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Rare Disease Day: Reflections From a "Zebra Mom"

By Amy Nadel

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Amy Nadel is the executive director of partnerships at Medscape. She is also the proud mother of two “zebra” young adults. Her 26-year-old daughter has glycogen storage disease type 1A (Von Gierke disease) and ankylosing spondylitis (a type of spinal arthritis) and other issues related to those diseases. Her 21-year-old son is a special-needs young adult.

Both children are living their lives to the fullest, more independently than was ever thought possible. She is so proud of them that she is almost without words.

If you’ve watched Grey’s Anatomy, Private Practice, House, Chicago Hope, ER or even St. Elsewhere, you have probably heard the phrase drilled into the heads of medical students that “when you hear hoofbeats, think HORSE, not zebra.” To a doctor, this means look for the obvious diagnosis, not the rare one. But sometimes it IS a zebra, not a horse. My daughter is a zebra, several times over, and that makes me a “zebra mom.”

When my daughter was diagnosed with a rare genetic condition, the prognosis was not good. I couldn’t believe what I was hearing: My baby had an incurable disease, and her life expectancy was only 5 to10 years. 

But here we are 26 years later. We have spent much time in the hospital over the years. We have learned to live with a zebra life, which in no way resembles the lives of families with “normal” children. Those of you who are in the zebra world know exactly what I mean: Nothing is what you would expect. Everything is a complication, a potential complication, or a crisis. The details differ from disease to disease, condition to condition, but one thing remains the same: There is no “normal” day for us. 

Picture of Rachel at 26

We are all working so hard to help our kids survive another day, week, month, year. Which means we have to find the best doctors, the best medical care, raise money for research, and try to network with the other parents who have kids with the same disease.

But then there is our real job: helping our children be “more than a disease” to themselves and to the outside world, and standing between the people who may say ignorant/cruel/uninformed things. (“Oh, really, she’s 8 years old? My 3-year-old looks older. Are you sure?”) Sometimes even a doctor at a hospital can forget there is a person attached to the disease. (“Hey, everyone come in and see this really BIG LIVER.”)

We have to try to shield them and, at the same time, empower them as much as we can to have as full a life experience as possible. This is where it gets REALLY weird for zebra parents.

We never thought we’d have to deal with our kids surviving long enough to grow up and take on the responsibilities of their complex conditions on their own.

Those of us who have loved ones with a rare disease feel we live in a very exciting time with new treatments, research, and novel approaches for genetic disorders. We see progress in rare diseases overall. But each disease has its own challenges and restrictions, so we are all very aware of the ticking clocks in our own lives.

Some of our children have survived well beyond the predicted “expiration date” we were given, which means that new health issues are likely to arise at any moment as our children get older. So this is the part where I talk about how lucky we are that they are living in this uncharted territory. But it is challenging for them and for us.

I’m now part of my child’s medical team by invitation only (her invitation). It is her time to take control and be the driver of her own care and treatment. Guess who’s having trouble with that? 

But no matter how upsetting and scary we find the never-ending onslaught of new medical problems that require yet another specialist/medication/procedure, the alternative is so much worse. We are so grateful to have her and watch her live her life as fully as possible, pulling that heavy wagon full of more and more rocks along with her. Frankly, that is “her normal.”

So here’s the reality: Rare-disease patients are not so rare anymore because people are living longer with their diseases.

Rare diseases touch all of our lives, and it is our collective responsibility to fight for more funding for research, to commit ourselves to patient registries, and above all, to encourage our children to live as normal lives as possible. That’s the job of the parent ultimately, and for parents like us it’s always a part of our lives because every day is a rare disease day.

More information:

The National Organization for Rare Disorders helps people with “orphan” diseases and assists the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.  This organization can help you get connected to the patient/parent organization for your disease.

Watch Priya Kishnani, MD, of Duke University Medical Center talk about children with rare diseases on Medscape.

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