The Voices of Rare Disease

As a geneticist, I meet many families affected by rare and genetic conditions. Naturally, the discourse revolves around the pressing daily challenges: clinical, medical, medicine dosages, therapies, etc.

However, at the core of my work - the very heart of every such conversations - lay the hopes, fears, memories and the family tissue that vibrates through the highs and lows of living with chronic, sometimes life-threatening, conditions.

So today, instead of me doing the talking, I would like to dedicate this blog post to the people behind the foundation names and awareness days: patients and caregivers themselves. It is them with whom we share this complex journey - from walk-ins to diagnosis, treatments, hospitals, family life and everything in between...

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Kari Anderson, Phenylketonuria (PKU)

The day we found out that our first born daughter had PKU was one of the most emotional days of my life. I remember it like it was yesterday (even though it was almost 3 years ago now). A lactation consultant had just stopped over to make sure she had a good latch and she was so surprised at how much weight our daughter, Scarlette, had already gained from exclusively breastfeeding. As a first time mom, I felt like I was doing everything right! However, right after she left, I got a phone call from the hospital explaining that Scarlettes newborn screening results revealed she tested positive for PKU and that I needed to get her to the hospital as soon as possible. In that moment, my whole world came crashing down. I was confused, overwhelmed and so upset.

Even today, I still have days that feel overwhelming when my picky PKUer wont eat or when we go for bloodwork and she doesnt even flinch when the needle goes in because shes so used to getting it done. But I just remind myself that it could be worse, and that Im lucky to have Scarlette with or without PKU. It doesnt have to define who she is, its just a challenge that she has to face growing up that will make her an even stronger woman!

Advice to other parents of recently diagnosed children: Take it one day at a time! The PKU diet is a huge adjustment and essentially a lifestyle change - it will take time to adjust, but youll have adapted before you know it. Most importantly, live in the moment with your children!

Andrea De La Torre, PKU

Seven days after our second daughter, Amberly, was born, I received a call from Texas Childrens Hospital letting me know she had PKU and needed to get to the hospital ASAP. I remember laying on bed and holding her so tight, thinking she was dying and I only had hours left with her. I called my husband to come right away, and on the way to the hospital we started researching PKU, reading only the worst parts. When they took us to the hospital room, there were seven people all telling us something different about her diagnosis. Unfortunately, we were so lost and didn't understand anything they had to say, and cried for an hour while they said what they needed to communicate to us.

I was trying to pay attention and focus, but my heart could not get over the pain. The most painful news was that I could no longer breastfeed her and it tore me into pieces, questioning my own feelings as a mother. We left with so many questions and no hope to survive and continue with life. We kept it a secret from our family and friends for three months, until we attended a cooking class where we saw other PKU parents and kids and realized they were perfectly fine and healthy. We met an awesome family who have a 3-year-old daughter and they changed our lives.

Our lives changed when we then realized that having a support system can help us through anything. We started a Foundation called PKU Awareness and promise to never let anyone else feel alone and hopeless as they endure this new life. Life with a child with PKU may present new challenges, but having Amberly in our lives is the most precious gift.

Ginger Edwards, Muscular Dystrophy

I have two sons diagnosed with muscular dystrophy, ages five and two. One was diagnosed October 2015 and the other in April of this year, and both times it was very overwhelming (and still is some days). While I felt like my life was over in the beginning, I also began continuously researching, and quickly realized there was so much support in the community. Having a wealth of information was important for our family, but I also found a lot of outdated material online, which caused more anxiety.

Since my sons diagnoses, I've began focusing on today and not worrying so much about tomorrow. My advice to other parents or people living with muscular dystrophy would be to take things one day (or even one minute) at a time. No matter their diagnosis or situation, your child is still your child, and that love will get you through more than you can ever imagine. Also, have hope - there is so much of it on the horizon for our boys!

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So there you have it - the human spirit in its most crystallized form: fighting, hoping, looking forward and not letting disease define you. As a physician, I can add that this strength of spirit is such a productive way to go about your life and not let stress eat the healthy patches of everyday life. Not only that, but its a doctor-prescribed attitude that helps fight off depression and can lead to more favorable health outcomes. BE WELL!