Girl’s bones disappear due to rare disease

KANSAS CITY, Mo. —  The first hint of trouble for Maci Jeffries was some pain in her side.  By the time she went to Children’s Mercy Hospital fourteen months ago, her chest was full of fluid.

“They immediately put a chest tube in and they just started running tests and tests,” says the 12-year-old from Orrick, Mo.

X-rays revealed two of Maci’s ribs had disappeared.  Even more concerning was an image of her spine.

“All the spine here is destroyed on this right side,” points out Dr. Nigel Price, an orthopedic surgeon.

“I was scared and nervous.  I didn’t know what was gonna happen,” says Maci.

Doctors ruled out infection and cancer.  Then a search of medical literature led them to Gorham’s Disease — also called Disappearing Bone Disease.

Lymph vessels in the bone start to grow abnormally and eat up bone.  Fewer than 200 cases of Gorham’s have been reported worldwide.  Dr. Shannon Carpenter, a hematologist, says half of patients die.

“And the worst case scenario is what Maci had which is the fluid around the lung and the spinal instability,” says Dr. Carpenter.

Dr. Price says, “It had the potential to paralyze her so, no question, we had a lot of concerns about her.”

Dr. Carpenter’s job was to stop the lymph vessels from eating up bone.  A first drug didn’t work.  So she tried a pill that’s approved to suppress the immune system in organ transplant recipients.  It worked.  So did a cancer drug in stopping the build-up of fluid.

Maci was stable enough for Dr. Price to fuse her spine and put in rods.  She was in Children’s Mercy Hospital for almost six months.

“But we stayed very strong in our faith.  And we had a lot of support form our community, our church family,” says Shelly Jeffries, Maci’s mother.

This week, Maci returned to the hospital for her last treatment.  Disappearing Bone Disease has disappeared.

“Me going through this might help someone else when they have this disease, too,” says Maci.

“She’s kinda my hero.  I think she’s amazing,” says Dr. Carpenter.

Because of Maci, there’s hope for the next person with this very rare disease.

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