CFC-funded agency helps Tinker family cope with rare syndrome

Diagnosed with the rare Williams Syndrome, Brandon Freimann depends on the CFC to provide the funds for much-needed information about his disease to doctors. (Photo by Margo Wright)

When a Tinker employee found herself with a newborn diagnosed with a rare disease even her doctor hadn’t heard about, she said she felt like there was nowhere to turn. But with some support from her B-1 Bomber co-workers and a life-changing experience with a Combined Federal Campaign agency, things are finally looking up.

Randi Freimann, B-1B avionics item manager, gave birth to a son in March. Nothing seemed out of the ordinary until she and her husband, Charles, a production material technician in the Maintenance Material Support Division, took Brandon to the pediatrician for a routine checkup, which revealed a heart murmur.

“They sent us to see a cardiologist who immediately saw the problem, but did not tell us what it was,” said Randi Freimann. “We were told the pediatrician would call us and explain the results. We didn’t know how bad it was. When we went to see the pediatrician the next day she told us that Brandon had aortic stenosis and pulmonary stenosis.”

Aortic stenosis is a narrowing of the aortic heart valve and pulmonary stenosis is a narrowing of the pulmonary valve. If the conditions worsen, surgery is usually required.

The doctors told the Freimanns that it was possible Brandon had Williams Syndrome (WS). “Brandon’s heart conditions, along with his facial features, made WS a probable diagnosis,” Randi said. “They ordered a blood test that eventually confirmed it.”
The syndrome is characterized by the lack of genetic material that makes protein elastin, which provides strength and elasticity to vessel walls.

WS is a rare, congenital disorder that occurs in one in every 20,000 births according to the National Institute of Neurological Disorders and Stroke. Characteristics include heart and blood vessel problems, elevated calcium levels, delayed growth, feeding difficulties, irritability during infancy, dental and kidney abnormalities, sensitive hearing, musculoskeletal problems, an impulsive and outgoing personality, limited spatial skills and motor control, and intellectual disabilities such as developmental delays, learning disorders, mental retardation or attention deficit disorder.

Randi said it took about two-and-a-half weeks for Brandon’s blood test results to come back. “That time period was the hardest for us,” she said. “Once we knew it was positive, we started searching for answers.”

While the disease itself is not fatal, doctors said patients face serious complications and medical problems, prompting the Freimanns to find out everything they could about the disease. That is when her B-1B co-workers came through. Through the B-1 Booster Club and personal donations, Randi received 320 hours of donated leave to care for Brandon, take him to specialists and attend a WS medical convention in California. Randi said she is very thankful for her co-workers’ continued support.

“The Tinker community is always there to lend a helping hand to those in need,” Randi said. “They are so supportive and understanding.

“To be able to go talk to these specialists and have Brandon evaluated by them is just a once in a lifetime opportunity. We’re very grateful for everything Tinker has done for us. They have been a blessing.”

With WS being such a rare disease, Randi said it was difficult to find the information and support she needed to cope. The conference, she said, changed her life. The event was sponsored by the Williams Syndrome Association, which gets some of their funds through the CFC. This year, the CFC donated $10,000 to WSA.

“One thing the WSA does with the money received from the CFC is publish medical materials for parents and caregivers,” Randi said. “We received a lot of material from the conference to give to our doctors on how to treat Brandon. Without them putting on this conference we wouldn’t have this knowledge.”

This was particularly important since many doctors, like Brandon’s, had never seen a WS case in their entire career.

“When my doctor told me they suspected WS, she also added she did not know anything about it, except what she had found in an old medical book of hers,” Randi said. “The WSA has provided medical guidelines that they, in conjunction with the American Academy of Pediatrics, have published to help facilitate care for WS patients.

“This has helped my doctors discover medical problems that may not have been discovered or would have taken years to discover, at least until Brandon could talk and tell us what hurts.”

Armed with this knowledge, the Freimanns teamed up with doctors to treat their son. Now 5-months-old, Brandon is gaining ground through therapy and medication.

The prognosis for Brandon is still uncertain. Some individuals with WS may be able to master self-help skills, complete academic or vocational school, and live in supervised homes or their own, while others may not progress to that level.

“We do not know if Brandon will ever be able to live on his own,” Randi explained. “But we are hopeful.”

Grateful for the agency’s help, Randi has volunteered to serve as the B-1B division representative for the upcoming CFC. “It’s a way to give something back for all of the help and support we’ve received,” Randi said. “I want to make people aware of the WSA and how they have helped Brandon. Brandon couldn’t receive the essential medical care he has without their help.”

According to Elane Peek, Tinker CFC coordinator, the campaign provides all federal employees with the opportunity to improve the quality of life for thousands of people like Brandon. “There are about 1,500 local, national and international agencies that people can contribute to through the CFC,” she said. “These donations can literally change the life of someone in need.”

Last year, the Central Oklahoma Department of Defense campaign here raised more than $1.5 million, well above its goal of $1.1 million. Combined with other CFC chapters across the nation, the total reached a record $224 million in 2001.

“Many of these agencies really count on our federal campaign for the funds to help people,” said Peek. “Every donation, no matter how big or small, can really make a difference.”

This year’s campaign, with a goal of $1.14 million, is set to begin with a kickoff luncheon Oct. 2.