Doctors seek African American bone marrow donors for infant with rare disorder

September 4, 2002

The best chance for a cure for a ten-month-old Chicago area boy may be a bone marrow transplant -- but his doctors have not yet found a compatible donor and are asking the African-American community to help.

Jacob Davis was born with adenosine deaminase (ADA) deficiency, a disorder so rare that he is the only child in the Chicago area with this disease. As few as 10 to 20 people are diagnosed with ADA in the United States each year.

ADA is an unusual variation of severe combined immunodeficiency (SCID) -- better known as the "bubble-boy" disease. Because they are unable to make the enzyme adenosine deaminase, patients with ADA cannot break down a substance that is toxic to parts of the immune system. When this toxin accumulates, it devastates the immune system, destroying the crucial T cells and B cells that protect against many types of infection. This leaves patients extremely susceptible to infection. ADA is one of the most severe forms of SCID.

None of Jacob's siblings is a close enough match to provide bone marrow, so a search is underway to find an unrelated donor through the National Marrow Donor Program (NMDP). The NMDP, however, has a limited number of minority volunteer donors in its database and has not yet found an ideal donor for Jacob.

Although it's possible for an African American patient to match a donor from any racial or ethnic group, the most likely match is another African American. The odds of finding a donor who is immunologically similar to Jacob, or any minority recipient, are reduced by the lack of minorities in the registry. There are 2.5 million Caucasian volunteer potential donors in the NMDP, but only 370,000 African Americans.

The child's caregiver and the NMDP, therefore, are searching for more African-Americans who may be willing to join the national registry as potential donors.

Jacob had a rough start in life. He spent most of his first few months in hospitals, suffering from multiple infections. In May, after hospitalization for an intestinal virus and pneumonia, he was finally diagnosed with ADA by infectious disease specialists at the University of Chicago Children's Hospital (UCCH).

Precise diagnosis led to better treatment. Jacob now receives injections twice a week with
PEG-ADA, a drug developed in 1985 that supplies the missing enzyme. He also receives infusions once a month with immunoglobulins at UCCH.

He has recovered well, regaining some immune function, but a bone marrow transplant is still considered the treatment of choice for his disease.

"He's seems almost like a normal child," says Zina Berryhill, who along with her husband Randy, Sr. care for Jacob. He is still small for his age and faces major restrictions, such as avoiding public settings. Jacob's family is unable to take him to the park, church or shopping. If anyone in the home gets sick, they must leave until they feel well again. But Jacob's medication is working.
"Ray Ray (as the family affectionately calls him) is happier now," the Berryhills note. "He's laughing and playing all the time."

The Berryhills, who have two older boys, six and nine, learned to administer the painful PEG-ADA injections at home. Zina says it's difficult for her to do, but she realizes it's necessary. "The only way I can get through the injections," she states, "is by thinking to myself, 'I'm hurting you, but this is what I have to do if I want you to live with us.'"

Ironically, a transplant may be the least expensive therapy. PEG-ADA, the bioengineered drug used to treat adenosine deaminase deficiency, costs more than $100,000 a year. That cost will increase as he grows and needs larger doses. The manufacturer has discounted the medicine for Jacob and the Illinois Department of Public Aid has agreed, for the first time, to pay for the drug -- but only for one year.

"These injections and infusions are necessary for this child to stay healthy," said Barbara Hendrickson, M.D., an associate professor of pediatrics at University of Chicago, who specializes in immunodeficiency. "They are relatively safe and can restore some of the his immune function, but not all. A bone marrow transplant carries greater risk, but is potentially curative."

The only other option is gene therapy. ADA was the first disease treated with gene therapy, but the initial trials were not effective enough for the patients to discontinue their PEG-ADA injections. A small recent study from Italy reported better results, but gene therapy for ADA is still considered experimental.

So the search goes on for a better match for Jacob. Until then, Berryhill says all she can do is "pray and try to keep him healthy."

Potential marrow donors must be between the ages of 18 and 60 and in general good health. The testing process takes about 10 minutes. It involves filling out a health questionnaire, signing a consent form to list your tissue type on the NMPD Registry and providing a small blood sample. Volunteers must be willing to donate to any patient who matches them, not just to one designated recipient.

There will be several Chicago area donor drives, offering information and collecting blood:

1. Saturday, August 31st, 11am-5pm
Christ Centered Ministries, 1211 S. Western Ave., Chicago
2. Sunday, September 8th, 11:15am-3:15pm
Alpha Missionary Baptist, 240 S. Schmidt, Bolingbrook
3. Saturday, September 14th, 9am-3pm
Huth Middle School, 3718 W. 213th St., Matteson
*Additional donor test dates will be scheduled by LifeSource.

Representatives from Life Source, the bone marrow testing organization in Illinois, will provide information about how to donate and collect blood samples at these drives.

To learn more about becoming a bone marrow donor or to join the national registry, visit http://www.marrow.org/.