Biotinidase Deficiency

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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

Saturday at the Torrance Farmers Market

There has been a lot of healthy activity in our household lately, and not just Tanya’s miraculous change in her well-being; we have also recently released a book of juicing recipes, “Faces of Juicing, Visual Juicing Recipes.” When the book was released Tanya suggested that she wanted to go on a juice fast; I just tried to change the subject when she brought it up. Since Tanya has recently learned that most of her health issues appeared to be the result of a profound Vitamin B7 deficiency, otherwise known as Biotinidase Deficiency, she started taking Biotin a week ago and is a new person today. This change has resulted in her appreciating juicing even more and has strengthened her resolve to increase her juicing at least for a couple of weeks. Since I know when I am beat, I decided to head over to the Torrance Farmers Market on Saturday morning and see what was available.

There is nothing like going to a farmers market to make one appreciate living in Southern California. So many vibrant colors and good smells; we have it all. The Torrance Farmers Market is held every Saturday at Wilson Park, located at 2200 Crenshaw Boulevard between Sepulveda Boulevard and Carson Street from 8:00 AM until 1:00 PM, on Tuesday and Saturday. I have not gone on a Tuesday yet, but Saturdays are definitely fun for the entire family as there is not only fresh produce available but there are over twenty vendors selling cooked foods as well. Take the entire family, enjoy some good food, live music and that great California sunshine. Continue reading

Adult Biotinidase Deficiency and you

Tanya jumping

Jumping for Joy

To say that this has been an amazing week would be an understatement; I would go so far as to suggest that it has been a miraculous week. I would like you to take a look at the photo of Tanya, to the left. I took that photo this afternoon (Saturday, July 27); there is no way Tanya would have even attempted jumping up like that a week ago. The fact of the matter is that in recent weeks, Tanya has been extremely clumsy; tripping over her own feet and walking into walls became pretty standard occurrences. She had numbness in all of her extremities, it was painful for her to smile and she could not follow a conversation to save her life. On the 19th, my birthday, she got a telephone call from her primary care physician’s office and they informed her that she had a low B7 reading and that the doctor would be calling her with a treatment plan. So, that was a week ago and her doctor had something to do and would look into it when she got back. Luckily, Tanya had figured out that waiting for this doctor could kill her, so she went and got loaded up on B7 the next day and has kept at it since.

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

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