MY STORY. Living with Homocystinuria
(Samantha’s story recently was featured in the HCU-USA Newsletter and she works with others to spread the word about this genetic disorder)
Tell us how you were diagnosed (for some that is through birth, some their diagnostic journey is much more complicated) 2) How has having HCU affected you, your family and your other relationships 3) What are some of your successes with HCU 4) What are some of the challenges have you faced and how did you overcome them 5) What words of advice would you give to families or patients who are just receiving a diagnoses.
I began my last semester of college excited for the year ahead, doing normal things for a college senior, thinking life after graduation and hanging with my friends. I was looking forward to our last performance of Step Sing, a campus – wide production unique to Samford University that engages with the community and raises funds for diverse organizations and is embraced by the student life and philanthropic missions. I was also looking forward to working with the athletic department like I had for the previous three years. It was during the three weeks of preparation for Step Sing, which includes practices that lead up to a performance many of my friends were getting sick, and I had been feeling well for some time, so I thought I just may have caught something like my friends, some kind of virus. In this case though I thought my usual sinus headaches were a little worse than and more frequent that I had experienced in the past. I was experiencing migraines that would go down my body and I was constantly feeling nauseous with these headaches. I until that time had not experienced the nausea associated with headaches. They came more frequently and eventually disrupted my lifestyle as they continued throughout the remainder of the semester at least once every month if not more. I went to the health clinic on campus and they kept telling me there was nothing wrong with me. Unfortunately with my previous healthcare concerns they would refer me to previous diagnosis and assumed they could not treat me without reviewing the symptoms of Chiari. As before one that has experienced everything I have I am familiar with the rareness of clinical diagnosis. And my unique medical concerns.
Luckily my mom liked to visit me every two weeks and she felt I also had an almost jaundiced look and weakness she hadn’t seen in years. So as usual my mom and I decided it would be best to schedule a follow up with my neurosurgeon in Iowa after graduation. I have an OC3 fusion to correct problems due to an abnormality in the cranial cervical junction also associated with Chiari Malformation, and with that follow up in May he told me my fusion was still intact and on his end everything was good. But as usual Dr. Menezes treat so many of us with rare genetic conditions he felt a visit to the pediatrics specialty group genetics clinic to get follow up blood test from when I was 13 years-old was necessary to confirm the source of my issues. He felt that after my initial surgery in 2006 I may have Loey-Dietz but at the time there wasn’t a test available to confirm the diagnosis. After those blood test came back I was diagnosed with Loeys-Dietz Syndrome and Homocystinuria. I didn’t know what either of those things were, but my mom and I were told the best place for us to go was to John Hopkins University Hospital in Baltimore, Maryland where Dr. Dietz was. What a blessing! Once Dr. Dietz and his assistant, Gretchen heard about my case and with no other alternative locally with LDS and HCU they also set us up with Dr. Gunay and a nutritionist, Celide Koerner, who are both very well educated with HCU. Having everyone on the same page (team) was incredibly educational and convenient. They explained to me that having both LDS and HCU is very rare, but for me that’s normal because everything I have I feel like has been unique to me, as my mom and I have called it part of the “ Samantha Syndrome”. Dr. Dietz, and others, refers to me as their unicorn.
Since this diagnosis came to me as a huge surprise really it’s been so hard to explain to family and those closet to me. Having HCU has made a huge impact on my life mainly because I was not diagnosed with it till I was 23 years-old and to be honest I really had no symptoms of it, at least none that I noticed. I have had to totally change my diet, because before being diagnosed almost every day for lunch I would have a turkey and cheese sandwich, obviously that is no longer my regular lunch. Changing my diet hasn’t been the easiest thing, especially with my parents owning a Mexican fast casual restaurant, though luckily I have found a way to continue to eat there. Thanks in part to nutritional calculators online. My parents are franchise owners of Salsarita’s Fresh Mexican Grill and on the website there is a nutrition calculator, so before I decide what to eat I put in what I’m thinking of getting and that’s how I decide what to eat from there. My family has helped me make the transition really easy my parents and grandparents are always helping me find new recipes to try, which for me has been a good experience because having to try different things to see if I would like them is not something I would have done without this diagnoses. Also I am “no fan” of those supplement drinks and honestly just the look grosses me out, so I have found ways of still taking them but without having to look or taste them, I make my own smoothies with them, which taste and look a lot better. Thanks, MOM for the counseling. My Mom even goes to whole foods to find energy shots and such then so I know I’m not alone she gags them down with me. Sometimes weirdness is awesome.
I have actually over three years my homocysteine count has decreased down from 250 to below 50, with the help of folic acid, B6, B12 shots monthly, beatine, and the change of my diet. The hardest part for me has been the change of my diet, as a 25 year-old and having to change everything from what I used to eat and seeing your friends enjoy things you used to be able to isn’t the easiest but I have such a great support system that it makes everything easier.
I have been so thankful for my doctors and nutritionist at John Hopkins who have connected with me some girls with in the HCU Community because for me it’s easier to hear stories about other people getting through this knowing that I am not the only one having to deal with this change in diet. And the time spent educating us has been invaluable and meant the world to me and my family. I really have the best medical support system in the world and I am thankful. The real struggle for me has been cutting back my protein intake because I have found out is it’s so much harder than it looks. Since my diagnosis I have been reading more and more labels on food and going to restaurant websites trying to find their nutrition information so my family can still get things they want to eat and I can get what I can have as well.
I have also learned from guidance about having a nutritionist you can trust and include in your wellness approach is beneficial for anyone with such a change in lifestyle. I’m in this for the long run with a positive and healthy outlook. It’s so important to seek out and become educated. How can I be successful in this journey? Be resourceful, be confident and lean on friends, family and others living with HCU. Of course be honest with yourself and your medical team lean on them and keep an open mind. That’s my recipe for living well.