Gabbi from Massachusetts
Hi, my name is Gabbi, and I was the first baby diagnosed with HCU by amniocentesis. Benjamin, my older brother, who also has homocystinuria was diagnosed through newborn screening. My sister, Chloe, on the other hand, is fortunate to not have the genetic condition. Knowing that I had HCU before I was born was helpful because I was able to drink the specialized formula as soon as I was born, for that I am truly lucky. Although, just because I’ve been on formula and a restricted diet my whole life doesn’t mean I haven’t had my fair share of complications. At age 8, I was diagnosed with scoliosis. I was put into a tight, restrictive brace just hoping it would work enough to avoid surgery. For six years I was seeing an orthopedic doctor at Tufts Floating Hospital. It wasn't easy wearing the brace, and I ended up with a total of 5 different ones in that 6-year period. In June of 2016 my doctor gave me the news that I needed to have spinal fusion surgery to correct 3 intense curves. For a person with just scoliosis, the surgery would be tough, but not life threatening. For an HCU patient, surgery can be dangerous. Instead of giving up, my parents and I sprung to action. We transferred to Boston Children's Hospital to be with my metabolic team and saw an orthopedic surgeon in the next following weeks. I ended up having surgery just a couple months later on August 4, 2016. Because of the potential complications of having surgery, I went in the night before for extra fluids to help diminish the risk that HCU poses. I never would have expected that week to go how it did. It consisted of 7 days in the ICU and definitely didn’t go smoothly. The months following were filled with pain and healing. Six months passed and the pain just never went away. One year passed and the pain was worse. I would always go back to my surgeon and tell him that I was still in pain and I’d always get the same response about my X-rays being normal. I knew something was very wrong, but I felt the doctors weren’t truly listening.
I was becoming discouraged, and I just never felt myself anymore. This is when I decided to find an outlet. That happened to be photography. I never realized how helpful photo imagery would be through this trying time in my life. I entered The Rare Artist Contest in 2017. My entry was entitled, "The light in the dark." It reflected how one might be challenged to see the positivity in life and the need for one to grasp for and hold onto their light. As much as I had withstood intense pain throughout the past couple years, I never permitted my physical issues to impede my spirit. I remained hopeful despite my circumstances. My goal in entering the contest was to inspire others with rare disorders. Little did I know that my entry would win. I was invited to Washington D.C. to speak on Capitol Hill in front of hundreds of people about living with a rare disorder and my love for photography.
Winning the Rare Artist Contest was an incredible honor. Sharing my story in front of members of Congress and influential individuals, along with others with rare disorders, was empowering. It provided me with a platform for exposing rare diseases and the complications endured to those who may have had little knowledge of Homocystinuria.
After D.C. I decided to advocate for myself and find out the cause of my pain. More recently I have switched surgeons, got a CAT scan, an MRI, and many more x-rays. Truly what is going on could be a variety of complications resulting from my surgery and not just one clear answer on how to fix them. We have gone ahead and scheduled a surgery date in December of 2019 to completely redo my fusion. I hope in the time between now and then the doctors figure out what’s going on and that surgery isn’t the answer, but there's no promises. Although I know I can get through another surgery, the potential for infection worries me the most.
I have gone through a lot in life and it has been hard, however it has never stopped me. I’m going into my senior year and applying to fantastic colleges. I have taken the SATs 2 times now and have gotten great scores. I am taking 2 AP classes and 3 honors classes this upcoming year. I’m the President of Peer Leaders, I’m in the English Honors Society, and I work as a teacher aid. HCU has never stopped me academically. In fact, I have excelled in all my classes. My pain, while disruptive, has never stopped me either. I see it more as a piece of me. Being in hospitals a lot I have learned I want to work with children. Continuing on with that I want to be an elementary school teacher and inspire kids to realize that they can achieve anything. I want young children to know that there is nothing they cannot do and to always think outside the box, dream big, and to treat others with kindness because you never know what they’re are going through.
When I was asked to write this, I knew I didn’t want to just tell my story. I wanted to show parents with young children that HCU will never stop them. Yes, it is a challenge, but it will only limit them if they let it.
Lastly, to my brother Ben, you truly are my role model. You are successful and a pioneer for the HCU community. I love you so much and remember, take your medicine :). To my sister, Chloe, you are my best friend. You’ve taught me to think positively and to never let anything stop me. To my parents, thank you not only for being the supportive loving parents you are, but for dealing with my teenage attitude. Finally, to whoever is reading this, whether you are a parent, sibling, friend or family member of a child with HCU, being rare is beautiful, never forget that.