The Salla Family
Ever since our conference in September, I feel very connected to our little "Salla Family" out in the world. We communicate through phone calls, messages, and even video chats. It gives me comfort to have a "family" like this out there. I'm so thankful for technology that makes this possible!
Less than 200 people in the world have Salla disease. Let me restate that - less than 200 people in the world are DIAGNOSED with Salla disease. More undiagnosed cases are out there. When we were first trying to find answers, we heard about many other conditions, but they just didn’t quite fit. Genetic testing round one didn’t provide us answers, so we had to try again. The geneticist told us they still might not find anything, so be prepared for no answers. Then she asked us if they DID find something, did we want news over the phone or did we want to find out in person? I imagined myself getting a phone call and still having to wait for an appointment to find out. Nope. We wanted to know right away over the phone.
Testing takes time, and we have a busy family. Spring came and went, and summer began, and we moved on with our lives. With kids you have to focus on the here and now and be right in the moment with them. So testing was put in the back of our minds.
Then one day, I pulled into the Target parking lot with my kids. Before I could get out of the car, the phone call came. “We have an answer…Salla disease…Lysosomal storage disorder…extremely rare…” Bits and pieces of what she was saying were registering in my mind, but one thing she said was perfectly clear. “Try not to google it, we can talk more at the appointment.” Really? You’re telling a parent not to google the rare disease you just said our son has? Of course we were going to google it. I did it right there in the Target parking lot. What I found was minimal, the same basic descriptions and a few studies from years ago. I sat there feeling lost and hopeless.
Fast forward to last night. I realized I had a message on Facebook from somebody I didn’t know. She was reaching out to me because her son had just been diagnosed with Salla, and they hadn’t met with the geneticist yet. She just wanted some answers. Just like I had. But her searching had led to this page, the Salla Treatment and Research foundation, which did not even exist at the time of our diagnosis. One of the goals of the foundation is to bring families together and help build a community of support, and last night was proof that it has done just that. She found this page, was able to learn more about Salla, and she reached out to us. I want other families to know that they are not alone in this world, and I am hopeful that as doctors learn more about the disease, more previously undiagnosed families will find comfort here.
Besides wanting to find other families affected by Salla, I remember craving information. I read (and still reread) the same articles about the disease. Anytime we meet a new doctor or specialist, they always come into the room telling us they had to read about Salla before meeting us. There just isn’t much out there, and no current research is taking place. But at the first ever STAR conference this fall, a team of doctors and scientists put together a plan to start new research. The National Institute of Health has offered their facility, now the foundation is working on raising money for a postdoctorate who will research Salla for 3 years. The plan is set, the facility is ready and waiting, just this one piece is missing and we’re all doing what we can to make that happen!
Thanks for reading!