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Vitamin B6 and Hypophosphatasia

Vitamin B6:

Patient’s with Hypophosphatasia (HPP) typically have high levels of Vitamin B6 in their blood. The level is not just high, it can be 5 to 6 times higher than the upper limit and because this is very common in HPP patients it is often used as a tool to help when diagnosing HPP. The reason the Vitamin B6 levels are so high is because the enzyme Alkaline Phosphatase (ALP) is responsible for regulating vitamin B6 intracellularly in the blood. In HPP patients our bodies do not make enough ALP, and therefore we cannot regulate Vitamin B6 in our blood like a normal person which leads to these high levels. Here is a photo of my lab work showing how high my level was.

As a general into to B6, Vitamin B6 is one of eight B vitamins, where B vitamins are important for proper cell function. It is water-soluble, so they aren’t stored in the body normally, and we are supposed to get our vitamin B6 through what we eat. Vitamin B6 specifically is involved in immune function, brain development and more. You can also find vitamin B6 in many tissues and organs including the Blood, liver, intestines, muscles, bones, kidney, brains and more. So, it truly is an essential vitamin.

Often times the assumption is that because the vitamin B6 levels in the blood are so high that HPP patients experience vitamin B6 toxicity.

One of the questions I was asked to look into in terms of research was “Do we (HPPers) actually have B6 toxicity or do we have b6 deficiency because we don’t break down the B6 into pyridoxine.”
Basically, do we really have B6 toxicity (too high) or deficiency? The answer was actually fascinating!

I came across several research papers, the first titled “Perinatal Hypophosphatasia: Tissue Levels of Vitamin B6 Are Unremarkable Despite Markedly Increased Circulating Concentrations of Pyridoxal-5’-Phosphate.” What they did was collect tissue samples from multiple areas of the body of Hypophosphatasia patients, including the Plasma, Vertebra, Liver, Kidney, Muscle, and Brain and measured the Vitamin B6 directly in those tissues.
The reason they wanted to do this type of testing was this: “Of interest, except for the occasional occurrence of seizures or nephrocalcinosis in the severe forms, we noted that manifestations of B6 deficiency or intoxication are generally absent in Hypophosphatasia.” We do not usually show signs of actual B6 toxicity even though our plasma levels are usually very high.

The plasma PLP was high as expected but surprisingly the B6 in all the tissue samples were normal. They determined that Alkaline Phosphatase is what is called an Ectoenzyme, which just means that ALP works to regulate B6 intracellularly. This means ALP is regulating B6 within the blood, but it does not regulate B6 elsewhere in the body. Some other enzyme is regulating the B6 levels within the tissues. This is why the tissue samples showed normal levels of B6 and why HPP patients who have high B6 levels do not show actual symptoms of B6 toxicity or actually have B6 toxicity. I want to be clear that this is not simple or cut and dry and there can be times when this may not be the case.

So, the answer to the question “Are HPP patients truly B6 deficient of toxic” is in most cases we are neither. The instances where vitamin B6 related seizures happen is sort of an outlier and I have not dug into more in-depth research on that yet. There are other tests that can be performed to see if you are vitamin B6 deficient/toxic, but usually these aren’t warranted unless there are some symptoms that could be due to B6 toxicity of deficiency.
My next post is about a new paper out where a newborn had severe life-threatening perinatal HPP but when they checked his B6 levels they were normal, it’s a fascinating case study. I really hope this helps in some way and makes sense, if not, please feel free to ask questions or for clarity. I am looking forward to posting more and shedding as much insight as I can.

I just wanted to say thank you to my friends at SoftBones for allowing me to do this and for providing me with additional research papers. It truly is a collective effort to make a difference for patients, and I am very grateful for their help.

Sources:

[https://www.mayoclinic.org/drugs-supplements-vitamin-b6/art-20363468]

https://www.sciencedirect.com/topics/chemistry/vitamin-b6

FertiStrong: Infertility Application.

This post is part of a paid sponsorship by Ferring Pharmaceuticals. All opinions are my own.

