Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest.    Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…

There is no doubt that the new medicine Hemlibra (emicizumab) is a game changer in the treatment of hemophilia. Instead of multiple infusions daily, one injection could last two weeks to a month. Such incredible new ways of approaching treatment and care introduce different concerns and result in…

After over a year without a gym membership, my wife, Cza, and I are back in our lifting den. We do it for fun and, of course, fitness. I’ve had several injuries during the past few months, all of which I can associate with the lack of physical exercise…

Caregiving is hard work. When your child is chronically ill, caregiving goes beyond the expected parental duties. You have overwhelming responsibilities. There are doctor’s appointments, infusions, and treatments at home. There are hospital stays, lab work, and missed school days. Keeping up with your child’s medical condition can…

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

For many years we tried to overcome my younger son’s reaction to factor VIII. No matter which medical product we tried, we ended up with the same results. He would break out in hives early in the infusion. We learned that my son had developed an allergy to factor VIII,…

Over the past few months, my son Caeleb has complained of knee pain. “It’s not buzzy or achy, Mom,” he would say. “It just really hurts.” After his annual visit to a hemophilia treatment center this summer, his doctor recommended an MRI of Caeleb’s knee and ankle. Because…

I am a work-from-home mom, which means that I have two full-time positions as a “mom” and a “worker.” I am also a full-time carer to my husband with hemophilia. Thankfully, that position affords me several “leave credits” as my husband is not always injured. (Hopefully, the investment we’ve made…

I was with my son in a store recently when a coloring book for adults caught my eye. Ordinarily, I wouldn’t have given it a second glance. But what made this one special was the title on its cover: “The Road Not Taken.” I couldn’t resist opening the book.

It’s easy to look back and think about what one could have done differently. Handling a crisis with grace rather than anger, calling the doctor immediately instead of waiting, or keeping a diagnosis secret to avoid others’ judgment. We all make mistakes and, hopefully, we learn from them. Forgetting…