CureDuchenne Champions Archives - CureDuchenne

Aluffi Family

Greg — Thu, 27 May 2021 18:42:36 +0000

Joaquin was diagnosed with Duchenne Muscular Dystrophy in early 2019. While this diagnosis was completely devastating it also answered so many questions that we had been struggling with for years. Almost like all the puzzle pieces had finally fit into place. Since being diagnosed we have made it our mission to squeeze everything good we can into each day. Life quality is big over here and we plan to live it to its fullest in whatever capacity we are allowed. We spend most of our time outdoors in California since we have year-round beautiful weather. Most often you can find us at the beach or on long bike rides. We enjoy going for drives up the California coast. Joaquin is a lover of all things sports and animals and so we constantly look for adaptive ways to participate in whatever we can. Research into clinic trials and new treatments is a way of life now, one we never saw coming but it has become second nature. Advocacy from small to big things is also a way of life and we have found a strange sense of power while fighting for all the things Joaquin deserves. You will never find us backing down from a challenge.

Finding love, acceptance and unwavering support through the Duchenne community has been one of the biggest gifts of our lives. And we plan to give it as much as we receive it.

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Aviles Family

Greg — Thu, 27 May 2021 19:26:04 +0000

Gabe was a surprise pregnancy! I was 39 and already had three kids when I gave birth to him, and when I was pregnant, all tests came back indicating that he had Downs syndrome, presumably due to my age. We were heartbroken, but studied up and were ready for our little Downs baby. When he was born seemingly healthy, we were elated! Our happiness didn’t last long, however. Gabe quickly began missing all of the milestones. He wasn’t making eye contact. He wasn’t laughing or cooing. He didn’t sit up until he was 10 months old, didn’t crawl until he was a year and a half, and didn’t walk until he was two. He was 100% deaf and didn’t talk, and we were told to enroll our family in sign language classes. When Gabe was still a baby, I told the pediatrician something was wrong with him. He sent Gabe to a local neurologist for testing. The neurologist interviewed us and concluded that Gabe was merely spoiled… that we did everything for him and so he had learned to be lazy. I told him that wasn’t it; I had four kids and a job and didn’t have time to spoil anyone. He insisted he was right. As we packed up to leave his office, in my mind I knew that on the car ride home, I would find another neurologist. Right as we were leaving, he peeked back in and said, “before you leave, let’s take some blood just in case.” I said, “Just in case of what?” He answered, “just in case.” A few days later, he called me while I was driving and told me that Gabe’s CPK levels were at 22,000. I asked him what that meant, and he said, “I will be shocked if he doesn’t have muscular dystrophy. Give him a good life, because it will be a short one. I’m so sorry.” and he hung up. I pulled into a parking lot, and, hands trembling, googled muscular dystrophy. I called my husband sobbing and he came home from work. Genetic testing confirmed the diagnosis, and we found out he was missing exon 68 and part of 69. We learned that these were rare and high exons to be missing. We found a new local neurologist who basically told us the same thing. There was nothing we could do, he won’t live to be an adult. I wasn’t OK with just sitting back to watch my baby die. (At this point he had just turned one a couple of weeks earlier.) I googled “best doctor for Duchenne Muscular Dystrophy” and Brenda Wong’s name kept coming up time and time again. I called her office and they told me that she wasn’t taking new patients, but I could go on a waiting list, so I did. However, through an internet investigation, I found out that she was going to be one of the speakers at a PPMD conference in Orlando, an hour from us. My husband and I registered and went and I stalked her. I begged her to take Gabe on as a patient. I told her he was still a baby. I told her there were no good local neurologists. She invited us to have lunch with her. At lunch, we told her our story, and she agreed to add Gabe as a new patient. She told me we would probably have to wait several months to see her in Cincinnati, but we were willing to wait. Two weeks later, Dr. Wong herself called me at work and said she had just had a cancellation, and could we be there in two weeks. Absolutely, we could.

