Welcome To My Hood adulthood, wifehood and motherhood
How it all started
In 2022 I started to notice my son would complain about his legs being tired on longer walks or hikes. I also noticed that the way he was walking was changing when he would start complaining about the pain or tiredness of his legs. I had mentioned it to his primary care provider, and she said he seemed fine because when we did his regular checkups, he never showed any of the symptoms. Then I decided to take a video of him walking.
We had been walking about 10 min and then he said he couldn't walk anymore, and his legs hurt. So, we turned back, and I got his different walk on video. I showed his primary care provider, she ordered and x-ray of his hips to see what was going on and this started a long journey down a road my husband and I never expected. The hip x-ray was slightly abnormal, they sent us to a specialist or sent us to another specialist.
The final specialist told us they were concerned he had Muscular Dystrophy. They did a blood test and told us not to google anything and to only go to the https://www.parentprojectmd.org/ website only until we got his results. The test came back positive and then we had to get additional testing done to confirm what form it was and what the next steps were going to be. His genetic testing came back positive for Duchenne Muscular Dystrophy which is the most severe type of muscular dystrophy.
This was another moment our lives were changed forever.
Duchenne muscular dystrophy is a rare, genetic condition that is characterized by progressive muscle damage and weakness. Sometimes shortened to DMD or Duchenne, this rare disease is caused by a genetic mutation that prevents the body from producing a protein called dystrophin. Dystrophin acts like a shock absorber when muscles contract. Without dystrophin, muscles become more and more damaged and weakened. They may also lose the ability to repair themselves after an injury. Over time, children with Duchenne will develop problems walking and breathing, and eventually, the heart and the muscles that help them breathe will stop working. Duchenne is an irreversible, progressive disease. While there have been many advancements in the management of Duchenne, there is no cure at present.
Now almost a year later he has about 6 different specialists on his care team now and the goal is to keep him as mobile as possible for the longest time possible. He currently has aquatic therapy once a week and checks in with the specialist as needed. He also started taking steroids to help prolong his mobility which has slowly changed my little boy. This I will have to say has been the hardest one to wrap my brain around because I will be watching my son slowing lose his mobility slowly over time and there is nothing, I can do about it.
Finding a Cure
Parent Project Muscular Dystrophy (PPMD) fights to end Duchenne. We accelerate research, raise our voices to impact policy, demand optimal care for every single family, and strive to ensure access to approved therapies.
OUR IMPACT
PPMD is proud to have played a vital role in every single victory against Duchenne since 1994 and our compassion, strength, and innovation continue to lead this community.
ADVANCES IN RESEARCH
Since 1994, PPMD has invested in every single therapeutic possibility for Duchenne. We take a cutting-edge approach to accelerate finding treatments that will end Duchenne for every single person impacted by the disease. PPMD has invested more than $50 million into Duchenne research. Our contributions over the years have led to advancements inspiring an additional $600 million investment in research from the federal government.
- We take a comprehensive view of the entire landscape to identify opportunities to accelerate the development of therapies and to ensure nothing is missed.
- We invest in innovative research to fight the disease, no matter the mutation, age, or stage of progression.
- We develop clinical trial methodologies and tools that address current roadblocks in Duchenne drug development. This includes innovative clinical trial designs that test multiple drugs, multiple arms, and multiple companies at the same time, enabling participation from infants to adults, minimizing exposure to placebo, and allowing success or failure answers more quickly.
- PPMD’s leadership in the Duchenne community created an inflection point, resulting in over 40 pharmaceutical companies now in the Duchenne space—companies who have invested approximately $8 billion in the fight to end Duchenne.
- Since 2016, five therapies have been approved in Duchenne with additional therapies approaching the regulatory finish line. PPMD plays a significant role in this process, convening thought leaders and community members to share their expertise and experiences with regulators and decision makers.
- We are the largest Duchenne-specific organization that focuses on high potential research opportunities that will impact every single person with Duchenne. We do not ask for payment. Our return on investment is simple: to End Duchenne.