Seasons Change, and I Have Hope!
By Beth Utz
Seasons change. We begin a journey. As the evidence is seen through the peaking colors and fall foliage, and pumpkins and squash are harvested, seasons change! This year is no different in the way of seasonal change, but has been described as “unprecedented,” as our nation continues to face a pandemic. Globally, we battle things we didn’t think possible, and I believe it is the resilient nature of families faced with rare diseases, that allow us to reflect on where we’ve been, and continue to look forward; as we have a number of reasons to give thanks to the Marfan and Loeys-Dietz Syndrome Foundation Boards, members, and friends this fall!
Seasons change. We remember a journey. I look back, excitedly holding my newborn baby, juxtaposed with the feeling that something isn’t right. Mothers know when things aren’t quite right. And. I. Knew. What I did not know, was that this new journey would take me on a completely different path than I ever imagined, and teach me lessons far greater than any book I would read. This journey would introduce me to people I would not have encountered otherwise, and learn words that would soon become household names. This journey would force me to be stronger than I ever thought possible and say things like, “I don’t want other parents to go through this alone” and “we need more education, awareness and research for this,” and “there must be other people facing these same obstacles. Where are those people? I know they are out there and I’m going to find them!” This journey would and continues to, give me hope.
Seasons change. Journeys aren’t always easy. 2005 was a hard year. My baby, now five, had various complications, each one with what seemed to be a fix, until a heart murmur was detected, leading us down a rabbit hole of events. Hernia repair, hernia repair failure, hernia repair again, OT, PT, speech, and unknowing to us at the time, valve-sparing aortic root replacement, and a lifetime of scans and worries. Why wasn’t he hitting milestones like his older sibling? Why were all these things happening to him? I felt like I was the only one going through this with their child. I felt alone. Then, we got a call from the genetic counselor that our son had the gene change for Loeys-Dietz syndrome. I describe it still as “bittersweet.” We wanted so badly to know what was causing all of the various problems, and yet, we feared the truth equally. I quickly embraced the idea that knowledge is not only critical, but allows you to be your best advocate. I continue to promote that today, encouraging other parents to advocate for their children, and themselves, if personally affected. Even more, as my affected child is now 20, it is essential that he become his own best advocate.
Seasons change, and we grow. As my son has aged, so too has the Marfan Foundation and Loeys-Dietz Syndrome Foundation. I started the Loeys-Dietz Syndrome Foundation with genetic counselor and friend Gretchen MacCarrick. It was a friendship that developed because of her commitment to patients like Alex, and parents like us. She saw the struggles that a mom with a sick child had, and she agreed to go on a journey with me to help other families have access to information about a rare condition. By starting the Loeys-Dietz Syndrome Foundation, we were able to not only develop materials and educate families and medical professionals, but raise funds to increase awareness and begin research efforts. The Marfan Foundation was instrumental early on, as we utilized the staff, including a nurse to develop much needed information for brochures and a website. Through grass-roots efforts we built a community that is even stronger today.
Seasons change, and we evolve. I am so very proud to have had the opportunity to help build the Loeys-Dietz Syndrome Foundation, and now serve on their advisory board, as well as continue to serve on the Board of Directors for the Marfan Foundation. I enjoy getting together with families from the past, and
am pleased as I continue to meet new families. I am overjoyed in helping to celebrate the 15th Anniversary of Loeys-Dietz Syndrome. While the diagnosis comes with a heavy burden, we can find hope in knowing that we have an amazing team of medical professionals serving the Marfan, Loeys-Dietz and related conditions communities, and they continue to support initiatives that help those affected, as well as their loved ones; by offering support, and access to world renown medical professionals. We have begun to push boundaries and talk about new therapeutics and even a cure, something that we once thought was impossible. This innovation is exciting as a founder of the LDSF, Marfan Board of Director, LDSF Advisor, and parent of a now young adult living with Loeys-Dietz syndrome. I am also pleased that the Marfan Foundation has been a forward thinker, and I have witnessed them not only embrace Loeys-Dietz, but other rare conditions, such as Vascular Ehlers-Danlos (VEDS). Lastly, highest accolades to Micheal Weamer, President and CEO of the Marfan Foundation, as he has been instrumental in paving the way to build a strong and united front with related conditions. Together, we can make an impact. Seasons change, and together we can journey on. Together, we can have hope.
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Your gift helps the Loeys-Dietz Syndrome Foundation expand the tools and support for families like Beth’s facing a Loeys-Dietz syndrome diagnoses. Your support will directly impact all children and adults affected by Loeys-Dietz syndrome and have a lasting effect for generations to come.