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Young boy with CHARGE syndrome awaits approval for rare transplant

June 30, 2019 | 3:18 am

Updated June 29, 2019 | 10:03 am

Cooper McElvain was born on Feb. 18, 2018 and soon diagnosed with CHARGE Syndrome. | Photo contributed by Allison McElvain

Cooper McElvain’s mother says he has so many reasons to be unhappy, “yet he is a ray of sunshine with a spunky attitude.” He loves lights, disco balls and watching fireworks on YouTube.

Cooper was born on Feb. 18, 2018, after what seemed like a typical pregnancy. Allison said that all of the ultrasounds looked normal and his anatomy scan didn’t reveal anything alarming, but when he was unable to breathe on his own, he was intubated, later presenting with some endocrine issues.

Unable to be extubated, Cooper was life-flighted to Norton Children’s Hospital in Louisville the next day.

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“Within the first few days we had a clinical CHARGE syndrome diagnosis and weeks later blood tests did confirm the CHD7 gene mutation that is consistent with CHARGE,” Allison said.

CHARGE, is an abbreviation for several features that are common in the disorder: Colobomas of the eye, Heart defects, Atresia, Retardation of growth and development, Genital and urinary abnormalities and Ear anomalies. However, Allison said, it is multifaceted and each child with the syndrome is “wildly different.”

Cooper is affected by each of the “letters,” which is characteristic of the syndrome.

“He has bilateral colobomas of the optic nerve causing him to have extremely low vision, two mild and one moderate heart defect, bilateral choanal atresia [the reason for his tracheotomy], undetected growth hormones that have played a huge role in his physical growth and development, and he has profound hearing loss,” Allison said.

But more than that, Cooper has severe combined immunodeficiency, meaning he is within 1 percent of children diagnosed with thymic aplasia.

“This means he is missing the thymus gland that produces the viral fighting T cells,” Allison said. “Life expectancy without a thymus is 2 years old.”

And this is why Cooper’s parents, Allison and Wayne, are fighting so hard to get Cooper an experimental thymus transplant at Duke University’s Children’s Hospital in North Carolina. It is the only U.S. medical center which offers this type of transplantation.

“This is the only treatment for thymic aplasia,” Allison said. “Thymus transplantation isn’t currently FDA approved, which makes the entire process tricky.”

According to Duke’s website on Thymus transplantation, thin slices of thymus tissue taken from an infant with a thymus who requires heart surgery (after permission is obtained from the infant’s parents). The donor thymus is then implanted into the thigh muscle of the infant born without a thymus, and if successful, the recipient develops T cells that can fight infections in about six to nine months.

Since 1992, less than 100 transplants have been done, and insurance companies typically don’t cover non-FDA approved treatments, but the Duke team and Cooper’s doctors can file an appeal, which hopefully will be authorized.

In order to be accepted for a transplant, a review committee at Duke determines whether a child is a candidate for the transplant, and the McElvain family recently found out that Cooper will be reviewed in July.

Until then, 16-month old Cooper continues his life within the four walls of his home.

“He loves the feel the breeze outside, but doesn’t like the brightness of the natural sunlight,” Allison said. “He [also] loves to go on car rides.”

Due to isolation protocols, Cooper hasn’t been able to meet a lot of the family yet, but Allison’s sisters cover his respite hours, and one of them is full-time, thanks to an approval for full-time respite care.

“My sister is with us 40 hours a week while my husband is at work,” Allison said. “Cooper’s airway requires extremely frequent suctioning so someone has to be able to monitor him around the clock.”

After bringing home the rhinovirus last year, their older son, Chance, was allowed to finish high school from home to protect Cooper’s life. Wayne is the only one who leaves the house and he works with a small group of people who understand and respect the risk he takes to provide for the family, according to Allison.

“Cooper has a long road ahead of him, with many surgeries having to wait until after his thymus transplant,” Allison said.

All of the treatments Cooper has received have been deemed medically necessary, and Allison said that his pediatrician, Dr. Jeremiah Mason, and the nurses at Owensboro Pediatrics “go above and beyond” for the family.

“The hardest part for us is the constant travel to see specialists [in Cincinnati and Louisville] since Owensboro lacks a variety of pediatric specialists,” Allison said, adding that the Emergency Department at Owensboro Health Regional Hospital will see him, “but they don’t feel comfortable with having him inpatient.”

Allison is optimistic about Cooper’s prognosis if he is approved for the transplant, and said that all aspects of his health can be treated.

“His vision and hearing won’t improve, but we’re working to maximize what the Lord has given him,” Allison said. “His immunodeficiency can be treated with the transplant, and his airway is a work in progress, but we’ve seen improvements already.”

Allison has become an advocate for Cooper and said the family constantly worries when they are in public that they may bring something home that is fatal to Cooper.

Until Cooper’s case goes before the review board, his parents will still enjoy hearing Cooper laugh hysterically when hands are moved in front of his face or when he is tickled.

“He recently has started to wave and loves to steal our glasses,” Allison said.

June 30, 2019 | 3:18 am

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