When Basri and Mida Gashi met Ulrich Duffner, MD, in 2018, it marked the beginning of a promising new chapter in their daughter’s health journey.
And the end of an old chapter.
The family’s journey had begun in 2012, when they noticed a small red bump under the left eye of their daughter, Dalina, who was only 2 months old at the time.
“We thought it was a mosquito bite,” Basri said.
A few weeks later the red bump remained. And when Basri and Mida looked closer, they thought it looked a little strange.
“The red area didn’t seem to itch, but Dalina started crying all night long, like she was having nightmares,” Basri said.
In their search for answers, they visited doctors in the US and around the world.
Meanwhile, the red area under Dalina’s eye continued to spread. Red spots appeared around her mouth and cheeks.
In November 2012, her lips were bloated and skin lesions appeared on her fingertips.
With roots in the Republic of Kosovo, the Gashis from Wyoming, Michigan decided to travel back to Kosovo, where they had family.
“I took a job as a truck driver so I could always be flexible with my schedule,” said Basri. “If Dalina had an emergency, I could do my job and be there.”
“We tried to keep our hopes strong, but it was difficult,” said Mida.
Doctors abroad tried different treatments.
“By this time, she had missed years of school,” Basri said. “She would have infusions, try a small dose for two weeks, then increase and increase again. She had stopped growing.”
Despite everything, the Gashis kept hoping they would find answers.
“All we had left was our faith in God,” Basri said.
Whole exome sequencing
When the Gashis returned to the US in 2018, their quest for care brought them close to home.
At Spectrum Health, they met Dr. Duffner, division chief of the pediatric and blood and bone marrow transplant program at Spectrum Health Helen DeVos Children’s Hospital.
Dalina’s ailments were many.
“She had lesions and rashes all over her body that didn’t heal,” said Dr. Duffner. “Her liver was now inflamed, infections causing abscesses in her muscles.
“She developed an intestinal disorder and the steroid treatments she received caused side effects of weakness and poor growth.”
The doctor put together a healthcare team to work with Dalina and her family.
A pediatric rheumatologist at Spectrum Health recommended complete exome sequencing.
This genetic test is one of the most comprehensive types available and capable of identifying important changes in genes.
“Full exome sequencing is increasingly being used to understand what can cause symptoms or disease,” said Dr. Duffner. “It is a genomic technique that compares a patient’s genetic information with the expected result. If a difference, also called a mutation, is found, we can look to see if this change has been described as causing a disease.”
And in Dalina’s case, the genetic test identified something very rare: a C1Q deficiency.
“C1Q is a protein made by our blood cells,” said Dr. Duffner. “It helps us fight infections. It is also how our body gets rid of waste. When it doesn’t work, we build up necrotic cells — and that can trigger autoimmune symptoms.”
The Gashi family finally had some answers.
“We started looking at a bone marrow transplant, although it carries risks,” said Dr. Duffner. “Our team examined medical literature from around the world on patients who had undergone this procedure, and we saw success.”
The Spectrum Health team has been in contact with doctors in Sweden and England to learn more about their experiences with the bone marrow transplant procedure for a C1Q deficiency.
The team tried different treatments the first year to make sure this was the best option.
“Ultimately, the decision was up to the Gashi family, but we felt the benefits outweighed the risks,” said Dr. Duffner.
Doctors met the family to discuss options.
“We didn’t see any changes with the other treatments, so we agreed to continue,” Basri said. “At that point it was in God’s hands.”
The next step: Find a donor match.
No one in the Gashi family was any match for Dalina.
“There are about 29 million bone marrow donors worldwide,” said Dr. Duffner. “We searched a global database.”
They found someone with a 90% match.
“Not perfect, but at 90%, very good,” said Dr. Duffner.
gift of life
Bone marrow donors are the unsung heroes of our world, Basri said.
Receiving a donation is similar to a blood transfusion. For the donor, it is an operation under anesthesia that requires hospitalization for a day. Donors will experience some pain and fatigue that usually subside within a few days.
Doctors admitted Dalina to Helen DeVos Children’s Hospital two weeks before the procedure.
“Dalina had to undergo conditioning chemotherapy,” said Dr. Duffner. “The goal of conditioning is to get rid of the patient’s own bone marrow to make room for that of the donor and to temporarily weaken her immune system so that it would accept the transplant.”
In May 2020, Dalina, then 8, received the bone marrow transplant.
“After transfusion, it takes about 10 days to two weeks for new blood cells to appear,” said Dr. Duffner.
The Gashis watched and waited for a miracle.
And then it came.
Mida wept as she remembered the change in her daughter.
“It was like a dream,” Mida said. ‘I can not explain. All the while we were focused on finding a cure.
“We never let Dalina see us weaken,” she said. “Now we saw her skin clearing up over the next few days and weeks. We saw her hair grow back. She started to grow again.”
Her symptoms started to disappear.
“Sometimes I find myself scared again, and then I look at her to remind myself she’s okay,” Mida said.
Basri also marvels at the changes in Dalina.
“Even if I could give the doctors at Spectrum Health the world to thank them, it wouldn’t be enough,” Basri said. “Dalina and her brother, Andi, Mida and me – we can finally live like a normal family.”
Dalina, now 11, smiles shyly during conversations about her remarkable health journey.
“It feels good to do things,” Dalina said. “I love swimming and I love putting on makeup and going to school.”