Meet Lyla Edgington. Lyla was first diagnosed with Hurler Syndrome (MPS Type I) on April 4th, 2016 when she was just 7 months old. Her doctors said she needed a stem cell transplant and that cord blood would give her the best chances at overcoming this life-threatening genetic disorder.
Lyla’s doctors and parents began to worry when their pediatrician, Dr. Katherine Lichtsinn at Scottsdale Children’s Group noticed a heart murmur during her 4 month check-up. Returning for another check-up at 6 months, Helen, Lyla’s mother, pointed out a sharp curve in Lyla’s spine that she had noticed. It was then that her doctor suspected a possible genetic disorder and referred them to a specialist at Phoenix Children’s Hospital.
In Phoenix, Lyla underwent numerous blood tests hoping to rule out MPS. Unfortunately, this would not be the case. Not only were their fears confirmed but the medical team concluded that Lyla had the most severe form of the disease, MPS Type 1, better known as Hurler Syndrome or Hurler’s disease.
Helen was devastated, and worse, she felt responsible even though there was nothing she could have done differently. She and her husband, Steve, had given birth to a beautiful little girl. She was perfect in every way. Hundreds of questions came pouring through the emotions as they wondered “Why us?”
Helen still remembers those initial hours, “As a parent your duty is to protect your child and I had failed within the first moments she was created. I passed on a defective gene that would cripple her body, deteriorate her brain, and end her precious life after it had barely begun. I held my beautiful 7 month old daughter so tight. I sobbed because I couldn’t bear to watch her smile fade away and her energy disappear day by day over the next couple years. It wasn’t possible. Lyla was too perfect, she had too much personality, she was too smart, and she could already throw a tennis ball so well. But at that moment… Lyla was still Lyla and I couldn’t help but smile when she did and enjoy every moment with her. Everything had changed but nothing had changed.”
Right away, Dr. Kristin Lindstrom at the Phoenix Children’s Hospital recommended a stem cell transplant. Initially, they thought this meant a bone marrow transplant and Dr. Lindstrom referred them to Dr. Paul Orchard at the University of Minnesota. Dr. Orchard explained that transplants for MPS patients have greatly improved over the last several years. He explained that cord blood could be the best choice for Lyla and give her the best chances for a successful transplant.
The goal was not simple. In order to be successful, the transplant needed to rid Lyla’s body of her own cells (because they were genetically faulty) and replace her cells with healthy new ones. Although the actual transplant lasts only a few minutes, the whole healing process would be quite long and span several months.
Helen and Steve were encouraged by this possible treatment and agreed that this was their best option for young Lyla. The wheels were put in motion. They would go to Minnesota for treatment. Lyla’s parents received approval from insurance and doctors began to search for a donor. It was a race against the clock as the disease was constantly working against them, deteriorating brain cells. Luckily, a match was found and it was a perfect 6 out of 6 match! The transplant date was set for July 25th, 2016.
The procedure lasted 25 minutes and was much like a typical blood transfusion. In accordance with donor rules, Lyla’s parents were not told where the donor was born or the identity of the generous family. They only know that the donated cord blood came from a little girl born in May 2013. She could be from anywhere in the world.
Hurler Syndrome is a progressive genetic disease. If you don’t treat it, it will gradually cause severe physical and mental damage. Lyla’s parents knew this and this is why timing was so crucial in her case. Luckily, Lyla was diagnosed early and did not have too much damage prior to the transplant. This meant her chances were good. However, because of the nature of the disorder, Lyla’s parents and doctors were not expecting to see major improvements necessarily in her mental and physical functions but what they hoped was that the progression of the disorder would stop. The goal was to stop the disorder from becoming worse. Questions remained as to if some damage would continue to occur following transplant or would the transplant be effective immediately?
The first few weeks after the transplant were really difficult because of the impact of the chemotherapy. Lyla suffered from low energy and clearly her spirits were down. However, after the first month, doctors confirmed that the transplant had fully engrafted (the donor cells had been accepted by her body). Success! From there it is was smooth sailing. . . she returned to being a happy girl most of the time while living under constant medical supervision (remember, she was not even a year old at the time).
When discussing stem cell transplants, doctors often refer to the “first 100 days.” Although not always applicable to every case, this milestone often indicates whether a transplant has been “successful” or not. In Lyla’s case, she was doing great and around day +95 her parents started preparing for their flight home. Then, the phone rang. Lyla’s blood tests came back with issues.
Lyla’s parents explained, “The transplant worked but for some unknown reason the new white cells were creating antibodies against the new platelets and red blood cells. Lyla’s immune system needed to be wiped out again to kill the antibodies and we had to hope the new ones wouldn’t do the same thing. This was a huge bump in the road for us and really tore down our spirits. It took another very long 5 months of Lyla on high dose steriods, tons of infusions, very little sleep, and at a huge risk for infection but luckily it worked and the bad antibodies didn’t return! Overall, it took a full 9 months after transplant to know that it was an overwhelming success.”
Success. What a magic word! Success. This word meant hope to the Edgingtons. Success, meant their daughter might beat the odds. Success meant life and quality of life!
Today, the Edgingtons are just starting to turn the corner on this battle but they have been very encouraged by the results. The transplant worked and despite some complications around day 95, it appears that the transplant stopped damage caused by the disorder almost immediately. Based on various tests, Lyla did not experience any further damage post-transplant.
“She is developmentally on track,
so we feel confident the transplant
stopped damage to her brain,”
says Lyla’s mother.
Her parents realize how lucky they are. The stars aligned for Lyla. She had excellent doctors. She had a 6 out 6 stem cell match, thanks to cord blood. She had pro-active parents and grandparents who did everything they could to help her. In the end, it literally took everyone but they have been fortunate in many ways.
Looking to the future, we asked Helen what advice she has for parents, health professionals and even students interested in pursuing STEM careers with an interest in cord blood.
My advice for parents is to never ignore anything that seems odd about your baby. It took me a month or so to mention the curve in Lyla’s spine because I thought it could have been a normal baby thing or something she would grow out of.
For Health Professionals:
My advice for health professionals, is to continue to do the amazing work you’re doing and saving so many lives! I have so much appreciation for the medical field and doctors who devote their life to finding cures to all the horrible diseases out there. It’s truly incredible!!
For STEM Students:
For students, I encourage you to use your social media skills and networks to help raise awareness for cord blood donation and it’s amazing benefits!
In honor of Lyla’s donor and to help build awareness for MPS / Hurler Syndrome as well as the need for cord blood donors, Helen and Steve have created a beautiful video detailing Lyla’s story. Watch it here:
Make a difference in your community.
Join us for World Cord Blood Day on November 15th, 2017!
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