As you all know, my wife and I faced infertility over the last couple of years and this was one of the toughest situations our marriage had to go through to date. We tried absolutely everything to get pregnant, which included invasive testing, medications and eventually in vitro fertilization (IVF). It was really hard to go through as a couple, but especially hard on my wife who endured way more than I ever could imagine or would want her to. A lot of people have said, “you’re young it’ll happen” or asked us when we were having kids, not knowing we were struggling very hard. Sure, we are young but the fact that we faced serious infertility this was the best time and chance for this to be successful.

My wife had hundreds of shots, more invasive tests and uncomfortable procedures and faced some complications during the IVF process that, as a spouse, was so hard to see. We ended up with five embryos that we could try to transfer and get pregnant, which is a good number. However, our first two embryo transfers failed and we were devastated. The amount of money, time, health problems and emotional up’s and down’s we faced to then be hit with two failed attempts was extremely difficult.

Why am I telling you all of this? Infertility brought on a whirlwind of emotions and depression for my wife and I that could get serious. I wish during this process I had more tools to help me cope and allow me to help my wife cope as well. As a couple, we did not place the blame on one person or the other because we are married and this isourjourney but having some outlet would have been nice. I will NEVER compare what I experienced versus what my wife went through as I acknowledge that she endured the brunt of all of it.

I feel as though the male aspect of infertility is not touched on much. While this makes sense, it’s especially important to realize as a spouse because there were things I dealt with and I know other male partners who dealt with it as well during IVF which is why I am writing this post today.

I recently was asked to review a mobile application (app) called FertiSTRONG, which is a resource specifically for men to use during the journey of infertility. The mental health part of facing infertility is huge and can play a big role in how we face the situation. As males, I know I personally don’t just love sharing specific parts of what I feel but do it to hopefully help others. The FertiSTRONG app is a really good resource for how to deal or cope with each phase of infertility. It has resources that are very specific to each part of the journey and also provides ways to deal with stress, address relationship issues and communicate better with your partner. There are so many aspects to infertility and I think FertiSTRONG does a great job at addressing and providing support for each stage. Infertility can be a long drawn out process, which means it can have a huge toll on your mental, emotional and physical health which is why having an outlet or resource can be really beneficial in the long run.  Using an application like FertiSTRONG provides that outlet of support and ways to cope through meditation techniques and additional resources that you can do whenever and wherever you may need. I was impressed overall with it and the number of topics it had to choose from.

Thankfully our story does have a happy ending. Our 3rd embryo transfer was successful and my wife gave birth to a baby boy named Jude Elliot Blocker on September 26th, 2018. However, even with the success of this last transfer, we still dealt with a lot of fear and anxiety at the beginning of the pregnancy, which improved only as time progressed and Jude’s arrival grew closer. I hope that if you and your spouse are experiencing infertility, that you take the time to check out the FertiSTRONG app, which can be downloaded directly through the App Store on your phone. I also hope you reach out to someone to talk about how you feel during the process because it truly is draining but in the end, it is all worth it.

My Journey with Strensiq for Hypophosphatasia.

When I was diagnosed with my ultra-rare genetic disease Hypophosphatasia back in August 2017 I was told there was only one approved medicine to treat the disease and not every patient is eligible to get on the treatment. The main reason is that the drug is only approved for patients who have a specific form of the disease based on the age of onset, which for this disease its called perinatal/infantile, juvenile & childhood forms basically presenting symptoms before the age of 18. So after a few months of making sure I met the guidelines, which I did we decided to start working to get this medication. My local doctor had never seen the disease before, neither had my geneticist so I decided to find a doctor who specialized in treating the disease and could also make sure that this is what I should be on.

I ended up at Vanderbilt in Nashville Tennessee with Dr. Katherine Dahir, who is incredible by the way and one of the worlds leading specialists in the disease, so she did a complete evaluation of me. After a day of tests and her realizing that I have been affected by the disease from birth and it has absolutely ravaged my skeleton, she agreed I needed this drug. So after months of making sure we had enough information to prove I had onset prior to 18 and that I do have the childhood onset of the disease, we finally got approval for me to get on Strensiq and I received my first shipment July 21st.

