Sarah from North Carolina
Hi, my name is Sarah May. I am 16 years old and I live in Kernersville, North Carolina! I am a patient that is living with Classical Homocystinuria. I was diagnosed at birth through Newborn Screening, as a result of a high methionine level. I am here today to tell you about my life from beginning to up until now, and how I live an everyday life with such a unique and rare genetic condition. But before we dive in, I want to thank my Metabolic Geneticist and Nutritionist at the UNC Chapel Hill Genetics clinic located in Raleigh, NC and of course my family, who have been with me since birth, helping me to navigate through the hardships and find out who I really am.
The Beginning (Diagnosis):
Like I said above, I was diagnosed with Classical Homocystinuria through Newborn Screening. While I am sure that the news must have been scary for my parents, we now know what a huge blessing it was to get a diagnosis at birth. My parents had two children prior to me - my brother, Jackson (now 21) and my sister, Emily (now 19), so the news that I had a rare disorder came as a total surprise. My mom once told me this story which she now calls her ‘testimony’. She said that she was on a trip with my dad and she kept having this sudden gut feeling that something was wrong with her pregnancy, so she went and checked in with her doctor when they were back in town. The doctors kept telling her that there was nothing wrong, and that as far as they could tell, I was a super healthy baby. But my mom knew deep down that something just wasn't right. During the pregnancy, my parents experienced a move to North Carolina from where they originally lived in Abingdon, Virginia. To make a long story short, moving to North Carolina was what my mom thinks of as god’s intervention, because if we had not made that move, my HCU would have not been detected through newborn screening due to the difference in newborn screening between NC and VA.
After I was born, I spent 6 weeks in the NICU and from there I was sent to the UNC Chapel Hill clinic to be under the care of a geneticist. My mom was immediately told to stop breastfeeding. She remembers saying to my doctor, “If you can just tell me how to feed her and tell me what I can pack her for lunch on the first day of kindergarten, I can figure this out.” After that appointment, boy did my parents realize that they were in for a journey! Day by day my mom figured out new tactics and ways for me to take my medications. Next up was dealing with toddlerhood and then came the first day of big girl school! My mom felt that since I was young, she was able to watch over me and make sure that my food looked like everyone else's, made sure I fit in, and was eating the foods that were good for my diet. But, as elementary school approached, my mom’s anxiety grew. She worried about me feeling out of place or different than the other kids around me. But, as always, we got through this next phase of life as a family. I am forever grateful for the love and support from my entire family, for example my grandma. As an infant my family (and baby me!) had to travel to Chapel Hill for appointments every three months, and as I got older that turned into every 6 months. My grandma was there for every step of the way - she never missed an appointment and was always there to be my mom’s backbone.
Together, we entered into the next phase of life, which brought along with it many sports that intrigued me! I am now a teenager, and I think that this phase has made my mom the most anxious of them all. I say this because after going through this my whole life, I’m able to pick up on things. In this phase she has had to let me figure things out, which means learning to care for myself, and I know that has been very hard for her as a mother. It has been one long journey but we are here today and I am so beyond proud and grateful to say I am healthy and I wouldn't be the person I am without the help of my hardworking, fearless mom.
- I have been able to play the sport I love (softball) and in my last two high school seasons, I’ve played in the North Carolina Softball State Championships!
- I’ve been able to stay grounded and be confident within my own body and navigate through all life has thrown at me, including HCU of course!
- I have been recognized for being in the top 20 of my class for both freshman and sophomore year, and hoping to continue on!
- I made the volleyball team at my high school and have played all three years.
- Finally, I won’t keep making a boring detailed list but… I have overall been able to establish a routine to keep myself healthy, which includes making sure that I am taking all of my medications.
While reading this list of my successes, I hope the readers (of all ages) are able to realize that they, too, can do this! Yes, there are going to be failures and hardships. But I have always learned to keep my head held high and keep pushing forward. To those of you struggling with the diagnosis of HCU and trying to live a ‘normal’ life with it: the future holds great things for you, too.
Hope for the Future:
I have a great feeling about the future for HCU and the patients and families involved. I have really enjoyed being able to experience going to conferences where I can meet other people my age (also younger and older!) and hear about their journeys. Hearing others’ perspectives has helped me as a patient because it helps me feel at ease. I really encourage all patients and families, if possible, to join us in these conferences where you can experience new information and learn about new studies going on in the HCU world! These conferences are what have given me hope. I hope in the future that there could be a cure; whether it be a shot, gene therapy or any other option. Maybe not even a total cure, but something that makes taking my medication easier or takes away some of the bad taste from the betaine and the formula. I also hope that food distributors can think about the money spent on these special foods because it is not cheap at all compared to foods bought in grocery stores.
One last thing that I hope for this community is that we can identify ALL cases of HCU at birth, rather than some patients experiencing life threatening situations for them to figure out they have this condition later on in life. The future is bright for the HCU community, and it just continues to get brighter. Our community is full of strong people, and is a place where there is no judgment.
I encourage all families and patients to stay connected through the website or social media pages. This can help you stay in contact with other patients, hear about recent studies, discover new recipes and finally hear about events occurring within the community! It has been a pleasure being able to share my story personally with the community and I hope that after reading this I have been able to help you or lead you through guidance for your journey also! Always remember that we stand together and you are not alone. Thank you!