Daniel DeFabio - Rare Disease Parent

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Related to Menkes Disease

To Parents Who Feel Overwhelmed by the Care for Their Newly Diagnosed Child

After the shock doesn’t wear off but lowers to a duller throb. After the tears slow a bit. After a nurse tries to educate you on medical techniques you feel in no way qualified to perform. After you’re alone with your child again. Around that time, you’ll begin to think there’s no way you can [...]
young boy smiling

When the Last Best Hope in Your Rare Disease Journey Lets You Down

Last week I was at the Global Genes conference for advocates of rare diseases. Hope was not only a theme or a tagline there, it percolated through even the most dire discussions of the roads ahead. For many facing a rare diagnosis, the road to hope (of treatment or a cure) goes a bit like [...]

The Film I Almost Couldn’t Make About My Son’s Disease

My son, Lucas, has Menkes disease. Never heard of it? Not many have. We didn’t until his diagnosis came. Lucas’ diagnosis came too late. If Menkes is detected in the first 10 days of life and treated, you can live a pretty normal, long life. If not, you get a much shorter life that’s far from [...]

A Panera Bread Employee's Simple Remark Turned Our Dark Day Around

This is the story of how someone we didn’t know turned one of our toughest times into one of our best days. When you have a child with Menkes disease, you spend more time than you’d like in the hospital. At its best it’s stressful; at its worst, I’m ready to bark at people for [...]