Eventually, I got involved in the political side of this disease, as Florida is one of the worst states to live in if you have Duchenne. I met with several politicians and went to Tallahassee a couple of times to speak before congress. Together with some of the nicest congressmen I have ever met, we wrote “Gabe’s Bill” that would allow Duchenne patients in Florida to qualify for a medicaid waiver. It passed through the first round, but was killed in budgeting. Gabe’s disease was quickly becoming very expensive. He also was in desperate need tor ABA therapy for autism, but without Medicaid it would be $5,000 a month, and we just don’t have that. Through some Facebook groups, I found out about a CureDuchenne conference in Newton, Mass. I really felt like I should go. I had been to a couple of PPMD conferences but didn’t feel very connected to anyone, and felt like my only value to them was if I raised lots of money for them. I longed to connect with other Duchenne families with no strings attached. (I had a job as a very visual staff member at a large church where people saw me on the stage every week. I felt like my position made fundraising sketchy; I didn’t want to compete with the church, who was building a facility and raising funds of their own at the time.) I flew up and absolutely knew I had found my tribe. Everyone from the CureDuchenne team was so nice and so interested in helping us. Dr. Wong was there and Facetimed Gabe, who was elated! The event was packed with information. I was especially amazed at the amount of knowledge Mike Ke;lly had. After he spoke, I saw him in the hotel lobby and told him how much I enjoyed his talk. He asked about Gabe and I told him a little about him. The next evening, I saw him at the hotel bar and he called me over. He said, “I’ve been thinking about your son. You need to keep your eye on a clinical trial for microdystrophin. That will be his best shot at getting help.” I couldn’t believe that he even gave Gabe a second thought. Likewise, Doug Levine had a couple of meals with me and gave me valuable information regarding PT. This was his lunch break, but he was still sitting among families and talking.. unbelievable! But I learned that this is the CureDuchenne DNA. The more I get to know the CureDuchenne team through events and meetings, the more evident it is to me that this is who they are. Showing families that they matter. Their stories matter. The siblings matter. We aren’t just potential donors or fundraisers. We are families who are trying to navigate this messy, sticky journey called Duchenne. No two journeys are the same, yet CureDuchenne manages to meet the needs of everyone. I could not be more grateful. The rest of our story id still being written. We have moved from Florida to New Hampshire in order to be able to keep seeing Dr. Wong during the pandemic, as well as in hopes of Gabe getting into the microdystrophin trial that Mike Kelly told me about in the hotel bar years ago. Through CureDuchenne, we have found what every Duchenne family is longing for… HOPE.

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Cazin Family

Greg — Fri, 28 May 2021 17:09:20 +0000

We have two sons and a daughter and no family history of Duchenne. In April of 2018, we took our kids to the pediatrician for a well check. We mentioned that stairs seemed to be difficult for our oldest son (8 at the time) and the way he got up from the floor (gowers sign) worried the doctor and we were sent for testing from a Neurologist. A week later we got the call that our both of our sons had Muscular Dystrophy. Weeks later the genetic test confirmed they had Duchenne. (Deletion of 46-51) It’s been a very difficult journey and so much has changed since that day. We moved to a one story, renovated our home, bought a giant mobility van that we call the Quinjet (our boys like Avengers) and as of October 2020 our 10 year old is no longer able to walk. I started writing for the Duchennexchange to share our story and hopefully help others on the same journey. I later found out that I am a carrier as well. It’s been a tough road, but it’s also amplified the beautiful moments and given us a perspective that I wouldn’t want to give back.

