Jessica from Michigan
The Early Years
I was diagnosed with a rare condition called Homocystinuria at the age of 4.5 years old. I don't remember much before I was diagnosed besides I loved chicken. As a child, I was devastated that my life was going to change forever. I soon realized that my life would consist of many doctor appointments and I would be missing a lot of school. I wanted to be normal and did not know how to.
I was sent to Pediatric Geneticist at University of Michigan. My diet changed almost immediately. I started taking a formula which had all the amino acids besides methionine. Also I have to eat a low protein diet. As a child, I didn't understand why I was different. Friends would often ask me, "do you want a candy bar?" Until about a few year ago, I would quickly respond to this question saying, "I'm allergic." I now explain that my body does not process protein effectively. We spent the first six years there. He announced that he was going back to school town and Baylor, Texas... he recommended a specialist out of rainbow babies Cleveland... for the next few years for the continued my care there... that was a challenging part because I started getting really sick from the formula I was on.
Michigan didn't have many choices for homocystinuria formulas.. The first formula I was on was called Hominex 2... I was on that formula until I was a junior in high school… I nutritionist at the time really wanted to me on the Vitaflo HCU coolers so I changed... The next eight years, approximately I spent on the coolers.... then my body develop some weird allergic reactions which leads me to the formula I'm on now, Med Johnson HCY2. It doesn't have the convenience of already being made. It's a formula that has to be made right when you're going to drink it.... they say you can make it 24 hours ahead of time but it won't get the best taste... it's smells like cake batter, boy did I wish but it tasted like it....
When I was about 12 years old, I finally met someone who lived in my state, and also has Homocystinuria. It was very hard to keep in touch because of the distance between us, but I finally realized I was not alone. Around that year, I started going to a PKU Camp in Ohio and realized there are other people who have metabolic disorders, and have to follow a low-protein diet. Throughout the years, between the summers, I often felt like no one understood me. I was constantly explaining myself and answering hundreds of questions. This was overwhelming as a teenager who didn't have a lot of communication with other HCU patients.
When I got to High School, living with Homocystinuria got even more difficult. I soon realized that I could not miss school or I would have to take final exams. I was scared I'd have to miss because of appointments, but lucky for me, a Homocystinuria specialist finally moved to Michigan. I soon realized that I was his only patient, and I did not like the doctor. For the next 4.5 years, I continued to see the doctor who was not very understanding. After High School, my dream was to go college. In the fall of 2009, I enrolled in Spring Arbor University.
The College Years
Right before my 21st birthday I switched doctors to Detroit Medical Center. I now have a doctor who is understanding, and a great listener. During these years, I had to face many challenges but I am proud to say that I have overcome a lot. My college years taught me that I am learning what it means to be healthy for a patient with a chronic illness. Some of my friends would think you have been dealing with this since you were 4.5 years old, and you're now 22 years old, you should know how to be healthy. I feel so often we get caught up in the motions of our crazy lives and forget to take care of ourselves because we would rather take care of others we love. Learning how to live with Homocystinuria can be difficult and challenging but rewarding as well.
Lesson Learned - I Have To Be The Educator
I feel like living with Homocystinuria is interesting. I feel as someone who has Homocystinuria, we are called to overcome and educate the world. Homocystinuria affects 1 in every 400,000 people in the United States. People often stereotype other individuals who have rare conditions because they feel so lonely and feel like they do not have anyone.
The Support Center Is Key!
Having Homocystinuria doesn't mean you can't live a normal life. It's the power of choosing to live a normal life. I was very lucky to have a great supportive family who encouraged me to live my life to the best of my ability. My best piece of advice is to get involved. Ever since I was a little girl, I was very active in sports and school activities. Here is a journey through some of the most influential people of my life who are my support system. The best piece of advice I can give you is that the most influential people in your life would care about every aspect of your life.
My Mom is truly one of a kind! She's been the most supportive women in my whole life. My dad is one who definitely showed me the ropes of living with a condition. He is my superhero! The things that he faced has showed me that I am capable of living in a normal life.
The Big Scare!
I would say the big scare came and my niece born on December 8, 2013. We didn't know if she would have HCU or not. Becoming an auntie is the best thing that is happened to me.. On March 29 of 2016, we welcomed my nephew in the world. We didn't know if he would have Hcu either.
A Hard Decision
My metabolic Team kept asking me to consider a liver transplant. I am not for this because there isn't a lot of research done on it. Plus if my niece or nephew's results were taking a back positive with HCU, I would not want them to feel alone... because even though I had family support, mutual friends that had it, social media nothing is like the welcoming of family support. Lilly is out of the clear. Joey's original newborn screening has come back negative. I don't think either one of them have it but just in case I want to be the Auntie that really understands what it means to go through life.