Samantha from Kentucky
I began my last semester of college excited for the year ahead, doing normal things for a college senior, thinking about life after graduation and hanging with my friends. I was looking forward to my 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, that many of my friends were getting sick. I hadn't been feeling well for some time, so I thought I just may have caught something like my friends had, i.e. some kind of virus. In this case though, I thought my usual sinus headaches were a little worse than and more frequent than 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. Until that time, I 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, occurring 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 referred me to my previous diagnosis, Chiari, and assumed they could not treat me without reviewing the symptoms of that disease. As one that has experienced everything I have, I am familiar with the issues with clinical diagnosis of rare diseases, 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 Dr. Menezes treats so many of us with rare genetic conditions that 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 that blood test came back I was diagnosed with Loeys-Dietz Syndrome (LDS), a connective tissue disorder similar to Marfan’s, 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, it’s been so hard to explain to family and those closest to me. Having HCU has made a huge impact on my life mainly because I was not diagnosed with it until I was 23 yrs. old, and even though I really had no symptoms of the disease that I noticed, I had to totally change my diet. Before being diagnosed, almost every day for lunch I had a turkey and cheese sandwich, which obviously 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, Salsarita’s Fresh Mexican Grill.
I have found a way to continue to eat there, thanks in part to nutritional calculators found on Salsarita’s website. So before I decide what to eat I input 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 diagnosis. 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 at 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, so I know I’m not alone when she gags them down with me. Sometimes weirdness is awesome.
I have actually over three years dropped my homocysteine count from 250 to below 50, with the help of folic acid, B6, B12 shots monthly, betaine, 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. Seeing your friends enjoy things you used to be able to isn’t the easiest but I have such a great support system that makes everything easier.
I have been so thankful for my doctors and nutritionist at John Hopkins who have connected with me some girls 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 and lean on them and keep an open mind.
That’s my recipe for living well!