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Edwards Family

Greg — Fri, 28 May 2021 17:17:55 +0000

We are the Edwards Family in North Dakota. Our 11 year old son Grant has Duchenne. Diagnosed at age 4. Grant’s younger brother Christian age 8 is unaffected. I carry DMD and Grant & I both have duplication of 12-13. DMD is so horrible and has affected our family and friends tremendously. Many of us had never heard of it. Needless to say we were and will all be heartbroken forever. We stay positive and try to keep a smile on our boys faces with doing things they love outdoors like hunting, fishing and camping. We raise funds for research by doing local run walk events and even the Highway Patrol not shaving for the month of November to get breakthrough research and hopefully a cure asap. We have lots of hope in science and Cure Duchenne!!

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Foster Family

Greg — Fri, 28 May 2021 17:23:14 +0000

Our son was diagnosed April 1, 2019. We have spent the past 2 years doing research, completing a clinical trial and being an advocate for our son and Duchenne Muscular Dystrophy. In 2020, we started NBF Cure44, a business focusing on spreading awareness about Duchenne and donating a portion of profits to CureDuchenne for research into a cure.

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Heaton Family

Greg — Fri, 28 May 2021 17:29:01 +0000

Our son Grant is six years old and was diagnosed with Duchenne Muscular Dystrophy at age three. Duchenne is a genetic disease that destroys muscle, all of them. We are dealing with this disease as best we can and doing what we can to keep Grant ambulatory for as long as possible. To this end we do physical therapy, swimming, horseback riding, daily stretches and exercises at home, along with doctor appointments. A lot of things change once you receive a diagnosis of Duchenne and our lives are different from what we thought they would be, but as parents our jobs are the same, to help build decent people and make sure our kids have the best lives possible.

Duchenne is tough, but the love in our family is strong and we will do whatever it takes to deal with it and overcome whatever comes next.

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Miner Moebel Family

Greg — Fri, 28 May 2021 17:36:37 +0000

I am Shepherd’s grandma. Shep was diagnosed w DMD August 2019. Our family responded, likely exactly the way every family responds – an emphatic “No”, followed closely by a less emphatic, breathless, “what?”.

Shep is 7 years old. He is the cutest little freckled, dimpled boy that ever there was. He is #3 in a line of 4 fabulous kids that my daughter managed to have 🙂

It has been a very trying time, specifically watching my daughter ache over her son – like one of those fun house mirrors that makes infinity appear before you – the pain and sorrow, and even still, shock, seems endlessly looming, and it’s my daughter and my grandson over and over and over and over.

My job, as I see it, is to carry the hope for my beautiful daughter and her precious family, but also for other mommas and babies who have said, and will say, “no. what?”

CureDuchenne will get my money and my time and my effort right up until the battle is won.

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Monday Family

Greg — Fri, 28 May 2021 17:42:23 +0000

We are blessed that our son Momo joined our family through adoption. It was a long road to bring him home that led us to understanding that God’s plans are much more than we can ever imagine. Throughout our 4 year adoption journey to bring Momo home, there was another little boy waiting for a family that we followed named Logan. He was at Momo’s orphanage, so we took his photo along with us when meeting Momo to see if he was still in need of a family, not knowing anything about his status or special needs. The orphanage was large, with over 750 children, so we didn’t expect much in the way of gathering any information while we were there. When it was time to meet Momo, we walked into his preschool classroom where there were two teachers and about 10 children. We spent a couple minutes in the classroom meeting and talking with him, when to our surprise they walked one of the boys in his class over to us. We instantly recognized him. Logan, who unbeknown to us, was not only in the same classroom with Momo, but they were best friends! We were immediately drawn to Logan, and began planning while in China to bring him home once we were settled in at home with Momo. Momo was diagnosed with a non-progressive myopathy, but we did gather some information on Logan’s diagnosis – Duchenne. At that time, we had no idea what Duchenne was, but it didn’t matter to us. What we knew was that he was in an orphanage with no family to love and care for him, we had met him, held his hand and he had hugged, kissed, and clung to our son like his life depended on it before we left that preschool room. Our hearts were shattered for this precious boy. Once home, we did a basic search so we would be prepared to give Logan the best possible care once home. What we didn’t expect was that this research would lead us to discover that Momo displayed all the signs of Duchenne. We took him into the doctor and she noticed the signs as well and ordered the ck and genetic testing. We then waited a couple months for the genetic results to confirm. During this wait, we learned that Logan had been matched with another family. It was heartbreaking, yet exciting, to get this information. We didn’t understand it at the time, and really struggled as to why this was happening. As we were processing the loss of being able to bring Logan home, we received the diagnosis of Duchenne for Momo. We were devastated, as this was not the life we had envisioned for him. We had accepted it for Logan, but were not prepared for it with Momo. We took time to grieve this information, and prayed for understanding. What we know now is that God used Logan in our lives to prepare our hearts for Momo’s diagnosis. After our initial grieving, the doors were opened through a Cure Duchenne event we attended for Momo to participate in a clinical trial. This trial had us travel across the country, a complete blessing, as it led us right to the town where Logan now lives with his family! The boys were able to stay connected and visit for over 4 years at almost every clinical trial visit! Seeing them reconnect in their homes with supportive family surrounding them was the biggest blessing! They have a bond and connection with not only their interwoven story, but the battle of Duchenne that they will face together – now with the love and support of a family surrounding each of them!

