My Genes are Rare

Today is Rare Disease Day across the world. In honor of this day-I wanted to take the time to share about my rare disease, how I was diagnosed, what affects it has had on my life so far, and what affects it could have on my life in the future. My rare disease is called Homocystinuria, more commonly referred to as HCU. It affects 1 out of every 300,000 people world wide.

Homocystinuria is an autosomal recessive genetic disorder, meaning both parents must be carriers of the gene mutation that causes the disease. HCU is a metabolic disorder where the body cannot break down certain amino acids in protien, specifically Methionine and Homocystiene. The most common form of HCU is caused by a mutation on the CBS gene. The CBS gene provides instructions for producing an enzyme called cystathionine beta-synthase. This enzyme acts in a chemical pathway and is responsible for converting the amino acid homocysteine to a molecule called cystathionine. As a result of this pathway, other amino acids, including methionine, are produced. Mutations in the CBS gene disrupt the function of cystathionine beta-synthase, preventing homocysteine from being used properly. As a result, this amino acid and toxic byproducts substances build up in the blood. Homocysteine and Methionine are found to be extremely high while cystathionine are found to be extremely low.

Babies are screened for Homocystinuria at birth in most states and countries, and there are advocates that are working on getting the newborn screening approved in the states and countries where it is not already occuring. However, the newborn screening does not catch half of the cases with this disease. Many children are diagnosed during their childhood years, and some even in their adult years. In my case, I was diagnosed at the age of 25.

Many research shows that Homocystinuria can be a deadly disease. According to research, people who are undiagnosed or untreated could likely die by the age of 25. This is because when the Homocystiene level accumulates in the blood it makes the platelets in the blood sticky and can cause blood clots which ultimately can lead to heart attacks and strokes. I, thankfully, have a more mild form of HCU. When I was diagnosed at age 25, my Homocystiene level was 238 (normal is 5-15). That seems pretty high, but most people when diagnosed even at a young age have a Homocystiene level in the 400's.

I was diagnosed with Homocystinuria after the lenses in both of my eyes became subluxed, or dislocated. The zonules (ligaments) holding my lenses in place began to break apart because of the build up of Homocystiene in my body. My entire life I struggled with extreme nearsightedness. The only explanation I was given was that my eyes were elongated causing the vision to be so poor. But I was legally blind by the 8th grade, and when I was in high school my eye doctor told me I had the worst pair of eyes he's ever seen (vision wise). By the time the lenses were found to be dislocated, I could no longer correct my vision with contacts because no one made them strong enough for me. My perscription was -20 and -25. I failed the vision exam to renew my driver's license and that's when I went to my eye doctor and said something is seriously wrong. That was the beginning of my journey with HCU.

I consider myself pretty lucky actually. Lens dislocation is one of the most common signs of HCU, and after joining support groups on Facebook, it made me realize how many young kids suffer from dislocated lenses at ages of 5, 8, 10, ect. I also realized that my parent's were lucky that because I have a mild form of the disease, I was never developmentally delayed, I've never had siezures, and I've never suffered from blood clots like a good majority of the kids with HCU experience. In the beginning of my diagnosis I experienced feelings of anger-that no one ever caught my disease when I was younger. I thought if we had caught it earlier maybe I would not have had to have 3 major eye surgeries because we could have prevented my eyes from getting so bad by taking the medication and food supplements and restricting my protein intake. But then again-I am glad I got to enjoy my childhood without having to restrict what I ate and having to worry about taking medication every day.

My treatment for my disease consists of restricting my protein intake to 30 grams a day. This was a huge challenge in the beginning because my favorite food was a nice juicy Ribeye Steak! Just one steak has more than 30 grams of protein! After a few months of not eating steak I now think it is the most disgusting food ever. I have not given up chicken and never will. I know there are days when I eat much more than 30 grams of protein too-sometimes I just want to eat something with substance to it! In addition to the protein restriction, I have to take food supplements. It took me awhile to find supplements that I could tolerate the taste of them as well as were convienent to take with me to work. My supplements are called HCU Coolors. They contain 15 grams of protein in them, but protein without methionine (which is in meat). Along with the food supplements, I take a medication called Betaine Anhydrous, a white powder medication that looks like cocaine (I think) and makes me feel like I'm a drug user because I have to measure it out using a weight scale to 4.5 grams twice a day. I mix this medication with the food supplements for the convience. Lastly, I take Folic Acid, Vitamin B12, Calcium, and Vitamin C which are all vitamins I lack from the food that I can eat. They have also helped keep my Homocystiene level well under control.

The down fall of having this metabolic disease is that it is RARE. Because it is rare, employers elect out of covering its treatment with their insurance plans. The first year I was diagnosed-I paid $37 every month for my medication. I was trying all different kinds of food supplements so those were free, at first. The second year of my disease I decided I was tired of paying the $37 every month and wanted to see if my insurance would pay for it. It was absolute hell working with the insurance companies-I literally felt like I could have killed someone-they made me that angry. They kept telling me Cystadane was the generic form of my medication which was not the case at all! I was already on the generic form. They tried telling me they would cover Cystadane but because it was so much more expensive it would now cost me $75 a month out of pocket. We eventually got the benefits person at my husbands company involved and she was able to get the Betaine approved for me at just $15 for a 2 month supply! My food supplements were approved right away by Anthem but I still had to pay $60 a month for those. But now that we have switched insurance carriers again, we are back at square one trying to get these essential treatments approved. It really does frustrate me that working for a hospital network that I got a letter this week which stated they will not approve my medication or food supplements no matter what-no matter how many appeals we apply for. Thankfully, Ohio has a state mandated formula/food supplement program where I will now be getting my food supplements at no cost to me. So now we just have to figure out the medication issue or I will have to pay $37 a month for the rest of my life for my medication.

The biggest downfall of this disease is the unknown affects on pregnancy. There is limited research in this area. The research that has been done shows HCU has a high risk of miscarriage. Why? I assume because of the increased risk of blood clots developing and the lack of protein intake to sustain a growing baby. When I was diagnosed with HCU-the doctors immediately thought it was the cause of Riley being stillborn and Braylen being miscarried. When I got pregnant with Logan I got put on Lovenox injections to prevent blood clots from developing. I took the same injections when I got pregnant with Audrey. And I will take the same injections with any future pregnancy. These injections are much worse then the hormone injections I have been taking over the last 3 weeks. They burn and leave bruises all over my stomach. There is also research that states Lovenox can actually cause miscarriage and problems in pregnancy. It is a complete double edge sword.

Going forward with our IVF cycle, the best thing I can do is to manage my disease by being compliant with my diet restrictions, medication, and food supplements. Thankfully, I get my levels drawn every 2 months and the last three times I had them tested my Homocystiene level's were 14 in August, 10 in October, & 20 in January. I will get my levels retested in March, probably when we are in Columbus for our embryo transfer. I am hoping my level has remained around 20, but it would be great if it was back down to the 10-15 range! I just pray that this disease does not cause me any major problems during this upcoming pregnancy and does not end my pregnancy in another miscarriage or stillbirth.