Kaila Guy, ASMD
Tell us a bit about yourself, such as where do you live and what do you enjoy doing.
My wife, Jennifer, and I (David) both grew up in Massachusetts and up until a month ago lived in Brookline, MA (right next to Boston). We have recently relocated to Sarasota, FL to enjoy a warm winter, while my office in Boston is closed. I’m the Chief Compliance Officer for Devonshire Investors, a private equity and venture capital firm, and Jennifer is a ballet teacher. We have two girls Kaila, 13 (with ASMD) and Collette, 7.
My wife hoped to have little ballerina’s, but my girls turned in the ballet slippers for gymnastics. Both girls compete competitively, and we spend most our week shuttling our girls back and forth to gymnastics. Seeing Kaila excel at gymnastics and her little sister try to keep up is what I enjoy most.
When did you receive your diagnosis? What led you to diagnosis?
Kaila received her diagnosis at the age of 5. Her stomach was noticeably distended starting at age two-three, but her pediatrician told us it was baby fat and she would grow out of it. At age 5, my wife brought my daughter in for a checkup for an ear infection, and the doctor on call started feeling her stomach and thought she felt Kaila’s spleen and liver.
For about 4 months doctors at Boston Children Hospital tested Kaila just about every week for everything they could imagine. They originally thought she had leukemia, then diagnosed her with children’s mono, and then thought she had leukemia again. Kaila’s spleen and liver were extremely large, and her cholesterol and triglyceride levels hovered between 400-500 mg/DL.
Researching Kaila’s symptoms on the internet, my wife and I came across Niemann-Pick disease on a website. The symptoms matched our daughter’s symptoms and we asked the doctors to test for the disease. At the same time, we had our genetics tested. Three weeks later the doctor’s told us they thought Kaila had Niemann-Pick Type B (A was ruled out because she was alive) and she was the first case in the hospital’s history. The doctors literally handed us a piece of paper with numbers to call and stated they were not sure of the next steps. Immediately after we received the diagnosis, the genetics organization called telling my wife she carried the Niemann-Pick Type B gene and I carried the Niemann-Pick Type A gene.
What were the first steps you took after diagnosis?
We called the numbers on the piece of paper. One was a number to an individual who was affiliated with the hospital and worked at Genzyme. He had co-authored a few papers on Niemann-Pick Type B. The other number we called was the number to the NNPDF.
Genzyme almost immediately invited us into their office, as Kaila was the first known case in Massachusetts, and we lived a few miles from the office. Genzyme provided us a background on the disease and their hope for a treatment.
How did you learn about NNPDF?
The doctors at the hospital provided us the director of the NNPDF’s phone number. We spoke with the NNPDF director for about an hour and also joined the Facebook page.
What caused you to get involved with NNPDF initially and how has being an NNPDF member benefitted your family?
We really wanted to push hard for a treatment and the thought the best path forward was through the foundation. Additionally, the foundation gave us an opportunity to meet other families and help other families, where possible, as much as we possibly could.
Further, the NNPDF has provided us an opportunity to speak with the FDA in-person to express the need for a treatment. I think that conversation and providing our experience with ASMD will hopefully go a long way in getting the treatment across the finish line.
What impact has ASMD had on your life?
I think it brought us closer as a family. Definitely ended up spending a lot of nights together traveling and staying in crammed New York City hotel rooms. It also expanded our family, as we adopted a cat near Mt. Sinai hospital.
Additionally, we found an incredible support group of other families, who have become like family members. It has been a wild ride, but I think there is a lot of hope for the future.
What are your hopes for the future for yourself and for the Niemann-Pick community?
Our hope is for everyone in the world to have access to the treatment. Since Kaila began the clinical trial almost 5 years ago, she has transformed into an incredible kid and gymnast. We are keeping our fingers crossed that 2021 will be an amazing year with an FDA approved treatment.