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Munoz Family

Greg — Fri, 28 May 2021 17:47:11 +0000

In 2013, our oldest son, Joshua, was diagnosed with Duchenne muscular dystrophy. He was 5 years old at the time and we were devastated with the diagnosis. After doing some research, we found that this disease is the most common form of muscular dystrophy and also the most aggressive. Boys are usually diagnosed around 5 years of age, lose the ability to walk by their mid-teens and most boys with Duchenne don’t survive past their mid-20’s. It was hard to comprehend why our loving, caring and big-hearted son would be thrust onto this fatal path. It was a very difficult time for us as we dealt with accepting that our son would not be like other children. He wouldn’t be able to jump, run, skip or play tag. But most of all, we feared he would lose his life to this disease. As we went through emotional swings on how to move forward with the diagnosis, we quickly realized that we had to do something to try and change the course of this disease. While we do not have the background in medicine or science, we knew that there were other avenues for us to make a difference for Joshua and all those battling Duchenne. With our faith and the support of our family and friends, we set out on a new journey. We dedicated ourselves to learning more about the Duchenne community and the progress that had already been made. In our search, we found CureDuchenne, a national nonprofit that has been leading the effort in finding a cure for Duchenne. CureDuchenne has been working on accelerating potential life-saving therapies for those with Duchenne for more than 16 years. Today, we are focused on funding research, advocacy and the development of therapies to increase accessibility for all those affected by Duchenne. We are committed to doing all we can to change the life trajectory of this generation of boys and young men.

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Nilson Family

Greg — Tue, 01 Jun 2021 18:58:03 +0000

Our youngest son, Henry, was diagnosed with Duchenne in August 2011 – shortly before his 3rd birthday. It was a fluke test that shocked even the doctors as it was not an obvious diagnosis. We had no family history, and Luci was not a carrier. Upon genetic testing, we learned that Henry has a deletion of Exon 51. After our first year of learning to deal with the overwhelming diagnosis and ‘drinking from the hose, ‘we were happy to find Cure Duchenne for hope & support, as well as transferring Henry’s care to the Center for Duchenne at UCLA. We finally felt we were surrounded with like-minded people who – like us – were not going to let this diagnosis define their family and were never going to give up hope for a better future.

Now, almost 10 years into our journey, Henry is a happy, determined fighter who loves Legos, Art and anything Disney. Our older son, Jake, is a strong sibling advocate and devoted to his little brother. As parents, we strive to balance the medical & emotional needs for both Henry & Jake with ensuring that we make the most of each and every day. Duchenne does not define our family, but it has given us the opportunity to redefine what is truly important to us as a family and cherish our time together. We chose HOPE!

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