Rare Disease Blog

By Sara Aluffi Our family was born in a beach town and the majority of our lives have played out at the shore break. Today was much of the same, another weekend at The Hook, where my nine-year-old son was out…

Leading up to Rare Disease Day 2021, we highlighted people in our community who have overcome the challenges associated with a rare disease diagnosis and started a successful career. On the CRD blog, we shared stories from people from all…

“Do not expect much from him.”  These are the words a neurologist told my parents when I was diagnosed at four-years old with a rare neuromuscular disease.  The doctor did not intend them as malicious, but instead was arming my…

My name is Katie Kuhl and I am a junior in high school right now. I am mostly focused on school and am involved in the math team, DECA, pre-med club, student council, and volunteering at my local animal shelter…

I’m Vivek Gohil, I’m 30, and I live with Duchenne Muscular Dystrophy. My life goal is to leave a mark, make the most of life, and help others along the way. Although it’s daunting, I never worry about the future.…

In 2020, we were thrilled to spread awareness for our cause in a variety of mediums and publications, including an appearance on the TODAY Show. We also had the opportunity to amplify the voices of rare disease parents and families…

Meet Megan DeJarnett: a children’s book author, the CEO and founder of No Such Thing Co., and a mother of two. On January 7th, she (virtually) sat down with us at CRD and shared her journey navigating her present career…

A Look Back at 2020, and Happy New Year!  Although 2020 posed many challenges, we had many exciting moments. We are grateful to our community and supporters: you are the ones who made this progress possible.  A Positive Mouse Study …

Hi, my name is Linda, and my son Terry has Duchenne muscular dystrophy. When we found out Terry had this disease, our world just dropped from underneath us. That fear was always in the pit of your stomach, you dreaded…

The holidays can be a difficult time for families affected by terminal rare diseases. Families with a child in all stages of a diagnosis may each be feeling something different. We reached out to our community for their thoughts on…

1. Tell us a little bit about yourself I am 25 years old and live in upstate New York. I went to school at Cornell University where I studied Information Science. After graduating in 2017, I got a job as…

Hi, my name is Gems Godfrey. Firstly I am a Mother of two teens Harry 19 & Amber 17, & a soon to be Wife to my partner Steve. I am 37 & a self-portrait artist & photographer. My primary…

My wife and I reside in Tea South Dakota, just outside of Sioux Falls, with our 2 boys, Sawyer (9) and Wesley (6).  Both of our boys were recently diagnosed with Duchenne and they both carry an exon duplication of…

Written by Carole Sharp “He’s going to be a pro football player.”  “He’ll grow into his calves.”  “He is perfectly healthy, it’s just growing pains, don’t worry.”   For six years this is what the various doctor’s we brought Ian to…

I practiced medicine for over 3 decades, caring for adults, mostly seniors. I have guided patients and families through difficult times and provided a great deal of end of life care. None of that prepared me for coping with the…

It feels like video games have been part of my life since the start.  When I was six years old, I distinctly remember going over to one of my cousin’s homes, where he showed me the cutting edge technology of…

Will took my breath away from the second I saw him. “He has dimples!” I shrieked at the video of Will, just a few hours old. I don’t know if I’ve ever been so delighted. When I met Will in…

Wait and see. I’m not sure. Nothing we can do. Just wait a few years. It can be different by patient. We really don’t know what will happen to you. The science just isn’t there yet but maybe someday. In…

A diagnosis like Duchenne can force you to do things you may never thought you’d be doing. Good things, and difficult things. A diagnosis changes you. It influences the decisions you make, and often can require a bit more of…

As difficult as it was to get the news that Fritz was not going to be amenable to the current gene therapy trials, I ultimately had some degree of peace, because I had knowledge. Knowing what we know about Fritz’s…

Our family still loves to travel even though traveling with motorized wheelchairs, travel shower chairs & hoyer lifts can be challenging when you fly.  It’s even more challenging when you go outside of the US. Whatever challenges we’ve faced I…

We asked Duchenne families about what it’s been like receiving Clinical Care during the COVID-19 pandemic. Hear from Rich Horgan, Steve Gunther, Terry Marlin, and Naomi Hoyle talk more about their experiences.  Support CRD's Mission Steve Gunther Drew has an…

JB with his friend Jack at the UMASS clinic with Dr. Brenda Wong  My son JB was diagnosed with Duchenne Muscular Dystrophy (DMD)  in January of 2009 at 17 months old. I was given the diagnosis by a neurologist at…

It was almost a year to this day when we received Ned’s diagnosis. It was a heartbreaking, heart wrenching sucker punch that we could never have imagined.  To say the least, there was a tectonic shift that day and my…

One of the worst days as a parent to a son with Duchenne looms over us as it is just a few short weeks away.  You see, we have two boys Jonah, 16 and Emory, 13 both with Duchenne muscular…

My “quick tips”  for navigating Duchenne: Find Mentors Search for someone in your own network…sometimes rare disease isn’t as rare as you think and you never know about someone who knows someone. Use social media You don’t need a large…

2020 is almost halfway over and what a year it has been so far. Changing jobs, starting a business, dealing with the Covid nightmare, Wishes for Drew becoming a 501(c)(3), and now selling our home! There are plenty of enjoyable…

Shop Here 43,502 ish days of quarantine has really provided me with a lot of time to think. One idea I’ve been giving thought to is what COVID has and has not changed in my life.  For instance, COVID hasn’t…

Keryn Woodman being awarded her fellowship by Founder and President Rich Horgan at the annual Cure Rare Disease gala, October 24, 2019. “They give them steroids and send them home.” These words were what made me decide to do my PhD…

For the past 13 years, I have been living with Duchenne. It causes my muscles to waste away over time, so I use a power wheelchair, and I have very weak physical strength. I am entirely dependent on those around…

The day we received Fritz’s diagnosis, we immediately felt as if the tectonic plates below us began to shake. All of a sudden, we no longer felt like we were navigating life on a smooth, flat surface. The ground beneath…

May 19th marks my 25th birthday. As someone impacted by a rare disease, I want to share my perspective to help people understand life beyond the disease. I was diagnosed with Duchenne muscular dystrophy (DMD) at three years old. Growing…