On the outside, Lani Walter looks like a normal, healthy 10-year-old girl. “She's a ball of energy,” Lani's mother, Ashley Walter, said in their living room in Lebanon County. “She loves to be active,” her father, Kyle Walter, said. “She loves to swim, she loves to ride her bike, she loves to play with her sister, she loves to run around with her friends in the neighborhood. She's just like any other 10-year-old girl.” But beneath the surface, she's susceptible to all sorts of illnesses. Ashley first noticed something was wrong when Lani was a baby. “When she was about two months old, she had a rash from the top of her head to her feet, she had a full body rash. She started getting sick a lot with respiratory infections,” she said. “She had ear infections, and her ear infections punctured her eardrums a couple of times, and she had tubes in her ears.” Lani has DOCK-8 deficiency, a genetic autoimmune disorder that reduces immune cell production, according to the National Institutes of Health. Within nine months of Lani's eczema starting, more problems began to surface, including food allergies. Her allergies became so severe that she had anaphylaxis and needed an EpiPen. “DOCK-8 helps organize the skeleton inside cells so that cells can talk to other cells and function properly,” said Jennifer Heimal, MD, who works in the Allergy and Immunology department at Children's Hospital of Philadelphia. Lani was one of the first patients to come to her clinic, and she immediately noticed some of the common signs of DOCK-8. “I've seen quite a few patients with DOCK-8 deficiency, and it's a very rare disease,” said Dr. Heimal. “I think Lani is one of five patients that we've diagnosed and transplanted during my time at CHOP.”DOCK-8 is a very rare disease that gradually worsens as children grow up. Children can live relatively normal lives at first, but the disease gradually worsens as they grow up. In children, it can cause sepsis and eventually cancers such as leukemia and lymphoma when they get into their 20s. That's if they live that long. Normal illnesses that most children get over are dangerous for DOCK-8 children. “If someone comes in with a little cold, she gets the same cold and it lasts for six weeks,” Kyle said. “And then she recently got COVID and was hospitalized with COVID. That was really a wake-up call for us.” Lani was hospitalized for six weeks with COVID-19 earlier this year. Her cough still lingers. But there is a cure for DOCK-8. It can be cured with a bone marrow transplant, which is often associated with cancer treatment and sickle cell disease. Ashley and Kyle, along with Lani's 14-year-old sister, Maeli, were tested to see if there was a perfect match. In the end, none were a match. All three were partial matches, and her sister was a 9 out of 10. “It was a really great story, and they told me the story, and I was like, 'Oh, that's great!'” Ashley says. “But 10 out of 10 is the best for bone marrow transplants. If you have a perfect match, you have less complications with the bone marrow transplant.” Frustrated, Ashley turned to social media to encourage people to join the bone marrow donor registry to find a perfect match. “So I posted it on Reddit and it got 6.4 million views,” she said. “And a lot of people who saw that post said, 'I didn't know you could do that.'” While many people know about organ donation, not many know that bone marrow transplants can be done while you're still alive. While the post continues to encourage thousands to sign up, time is running out for Lani. “It seems like there's been an increase in infections this year, and we're more concerned about her,” Dr. Heimal said. “So we decided to go ahead with the transplant this summer.” Starting next week, Ashley will begin the process of donating her bone marrow. Doctors will perform the transplant next month at the National Institutes of Health in Bethesda, Maryland. “As a mother, I'm half a match, and her doctors feel like it's better that way than nine out of 10 matches just because she's related to me,” she said. Ashley is trying to stay positive, but she and her family know how risky all of this is. “It's scary, but we've been thinking about this for a long time,” Dr. Kyle said. “And it's almost surreal that it's going to start happening here in the near future.” “I'm worried, especially because I'm going to be here while my aunt and uncle are in Maryland,” said Lani's sister, Meili. “Lani is so strong, and I don't want to see her weaken. Just being so far away and not being there for her worries me.” Ashley is adamant about making this happen. “We've been trying for two and a half years to get someone on the registry to see if we can finally be a match for her,” she said. “And now we're at the point where we really just can't wait any longer.” For more information on becoming a bone marrow donor, visit nmdp.org.