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What is Strensiq?

This is a big question people have asked. Well, it is an enzyme replacement therapy that replaces the enzyme my body can’t make, and what it does make is not fully functional. The enzyme is called alkaline phosphatase (ALP) which I have detailed in other posts     ☞ Hypophosphatasia: What is it? and Hypophosphatasia: My Story but basically, this enzyme allows important minerals into the bone including calcium, magnesium, and phosphorous and also regulates vitamin B6 levels which if too high can cause nerve damage and in children can cause seizures. Without enough ALP these minerals cannot enter the bone and they circulate in the blood collecting on organs which can be damaged and cause a lot of the symptoms associated with the disease. Strensiq will allow my bones to take up the minerals and hopefully strengthening my bones while also getting rid of excess calcium, B6 and the substrates that build up in my body which are detailed a little further in the post.

So I will be taking this injection 6 times a week for the rest of my life, as long as I respond to it of course. Dr. Dahir stated we are playing the long game with treatment meaning it could take years before I see dramatic improvements in pain and quality of life but I should start feeling a little better sooner. While I am not thrilled about doing 6 shots a week, it is much better than the alternative. My osteoporosis is really severe and I am trying to make my hip replacements last as long as they can. The disease is progressive overall and I potentially could end up in a wheelchair, but hopefully, with this medicine, we can prevent that or at the very least slow it down. It’s not a cure or a silver bullet but its the only chance I have at getting better. Also, the price tag on this drug is absolutely insane. It costs way way way more than any of the IBD treatments available. It is one of the most expensive drugs on the market. I was in shock at the monthly amount. Just saying.

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Long-term goals:

I have had a lot of people ask what are the long-term goals of treatment for me. Because this disease is so rare I am planning on documenting as much as I can about my experience with the drug and improvements I feel. So here are my current problems and what we are hoping to address with treatment.

• So my bloodwork shows I have high levels of calcium, magnesium, phosphorus, vitamin B6, phosphoethanolalamine and inorganic pyrophosphate which helps in bone mineralization, just free floating and not getting into my bones and causing the manifestations of the disease. So these will be levels we can monitor with treatment to see how it is working.

•I have severe osteoporosis (severe is really an understatement), muscle weakness, severe pain, and disability. My bone and muscle problems are just really severe which is hard to really explain in words. I am way below average on daily activities that should be easy. I have a hard time getting myself dressed and putting my shoes on. I did a 6-minute walk test at Vanderbilt which I was way below average on. Basically, I am slowly losing the ability to be independent in my daily life.

•I have kidney problems due to excess calcium in my body that we can’t get down to normal levels, this is also causing other issues but kidney damage is the most pressing.

• I have had 4 total hip replacements because of avascular necrosis and my bones and muscles have been too weak to keep my implants in place and I also have AVN above my knees/end of my femur bones and in one shoulder. The AVN will not get better but hoping to slow it down but truthfully it may not given the nature of AVN.

• I  have really bad headaches & “brain fog” that are known to happen with Hyphophosphatasia.

Long-term as a whole I am hoping to have a decrease in fatigue, improved muscle strength, bone strength and really just preventing further damage to my kidneys and keeping hip replacements in. My quality of life is way less than I want it to be and the pain I experience is debilitating. There is a chance I could end up wheelchair-bound at some point so hoping treatment slows that down. As I am finishing this post I am a few weeks into treatment (my first 6 shots) and its been a rollercoaster. The first round of shots I was so tired the next day I could barely function, the second dose wasn’t as bad I didn’t feel as tired but did have more bone/muscle pain and the the third dose I didn’t feel much different than the others. It is a rollercoaster though as some days I feel okay and then this last week I have been really sick. The skin reactions really suck though as pictured below.

