Date: 11/26/2024

To the FIRST Foundation community, we would like to introduce everyone to our
families. We all are navigating life with children diagnosed with Sjögren-Larsson Syndrome
(SLS). It’s been a journey that has brought us together, and we’ve discovered many
commonalities in our experiences. Together, we’re here to support each other and share our
stories! Here are stories of just 3 families within our community, written by Cindi, Christy, and
Becca.

(Owen, Age 14, Los Angeles, CA.)

When our son, Owen, first received his diagnosis just a few months before his third
birthday, we felt completely lost and isolated on this journey. We spent nearly two years visiting
various well-regarded doctors in NYC, many of whom had no answers for us. Some even
suggested that we might never have a clear understanding of his condition, advising us instead
to continue with therapies that they claimed were all the same. As parents we knew a skin
condition, ichthyosis, and other delays would somehow be linked. After one final attempt with a
geneticist, things began to change. She performed a whole exome sequencing test, ultimately
leading to a match for a rare syndrome: Sjögren-Larsson Syndrome (SLS). We were so thankful
for the dedication of his geneticist, who took the time to write a comprehensive letter detailing
what Sjögren-Larsson Syndrome is and where we could find resources, such as the FIRST
Foundation. Shortly after receiving this information, we connected with them and began to find
our way through other families and resources, which also led to Dr. Rizzo at the Nebraska
Medical Center, who has been a constant source of knowledge on SLS and support for all the
families with his expertise. -Cindi

(Kayla, Age 26, Denver, CO.)

When our daughter Kayla was born the first thing that we noticed was her skin. Kayla’s
skin was red, thickened, and seemed very dry. On the third day, a dermatologist came and told
us that she had Ichthyosis. During this same time, Kayla began missing her motor milestones,
sitting up, rolling over, etc. We were then sent to a physiatrist. There Kayla was diagnosed with
Cerebral Palsy. All of this was scary and confusing for first-time parents. As I researched, talked,
and thought about it, I had strong feelings that this was not Ichthyosis and Cerebral Palsy
separately, but was connected. We advocated for Kayla to secure therapies and equipment to
keep her safe. At a dermatologist appointment, the doctor handed me a pamphlet for FIRST. I
read every page on the website. I looked at pictures, read articles, and found some new skin
products but did not see any mention of anyone else who had mobility issues along with their
Ichthyosis. I signed on as a member and read the newsletters cover to cover. Kayla continued
with her therapies while adding new ones, and seeing new doctors but progressing slowly along
the standard developmental continuum. We took Kayla to visit the medical school. There they
took videos, fingerprints, hair samples, etc. In October, we had a call from the doctor. The
students had found what they thought might be our answer. Based in Sweden, the name was
Sjögren-Larsson Syndrome. This was an ultra-rare recessive form of Ichthyosis with
neurological symptoms. Kayla was blood tested. I knew in my heart this was it. I looked on the
internet while waiting for the results. The pictures and descriptions seemed an awful fate for my
sweet baby. When we received the diagnosis of SLS we learned of Dr. Rizzo, who was and is
the world’s specialist. We took Kayla to meet him and they did the gene sequencing. Slowly we
started to meet other families. There were only a handful of children that were older than Kayla.
We talked with them and felt so happy to know that we were not alone on our journey. Kayla is
now 26 and as healthy and happy as she can be given her many challenges. -Christy

(Haiden, Age 9, Portland, OR.)

It seemed as though I was blindsided every step of the way with my second born. I never
planned on this being the path I would be led on with my child. While it was a quick two weeks
for him to be officially diagnosed with Ichthyosis, we really wouldn’t know what that meant for
another three years. The advocacy of a mother and her intuition is a full-time job. While I knew
Haiden had ichthyosis, it didn’t explain all the missed milestones, one after another. I sought
answers from specialist after specialist. Even then we didn’t have answers. It was one
misdiagnosis after another. Finally, the frustration got the best of me and I posted in the FIRST
Facebook group. I pleaded with the Ichthyosis community and voiced my concerns about my
child missing his milestones. It was then that another parent came to recommend the same
syndrome that his daughter had, Sjögren-Larsson Syndrome (SLS). It was still a few months
before we could get the full genetic testing done to confirm our suspicions. Once the test came
back with a final answer it was like a huge weight was lifted and so many doors opened up. I
was introduced to many more families of children like mine and more importantly, I didn’t feel
alone anymore as our family was welcomed with open arms. I have come to realize that our
community is our biggest resource. We have grown to learn so much from others who are on
the same path and will continue to advocate alongside one another. This past September we
had the pleasure of deepening our connection while visiting with two other families in Omaha.
Not only did we finally meet the friends we have grown to love like family, but we also got the
opportunity to sit down and have an in-depth conversation with Dr. Rizzo, who is a wealth of
knowledge and a highly respected specialist of SLS. -Becca
Our journeys took a positive turn when we all got in touch with Dr. Rizzo, who has been
studying Sjögren-Larsson Syndrome for over thirty years. His expertise has been invaluable to
us. Additionally, we reached out to several other families living with SLS, connecting through
calls, emails and even meeting up, which made us all feel much less alone. It has been a relief
to find a community that understands what we’re going through and to learn from their
experiences.

Today there is no cure for SLS but we continue to pursue medical breakthroughs
through drug trials and therapies. Thank you FIRST for letting us share our stories in hopes of
finding other affected families and supporting them. If you or anyone else you know has
Sjögren-Larsson Syndrome, or our stories sound similar to anything that you are experiencing
with milestone delays but aren’t yet diagnosed and would like to get in touch with other families,
please reach out to: sjogrenlarsson@gmail.com or SLS Family Network on Facebook.