Tell Us Your Story: Allison Galloway

By Allison Galloway

Somehow I made it through 37 years of life without ever meeting a blind person.

Then my 3-year-old son was diagnosed with a rare genetic disease called Leber congenital amaurosis (LCA) that will cause him to go blind in his teens or twenties. My world was set into a whirlwind of grief, confusion and anger.

How was it possible that two completely healthy parents who did everything the doctors told us to do before and during pregnancy, could have a child with such a traumatizing diagnosis?

As the weeks went on my grief turned to anger, my anger to guilt, my guilt to a desire to solve the problem to which there was no solution.

This disease caused my son’s body to lack the ability to create a simple enzyme called retinal dehydrogenase, which assists in the cleaning and health of the rods and cones in his eyes. It is an autosomal recessive gene defect that appears when each parent has a mutation on the same gene in the same place. There is a 25 percent chance that each child they create will have this disease. The odds were against us, I suppose.

A year and a half later, we learned the odds were even worse than we thought. Our son was 5 and our daughter was 3. One day at dinner I noticed my daughter’s eye started to bounce from side to side. I immediately knew what it meant. A nystagmus means that the eye is weak and sick. I didn’t need the gene results to know that not only did my son have LCA, but my beautiful little girl did too. A 6 percent chance …

LCA diagnosis is truly life changing

There are social repercussions to a diagnosis like this. I lost friends because they couldn’t cope with the thought of a child losing his sight. My son has had kids tell him he can’t do certain things because he is the “blind kid” (and he is only in kindergarten). People told me that what I was feeling about my kids’ diagnosis —that sense of loss or death of the life that you thought your child would have —was the wrong way to feel.

What fueled my determination to speak out for all those parents dealing with a similar heart-sinking diagnosis occurred at our eye doctor’s of all places. I walked into the office determined to figure out what was wrong with my son’s eyes. After an hour and a half, the doctor handed me my child’s diagnosis on a piece of paper. She told me to schedule a procedure under anesthesia for my son at Children’s Hospital with no explanation of why or what we were looking for and then told me to follow up in a year “if I wanted to.”

I Googled what was written on that paper. The first word I saw was “blind” and the second phrase that stood out was “no cure.” That was all I had. I am a nurse practitioner but I had very little knowledge of the eye. I knew then and there that I quickly had to learn all I could. The problem is that so many families get the same kind of “rare disease news” and have no idea what to do. They trust their doctors to be the knowledgeable ones. If a doctor says there is no cure, well then there is no cure, right? Nothing left to do but learn how to accept it, scared and alone.

You are not alone

I want to stand up for all those parents out there who don’t know where to go once they hear something hard about their child. I have met many families who have had similar diagnoses as my children and the doctors tell them that there is no cure yet, so there is no need to do anything but deal. This infuriates me.  The lack of assistance given to parents is astounding.  If I had not had the financial means, the education, and the network, I would have taken the advice of my first doctor and just followed up ” if I wanted to.”

As time has gone on I have met so many amazing parents, families, teachers, and researchers who are determined to cure many of these rare diseases. Social media has opened so many doors. I was lucky to find a group of 18 families whose children all have the same gene defect as mine, RDH12. Together we created a network of motivated parents who have formed a 501(c)(3) named RDH12.org to raise money. We work with scientists around the world to fund research. We support each other even if we live in the U.S., Italy, Australia or Saudi Arabia. We try to advocate the importance of all children diagnosed with a rare disease to get genetic testing. Without it we would have never known what our children had, let alone how to cure it.

Use the resources

There are amazing things out there like the website, Myretinatracker.org, which was created to generate a database of everyone with inherited retinal disease so scientists can easily access a population to use for clinical trials. Everyone should be on it if they have a genetic disorder.

Genetic testing is free in many instances and all it requires is a simple blood test. Spark Therapeutics has just started an ID YOUR IRD gene testing initiative for free to patients that aims to help inform as many people as possible of their specific gene test. Knowing the gene is a critical step towards getting treatment if it is available or toward helping advance the research that will lead to cures. It is for this reason that I am writing to you. There is so much that we can do if we have the knowledge to do so and we spread the word.

This rare disease is what comes between my children and the world. It limits them. Rare has flipped our world upside down and forever changed me. It keeps me searching for answers and fighting for all those families out there. We know our love is what keeps us going on the days that feel impossible. Love is what will keep us moving on the days when the news at appointments is less than positive. We never give up on our children, and we will never stop fighting for their well-being.  All we want is for our children to not have to fight so hard to simply be.

Allison Galloway lives in Westminster, Colorado, with her husband Michael and their two children, 6-year-old Logan and 4-year-old Zoe.