Each year, people around the world come together on February 28th in observance of Rare Disease Day. In 2024, we have the leap-year opportunity to observe this milestone for two days—February 28th and 29th. During that time, organizations, advocacy groups, patients and their families will raise awareness for the more than 6,000 identified diseases classified as ‘rare’ (affecting fewer than 1 in 2,000 people). Of those rare diseases, 4,200 begin in childhood, and 72% are genetic.

Rare diseases, especially those beginning in childhood, have a profound impact on the entire family. As children live with symptoms, undergo numerous diagnostic tests, and endure countless hospital stays and medications, caregivers face the difficult realities of helping them through their journey and acting as a healthcare advocate.

Recently, I had the opportunity to speak with Sarah, mom of Tyler and Kaitlyn, who are both living with a rare primary immunodeficiency called activated PI3K delta syndrome (APDS). Sarah shared her experiences as a caregiver during the family’s long journey to diagnosis. While her entire story is inspiring, one of the most powerful things she said to me was, “‘Rare’ does not mean it’s not real”—an idea I feel is important to convey this year for Rare Disease Day.

Kristie: When did you first learn about Rare Disease Day?
Sarah: One of our many trips to the National Institutes of Health (NIH) happened to be around Rare Disease Day. As part of the programming, they set aside time just for caregivers, and it was a wonderful experience. They provided education that was beneficial for what we were going through because by the time we arrived there, we had already been through a great deal. We’d spent years seeing prety much every specialist out there.

Kristie: What was going through your mind when Tyler was sick, and no one could tell you what was wrong?
Sarah: Which time? (laughing) There were numerous instances where doctors couldn’t tell me what was wrong. After being at the hospital all day with Tyler, I’d go home to care for Kaitlyn. I’d look at photos online and research everything I could, just trying to find someone that had symptoms like Tyler’s (swollen lymph nodes, earaches, a swollen parotid gland, atelectasis (collapsed lung)). Then, I’d go back to the hospital to show them what I found. I was told over and over again that Tyler’s symptoms had to be caused by one thing, not a combination of problems. We were constantly searching for answers. I researched so many combinations of rare symptoms that I could watch the television show House and diagnose the cases right away.

Just when we’d think we might have things figured out or that we were heading in the right direction, we’d have to start from square one. New doctors, new staff, and sometimes a new hospital – no one knew what was causing Tyler’s symptoms or how to help him. Rather than getting a concrete diagnosis, we were told, “We don’t know exactly what it is, but we know it’s an undefined deficiency.”

Kristie: What did you feel throughout this search for answers?
Sarah: Most of the time, you don’t even stop to think about what you’re going through because you have to keep functioning for your loved one. But there were days when it felt like I was in a fog, and trying to find an answer became my job. Everything was about my children.

Most people haven’t been through a situation like this personally, and even family members don’t always understand. Sometimes they’ll say things that hurt, even though they don’t mean to. Over time, you may lose friends. They’re there, but you see less of them, and the support you think you have is gone before you realize.

Not having a diagnosis made all this worse. I couldn’t tell people the name of my child’s disease. I could only describe the symptoms or use the analogy of “the boy in the plastic bubble.” The fact that Tyler didn’t “look sick” also made it difficult for others to accept, and his teachers often didn’t understand why he missed so much school. One of his principals followed me to my car to tell me I needed to do more to keep my child in school. She had no idea that he’d been in the hospital for the past two weeks, nor did she ask—she just assumed that we kept him home again.

The worst feeling is wanting to fight the batle for your child, but knowing you have to empower them to be strong as well.

Kristie: How did it feel when you finally received a diagnosis?
Sarah: Anytime a doctor would say, “We think Tyler may have…,” I’d panic and start frantically trying to learn everything I could about that disorder. Then we’d learn it didn’t match his symptoms, and I’d go back to searching for answers. After that happened a few times, we were eventually told that Tyler has Activated PI3K Delta Syndrome. We finally had a name! I cried. Everyone thinks that if you can’t Google it, it’s not real, so giving it a name helped people grasp it. It helped me to learn more, too. Even though there wasn’t much information at the time because the disease was not known about until 2013, we finally had a name as a starting point for research.

Kristie: After Tyler was diagnosed with APDS, you were told that Kaitlyn didn’t have the same disorder because her symptoms were completely different. How did you learn that Kaitlyn was, in fact, living with the same disease?
Sarah: Originally, they didn’t see anything when they sequenced Kaitlyn’s DNA at the NIH. But after discovering the marker in Tyler’s DNA, they reviewed her DNA again and found the exact same marker. This is why it’s so important for family members to get a genetic test.

Kristie: Once you knew your children had APDS, how did you connect with other families dealing with this disease?
Sarah: On one of our trips to the NIH, we were staying at the Children’s Inn, and someone there asked if I was a part of the private APDS Facebook group. They sent me the invitation and I joined and just listened. In the beginning, I was afraid to share and say the wrong thing. Now, knowing everything I do, I’d want to talk about how APDS can affect people in completely different ways.

Kristie: What advice do you have for other people caring for a loved one with a rare disorder?
Sarah: First, always speak up and advocate for your loved one. You know their story best, and it’s important to be their voice if they need one.
I’d also recommend being prepared with a list of your loved one’s symptoms, medications, and side effects, and know that you may be educating a doctor on this rare disorder for the first time.

My final recommendation pertains to potential hospital stays: Ask to talk to a social worker (or don’t say “no” when they offer to get someone). When you’ve never gone through this before, you might shy away from the idea because you’re already meeting a lot of new people, and you’re used to doing everything on your own. But you might be surprised just how much they can help.

During hospital stays, social workers can set kids up with programs that help them stay occupied with toys, games, or crafts to fit their abilitues. As Tyler reached age 18, social workers helped us navigate the transition from pediatric to adult care.

Kristie: Finally, why do you feel it’s important to you to share your family’s story?
Sarah: When you have a child with APDS, life feels like a roller coaster ride. In the long journey to diagnosis, we lived and breathed the ups and downs. Since APDS was not known about until 2013, there is now a community of people who have had the same experiences. We want to share our story with other families who are researching APDS, so they know that they are not alone. We know how hard this journey is, and we want to help them connect with others, feel understood and supported, and be willing to share what they’ve learned or experienced along the way as well.

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