After 3 years of marriage, Amanda and Vanessa Burke decided they were ready to try their hand at parenting. The women, who reside in Kent, both faced unstable home lives as children and wanted to help families who were struggling, and kids who needed the security of a stable home. In 2014 they made the decision to become foster parents.
“We knew fostering could eventually lead to adoption if we chose that path,” said Amanda.
In 2015, a 2-day-old baby named Jaylynn came to their home, followed five months later by baby Maya who was surrendered under Ohio’s Safe Haven law. In June 2017, Jaylynn’s half-brother, Jett, was born into the foster system and Amanda and Vanessa agreed to foster him. They have since adopted all 3 children.
“Jett, now 2 years old, was born with a few issues,” Amanda said. “He was low birth weight, going through nicotine withdrawal and failed his hearing screens, but he wasn’t presenting as sick.”
Vanessa says at first sight they noticed he had ear deformities and an odd-shaped cone head – a trait often associated with newborns who have traveled through the birth canal. However, the experienced moms weren’t terribly concerned about their new bundle of joy.
Something wasn’t right
“Once we got him home we noticed Jett was feeding differently than our girls had when they were babies and he coughed, sneezed and fussed a lot,” said Amanda. “He would aspirate food into his lungs and his heart rate and oxygen would drop when he ate.”
When Jett was 6 weeks old the moms started working with the feeding team at Akron Children’s. But even while working with many specialists, Jett wasn’t getting better.
“Deep down we knew something was wrong, but getting to the bottom of it was always put on the back burner while we dealt with what was acutely wrong – like him not being able to breathe,” said Vanessa, referring to his many respiratory infections and hospitalizations for aspiration pneumonia.
“It took Jett forever to reach 6 pounds,” Amanda added. “We were in the hospital every month for weeks at a time. At one point he had RSV, pneumonia and 3 other viruses. We truly thought he was going to die.”
During this time Jett was still in the foster care system so Amanda and Vanessa had to push Children’s Services for more testing.
“We were finally able to get a nurse practitioner assigned to us through Children Services to train us on some of his medical issues,” said Vanessa. “She ultimately helped us organize all of his symptoms, appointments and our concerns so we could all get on the same page as to what he needed to keep him safe.”
Getting a diagnosis
“She really listened to us and wrote down everything we said,” said Vanessa. “It was the providers at Locust Pediatrics who asked infectious disease to consult on Jett’s case. They requested additional testing from geneticist, Dr. Carrie Costin, which eventually led to a diagnosis of Multiple Sulfatase Deficiency when Jett was 9 months old.
Multiple Sulfatase Deficiency, or MSD, is an extremely rare hereditary metabolic disorder where all the known sulfatase enzymes are deficient.
“All the enzymes in Jett’s body that are supposed to break down cellular waste don’t work,” said Amanda. “Nothing inside him works to clean out his body’s waste which builds up and becomes toxic to his organs. Kids with MSD generally have a life expectancy of less than 10 years.”
Once the family got the diagnosis, they connected with specialists at Children’s Hospital of Philadelphia (CHOP).
“Because MSD is so rare, not many physicians know about it,” said Vanessa. “CHOP is one of the few places that has participated in MSD research and seen patients with it.”
“Jett’s disease progression has been so well documented by us and his doctor’s at Akron Children’s it is helping the specialists at CHOP create a natural history study of the disease,” said Amanda. “Jett is helping researchers better understand MSD.”
Jett currently sees 13 different specialists at Akron Children’s – including palliative care. He requires around-the-clock monitoring because his condition can deteriorate quickly and become painful.
“He gets a lot of chronic ear infections from the toxin build up,” said Amanda. “The toxins interrupt brain signals so he has trouble swallowing. And, since his muscles can’t relax, he gets a lot of spasms.”
Jett also suffers from asthma, acid reflux, sensory issues and ichthyosis (a family of 20 skin conditions that leads to chronically dry skin). But, even with all his health setbacks, his moms say he’s a pretty awesome kid.
“We didn’t think he would walk or talk,” said Amanda. “He used to be able to say ‘mom’ or ‘I did that’, but now he only says ‘yeah.’ However, Jett has no trouble voicing his opinion or getting what he wants in ways other than speaking. He knows how to communicate and turn on the charm.”
Vanessa and Amanda have become close with Jett’s biological father, Tyrin, who didn’t know Jett existed until he was 3 months old.
“He never misses a chance to see Jett and clearly loves him,” said Amanda. “Jett is loved by so many – from his first family, to his forever family, to his nurses, to his medical providers.”
Working hard at therapy
Jett regularly attends physical and occupational therapy as well as therapy for speech and feeding.
“He learned to walk and talk because he works hard in his therapies,” said Amanda. “The disease is slowly taking that away from him.”
“His therapists work with him on large and small motor skills,” said Vanessa. “He used to be able to go for an hour but has less stamina these days and can only go for about 20 minutes. It wipes him out.”
Jett can take small amounts of honey thick liquids by mouth and dissolvable solids (cheese puffs are a favorite), but he is mostly tube fed to avoid aspiration.
“If he gets constipated, he declines rapidly because his digestive system plays a large part in his ability to function,” Vanessa said.
Advocacy and research of MSD
The Burkes are active in the United MSD Foundation helping to fundraise for research and clinical trials. Amanda recently joined their board of directors. They use the hashtag #ReadySetSaveJett on Facebook and Instagram pages chronicling Jett’s journey.
“As soon as Jett was diagnosed, I wanted to learn as much as I could. I reached out to the foundation and other families,” said Amanda. “I’m in touch with a mom in Germany whose 11-year-old has MSD, another family with 3 kids who all have it, and a mom in California who lost her 18-month-old to the disease a year ago. She regularly checks in on Jett, even while living with the pain of losing her own son. It’s amazing how much these other families feel like our family.”
While there is no treatment for MSD, the foundation is trying to help fund a FDA-approved clinical trial on gene replacement therapy. They are currently a third of the way to their $1 million goal.
“We hope in the next year the trial will start and change the world,” said Amanda. “We have to make it happen or every kid with this disease will die. We hope the treatment makes it to Jett in time, but if it doesn’t, we know his life is leading to other families and children like him not having to endure the same pain or go through the same struggles he has.”
Jett is exceptional in many ways. Not only did he have a 1 in a million chance of getting the rare auto recessive disorder, he is only 1 in 20 kids in the U.S. who has it. When Jett tested positive for MSD, the Mayo Clinic asked him to donate urine (lovingly referred to as ‘magic pee’ by his moms) to be used as a control sample for others being tested for the disease. He also donated blood to CHOP in order to help them conduct research on existing drugs to see if anything already FDA approved can alter enzyme function.
“He’s a rare gem for sure,” said Amanda. “He is helping to blaze the trail for the future of MSD. Through all his issues, he is such a good-natured human. He makes us laugh daily, and the pain of possibly losing him is often masked because he brings such joy to everyone he encounters.”