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Sagamore Hills couple 'hopeful' clinical trial will help son with rare medical condition

by Briana Barker | Reporter Published: August 24, 2016 12:00 AM
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Sagamore Hills -- Chelsey and Chris Martin have faced quite a few challenges since they wed in 2009, but the hardest challenge they have faced is one of the most rewarding, Chelsey said.

Chelsey said approximately a year and half after the couple married she wanted to have kids.However, that was about the same time Chelsey was diagnosed with leukemia.

She battled back and beat the cancer and in 2014 she and her husband began fostering children.

The Martins fostered their first infant and was planning to adopt the child, but the baby went back to the mother and Chelsey said she was devastated.

"I told my husband 'I think I would really like to try to get pregnant,'" she said. "I still wanted to be a foster parent but I just really felt like I needed one kid that I know I could keep."

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The couple has since fostered six children and formally adopted one, 6-year-old daughter, La'Nya.

Soon after, Chelsey got pregnant and at 20 weeks, the couple got the first inclination that something was wrong. Chelsey said she went for an ultrasound, which showed the baby's bones were growing much shorter than expected and he had calcification in all his joints.

Chelsey said the doctor told them at that time, she suspected Rhizomelic Chondrodisplaysia Punctata, a terminal and very rare type of dwarfism, and suggested terminating the pregnancy.

RCDP is extremely rare and not much is known. Chelsey said less than 100 kids around the world are living with the genetic disorder. The majority of children pass away before age 2 and if they make it to age 5, they are considered a long-term survivor.

Because RCDP affects all areas of development, along with physical delays, the child's mental capacity does not usually exceed that of a 6-month-old baby, according to Chelsey.

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Chelsey said she and her husband decided to have the baby and joined support groups for parents of RCDP kids, which Chelsey said were "very helpful in letting them know what to expect."

On Nov. 11, 2015, Chelsey delivered a baby boy named Charlie at 5 lbs, 10 oz. She said even changing his diaper was a challenge because his legs were twisted like a pretzel at first and he would cry in pain when being dressed.

"They started physical therapy right away in the Neonatal Intensive Care Unit, and it was gut wrenching to watch because he would just scream through it," Chelsey said. "But they kept telling me this is going to help, this is going to be worth it and everyone was wonderful."

Charlie's needs are great. He is fed through a tube because the risk of aspiration is too great to feed him by mouth. He is vented through a tube because he cannot be burped due to the delicacy of his spinal cord and even has to be held more carefully than most babies.

He cannot leave his home during respiratory virus season from November to April, because respiratory problems are the leading cause of death in infants with RCDP.

Charlie has had two cataract surgeries since his birth, he has to have an MRI every six months and suffers from hydrocephalus -- water on the brain. Chelsey said Charilie will likely need a shunt placed to drain the fluid.

As far as the grim outlook, Chelsey said "We try not to dwell on it, and make every second count."

Charlie got glasses at 3-months-old, which Chelsey said has resulted in big grins from him since he's been able to see.

She said despite the fact that Charlie fails hearing tests, she knows he can hear because he is very responsive to voices and other noises.

Chelsey said her son is a blessing.

"We couldn't ask for a more precious gift," she said through tears. "He is pretty much in pain all the time ... but he is such a trooper and is such a good boy."

Charlie will likely never speak or walk, but there is a window of hope. A clinical trial will begin this fall in Delaware.

In short, RCDP is due to low levels of plasmologen -- a structural compenent of cell membranes -- and the clinical trial will involve a synthetic plasmalogen replacement therapy.

Charlie will be a participant in the trial, which will involve traveling to Delaware every three to six months.

"There is no guarantee this will help, but we are hopeful," Chelsey said adding she feels God has a plan.

 

Briana Barker: 330-541-9432

bbarker@recordpub.com

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