NTSAD Impact Stories
Growing Up Rare:
The Sibling Perspective
A Club No One Wants to Join
Emma Ronaldson, Esteban Roman, and Samie Ponsor were just twelve, seven, and five years old, respectively, when they attended their first NTSAD Annual Family Conference. As healthy children who each had a sibling affected by a rare disease, life at home didn’t look the same way for them as it did for many of their friends. Emma’s sisters, Mollie and Madelyn, were diagnosed with juvenile Sandhoff. Esteban’s sister, Bela, had juvenile Tay-Sachs. Samie’s brother, Nicki, had infantile Tay-Sachs.
As Esteban recalls, “Initially, I felt very nervous, awkward, and shy about speaking to the other kids [because of] the specific struggles I was facing.”
Emma shares how she was reluctant to connect at first, “I did not understand how my life was about to change with the diagnosis of my two younger sisters. I remember it being extremely hard to talk to other siblings about their experiences.”
Samie recounts finding her place, “I remember being drawn to other kids like my brother. I had never met anyone else like him.”
What they all found in their conference attendance was a new connection to a community of other special siblings who understood what their rare lives looked like for each of them.
Special Support for Special Siblings
While every sibling’s experience is different, sharing these reflections can help other siblings recognize their own feelings, find their voice, and know they’re not alone.
As Esteban looks back he describes, “At the time, I probably would have told you that I didn’t want to speak to a therapist, because what kid wants to speak to a therapist, but in retrospect I think that having a good counselor who could show me tools to use and who could serve as an outlet for my emotions and troubles would have been a great resource.”
“When I first found out about my sister’s disease, it was difficult to understand how it was going to affect my life moving forward. I think that it can be hard to see that, especially at a young age, but with more information about the opportunities siblings can pursue as they grow up, to be connected with NTSAD could be very life changing.” Emma tells us.
Samie remembers that she loved spending time with her sibling but, “I also wished I had the opportunity to do normal things with them or with my parents. Having the opportunity to spend one-on-one time with my parents to do typical kid things.”
As Esteban recalls,
“Initially, I felt very nervous, awkward, and shy about speaking to the other kids [because of] the specific struggles I was facing.”
Finding Community and Understanding
Just like adults, when coping with a family member’s rare diagnosis, siblings often struggle with feelings of isolation and loneliness, especially when a situation is overwhelming or difficult to understand. Once connected, these siblings found a new place of support.
“I was able to learn a lot about what others were going through or did go through,” shares Emma.
Esteban mentions that, “Being around kids who could relate to me gave me a space where I did not need to explain to my peers what my home life was like or what my daily struggles were. I was finally surrounded by a group of kids around my age from whom I did not feel like an inherent outsider.”
In finding support and familiarity in a group setting, Samie notes that in attending the NTSAD Annual Family Conferences, “I felt even more drawn to the other affected kids, than I did to other kids like me.”
Samie recounts finding her place,
“I remember being drawn to other kids like my brother. I had never met anyone else like him.”
Growing Up in NTSAD
Many families attend the Annual Family Conference year after year and develop friendships they carry with them from diagnosis through bereavement. These siblings are no exception.
Unsurprisingly, Samie found herself aligned with the affected children in NTSAD’s Camps Snuggle and Active, alongside her mom, Rhonda DuVall, who is an RN and served as Camp Director for many years. “These days, I find myself staying connected more with the parents of affected children that I’ve interacted with in Camp Snuggle,” she reports.
“Emma values her years attending the conference. As she tells us, “Looking back I realize that it was very beneficial for me. I have learned that there are other people who do know what I have experienced as a sibling when [outside of NTSAD] a lot of people are not able to grasp what we have to go through. It is always nice to know that you are not alone.”
Esteban emphasizes that, “In adulthood I’ve come to recognize that being connected to other siblings was one of the most important things to have happened to me in my life. I met my best friend at the very first conference I attended, and [he] will be the best man in my wedding coming up in a few months.”
“I did not understand how my life was about to change with the diagnosis of my two younger sisters. I remember it being extremely hard to talk to other siblings about their experiences.”
Emma shares how she was reluctant to connect at first.
Making an Impact
For these three siblings, giving back is part of their experience now as young adults.
“NTSAD gave me confidence and a safe place to look forward to year after year. Without the yearly family conferences, I am convinced that I would have never found a way to cope with the trauma that it is to lose a sibling. I feel called to be the role model and mentor that I wish I would have had while growing up,” shares Esteban.
The conference is a place of comfort for Samie. “I volunteer at conference because it’s the time I feel most normal. I never have to think about how to answer the question ‘How many siblings do you have?’ when I’m at conference. I don’t have to worry about making someone feel uncomfortable with my story. I get to freely talk about Nicki, and I get to connect with children like him. It makes me feel close to him.”
