GENESEO — Trevor Schefsky’s battle of a rare genetic condition began at birth. Now a sophomore at Geneseo High School, that battle likely will make him miss the start of his high school junior year.
Mr. Schefsky, along with his parents, Tony and Lori Schefsky, and hsi brother, Zach, are at the Children’s Hospital in Cincinnati, Ohio, where he is scheduled to receive a bone marrow transplant later this month.
Before that happens, he will undergo chemotherapy to destroy the damaged cells in his bone marrow. Mrs. Schefsky said the process takes four to six months, keeping her son hospitalized until at least July.
His condition, DADA2, is a recessive genetic condition that causes mutations in the CECR1 gene preventing it from correctly encoding the enzyme Adenosine Deaminase 2 (ADA2) that stabilizes the lining of blood vessels.
“Without it, the body attacks its own healthy cells, which, in turn, leads to inflammation, immune deficiency, organ damage and the destruction of bone marrow,” Mrs. Schefsky said.
There is no enzyme replacement therapy available for ADA2 deficiency. Because little is known about the disease, there are relatively few treatments, Mrs. Schefsky said.
Trevor’s journey began shortly after his birth. Until he was 5 years old, his mother said, he suffered from rashes, hives, swollen eyes, high fevers, asthma, pneumonia, joint pain, mouth sores, allergic reactions to antibiotics and his legs “giving out.” She said it is believed he was in remission between the ages of 5 and 12.
“When Trevor was in seventh grade, he had a swollen lymph node in his neck, so we went to our family doctor,” she said. “They did blood work and Trevor’s white blood cells and absolute neutrophils were alarmingly low. We were put in the hands of St. Jude in Peoria.”
Because of his blood levels, he couldn’t attend school and be in public places. He went though many tests in search of a diagnosis; although doctors determined his illness was related to his immune system, no single cause of his illness was found.
He was referred to an immunologist at the Children’s Hospital in Cincinnati, Ohio, where they also did many tests — but reached no diagnosis.
“However, they were treating the low levels he had with infusions,” Mrs. Schefsky said. “As the infusions and medications have never helped with his numbers coming up, they have prevented him from illnesses.”
Trevor could return to school as an eighth-grader, but was not allowed to play soccer, his favorite sport. He also couldn’t snow ski, play basketball or participate in any contact sports because of an enlarged spleen.
“That was a very hard year for Trevor,” Mrs. Schefsky said. “He lived his life with monthly infusions and daily medications and weekly blood work that showed to always be low. He was hospitalized in Peoria anytime he would run a fever of 99.6 or above.
“Our lives went on hold in the blink of an eye,” she said. “We lived our lives as normal as possible. Trevor was rarely sick and he didn’t like his life being on hold.
“We were able to get soccer approved with a spleen guard,” she said. “He was feeling like life was semi-normal.”
Trevor was selected for a research study at the Children’s Hospital in Cincinnati. About a year later, the family received a phone call with a diagnosis: DADA2.
“No one seems to know very much, but more is being learned every day,” Mrs. Schefsky said.
In November 2016, the family went to Washington, D.C., for the first-ever conference on the disease. They were able to meet families going through the same thing as they were, and the doctors working on a cure.
Mrs. Schefsky said Trevor has reached a point where medications and infusions are not raising his levels.
“His bone marrow is at 40 percent, so we cannot wait any longer,” she said. “It is time for a bone marrow transplant, which will hopefully be a cure for Trevor.
“In all of this — with other hardships and losses — our faith has kept us going and I have always felt God is with us,” she said. “I do not believe God gives us these hard times in our life, but I do completely believe that God is with us in these hard times. He is there in our doctors and, with as rare as a condition that Trevor has, it is a complete miracle that we have a diagnosis at all.
“God is good all the time,” she said. “All the time, God is good.”
Mrs. Schefsky hopes their story encourages others to learn more about DADA2 by visiting dada.org. “TrevStrong” T-shirts also are being sold to support Trevor’s journey.
The T-shirts include scripture from Joshua 1:19 on the back: “Be strong and courageous. Do not be afraid; do not be discouraged, for the Lord your God will be with you wherever you go.”
Shirts may be ordered at firstname.lastname@example.org. Contributions to TrevStrong may be mailed to Central Bank, 101 N. State St., Geneseo, IL 61254, made out to TrevStrong with “Schefsky” in the check memo line.