An Ahwatukee family is in dire need of financial help from the community and beyond as two of their three young daughters are battling an extremely rare and highly-aggressive brain disease.
Olivia Riley, 2, and her infant sister Keira, who turns 6 months old July 9, are the younger daughters of Ahwatukee residents Dave and Kendra Riley who also have a 5-year-old daughter, Eva.
Both Olivia and Keira have been diagnosed with metachromatic leukodystrophy (MLD), a genetic brain disease that has no cure.
Treatment is not available locally and funds are being raised to help the family as they move to Italy, hopefully together, to seek treatment for Keira while pursuing weekly treatments for Olivia in France.
Heartbreaking as all of this is, what adds even more poignancy is that this is a genetic disease.
Neither parent was aware they were carriers, and in fact had gone through DNA testing before having children to minimize the risk of any inherited disease.
“Dave and I were devastated,” said Kendra. “It was beyond frustrating to look back on that test and see the ‘Negative’ result for MLD. We now know they only test the five most prevalent gene mutations that lead to MLD, even though there are many more.”
“If there is one thing we hope to help change for new parents in the future it is expanding the scope of genetic testing for leukodystrophies,” she added. “No parent should ever have to see their child suffer in this way and have to say goodbye to them so soon.”
It was just last November when the Rileys noticed Olivia having difficulty walking and then observed an odd vibration in the iris of one eye.
Their pediatrician referred them to an ophthalmologist, who suggested an MRI that revealed vanishing white matter in her brain.
That led to a neurologist who suggested “it was nothing” and advised them to come back in a year.
The couple instead researched other doctors and eventually discovered Dr. Vinodh Narayanan and Arizona Pediatric Neurology & Neurogenetics Associates.
Narayanan confirmed it was MLD, which has the heartbreaking description of being an “extremely rare and fatal brain disease” that destroys the protective fatty layer surrounding the nerves in the central nervous system, aggressively taking away motor function and other abilities.
After receiving Olivia’s diagnosis, David and Kendra Riley had their other two daughters tested.
As COVID-19 barreled in on the world, drastically slowing all medical issues including test results, they waited anxiously for an answer.
Just last month they finally received the results.
Like her parents, Eva is a carrier and will be unaffected by the disease.
Their baby, however, was diagnosed with MLD.
“When symptoms show early in life, such as in Olivia’s case, most children aren’t expected to live past 4-6 years old,” said Kendra.
She said Olivia’s MLD has progressed so that she’s lost her vocabulary, can’t pronounce most words, has difficulty walking and experiences “moderate to severe” pain on a daily basis.
“Keira, however, is not symptomatic yet, and we must act quickly to save her life,” her mother.
It’s already been a long haul for the couple who, while waiting on the genetic testing for their other two daughters, learned that the only clinical trial in the world for MLD treatment of symptomatic patients is in Iowa.
“This treatment is not curative. It can’t reverse damage already done. The goal is to slow the rapid progression of the disease and protect and preserve her quality of life for as long as possible,” Kendra explained.
A port was successfully installed surgically, and since May, the family has traveled to Iowa City every Thursday through Sunday so doctors can administer the medicine to the 2-year-old.
“So far, we haven’t seen a difference, but we’re hopeful it will slow the disease down so we have more time with her,” Kendra said.
And now there’s an even longer journey necessitated to help assure their infant daughter has a better prognosis.
“The only treatment which can save Keira is known as gene therapy, and it’s only available in Milan, Italy,” explained Daniel “DJ” Riley, David’s brother.
DJ and his wife Nina started a GoFundMe page to augment the fundraising campaign of the nonprofit Ahwatukee-based Armer Foundation for Kids.
“Our goal is to help them raise $500,000 by the end of July. This would cover Keira’s treatment, as well as travel and lodging for the whole family during the five months they would have to stay in Italy,” he said.
“The whole family will move to Italy,” he added. “However, the treatment for Olivia is not available in Milan so this means that every week, one of them will have to travel with her to a city where treatment is available, possibly Paris.”
“We must also get Olivia’s treatments transferred to Europe and make sure that our insurance will provide us coverage during our stay so that any medical needs the rest of us have during our time there will be covered,” Kendra added.
The parents agree that even the prospect of the gene therapy treatment in Milan was an unexpected boon. Their initial query found the clinical trial was fully enrolled with no new patients being added.
“They accepted Keira for treatment but only on ‘compassionate use’ basis. That means we will have to pay out of pocket for our family to move to Italy for five months for Keira to receive the treatment,” said Kendra.
She added that since the beginning of the MLD treatment in 2010, the San Raffaele-Telethon Institute for Gene Therapy in Milan has treated 29 patients from around the world, 26 of whom are still alive.
“The children who have received this treatment are currently walking, running, playing games and going to school – a normal life that Olivia will never experience. But Keira could because she’s currently asymptomatic and eligible for the therapy,” said Kendra.
“While we know our time with Livvy is limited, we have so much hope for Keira because of this treatment and want to do everything we can to give Eva, and ourselves, as many happy memories as we can with her sisters.”
In addition to facing the stresses of the coronavirus pandemic, the medical hurdles faced by Olivia and Keira, the weekly treks to Iowa, the resulting expense, the Rileys are trying to ensure they can face this newest challenge in Italy together as a family.
Kendra, owner of Dawning Public Relations, said her two employees are shouldering her agency’s workload, and David, a financial advisor at Strategy Financial Group, has “scaled back significantly,” focusing on existing clients while working remotely.
“Our team of doctors both here in the US and in Italy are speaking with our insurance carrier to hopefully work out coverage for the family during this time,” said David, who along with his two brothers Shaun and Daniel, are Desert Vista High School graduates.
“If not, we will have to separate our family.”
A $500,000 goal has been set to help the Riley family get to Italy and provide for the family’s care while there. That amount doesn’t include the costs of returning to Italy every six months for Keira’s check-ups.
“Many have asked how they can help us during these unthinkable times we all find ourselves in, and this is the way,” Kendra said. “Please help us raise enough funds to give our Keira the chance at a normal life; to save her life from the horrible disease that is MLD.
“Your support will not only help save our daughter’s life but further the advancement of gene therapy, which has the potential to cure hundreds of rare diseases.”
She said she and her husband “are so grateful for the outpouring of support we’ve received from our friends, family, and the Ahwatukee community."