]

Hi everyone, I'm Alana and new here…here's my story…
I have kind of a long story, so bear with me…When I was 21 years old (I am now 32), I was diagnosed with a genetic disease called Gaucher's disease. I had been going to doctors for 4years for the following: hair loss, joint problems, fatigue…what finally lead to the diagnosis was constant joint issues in my feet. The pain would not let up and so finally a hematologist decided to do a bone marrow biopsy on me and found this. Before that, I had been convinced I had an autoimmune illness like Lupus. My dad was also diagnosed with a very mild case of Scleroderma (not systemic, limited to hand involvement) at the time…Gaucher's Type 1 is a metabolic disease–I am lacking a vital enzyme. I began enzyme replacement therapy every two weeks. I felt better right away, but it took about 1.5 years for the joint issues and hair loss to go completely away. In the early years on the enzyme I still experienced fatigue, muscle aches, and I had a very bad case of full body hives that only steroids took care of. After that, I felt great until last summer.

I had a baby in April of 2008. It was an uncomplicated pregnancy and everything returned to normal pretty quickly. When she was 4 months, we had to take her to daycare to return to work. It was then that I started to get sick every month with little bugs she came home with. I was sick constantly. Last June my hair started to fall out again, but I was not sure if this was post partum hair shed or something else. I began to have bladder issues and developed a huge tension knot in my neck that caused chest pain and rotating heat/tingling sensations. In August, I had to stop taking my infusions because of a drug shortage. I panicked right away, worried I would get sick often. Little did I know.
In August, I got the flu. I never felt like I fully recovered. I would slur words (pretty minimally, but still) or replace words with the wrong word, I had constant leg aches, parathesias, fatigue, carpal tunnel, tmj, headaches, it seemed like every week I had something new. I finally went to my GP, thinking I had MS or something. He did some bloodwork and it came back that I had the AntiCentromere B with slightly elevated ANA…finding out about possibly having SS was shocking, yet somehow I had always suspected I had an autoimmune illness. I saw a Doc at Mayo in December–he didn't seem overly concerned since I didn't have any skin involvement or reflux issues, but he wanted me to do some tests:heart, lung, and esophagus. At the end of January I developed bad esophageal spasms and now I have a tightening sensation across my face and some tight hard skin on my pinky toes. I am taking Prilosec, which helps, but caused bacterial overgrowth in my stomach.
I met with my doctor who treats my Gaucher's and a director at Yale who studies Gauchers in February and both thought that I have the predisposition to autoimmune disease, but didn't necessarily have Scleroderma, but that it was essential to be back on regular infusions, (which I am finally). Gaucher's has a strong tie to the immune system. They believe being off my medication allowed the autoimmune illness to manifest itself and that my immune system can still correct itself back on infusion therapy. This would be great, but I am showing more signs of Scleroderma, and I am not sure if I was starting to develop it before or after I stopped the infusions. I wonder if it was just the pregnancy that triggered it.

Anyway, that's it for now. I go back to Mayo on April 12, but I have also made  an appt with GP doc who practices AP protocol here in Arizona. I have not had a formal diagnosis yet, so I don't know if they will let me start it or not. Things are progressing quickly, so I want to be as proactive as I can.  I pray this treatment works for me..

[lynnie_sydney]

Welcome Alana, although so sorry you have had to seek us out. I am not familiar with Gauchers but have looked it up. Wow, what a journey you have had. There are many who post on this Forum who have various types of Scleroderma and I know they will contribute their experience and wisdom. You may just have to wait a little longer than usual for replies due to the Easter Long weekend probably making the Forum a little lacking in users, but they will come. I do know that with any signs of Scleroderma, the view generally here is that the sooner you get on to the antibiotics the better – diagnosis can often take a good while. The AP doc you mention having an appointment with will no doubt share his/her wisdom with you in this regard. Please stay around for both support and input, there are some fabulous folks here.

One other point to consider. A number of folk here with SD or symptoms of it have tested positive for Lyme Disease, known as today's 'great imitator' disease because it can manifest in so many different ways. It may be worth you also considering having a test for Lyme at some point through Igenex Labs. Lynnie

 

Be well! Lynnie

Palindromic RA 30 yrs (Chronic Lyme?)
Mino 2003-2008 100mg MWF - can no longer tolerate any tetracyclines
rotating abx protocol now. From Sep 2018 MWF - a.m. Augmentin Duo 440mg + 150mg Biaxsig (roxithromycin). p.m. Cefaclor (375mg) + Klacid 125mg + LDN 3mg + Annual Clindy IV's
Diet: no gluten, dairy, sulphites, low salicylates
Supps: 600mg N-AC BID, 1000mg Vit C, P5P 40mg, zinc picolinate 60mg, Lithium orotate 20mg, Magnesium Oil, Bio-identical hormones (DHEA + Prog + Estrog)

[Nonnie]

Thanks, Lynnie.  Yes, I noticed all the posts on  Lyme disease and I will look  into that as well.  I am just seeing a regular family doc, Dr. F in Scottsdale, AZ.  I got his name from someone at RBF along with a few other names.  Most of the others don't take  my insurance, so thought I'd start with him.  Has anyone heard of Dr. F?  I know he doesn't do IV therapy.  Is it good enough to start with pills.  I am hearing a lot about his Dr. S–is there more contact info available for him? Sorry for all the questions…

Edited to remove doctor's full name as per RBF policy. RBFV 

[lynnie_sydney]

I'm going to bump this thread back up the board now that more people are returning from the long weekend, hopefully for some additional responses. Lynnie 

Be well! Lynnie

Palindromic RA 30 yrs (Chronic Lyme?)
Mino 2003-2008 100mg MWF - can no longer tolerate any tetracyclines
rotating abx protocol now. From Sep 2018 MWF - a.m. Augmentin Duo 440mg + 150mg Biaxsig (roxithromycin). p.m. Cefaclor (375mg) + Klacid 125mg + LDN 3mg + Annual Clindy IV's
Diet: no gluten, dairy, sulphites, low salicylates
Supps: 600mg N-AC BID, 1000mg Vit C, P5P 40mg, zinc picolinate 60mg, Lithium orotate 20mg, Magnesium Oil, Bio-identical hormones (DHEA + Prog + Estrog)

[justsaynoemore]

Welcome aboard, sorry you had to find us, but you have found the best site for this subject on the net.

I am now 20 months into remission on AP.  I have mild RA, with newly discovered JRA, and my newest diagnosis of severe, childhood fibromyalgia to now.  I's been an incredible struggle to get the attention of caring doctors to diagnosis my six diseases and one condition (fibro), which took 10 years, 64 doctors, 5 hospitals, numerous hospitalizations and ER visits, and being told I was making it all up to cage for drugs as I honestly reveal I am a recovering alcoholic.  No wonder I drank 🙂 

Read the books, lurk, have fun with us, and acceptance is the key.

Take care and be well ~~ Cathy

[nspiker]

Hi Nonnie,

Welcome to RB!  You mentioned that you are seeing a Dr. F. in Scottsdale, AZ.  I think he is the same doctor that also has a lab and does lyme testing.  Have you been diagnosed with lyme?  I think he is the same doctor that discovered some new protozoa/bacteria, that is similar to toxoplasmosis.

Based on what I have heard about him, you are in good hands.  🙂

nancy

 

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