Imagine your newborn, your first as parents, is presenting with questionable symptoms:
- Doesn’t cry at birth;
- Won’t suck;
- Limbs are flimsy.
Doctors brush off those symptoms as
“babies have different developmental timelines so let’s just wait and see how he progresses over time.”
So they send you home with tubes to place through your new pride and joy’s nose for feeding, but with critical warnings that one wrong move might kill your child.
If being a first time parent to a child with normal development isn’t scary enough...
Ken and Ann Slaw had so much more to worry about with Andrew.
Diagnosing A Rare Genetic Disorder
Ken and Ann frequently visited with Andrew’s pediatrician from birth until he was four years old as symptoms became even more alarming.
Even when Ken and Ann explained to their pediatrician that Andrew would pass out after intense laughter, she still had a wait and see attitude for a referral to see a neurologist.
The catalyst for action was what would feel like a catastrophic event for any child with screams of terror...
slamming their fingers in a sliding glass door.
Heck, even as an adult there might be displays of agony.
Not Andrew.
He didn’t cry.
Anne was struck with the thought,
“There must be a neurological problem if my child can’t feel pain.”
That’s when the pediatrician agreed to a referral and Ken and Anne finally got the answers they needed.
A referral to a neurologist and further testing revealed a rare genetic disorder known as Familial Dysautonomia, abbreviated FD.
Upon diagnosis, the feelings of relief and despair clashed for Ken and Anne.
While they had the comfort of diagnosis, they feared the prognosis.
At that time, children diagnosed with FD had a life expectancy rate of 10 years.
What is Familial Dysautonomia?
Familial Dysautonomia (FD) is an inherited dysfunction of the autonomic nervous system which produces symptoms early on for newborns of a floppiness of the limbs, an inability to gain weight, trouble with sucking and/or swallowing. A toddler may also faint if laughing, crying, or startled.
Children and adults may also struggle with high blood pressure and have dizzy spells when standing up from a chair. Additional indicators include a decrease in taste sensations, smooth tongue, body temperatures swings, and more.
“Most alarming is the state of “autonomic crisis,” usually triggered by illness, intense stress or certain chemicals found in food or medication. During the autonomic crisis, FD sufferers will experience skyrocketing blood pressure and heart rate and they will endure uncontrollable and violent retching.” ~FDnow.org
A Parents’ Quest to Find A Cure
About five-hundred cases of FD are known around the world.
There is no known cure.
Ken and Ann wouldn’t and still won’t accept that reality.
Just like any parent, they couldn’t and still can’t fathom losing their child.
For Andrew, at that point of diagnosis, the reality was “my son might be gone in six years and that’s not OK for us.”
That’s when the now Society for Vascular Surgery Executive Director Ken Slaw, Ph.D, and his wife Ann Slaw, JD, put on their thinking caps and reached far and wide into their social and professional web for help.
- They started with a think tank of friends and colleagues to brainstorm ideas.
- They started a foundation, 501(c)(3), FD Now, and started raising money to support research.
- Ken attended pediatric conferences in search of researchers who might be interested in teaming up with a family to get life-saving answers. It was at a conference where Ken met Dr. Berish Rubin who was working on a different research project, but had a personal friend connection to the disease.
- With the support of FD Now, Dr. Rubin and a fellow colleague Dr. Sylvia Anderson launched The Laboratory for Familial Dysautonomia Research at Fordham University, New York, which is dedicated to studying the molecular biology of FD.
Big Medical Breakthroughs for Familial Dysotonomia
In addition to the discovery of the gene mutation that causes FD, research at The Laboratory for Familial Dysautonomia Research, it has produced numerous life-changing treatment breakthroughs.
The biggest breakthrough came when Andrew was at the end of life expectancy for children with FD. At age 10 he was in the hospital for months without an end in site for his continuous cycle of “autonomic crisis.” Just when physicians were struggling with what more they could do, for Andrew, Anne got the call that researchers at The Laboratory had isolated a form of Vitamin E (Tocotrienols) that could be injected in order to increase autonomic stability. They tried it and it worked.
How Researchers Discovered Vitamin E
Researchers discovered the power of Tocotrienols through logs of eating habits of children with FD around the world. They noticed most would crave sushi. When an organic brown rice was used, the children would experience more autonomic stability. Also Isoflavones found in soy would help improve symptoms for children with FD. Logs of eating also led to other breakthrough developments such as the power of a compound in green tea, vitamin A, beta-carotine, olive leaf, rosemary, and more.
“The hallmark of these (natural) treatments is that they treat the underlying cause of the disease, rather than just treat the symptoms.” ~ FDnow.org
FD Research Impact
Andrew is now 31 years old and continuing to thrive without debilitating, life-threatening moments of autonomic crisis.
But the fight for life remains.
While Ken and Ann are paving new paths for those with FD, they will not stop their plight to find a cure, and fund research that can help their son Andrew and the hundreds of children around the world live a longer, healthier, more stable life.
What This Means For Other Diseases
Ken and Ann hope their story inspires others to never give up hope. Science evolves. Just because there may not be a cure now, doesn’t mean there isn’t one ready to be uncovered. Keep your eyes open, continue to ask questions, and never stop seeking answers. Ken maintains this attitude as Executive Director of the Society for Vascular Surgery as he also helps healthcare professionals and researchers strive to improve the quality of life for patients around the world with vascular diseases such as Peripheral Artery Disease, a circulation issue that impacts mainly the leg arteries, which can lead to life and limb-threatening complications. He says,
“Our story is replicable with any disease. Anyone can create a human network of changemakers. Everyone can learn. We can create the change we want to see. The key is to never give up hope.”
For more information on FD, go to www.FDnow.org (just a few more days to participate in their online auction to raise money for FD. (With such tangible results, funds are truly life-saving).
Editor's Note: I met Ken Slaw for the first time in person at Veith 2022 in New York in November to talk about our passion for saving life and limb for those with peripheral artery disease. I was in awe to discover his passion for helping others ran deep and well beyond vascular disease. Our one-hour planned meeting turned into a more than four-hour deep dive into his core values, passion, and purpose with global impact spanning two decades. He and his wife are special humans who are angels here on this earth with a self-less commitment to helping others live a longer, better quality of life. This story is worth a listen as their contagious energy is sure to inspire you to do the same.
For more information on peripheral artery disease go to www.standagainstamputation.org and for real-time patient advocacy and support for peripheral artery disease, go to www.thewaytomyheart.org