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Long time readers are familiar with the saga of my fiancee Tanya and her life being diagnosed with Rheumatoid Autoimmune Disease, aka Rheumatoid Arthritis (RA), which turned out to not be RA but rather a Biotinidase Deficiency. Since my server stats indicate that I have a lot of new readers I will summarize the ordeal for you.
In December of 2003 Tanya was diagnosed as having Rheumatoid Arthritis due to her joint pain and fatigue. As the years went by her symptoms got worse and she spent close to $500,000 in treatments that included low dose chemo. In 2013 one of her nieces had a baby. These days, thanks in part to the March of Dimes, gene testing is done on newborns to see if there are genetic defects that the new parents should be aware of. As it turned out, the baby was a carrier of the gene for Biotinidase Deficiency, but they did not know what side of the family the gene came from so Tanya had a vitamin and nutrition test done on herself. It took a couple tests and a couple months to get the results, but on July 19, 2013 she was informed that she was profoundly deficient in Vitamin B7. Her doctor did not know how to treat it and said they would get back to her with a treatment plan; as of July 25, 2014 they still have not called back.
Luckily, one of Tanya’s skills is research and she immediately sought out ways to get enough B7 in her system since the gene mutation prevented her body from separating B7 from the protein it is attached to in foods, so her body just passed it out. Long story short, she discovered Biotin and started experimenting with it since there is essentially no information available on how to treat Biotinidase Deficiency. The results were immediate; literally overnight she started noticing improvements in her health. She immediately discontinued the use of the various prescriptions she had been taking for years and has not taken any of them in the past year. 13 months ago we were wondering how much time she had left on earth; this past Saturday we celebrated the one year anniversary of her rebirth. Continue reading
Adult Biotinidase Deficiency and you
Jumping for Joy
Since the primary care physician was pretty useless Tanya hunted down a doctor that practices naturopathy; figuring he would be more capable with vitamin deficiencies. She then picked up a copy of the test results so she could bring them to the new guy and discovered her B7 level was .05! People with B7 levels between .30 and .10 need treatment; below that is a profound deficiency and must be treated with urgency. While Tanya waited for her appointment, she did more research and discovered that almost every issue she has had since birth can be related to this B7 deficiency. In the 9 years she had been treated for Rheumatoid Arthritis (RA), no one ever suggested doing a vitamin test even though all the tests they ran on her said she did not have RA. Doctors agreed, something else was going on, but no one ever thought to check vitamin or toxin levels.
Thursday we went to visit the naturopathic doctor; that was pretty eye-opening. The first thing we learned was that he had never dealt with anyone that had a B7 deficiency; he had just had someone with a B6 deficiency recently though. B7 deficiencies are not tracked much it seems; they do it on newborns, but stop after that. Not really sure why that it. He agreed to do a complete vitamin and mineral blood test, so we will see what happens from there. Continue reading
Practicing medicine
Tanya going for B7 shot
In a nutshell; my girlfriend Tanya was diagnosed with Rheumatoid Arthritis (RA) in 2004. In October of 2011 Tanya moved from Indiana to California and my life of living with RA began. One major change in my life was that I now had to start doing something I have most of my adult life avoiding; I started going on visits to various doctors. In case there is some confusion, I do not go to the doctor for myself. I tried it a few years ago but the experience was so frustrating that I said screw it. I admit, I was a little surprised when I first started going with Tanya on her visits to several doctors and specialists in Southern California. My initial impression with each doctor I was introduced to gave me the impression that each of these new doctors was a qualified, caring professional that was going to do their best to help Tanya. Unfortunately, as time went on, I came to the realization that there was one doctor that seemed to be basing his suggestions on kickbacks from a pharmaceutical company while the others seemed to be at a loss as to what Tanya’s problem is, because every “test” they ran seemed to come back normal; it was almost as if they were suggesting that she did not really have RA. Rheumatologists would send her to neurologists and thyroid doctors. Everyone that tested her said there was nothing wrong that they could see, and her complaints essentially were not typical RA symptoms. Various drug combinations were tried and only through Tanya’s insistence was a combination of drugs given to her that relieved her pain, quite significantly at that. The thing is, the new drug cocktail had side effects that required even more pills to be prescribed and some of the side effects got bad enough that she had to delay taking her primary pain relief cocktail. I started to notice Tanya experiencing the same frustrations that caused me to give up on doctors, but she does not have that luxury. Continue reading
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