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I am also on Humira for my Crohn’s so two weeks out of the month I do 7 shots a week. One big difference as far as handling Strensiq vs Humira is that Humira is good at room temperature for 14 days. Strensiq is good at room temperature for 1 hour. So that is stressful if I have to travel.

My goal is to share as much as I can about my journey with an ultra-rare disease, while also learning as much as I can. Hopefully by sharing my experiences with this that it adds to the growing knowledge of this disease and treatment as a whole. There are very few of us Hypophosphatasia patients out there and I want to share as much as I can to hopefully help others. This journey has been hard and I have had to put a pause on important aspects of my life and I am hoping with treatment I can get back to my goals and feel myself again. I will fight and I am hopeful.

on62948

World IBD Day 2018: IBD Beyond Borders

Every year May 19th is World Inflammatory Bowel Disease (IBD) day, which is a day where people from all over the world affected someway by IBD, come together to share our stories and raise awareness for the disease.  This year the theme is “IBD Beyond Borders” which I think is a great theme that not only addresses the fact that IBD can affect any person no matter the gender, age, and ethnicity or class and that IBD can affect an individual beyond the gastrointestinal tract (GI tract) as most people automatically assume IBD is just in the small or large intestines, which unfortunately is not correct.

IBD Can Present Symptoms Beyond the Borders of the GI Tract:

While a good portion of disease presentation and inflammation is in the GI tract the disease can go beyond the borders of the bowel and affect the bones/joints causing enteropathic arthritis, can cause inflammation in the eyes known as uveitis, can cause skin inflammation and damage where the most common skin condition is erythema nodosum but not the only one, and can also cause severe fatigue, huge weight fluctuations, anemia and more. IBD can have systemic effects on an individual that also have to be addressed.

Your IBD is Your IBD:

This is important because IBD is different for EVERY patient and can present in many ways, which can make it hard to diagnosis.  I have heard stories from patients who never really had any GI symptoms that would indicate IBD but had arthritis and skin problems and come to find out they had IBD. When we realize IBD can present in many different ways this can help patients be diagnosed sooner and prevent further damage. Patients with IBD including myself deal with stigmas associated with the disease because it is seen as mostly a bathroom disease, which yes during disease flares this can include multiple trips to the bathroom and severe GI distress but it is so much more than that.

For those of us with IBD every day is world IBD day but when you have a day dedicated specifically to the disease and raising awareness it starts a conversation that allows us to work on ending stigmas and show the real side of this disease so people can see what we go through and the impact this disease has on our lives.  . It is mentally and emotionally draining some days to live with IBD and to be able to bring awareness and openly discuss it on a day like IBD is huge for this community. When this happens it not only helps patients feel better but also helps bring the disease into the public eye, which can help bring in more funding for research into new treatments, and cures.  If you are not familiar with IBD ask someone to share a little about their story with you and how the disease has impacted their life. So today no matter what country you live in let’s bring IBD awareness across every border in hopes of making the future and landscape of IBD better.

on62948

Hypophosphatasia: My Story.

Today is hypophosphatasia awareness day and I wanted to talk about my new diagnosis and what this means for my health. If you want to learn in depth what the disease is you can read my article I posted yesterday ☞ Hypophosphatasia: What is it?

Hypophosphatasia: My Story.

My entire life I have dealt with skeletal abnormalities and we never knew why. I was born with bowed leg bones where my tibia bones in both legs are literally bent. I had to wear braces to bed every night as a child to try and help correct the bowing. As I got older I was told I could have surgery to correct my legs but it would be a major surgery and I would have to learn how to re-walk so we decided against it. Throughout my childhood, I broke A LOT of bones and had issues with my teeth and slow healing. I broke my fingers, wrists, elbows, shoulders, and nose multiple times and dealt with a lot of bone pain and muscle weakness.

When I was diagnosed with Crohn’s in 2009 my doctors seemed to attribute everything to that, including my weak bones. It wasn’t that much of a stretch given malnourishment and brief use of steroids. However, when steroids absolutely devastated my bones in a very short amount of time my doctors were confused but never looked for an answer.

