Profound Adult Biotinidase Deficiency

Profound Biotinidase Deficiency

Biotin Disease Test

Blood test shows profound Vitamin B-7 Deficiency

I just found out I have a profound vitamin B-7 deficiency on Friday, July 19th which was Lloyd’s 60th birthday and it has been an AMAZING week filled with so many changes! Changes even include me jumping and dancing around the house, luckily the dogs do not seem to mind. Vitamin B-7 is also known as Vitamin H1, Coenzyme R or Biotin and the deficiency is a disease called Biotinidase Deficiency. This is crazy, I feel amazing and I am still in shock. Oh my god, this is crazy. I love my great nephew; he is the best great nephew EVER! Thank you God, thank you Shellie, thank you Tasha, THANK YOU Landon! This is a rare disease with only 1 in 120 people who have the mutant gene and 1 in 60,000 overall have the deficiency; 1 in 130,000 for profound deficiency and 1 in 110,00 for partial deficiency2. I have not found stats for adults, but adults3 are currently only being found when newborns are found to have the gene.

 

Great Nephew

This is my Great Nephew who was tested for the mutant gene that causes Biotinidase Deficiency

Symptoms Improve After Biotin

Changes in how I felt started the first day after taking Biotin; like not needing sunglasses while outside. I did not even realize I did not have them on and only discovered it while reviewing the photos Lloyd took during a KickStarter event for Dry River Brewing. I was even able to join in and follow along with discussions during the event. Each day I felt less stiffness in my joints and muscles, I never even knew how much stiffness was across my forehead and the back of my head. Three days after starting Biotin I found I can bend over and lay my fingers and part of my palm on the floor, I now have so much less muscle stiffness it feels really unbelievable. Four days after being on Biotin I noticed I had moisture in my mouth; I have been using mints for years. Each day I have noticed improvements like warmth in shoulders, hands and feet, no pins and needles, no numbness, no balance issues, no more running into things, no pain in my shoulders, back or spine.  Currently very little pain or stiffness in joints, neck and back, when I start to feel it I take a Biotin and it goes away.

 

Biotinidase, Rheumatoid Arthritis or Both?

That is the question, right now I am unsure. On Saturday July 20th, I stopped Mobic and Arava. Today I am due for my next shot of Cimzia and will be skipping that as well. I am even off allergy pills I was taking to reduce red itchy patches! Last month I had to do my shot late because of slight chest congestion and during that time my shoulders and spine increased in stiffness and pain. I mentioned it to my new Rheumatologist during my visit with him and he told me Cimzia would not help my spine but it was and so was Mobic. I have ran into medical publications mentioning T Cells4  and TNF-alpha 5 but I do not know what either mean other then I have seen them mentioned in medical documents related to Rheumatoid Arthritis as well.

I have been on the phone often with my sisters and other family members this past week. While speaking with my sister Kim, she expressed how our symptoms have had some differences which we both have recognized. My sister Shellie and I have had similar symptoms but hers have been milder than mine. I know I have other family members that have had a Vitamin D deficiency and no other diseases. A cousin who was just diagnosed with Rheumatoid Arthritis and low vitamin D. Aunts, uncles and other relatives that have related diseases including Fibromyalgia, learning disabilities and spine issues on both sides of my family (McCammon’s and Sanders) . The Gene test that is needed is called BTD6. When I hear back from family members I will try to go into deeper details on what symptoms are common for those that have a deficiency, if any.

Common symptoms7 for newborn and children are Alopecia, weak muscle tone, skin rashes, fungal infections, balance and movement issues, breathing issues, hearing loss and loss of vision.  Symptoms that I have had are learning disability (difficulty with pronunciation), hearing issues, optical migraines, light sensitivity,  breathing issues, spine issues, popping joints, crackling in ribs, cold hands and feet, overheating and fevers, poor concentration, fatigue, dizziness or lightheaded, swallowing or choking issues, swollen lymph nodes, low vitamin D, smelling issues, thin nails, allergies, muscle stiffness and muscle weakness. With the muscle weakness and stiffness it always appears similar to Rheumatoid Arthritis by hitting joints on both sides of  my body like feet, knees, hips, shoulders, elbows and other joints. Even the joint stiffness is gone, it is crazy and I am still in shock.

Currently I am symptom free and waiting to hear back on a Vitamin and Mineral Test to see what other vitamins I am deficient in because you need Vitamin B-7 to be able to absorb other vitamins as well as some proteins, fats and carbohydrates.  By the way the Vitamin and Mineral panel that I had done only cost $170 and is billed to my health insurance, if you suspect you may have a deficiency causing you issues then I recommend you talk to your doctor about getting a test done for vitamin and mineral deficiencies. I am really amazed just how much stronger I have felt this week. I love my great nephew and I am warning him now, I will be the Great Aunt you will hide from because I will want to kiss and pinch those cute chubby cheeks. :)

 

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  1. Biotin Deficiency Therapies. Rare Diseases.
  2. Biotinidase Deficiency in newborns. Medical Home Portal.
  3. Technical standards and guidelines for the diagnosis of Biotinidase deficiency published in 2010.Nature.com
  4. Inherited Metabolic Diseases: A Clinical Approach. Google Books.
  5. Biotin influence on inflammatory diseases. PubMed
  6. BTD Gene. National Center for Biotechnology Information & U.S. National Library of Medicine.
  7. Symptoms found in newborns and children. Genetics Home Reference.

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Faces of Juicing Book
Biotinidase Deficiency Not RA
Diagnosed with Rheumatoid Arthritis in Dec 2003 because of joint pain and fatigue. Found out on July 19, 2013 that I really was profoundly low on Vitamin B7 because of a rare disease called Biotinidase Deficiency. When I found out I was very weak, hardly could get out of bed, could not turn my head without getting light headed, dragging my feet when I tried to walk, struggled to breath daily for years and was having many many other issues. From the first 24 hours of taking Biotin my symptoms started to disappear and my body started getting stronger again.
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