Emma now finds herself pulled between two worlds, “I have seen how much NTSAD has supported my family. With one of my sisters passing away recently and another still being a fighter, I have found myself wanting to be more involved. I realize that my family’s story has impacted a lot of people and I want to continue to make that impact.”
From Rare Sibling to Young Adult
Samie, now an RN and once again volunteering in Camp Snuggle, details how having an affected sibling directed her life. “I went into healthcare because of Nicki. It also shaped my family planning. I knew early on that I had a high chance of being a carrier of Tay-Sachs. I was tested at 17 and before starting a family myself. My now-husband was tested as well. We have a beautiful daughter who attended her first conference at three months old. I want to raise her within NTSAD. I will teach her about her Uncle Nicki and about Tay-Sachs, and I hope when she is ready to start a family for herself that she will be tested as well.
The same is true for Emma, “My sisters have inspired me to pursue a career in physical therapy. Growing up I attended a lot of my sisters’ PT appointments, and I have seen firsthand how beneficial it is for kids with this disease. I am currently in PTA school, and when I graduate, my goal is to work with kids with special needs.”
Esteban shares what it’s like to hold both the beauty and pain of living a rare life, “I attribute much of my best growth to the hardship and trauma that it is to lose a sibling to a terminal illness. Having an affected sibling taught me grace, patience, and compassion. While of course I mourn the loss of my sister, she has not come and gone in vain. I would not have become the individual who I am today without her existence. I can empathize deeply with others, remain focused when faced with stressful situations, and can make difficult decisions. I find that these are attributes that have not only helped me in my career but have also helped me to become a better friend, son, and fiancé.
Community and Connection: A Word for Today’s Siblings
Looking back on their own experiences, these rare siblings offer words of encouragement and reassurance for others.
Samie, wants siblings like her to know, “You matter and you are important. The feelings you have, and the experience you have matters even when your sibling requires so much additional attention.”
Emma wants to remind them, “Something that the rare siblings of today would benefit from knowing is that there are going to be hard days, but there are also going to be really good days.”
Esteban points out that, “While your affected sibling is a big part of your life (rightfully so), pay special attention to do things that are fun for you. Having an affected sibling without a doubt forms the person who you will become, but it does not need to become your identity. Do not stop yourself from enjoying hobbies, hanging out with friends, and developing new skills. Those are the things that will shape your identity in the future.”
Through Their Eyes: A Word for Parents
Siblings often grow up balancing love and responsibility. Their experiences remind us that while they may not be the primary patient, they are also deeply affected by the journey given their unique position in the rare family.
Emma wants parents to know that, “The sibling experience involves learning to put others before ourselves. Having affected kids can take up a lot of time and energy, and as a sibling, you have to grow up faster than the average kid.”
Samie shares an important perspective as well, “We understand more than you think and want to be included. I loved being involved in my brother’s care: feedings, chest percussion, breathing treatments. I loved asking questions and being taught about my brother and his disease.”
Esteban implores families to connect, “Being a rare sibling can feel incredibly isolating. I know that caring for an affected child already brings an immense amount of pressure and responsibility, but if you find yourself having any extra energy, be sure to do what you can to help your non-affected children find community. [I’ve always felt that] the more that your non-affected children are engulfed in extracurriculars, sports, and church communities, the better off they will be.”
Supporting Healthy Siblings
As we’ve seen through the rare journey of the three amazing siblings profiled here, when a child has a rare disease, it affects the whole family. Siblings may have deep feelings, big questions, and serious concerns that stay with them throughout their lifetime. They often feel different and isolated from their friends who may not understand life with a rare sibling at home, or even living with loss. Visit the Supporting Healthy Siblings page on the NTSAD website for more information on helping siblings cope with a rare disease diagnosis, connection to the NTSAD Sibling Support Group on Facebook, and more.
You’re not alone. NTSAD is here for you. If you’d like to connect, please reach out to NTSAD’s Director of Family Support, Becky Benson, at becky@ntsad.org. We’re here to listen, answer questions, and help you find resources that meet your family’s needs.
We’re Here for You
If you’re struggling to find answers about your child, you are not alone. Trust your instinct, keep pushing for answers, and contact NTSAD’s Director of Family Support. We’ll provide accurate information on symptoms and diagnostic tools, as well as personal support you can rely on.
If you’re a healthcare provider, please encourage your patients to opt in to expanded carrier screening, regardless of their genetic background. Contact NTSAD’s Director of Family Support for more information on symptoms and diagnostic tools for Tay-Sachs, Canavan, GM1, or Sandhoff diseases.
If you’re thinking about starting a family or if a relative has a rare disease, please learn more about carrier screening, and consider asking your healthcare provider to order a test for you.
