rare diseases

Participating in clinical trials makes me feel extremely hopeful. Any study promises a chance of therapeutic benefit, but to me, none of these drugs work until proven, so therapeutic benefit is not my expectation.
Five years later, my daughter's challenges are still mysterious. But they are familiar, and far, far less terrifying. This Mother's Day my mother, Esmé and I may be able to sit in the sunshine and admire the gardens as they burst into life.
Brayden and his family have learned to deal with the constant staring and comments from strangers. Typical remarks include: "Wow, you're really sunburned," or "Did your legs get burned in a fire?"
A baby is born with ALD every 36 hours in America. The tragedy is most parents won't know it. Currently, newborn screening is a state-by-state matter. In 2013, New York became the first state in the US to test all newborns for ALD.
I wonder if all of the hype and idolizing of him obscured the fact to his associates that at end of the day each and every one of us have this in common; we all suffer.
. The discussion was difficult; by the end of the session, all of us were in tears. However, at no time during that visit were the names Julius Hallervorden and Hugo Spatz mentioned. Having read about them, I've erased the eponym bearing their names from my database.
Current estimates indicate that there are more than 7,000 distinct rare diseases, and that this number increases by about
Having a child with a terminal illness and knowing their days are numbered will make you wish time would stand still.
Work is not our identity; we are so much more. The personal qualities we brought to our jobs are what continue to make us whole and worthwhile. Put work aside for now and take a look inside yourself. You'll discover you never stopped being valuable.
He runs like he knows it's a gift to be treasured, his little face all flush, breathing hard he grabs at my hand until I take it, his chubby fingers pulling me to one side.
A collection of totally different people were all put into a room together. At some point, we look at this crappy hand we've been dealt and focus on turning it into something.
"I don't see a way to save him." The doctor's words rang in my ears. The fluorescent lights of the doctor's office, flashed and faded in front of me, like the candles I was expected to blow out that evening on my birthday cake. This was no ordinary birthday.
I've been a medical oncologist for 10 years. Every day I think about my patients and the relationships I've developed with them and their families. Caring for people with cancer is rewarding, inspiring, and profound, but it is not without heartbreak.
And the combination of these mutations makes Esmé truly one of a kind. These blurs are the contrails of her stereotypies
The doctor had just left the room. He did excuse himself ... but I had no idea why he left the room. We sat there. The silence still ringing in our ears.
What would an ideal conversation look like if your child never mentions rare diseases to you?
Just a few weeks ago the drug received breakthrough status from the FDA, which means that the FDA will provide senior administrative
My family did not have other families to talk with, or survivors to hear from. I couldn't explain the pains I was feeling to anyone who understood what I was talking about. At the time, there was only one doctor we found to consult with, and he had very limited knowledge on the subject.