The clue to my diagnosis was in my blood work the entire time.

After my hip replacements failed only after three years I knew something else was going on and decided to do something about it. After checking all of my medical records I noticed one trend, which was low ALP, and not just barely low they were super low. Eventually I came across Hypophosphatasia and I checked off every box. I brought it up to my medical team as we were getting ready to start osteoporosis treatment, which could make things worse for HPP patients they decided to send me to an endocrinologist. We went over my history with the bowed legs, severe osteoporosis, 4 total hip replacements and that I have broken too many bones to count he believed Hypophosphatasia seem to fit. He wanted to do a vitamin B6 test and that came back high, which is very specific for HPP so, we decided it was time to see a geneticist because that’s the only way to get a definitive diagnosis. About two weeks after I saw my geneticist for the first time I got the news that I did, in fact, have a mutation in my ALPL gene that is causative for Hypophosphatasia and that all of my crazy skeletal problems from birth were due to the disease and after 25 years of not knowing, we finally figured it out.

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It’s extremely rare.I did not really understand the gravity of it all until I sat down with my geneticist and we started going over the disease. First off it’s extremely rare, which makes it even harder because only a few doctors specialize in it and there aren’t many others to connect with. I found out that it could affect my entire body such as my kidneys, brain, and lungs. I was told it’s progressive so gets worse over time and a lot of patients lose the ability to walk and over the last year I can really feel my health has declined. It has complicated my entire health situation because of also having Crohn’s that can affect multiple organ systems as well and we have to figure out the best way to treat each disease.

There’s something I haven’t shared publicly yet about my hypophosphatasia.

As a person who is chronically ill, my biggest fear is that my children will be sick. With Crohn’s I have that fear but it’s not 100% genetic so there’s hope I would not pass it on. Hypophosphatasia is different, as you have to inherit the mutation to get the disease.

Mine is autosomal dominant.

This means that with every child I have there is a 50% chance they will inherit my mutation and get the disease. Doesn’t matter if my wife has a mutation (she doesn’t) and if we have one kid who inherits it that does not mean the second won’t. There is a 50% chance with each child no matter what. That was even harder to grasp. I know what I can handle. I’m strong and can push through, but my kids? I would never wish my health problems on anyone but especially not my children. The silver lining to this is that we know what to look for ahead of time and can allow my medical team to keep a close watch on our future children and have medication available right after they are born if needed. We know that steroids make things worse and to avoid them as much as possible.  Knowledge is power.

Outlook:

 Now that we have a definitive answer we at least know what to be monitor. I have had so many tests ran recently, with a lot of focus on my kidneys. My kidney function tests are a little elevated meaning it looks like HPP is affecting them. Nothing major right now but we have to monitor them closely. I have more people on my medical team than I ever have previously because HPP can have systemic effects. GI monitoring Crohn’s, Rheumatology is monitoring my arthritis, my orthopedic surgeon is revaluating my hips and prosthesis, endocrinologist is monitoring the HPP and Osteoporosis and my PCP is monitoring all kinds of stuff. It’s overwhelming to say the least.

There is only one treatment available for HPP and it is an enzyme replacement shot that is only approved for the prenatal, infantile and childhood forms of the disease. After consulting some prominent specialist they all feel I should qualify for the treatment so we are currently pushing to get that approved.

Being diagnosed with any disease is hard, and even harder when it’s an ultra-rare disease with very few people to connect with and treatments available. Like I stated previously the clue to my diagnosis was in my blood work, but no doctor knew what to look for and I hope to help change that. My doctors have told me with all of this they are learning what to look for and getting more familiar with the disease themselves. I was asked by my medical team if I would let them write up a case study on me for a paper and future textbooks, in an effort to help educate the next generation of doctors, which I said absolutely. IBD will always be a part of my life and something I advocate for, but I really intend to focus on HPP for a while because of how rare it is there is a lot of work to be done.

I will fight as hard as I can for a better future not only for me, but others as well with this disease.