By all accounts, Lani Walter looks like a typical healthy 10-year-old girl.
“She's just a ball of energy,” Lani's mother, Ashley Walter, said in the living room of their Lebanon County home.
“She loves to be active,” her father, Kyle Walter, said. “She loves to swim, ride her bike, play with her sister, run around with her friends in the neighborhood. She's just like any other 10-year-old girl.”
But beneath the surface, she has a medical condition that makes her susceptible to just about any illness. Ashley first noticed something was wrong when Lani was a baby.
“At about two months old, he developed a rash from head to toe, which developed into a full body rash and he started getting frequent respiratory infections,” she says. “He had several ear infections that punctured his eardrums and he had multiple surgeries to get tubes in his ears.”
Rani is DOCK-8 deficiencyAccording to the National Institutes of Health, it's an inherited autoimmune disease that causes people to produce fewer immune cells.Within nine months of Rani's eczema starting, more problems began to surface, including food allergies.
The symptoms were so severe that I went into anaphylactic shock and needed an EpiPen.
“DOCK-8 organizes the cytoskeleton inside the cell, helping cells talk to other cells and function properly,” said Dr. Jennifer Heimal, of the Department of Allergy and Immunology at Children's Hospital of Philadelphia.
Rani was one of the first patients to come to the clinic and quickly identified some of the common signs of DOCK-8.
“I've seen quite a few patients with DOCK-8 deficiency, which is an extremely rare disease,” Heimal said. “I think Lani is one of five patients that we've diagnosed and treated with a transplant during my time at CHOP.”
DOCK-8 is an extremely rare disease that gradually worsens as a child grows. Children may initially lead relatively normal lives, but the disease gradually worsens as they grow.
In children, it can lead to sepsis and, ultimately, cancers like leukemia and lymphoma when they reach their 20s (whether they survive that or not). Normal illnesses that most kids can outgrow are dangerous for kids with DOCK-8.
“People come in with a cold, they get the same cold, and it stays there for six weeks,” Kyle said. “She was recently hospitalized with COVID-19, and that was a real eye-opener for us.”
Rani was hospitalized for six weeks with COVID-19 earlier this year and still has a persistent cough.
But there is a treatment for DOCK-8: it can be cured through bone marrow transplantation, which is common in cancer treatments and sickle cell disease.
Ashley and Kyle, along with Lani's 14-year-old sister, Meili, were tested to see if either of them was a perfect match.
In the end, none of them matched. All three were partial matches, and my sister got a 9 out of 10.
“It was a really cool story, and they told me the story, and I said, 'Yeah, that's great,'” Ashley said. “But with a bone marrow transplant, if you can get a 10 out of 10, that's great. If it's a perfect match, there are fewer complications with the bone marrow transplant.”
Frustrated, Ashley took to social media to urge people to join the bone marrow donor registry in an effort to find a perfect match.
“So I posted on Reddit, It was viewed 6.4 million times.“And so many people on that post said, 'I didn't know this was possible.' A lot of people know about organ donation, but they don't know you can get a bone marrow transplant while you're still alive,” she said.
While the post continues to drive thousands of sign-ups, the clock is ticking for Rani.
“This year, there seems to be an increase in infections and we are more concerned about her,” Dr. Heimal said, “so we decided to go ahead with the transplant this summer.”
Next week, Ashley will begin the process of donating her bone marrow, and doctors plan to perform the transplant next month at the National Institutes of Health in Bethesda, Maryland.
“As her mother, I'm a half-match and her doctors think that's better than the nine-out-of-10 matches just because she's related to me,” she said.
Ashley is trying to stay positive, but she and her family know how dangerous this all is.
“It's scary, but we've been thinking about this for a long time,” Kyle said, “and it's almost surreal that it's going to start happening here in the near future.”
“I'm worried, especially since I'll be here while my aunt and uncle are in Maryland,” said Lani's sister, Maeli. “Lani is very strong and I don't want to see her weakened. Just being so far away from her and not being there for her makes me worried.”
Ashley is determined to make this happen.
“We've been searching for two and a half years to find a good fit for her to join the registry,” she said, “and now we've reached the point where we just can't wait any longer.”
For more information on becoming a bone marrow donor, source.
