HCU Network America

Sarah

Sarah from North Carolina

Introduction:

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.

Living with HCU:

As a small child, I never really struggled with negative feelings about my HCU. It wasn’t until I entered elementary school and from there on that I began to notice it. At this point, all I wanted was to be like the other kids in my class. No other kid had to take multiple medications, drink a formula (that doesn't smell great), or eat certain foods that weren't “real”. I always asked my mom what was wrong with me, because of course, I didn't understand. I can remember having a conversation with my mom one morning where I told her, “Mom, I can't wait to go to heaven so I don't have to have this.”

As my childhood went on, it really worsened through the grades where I was able to better understand what was going on. I would sneak foods that weren't good for me just so I could be “normal”. My geneticist always told me that it was normal to have these feelings. It took a long time for me to really “get it”, but then it finally stuck somehow. My biggest struggle has always been, and still is, taking my formula and betaine. They both have a really bitter taste and have a distinct smell. Other kids would ask me “What is that?” or say things like “Ew! That stinks.” I had to learn to accept the fact that HCU was a part of me, and this is the way life was going to be.

At about the age of 8 I started playing softball, and it has been a lifelong passion from then on! Softball was almost a freedom to me; it made me feel normal. But I always had to consider HCU along with playing sports whether it be taking my formula before a game, or being careful with my bones because of being perhaps more susceptible to osteoporosis. As I finished middle school and entered high school, I was confident! It has been a long ride and is not something I would say has been easy at all. Today, I’m a junior in high school. I know that as high school comes to an end, I will be experiencing a 'new normal' with HCU as I’m sure I’ll have changes in routine. But I am beyond ready to make these big life changes and excited for what the future brings!

My Successes:

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.

To all newly diagnosed HCU Patients:

There are many words of wisdom and lots of advice that I could give to all patients having struggles with HCU. But here are just a couple that I can discuss in the little space and time I have here. I will start off with advice that I can give to adults parenting a child that has HCU: I encourage that you as a parent offer support and guidance for your child. After all, it is as new to them as it is to you! I also encourage you to try new things, make new foods, and find new recipes. The more options, the better! Also, reach out. There are plenty of parents and children who want to connect with others in the community, and this can make your journey a little easier.

Some advice I can give to children/teens and adults struggling with HCU is to be confident first of all. You are no different than anyone around you! Stay in a routine with your medication, make sure you are taking all of your formula and betaine, or whatever it may be to stay healthy. Lastly, don't let HCU define you! Find a hobby or sport that you love. For me, being active in sports that I love has helped to keep my mind from focusing on what makes me different.

Now I want to briefly talk about some things that have helped me to disguise the taste of my formula and betaine. I have tried every single type of formula there is and I find the one that works best for me is the HCU Express packets. I mix three of those with warm water at night and stick it in the fridge. The next morning, I mix in some Mio (water flavoring) which is strawberry-watermelon flavored and it tastes just like juice. With my betaine, I take seven scoops twice a day. I tend to mix it with ginger ale or anything fizzy to disguise the bitter taste and that has worked very well for me also! Parents, if your child is taking any pills and has a hard time swallowing them, my mom always mixed them in a spoon of applesauce or pudding. As a child, I never knew the difference. These are just a few suggestions that have worked great for me and might also work well for you!

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.

A group of people standing in front of a black bus.

Stay Connected:

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!

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