Rare Resilience was formed out of a family’s obsession with a little boy. Makai was born on 08/02/24 to parents who were over the moon in love with him. His mother had a difficult pregnancy, had tested positive for spina bifida at 16 weeks, and then had a long, painful, labor that resulted in a c-section. This precious newborn had to go to the NICU where he was given great care. The wonderful neonatologist, Dr. LaForgia, noticed several quirky things about the baby, but didn’t seem alarmed. Compared to so many of the babies in the NICU, he seemed healthy. There wasn’t much emergently happening with him medically and he was discharged quickly. As Makai’s parents were getting ready to take him home, the Doctor came to say goodbye and urged his parents, Molly and Timmy, to have their baby genetically tested. The NICU nurse made the referral to VCU Children’s Genetic department in Richmond, VA, and then informed them that there was a very long waiting list.
In September, Makai began to have seizures. He was taken to the local emergency room where they decided he needed to be rushed by medical flight to VCU. Unfortunately, the weather wouldn’t allow the helicopter to safely transport him so his tiny body was strapped to a gurney, and he went by ambulance. A diagnosis of epilepsy was added to the ever-growing list of diagnoses. The one silver lining was that his seizure activity moved him up on the waiting list for genetic testing and in the fall of 2024, he was tested. After what seemed like an eternity, the results of the genetic test came back positive for a deletion syndrome. Everyone looked at each other in confusion thinking, “What is a deletion syndrome?” As Makai’s mother was speaking to Jordan, the genetic counselor, Makai’s Baci (grandma) had typed in “deletion syndrome” into the Google search bar. Just as she started reading the description, Molly sent her a text telling her that Jordan said that whatever we do, we should NOT look it up online, but it was too late. After that first reading, everyone was devastated. Makai’s particular deletion syndrome is called 1p36. It had only been discovered in the 80’s and was so new that it was just known by its description. The most devastating thing about the syndrome is that the particulars can cause a premature death.
Makai’s mother made it her mission to learn as much as she could about this syndrome, to connect him to resources, and to find a community for support. What she found immediately was almost nothing. Luckily, she did find a community for this particular syndrome online and in doing so found some education and support. With the backing of Makai’s father, together with their families, they were able to get ahead of the curve in terms of connecting Makai to resources that would help lessen the effects of many of the symptoms of the deletion. Makai is well behind in his development, but he is making slow and steady progress. It is a testament to the love of his parents and their families. We remain obsessed with this beloved little boy.
Rare Resilience was specifically created to assist families who have a member with a deletion syndrome, with a focus in the beginning on 1p36, since this is the community in which Makai is embedded. The goal is to not duplicate any services provided by any other organization, but to complement and add to them. We hope to partner with other deletion syndrome support groups as well and will not turn down services to any family struggling.
Our Mission
Support and Advocacy
Our nonprofit is dedicated to supporting families affected by deletion syndromes through education, advocacy, and community resources. We strive to raise awareness, promote research, and improve access to care for all individuals impacted by these rare genetic disorders. There is no cure for deletion syndromes; treatment focuses on managing symptoms and improving quality of life through a multidisciplinary approach. These are crucial:
• Therapies: Early intervention with physical, occupational, and speech therapy is crucial. Intensives often can assist someone with a deletion syndrome to get to a higher stage of development, increasing mobility and independence. These are not typically covered by insurance.
• Medical Intervention: Treatment for seizures (anti-epileptic drugs), and management of cardiac, vision, or hearing issues by specialists. Swallow studies, feeding clinics, and equipment may also be vital.
• Support: Sign language or communication devices can assist with communication limitations. Finding other individuals or families who are managing a deletion syndrome can be a great source of comfort, education, and joy. Financial support can make a huge difference for families to be able to get to National Conferences and to pay for out-of-pocket expenses that impact quality of life.
Whether you are a parent seeking guidance, a healthcare provider looking for resources, or an advocate wanting to make a difference, we are here to help. When people first learn about deletion syndromes, they often learn about many challenges that come with these genetic differences, but those differences doesn’t tell the whole story.
Every individual with a deletion syndrome has their own pace and personality, but there are so many beautiful and positive things that they bring to the world.
Each person’s, or family’s, experience tells a story of hope, resilience, and determination. These stories are reminders that with the right support, individuals with rare genetic differences have a positive impact and will surprise, inspire, and achieve, if only in their own special way.
This non-profit will provide education to NICUs, Children’s Hospitals, hospital case managers and social workers, pediatricians, specialists, families, and the general public. This non-profit will fundraise and provide financial support to families for things like equipment and intensives that are not covered by insurance and for the costs of attending the 1p36 Deletion Syndrome Support and Awareness National Conference (or other deletion syndrome conferences) where families can come together in love, support, and even grief, as there are children and families who do not return each year because of this genetic difference. This non-profit will advocate on the local, state, and federal level for expanded benefits and services for our family members and friends who have a deletion syndrome, a genetic difference that makes life harder and also more sacred, so that their quality of life is raised. Lastly, we exist to add some fun and levity into our own lives and into the lives of others. Our beloved Makai has changed the world already. He is truly a wonder and a huge source of joy for all who meet him. We want deletion syndromes to be as well-known as other genetic differences, like Down Syndrome, and for our realities to be acknowledged, supported, and even celebrated. People with deletion syndromes are not a monolith and deserve to be seen as individuals. They want a life like yours and to be accepted as is. Love doesn’t measure chromosomes.
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