One year ago on my fiancé’s birthday I received a call from the doctor’s office letting me know that I was profoundly low on vitamin B7. I had decided to ask to have a vitamin B7 test done after my great nephew was born. He had gene testing done which came back positive for him as a carrier for Biotinidase Deficiency. He does not have the vitamin B7 deficiency but is only a carrier. I unfortunately lived 43 years with a disease that could have been easily treated; if nutritional deficiency testing was done before I was treated for Rheumatoid Arthritis. Thanks to the March of Dimes for pushing for gene testing on newborns to identify babies with Biotinidase Deficiency. I really have to wonder why this great healthcare system missed such an easy fix. The current healthcare system had MANY chances in 43 years to figure it out since I was always sick.
I cannot believe how much has changed in the last year. I am pain free and I have an amazing amount of energy. My spine and shoulders are stronger and in the last few months I had no hearing or breathing issues until I recently gave a few tubes of blood for testing. That night I felt my upper back weaken and my breathing and hearing issues started up again. I have been improving in the last few weeks since I gave several tubes of blood. I won’t be doing any blood tests for awhile; I enjoy being able to hear and breath. I will have the test results back in a few days; the tests were to recheck my nutritional levels.
Last year when I found out about the vitamin B7 deficiency I decided to start taking a multivitamin and then had my nutritional levels checked. I was found to be low on several nutrients like oleic acid (omega 9), vitamin D and zinc and borderline on several other nutrients. At that time I would forget if I took my pills as soon as I turned around, so within a few seconds I would already forget I took them. Today I am able to remember taking them, and I remember to give my fiancé his pills as well; I am also able to recognize which pills are which by color.
A year ago I could not turn my head because my spine and shoulders were so stiff. When I started taking biotin I started being able to move my neck and if I bent over I could feel the weight of my head jolt. It was like something was no longer attached, I could feel it drop maybe an inch then the jolt of the weight of my head. The closest example I can think of is to try dropping a melon in a shopping bag and feel the weight of that as it drops to the bottom. Now my spine and shoulders are holding my head up without issues.
Lloyd is light as a feather; his arm used to feel like 50 pounds when he laid it on me and now his whole body feels like air. Before my 11 pound dog could not even lay next to my leg because the pressure of his body lying on my leg muscle would increase the pain I was dealing with too much. Last year during the last month before I found out, I was even having trouble pushing myself up from the bed. It felt like my chest was caving in and it hurt a lot. I am just really amazed at how much has changed and how much I can do now. I can pet Hershey and even pick him up!
My hearing is so very different in crowds now. Before I could always hear the people farthest away in the room the loudest and the words would be mixed together so much I could not understand what was being said, just loud jumbled up words. The person in front of me would sound muffled, so low I could not understand what they were saying. Now I can be in a crowd and hear the different conversations and individual words are clear. The person in front of me does not sound muffled by the roar of the crowd speaking at the same time in the room. Recently, I have walked away from groups of people speaking to each other because I was starting to cry from feeling so happy to hear everyone. It is so different to hear everyone clearly and not feel drained by the loud noise of blurred words like before. I remember one time my daughter called me and I could tell it was her voice but I could not follow along or engage in a conversation because the words were just jumbled together but I didn’t want to stop hearing her voice. It is strange going from feeling fatigue just from sound to feeling warmth from hearing people speak clearly.
I am currently taking 120 mg of biotin a day, which is much larger than the 5 to 30 mg dosage that the US government is currently recommending. I was taking 60 to 80 mg a day but still having issues so I decided to try 120 mg a day and it worked much better. At the 60 to 80 I was still tired, could not really get into a conversation, still could not remember people’s names, had breathing issues and a weaker spine. All improved when I moved up to 120 mg a day. The difference in what it took to make me feel stronger and communicate better is much more than what is currently being recommended. I also finally was able to talk to another adult biotinidase patient which was wonderful. She is taking 60 mg a day and still having issues but concerned about taking more since she is already taking twice what the government is recommending.
According to National Center for Biotechnology Information one in 61,067 people have biotinidase deficiency and one in 109,921 have profound biotinidase deficiency like me. 1 The Census.gov website list the State of California population is approximately 38.3 million and the population of the United States is around 316.1 million. 2 That means as many as 627 people could be living with Biotinidase Deficiency in California and not even know it and of those 348 are profoundly deficient in vitamin B7. Also approximately 5,176 people in the United States living with this rare disease that causes the vitamin B7 deficiency and of those 2,876 are profoundly low. That is a lot of patients that are not being treated for Biotinidase Deficiency.
For patients or parents of newborn patients, please join our Facebook Group on Biotinidase Deficiency. We are learning about the disease together and have been able to help each other by discussing the issues. Through the support group I have learned that most doctors are not even mentioning to parents of newborns that they should be tested and other family members should be tested as well.
Biotinidase Deficiency is rare and causes patients to have a vitamin B7 deficiency; it is not the only cause of a vitamin B7 deficiency and there are many other vitamin deficiencies that are more common like vitamin D deficiencies. According to an article on the National Center for Biotechnology Information website vitamin D deficiencies in the United States could be as high as 41.6% of the population. 3 That would be 131.5 million people are living with a vitamin D deficiency. How many are actually being treated? How many are being treated for the symptoms of the deficiency instead of being treated for the deficiency?
How can we have healthcare reform that does not include testing for nutritional deficiencies as part of preventative care? Why is it so hard to find a doctor that can run nutritional deficiency tests and treat deficiencies? It just does not seem right to me and I am proof that it should be the first thing a doctor does before treating a patient. I also believe any patient being treated with long term drugs should have nutritional testing at least once a year.
I have never felt like speaking in front of a crowd; I took special speech classes in school because I had trouble with the pronunciation of many words. If I could ask the President and Congress one thing, it would be, “Why aren’t we treating the problem instead of the symptoms?”. Since I do not even know how to begin to do that I decided to start a petition to the White House. For my Re-birthday I am asking the White House to consider adding nutritional deficiency testing to preventative care and to allow nutritional supplements to be covered just like any drug would be covered under with health insurance. So for my Re-birthday please consider signing my petition to the White House to End Deficiencies . Also please take the time to go to EndDeficiencies.org and sign up for our mailing list and join our Facebook Group. The petition has to get 100,000 signatures within 30 days for the White House to even review the petition and give a response. Anyone 13 or older can sign the petition. Please sign by August 18, 2014 so we can get a response from the White House.
To Landon my little superman, thank you giving me life when I was losing it. Thank you Tasha for having such a beautiful baby boy and thank you to my sister Shellie for letting me know about the possible deficiency. Also again, thank you to the March of Dimes for requesting each state to add Biotinidase to newborn screening. California started the process of testing babies for Biotinidase in 2006.
This next year I hope to get started on writing a book about living with untreated Biotinidase and doing a Kickstarter to start a nonprofit for Biotinidase.org to be a resource for patients and doctors. I would think if a Potato Salad Kickstarter can get over $50,000 in donations, a Kickstarter for a nonprofit should get enough to provide resources for patients and to begin a campaign to end vitamin deficiencies; let’s hope.