Friends and Supporters,
Today’s story is about a sweet girl with a smile that will melt your heart. Her name is Katie, and she and her parents and little sister live just down the road from us in South Carolina. We have had the great pleasure of meeting the entire family and appreciate the guidance we have received from Katie’s parents, Nick and Laura. Nobody ever wants to enter the rare disease community by choice, but meeting people like Nick and Laura is one of the blessings of being a part of such a tight knit community.
Katie is 6 years old and has been diagnosed with Schaaf-Yang Syndrome (“SYS”). One of Katie’s biggest challenges is communication. Like others we’ve highlighted before, Katie is non-verbal, and struggles telling her parents her needs and wants. She also has struggled with sleep apnea, which is common with SYS patients that has made her sleep with a C-PAP machine for some time.
I asked Nick and Laura how Katie’s diagnosis has impacted her and their lives. In their answer, you will see a common theme from other rare disease parents, but there are more details they gave me that put things more into perspective about what our future may look like with Hayden. Every decision the family makes must account for Katie’s needs. Also, it’s hard not to plan too far in advance while still being present for Katie in the here and now. They further went on to say that Katie attends a separate school for children with disabilities. This is something I had yet to consider since Hayden is not of school age yet. Having kids at the same school can make having multiple children easier. You have one schedule to manage, one drop off, one pick up, one place to go for school events. With your children at two different schools, that now doubles the complexity of daily life in an already complex life.
They also mentioned one of their biggest challenges is the unknown. This is something we struggle with as well. In reality, a lot of things are unknown to us in our daily lives, but raising a child with a rare disease makes this feeling sting a little bit more. That is why it is important to live in the present, the future is never promised or known.
Katie is one of the sweetest girls I’ve met. Courtney and I visited Katie last. Before dinner, we were playing in the basement of her house. I was sitting Indian style in the floor helping Katie’s sister with a puzzle. I looked up and Katie and I locked eyes. She started walking to me with the biggest smile, and without hesitation sat right in my lap and cuddled up with me. This is indicative of who Katie is. Her parents described her as a social butterfly and a happy curious little girl. I agree.
Katie has had some big accomplishments lately. She has a tablet that can help her communicate with her parents by pushing buttons as she learns them. Recently, she has been able to correctly identify and select the month on her device! Also, you know how I mentioned she has been wearing a C-PAP? Well, as of 2024, no more C-PAP!
I finished by asking Nick and Laura what their hopes and dreams for Katie were. Their answers were simple, short, and sweet. Nick said, “no restrictions”; Laura said, “she’s happy”. Like I’ve said in past posts, these are dreams for any children we have, to not be restricted by anything and to be happy. Laura ended with one more hope. She said, “I hope she knows how much she is loved”. I can answer that for Katie. I’ve seen her around her parents, her sister, and her grandparents. Laura – The answer is yes, she knows she is loved, I’ve seen it.
See for yourself with the pictures below. To donate to help to continue to fund research to help find therapeutic treatments or a cure for SYS, please donate at www.faithforhayden.org/donate.
With love,
Matt and Courtney
