Julián Morales wants to be a normal 6-year-old, like the ones who play outside in his neighborhood, who run around in school and who can go to friends’ birthday parties — without his mother always fearing the worst.
The Homestead child looks like any other, but he suffers from Zinsser-Cole-Engman syndrome, a rare congenital disorder that affects his bone marrow and can easily make him bleed to death.
The syndrome affects only one in one million people and victims have a life expectancy of 30 years.
Trying to safeguard his life, Julián’s parents have been desperately seeking a compatible bone marrow donor for the past year. But they have not found one within the family or the 17 million potential donors registered with the national Be The Match list.
Unlike other diseases, 70 percent of the patients with Zinsser-Cole-Engman syndrome are not compatible with relatives, said Malena Laughlin, the organization’s South Florida representative.
Laughlin said ethnic background is important in bone marrow donations because they involve inherited antigens. Julián’s Hispanic background has made the search for a donor match more difficult.
Only 10 percent of the people on the national donor registry are Hispanic, Laughlin said in a telephone interview. “What’s more, the more ethnic mixes you have, the more difficult it is to find a compatible donor. We Hispanics are mixes of many things,” she said.
Without a matching donor, Julián’s life will become increasingly difficult and he could develop cancer.
“I want to see him with his first girlfriend, his first car, at his graduation, starting a family,” said his mother, Mayra Morales. “It’s terrifying that he may not get there.”
HOW TO HELP
To help Julián or any other patient who needs a transplant, potential donors should register with Be The Match at https://join.bethematch.org/saveJulián. It is recommended that volunteers be 18 to 44 years old and in good health.
Undocumented immigrants should not be afraid of registering because the process does not ask for immigration status, and the information will not be shared outside the organization.
“This information is confidential,” Laughlin said.
Once the online registration is completed, volunteers will be mailed two cotton swabs, to be used to wipe their mouths, put them in another envelope and return them by mail according to the instructions included.
Volunteers are notified later if they are compatible, with Julián or any other person who needs a donor.
The process can take years, and Laughlin said she registered eight years ago but neither she nor her children have yet to be matched with anyone.
Volunteers who appear to match are asked for blood samples to confirm the compatibility and later undergo medical exams — paid by the organization — to evaluate their health. The next step is the procedure.
Most of the bone marrow donations are made through simple blood transfusions, with machines that capture stem cells. “The donor replaces them in a natural way in four to six weeks,” Laughlin said.
Others are performed in hospitals, under general or local anesthesia, in a procedure that uses needles to extract the material from the hip bones.
The doctor in charge of the procedure determines which of the two methods is best for the receiver and should be used.
Potential donors can change their minds at any moment, but Laughlin said the decision to register as a potential donor should be taken seriously.
“There’s nothing more painful for a family than to know that there’s someone who is compatible, but who says no,” she said.
THE SEARCH FOR A DIAGNOSIS
When Julián was just a few months old, his mother, who graduated from nursing school, began to suspect there was something wrong. But every time she took him to the doctor she heard the same words: The boy is fine.
Her maternal intuition pushed her to take the boy to several other doctors. One diagnosed Julián as suffering from Benign migratory glossitis, also known as Geographic Tongue.
After she noticed that her 1-year-old child’s skin was yellow, another doctor told her he needed sunlight. “I put him by the window so he could get some sun,” Morales said. But that did not help.
At the age of 3, a doctor looked at a blood sample and said the boy might have cancer, said the mother, who was born in Mexico but was brought to the United States when she was 6 months old.
Further medical exams ruled out cancer but confirmed he had some sort of blood disease.
Desperate, Morales and her family went to Boston to see several specialists. “Finally, at the age of 3, they told us what the boy has — Zinsser-Cole-Engman syndrome.”
Follow Johanna A. Álvarez on Twitter: @jalvarez8.
For more information about bone marrow donations or about the organization Be The Match, email Malena Laughlin at firstname.lastname@example.org.