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…
Like most parents, I have had to pivot from our daily norm in recent months, and brainstorm ideas to keep my kids busy. Searching for new ways to keep them entertained and engaged is like my side hustle these days.…
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…
It struck me years ago during a meeting at Gus ’school. He was in kindergarten at the time, and already having some difficulties due to his weakening muscles. He struggled to hold a pencil correctly, to cut a straight line,…
The past two weeks in voluntary self-quarantine have given me far too much time to think about the irony of being disabled during a pandemic. On the one hand, living with a rare disease, Spinal Muscular Atrophy, places me in…
By now, most everyone has felt the impact of the coronavirus (COVID-19) outbreak in their lives. From the east coast to the west coast, virtually every state in the US has cases of the virus making this a challenging time…
Rare diseases unfairly rob those impacted of far too much. Oftentimes, families are caught completely off guard at a diagnosis that can be life-changing. One of the most difficult aspects to come to terms with as a either a caregiver…
For Rare Disease Day, February 29, 2020, Cure Rare Disease teamed up with young men impacted by Duchenne muscular dystrophy to transform them into superheroes. We’re here to remind them that no matter what, they are strong, they are brave,…
Sitting in the doctor’s office, trying to understand the immensity of what is being explained to you. All your hopes and dreams about the life your children are going to have and the realization that it’s not going to be…
I have always had an internal pressure to be *actually impressive*. Not inspiring, not motivational. Nope, I have always wanted to be realized for talents unrelated to my physical ability – for someone to say, “Wow, that’s actually impressive.” When…
When we see a family affected by disability, we usually notice the person who has a disability first. Many times in that family, there is a sibling of the one affected by disability. The thought of what a sibling goes…
Terry and his service dog, Mischief, who's always by his side to make him smile On Saturday, December 28th, my brother fell and broke both of his femurs. Broken bones are always unwelcome. But for our family, one who is…
To say I have been disappointed with people since my boys were diagnosed would be a huge understatement and I know there are many in the rare disease community that can agree. It boggles my mind how some people can…
During this season of joy, one of the starkest reminders of the emotional rollercoaster of Duchenne is clinical trials. So, you have two children with a rare genetic disorder. You start discussing the clinical trials that you have been hearing…
Kirsten, her husband Mark, and their son’s Devin and Caeden. My name is Kirsten Parisi and I am the mom to two amazing boys, Caeden and Devin, who are fighting Duchenne muscular dystrophy (DMD). Our family, including my husband Mark,…