Dave and Kendra Riley, two of their three daughters, Olivia (2 years old) and Keira (5 months old), have been diagnosed with Metachromatic Leukodystrophy (MLD), a highly progressive and rare genetic brain disease, which is fatal. Olivia’s MLD has already started to progress and she has lost her ability to walk and talk, and experiences pain on a daily basis. Keira, however, is not symptomatic yet, and we must act quickly to save her life.
The only treatment which can save Keira is known as gene therapy, and is only available in Milan, Italy. Our goal is to help them raise $500,000 by the end of July 2020. This would cover Keira’s treatment, as well as travel and lodging for the whole family during the 5 months they would have to stay in Italy.
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In November 2019, Olivia began having difficulties walking, would tilt her head and we then noticed a vibration in the irises of her eye. Concerned, we took her to our pediatrician who suggested starting PT and going to opthalmalogist. The opthalmalogist then ordered an MRI due to the nystagmus in her eyes.
In the meantime, we welcomed our third baby girl, Keira Blake Riley, to the world on January 9th, 2020. She was perfectly healthy and her big sisters Eva (5 years old) and Olivia were ecstatic to welcome her to the family. During this happy time, Olivia’s condition continued to worsen. And the COVID-19 pandemic took the world by storm. Booking appointments for her during this time was next to impossible but we were finally able to get an MRI, which unfortunately showed that she had vanishing white matter in her brain.
The initial neurologist said it was probably nothing and to come back in a year to monitor the condition. We were not satisfied with this answer so we sought out a second opinion. We were very fortunate be referred to a renowned children’s neurologist who specializes in rare childhood disorders. After a thorough examination and review of the MRI, the doctor immediately suspected that MLD was the most likely diagnosis. A genetic test was done and confirmed that it was in fact Metachromatic Leukodystrophy (MLD).
About The Disease
MLD is an extremely rare, fatal brain disease which destroys the protective fatty layer (myelin sheath) surrounding the nerves in the central nervous system. It aggressively takes away motor function and other abilities, which is why Olivia was struggling to walk and displaying other symptoms. This disease is inherited from parents who each carry one recessive copy of a mutated gene. When the symptoms show early in life, such as in Olivia’s case, most children are not expected to live past 4 - 6 years old.
Dave and I were devastated. How could this happen to our sweet Livvy? Before we began having children, we had genetic testing to rule out any rare disorders such as this. In fact, they even tested us for MLD and cleared both of us. Unfortunately, our form of MLD is so rare that they don’t even test for it, they only test for the five most common mutations.
Since Dave and I are each carriers of a genetic mutation that can cause MLD, it means that our children would have a 25% chance of receiving both mutated copies and develop MLD. We had to do testing on Eva and Keira to be sure that they did not have the mutation, and the testing took 3-4 weeks for the results.
Treatment for Livvy
While we were waiting for the test results for Eva and Keira, our doctor informed us of a clinical trial which is ongoing for MLD patients. This treatment is not curative - it cannot reverse damage which has already been 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. Olivia was evaluated and tested, and the doctors determined that she was a good candidate for the treatment. This is the only clinical trial available in the world for MLD treatment of symptomatic patients.
In May 2020, we traveled with Olivia from Phoenix to Iowa, the location of the treatment center. She had to have a port surgically installed in order for them to inject the medicine directly to her. This procedure and recovery time took two weeks. After the port was successfully installed, we now have to travel from Phoenix to Iowa every week (Thursday - Saturday) for the doctors to administer the medicine. So far, we have not seen a difference but we are hopeful that it will slow the disease down so we have more time with her.
Olivia has lost her vocabulary, cannot pronounce most words, and experiences some form of pain (from moderate to severe) on a daily basis. She still has lots of smiles and happiness in her, and her big sister Eva and her baby sister Keira always makes her light up.
On June 19th, during one of our trips to Iowa with Olivia, we received the results of Eva and Keira’s genetic testing. Eva is a carrier for the disease (like Dave and myself), which means she will be unaffected by the disease and live a normal life. Keira, however, has both mutated copies of the gene and has MLD.
Hope for Keira
We immediately turned to the two best resources for MLD affected families, CureMLD.com and the MLD Foundation. They informed us of a cutting edge MLD treatment option which is only available in Milan, Italy. This treatment is known as gene therapy. The treatment provides a functional copy of the DNA that encodes for the ARSA enzyme. This enzyme, which is mutated in children with the condition, is responsible for clearing up sulfatide molecules to prevent them from accumulating in nerves and impairing their function.
Since beginning MLD treatment in 2010, the institute in Italy has treated 29 patients from around the world, of which 26 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 is currently asymptomatic and eligible for the therapy. Unfortunately, we were informed that the clinical trial is fully enrolled and they are not accepting new patients under the program.
We have only one hope left: they have accepted Keira for treatment but only on “compassionate use” basis. We will have to pay out of pocket for our family to move to Italy for 5 months for Keira to receive the treatment. 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. If not, we will have to separate our family.
It will cost upwards of $500,000 for the treatment, lodging, travel and expenses for our girls’ day to day care. This does not include the trips we will need to take back to Italy every 6 months for Keira’s check-ups. Dave and I will also not be able to sustain a stable income while we spend this time with our girls.
Many have asked how they can help us during these unthinkable times we all find ourselves in and this is the way. 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. 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.
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. We could not thank you enough for any help or support during this time.