Help Hope Live for Madalyn Shepherd
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Updates (3)
September 8, 2025
Madalyn’s Undiagnosed Diagnosis Journey Continues…We had the opportunity to travel to Bethesda, Maryland, to visit the National Institutes of Health (NIH). It was our first experience traveling via plane with Madalyn. Wow! What an experience, accessibility for those traveling via plane or car is definitely a challenging experience. Education is key. Have you ever thought about the challenges you might face if you became incontinent or unable to walk independently? TSA agents were all very pleasant and helpful. The only complaint I would have would be the lack of knowledge of processes/protocols for wheelchair users. They also need to be aware of facilities available for incontinent individuals. Changing individuals on a public bathroom floor isn’t only difficult for the caregiver, but also unsanitary and undignified. (https://pmc.ncbi.nlm.nih.gov/articles/PMC10309150/) Cedar Rapids airport was the worst, after asking three different agents the only suggestion they had was changing her on the bathroom floor. Regan Airport was a bit better as they suggested using the mothers room to have at least some privacy. Neither airport had an adult/universal changing table to accommodate incontinent needs.Madalyn was an absolute trooper, going with the flow. She wheeled herself all through the airports, allowed TSA to swab her wheelchair, complied to all requests, experienced the moving walkways, walked the jetway and enjoyed watching the planes take off. Her favorite part was when the plane went “boom” landed, she just laughed. She also enjoyed riding on the “bus” that transported us to the NIH Campus. Upon arriving at the NIH campus, more security screenings greeted us. It took us around 30 minutes to get through security (there were only 3 of us to get through). We stayed on campus at The Children’s Inn (similar to the Ronald McDonald house here in Iowa). We were hungry from traveling all day and ordered some take out seafood, it was marginal but it was FOOD! We spent most of Tuesday and Wednesday at the NIH facility. Madalyn displayed a wide range of her spicy self. She was observed by a team of scientists who asked a million and one questions. Many of the questions were easy to answer, but just as many questions were just as hard to answer. Matt and I gave it our best shot to come up with the best answers on the fly. Our hearts melted every time we mentioned something “different” about Madalyn and the scientists had already observed the difference. We aren’t crazy! Madalyn had an ECHO of her heart to get a baseline, a muscle ultrasound and gave seven vials of blood for genetic testing. Matt and I also donated some blood for testing.The nuts and bolts of what we currently know. There are 15 individuals between Canada, Germany and the United States that exhibit the same autosomal recessive gene SLC39A8. When we were at the Undiagnosed Network in 2018 the genetic testing resulted in only Elizabeth with that variant. They were not able to find a variant in Matt. In order to be classified into the same group of individuals, the scientists would need to find a copy for Matt. The NIH will be running another round of genetic testing to see if they can locate the variant in Matt.So, what does the SLC39A8 gene do? I am not a biologist so, I am going to give this my best shot. The cells in your body contain proteins and sugars that absorb many elements into your body. Early on Madalyn’s manganese levels were undetectable in the commercial testing world of medicine. Only research based labs were able to measure her levels. For a period of time Madalyn was prescribed a manganese supplement to try to get her levels up. This was unsuccessful. So, the hypothesis right now is that the proteins and sugars aren’t absorbing or transporting the manganese like they are supposed to.Now we wait to hear back from the genetic testing (4-6 weeks) to see what our next steps might be. That was a lot of information. We are more than happy/willing to share more, just ask. Education is key!As always, thank you for your continued prayers and words of encouragement.The Shepherd Family
January 20, 2025
Welcome 2025!Our family hopes this letter finds you well and full of hope for the new year! We’ve been reflecting lately on all that we are thankful for, and we felt compelled to express our gratitude to you. Sometimes, we get so caught up in the hustle of daily life that we forget to pause and truly appreciate the people, like you, who have made a lasting impact on our lives.We started a over a year ago brainstorming and researching what an accessible vehicle might look like. It was overwhelming because of the many vehicle configuration options available for Madalyn as well as the financial commitment. Purchasing any vehicle by itself is a daunting task let alone adding medical accessibility. Our task became easier in 2024 because of the financial generosity from family, friends, businesses, and strangers. The enormous task of continuing to keep ALL of our family on the road was taken care of by YOU! Having access to needed funding, we were able to narrow down vehicle options and coordinate three different vendors. The process kept Matt and I busy last fall. It’s not always easy to find people who uplift, encourage, and make a difference in your life, and yet, you’ve done all of that and more. Whether it’s through your thoughtful words, your actions, financial support, or just your presence, you’ve brought light into our lives in ways we’ll never fully be able to repay.Thank you for your generosity and kindness throughout this process. We carry that gratitude with us each day and will continue to do so.Help Hope Live’s assistance has been invaluable in this process. Madalyn’s Help Hope Live website will continue to be live as long as she has medical needs. With deepest appreciation,The Shepherd Familyhttps://drive.google.com/file/d/1a8PoDjk0BDgAsM_zcVIlg3zvkP8eVsyE/view?usp=share_link
Photo Galleries (2)
Guestbook
August 11, 2024
We love you Madalyn! Ryan, Allison, Malloy & Kellett
Allison & Ryan Murphy
August 2, 2024
Keep your faith.
Michael LUKEN
July 29, 2024
Sorry we were unable to make the fundraiser today.
Take Care
Todd and Kim
Todd Kim Whitters
