Rare Disease Day – Thoughts Guest-Written by my Wife, Kate
How many especially rare people do you know?
Dear Friends,
This past Friday, the 28th of February, sometimes adjacent to what is the rarest day of the year, February 29th, marks Rare Disease Day, a day when people with rare diseases and genetic conditions can be recognized and celebrated. Our son Jukie is one of few Californians with Smith-Lemli-Opitz Syndrome, so we use this opportunity to inform people about SLO.
My wife Kate is particularly active in these efforts. As the Director of Family Outreach for the Smith-Lemli-Opitz Foundation, she reaches out several times a month to families who have just discovered Smith-Lemli-Opitz Syndrome in the same week that they are bringing home a new baby from the hospital. Sadly, most of those babies get to know the hospital well.
Published on her social media on this past Friday, Today’s newsletter comes courtesy of my wife Kate. If you are curious about the syndrome or Foundation that has become a big part of our lives, please visit
https://www.smithlemliopitz.org
Heartfelt thanks to Kate for her admirable advocacy and excellent writing!
Today we celebrate Rare Disease Day, a global initiative that raises awareness and support for the more than 300 million people worldwide who live with a rare disease, including our son Jukie. This international effort includes participation from 106 countries. This year’s theme is "More Than You Can Imagine.”
Smith-Lemli-Opitz syndrome is one of the over 7,000 identified rare diseases. A disease is classified as rare if it affects fewer than 1 in 2,000 people globally. Smith-Lemli-Opitz syndrome (SLO) is more than ten times rarer than that. For example, SLO only affects between 20,000 to 70,000 people born in the U.S. All parents of kids with SLO are carriers of the gene mutation that causes it — almost none of us knew that or had ever heard of Smith-Lemli-Opitz syndrome before our children were born.
Reflecting on the words "More Than You Can Imagine,” I think of the overwhelming emotional, physical, and financial costs associated with rare diseases. People with SLO face many significant challenges. Many die at or before birth. Those who survive struggle to eat and to grow. Language comes slowly, if at all. Most fall somewhere on the autism spectrum. The vast majority have intellectual disability. We parents learn early on that we will spend much of our lives advocating for our children. We must often educate the health care providers our kids see, since most medical professionals will never encounter another child with Smith-Lemli-Opitz syndrome in their entire careers, leaving them unprepared for the unique challenges our children face. We advocate in our local schools for our kids to get the best education possible. All our work advocating for our kids is SO much more than anyone can imagine.
As children with SLO grow, new challenges emerge — especially behavioral issues, as we see with our nonverbal son, Jukie. We can only imagine the frustration he feels when he cannot communicate his feelings, thoughts, needs and desires. This part of SLO is harder and more than anyone can imagine.
And speaking of ‘More Than You Can Imagine,’ I cannot overstate the rage I feel toward the current administration and its Republican congressional allies, who are actively harming society’s most vulnerable. Their catastrophic Medicaid cuts will devastate our kids with Smith-Lemli-Opitz syndrome. Medi-Cal pays for our son Jukie’s regional center services, such as the behavioral intervention program that he participates in every weekday morning; a highly skilled and trained team work with him on decreasing his aggressive behaviors and increasing his functional communication skills. We are more grateful than anyone can imagine that he’s been accepted into this program, and we hope it will help him overcome these frightening outbursts.
The current occupant(s) of the Oval Office are causing so much more horrific and devastating destruction of our government than anyone could have imagined. Think about an America without the Department of Education, including the loss of civil rights protections against discrimination based on disability (or race or gender). And imagine a world without IEPs (Individualized Education Programs) for our children with disabilities. Our Felon in Chief and the guy in the black hat holding the chainsaw seek to end the federal government’s commitment to ensuring equal educational opportunities for every child.
Many in the Rare Disease community live with compromised health and immune systems. When our family had the flu, only one of us (our sweet Jukie) ended up with pneumonia. While our son is much more vulnerable than most to infectious diseases, we have an antivax and anti-science nutjob running the Department of Health and Human Services, with plans to interfere with or even halt the development of next year’s flu and COVID vaccines, a serious concern for immunocompromised individuals and the rest of us.
And so, what do we DO on this Rare Disease Day, even as we watch our children’s lives becoming so much more difficult, as a result of the current administration’s draconian executive orders and proposed legislation?
We must harness the power of resilience and connection with others in the Rare Disease community. We must fight for equal educational opportunities for all students. We must speak out, tell our stories, and let everyone know what the administration is doing to our kids and our communities. We must protest, call our legislators, show up at town hall meetings, and organize locally — not just for our rights, but for what is right.
One thing I know for sure: alone, we are rare; together, we are strong.
I host a weekly pub quiz here in Davis, California. If you would like to receive a weekly challenging pub quiz (31 questions!), please subscribe via Patreon at https://www.patreon.com/c/yourquizmaster.
Best,
Dr. Andy
P.S. Three questions from last week:
1. Internet Culture. What does one take with Joplin, Notion, or Obsidian?
2. German Cities. Starting with the letter S, the capital and largest city of the German state of Baden-Württemberg is the sixth-largest city in Germany by population. Name the city.
3. American Rivers. At 444 miles long, the longest river on the East Coast of the United States crosses New York, Pennsylvania, and Maryland. Name the river.
P.P.S. Our next Poetry Night with new UC Davis poetry professor Cindy Ok is March 6.
Thank you both. I’m fuming. It is heartening when we come together like this. It’s going to take a lot for us to fight this fight. Much love and gratitude, Kate, Andy, and Jukie. ❤️