Ahwatukee Family Raises Awareness of Metachromatic Leukodystrophy

 

Dave and Kendra Riley have a beautiful family: them and their daughters Eva, Kiera, and Olivia. Yet the family has faced some scary and difficult obstacles over the last few years. Despite undergoing genetic testing prior to family planning, two of their daughters – Kiera and Olivia – were diagnosed with a rare disease called metachromatic leukodystrophy (MLD). According to Ahwatukee Foothills News, the family has had to frequently travel between the United States, Italy, and Amsterdam to receive gene therapy for Kiera and treatments to slow disease progression for Olivia. Now, Dave and Kendra are fierce advocates for expanded genetic testing, and seek to raise awareness about metachromatic leukodystrophy.

Metachromatic Leukodystrophy (MLD)

ASA and PSAP gene mutations typically cause metachromatic leukodystrophy (MLD), a rare disease characterized by myelin sheath destruction in the central and peripheral nervous systems. However, there are a number of other genetic mutations also associated with MLD. The myelin sheath normally protect nerve cells from damaged. However, when the myelin sheath is destroyed, nerve cells become exposed and damaged, inhibiting nerve communication. This occurs as the genetic mutations prevent the body from breaking down certain sulfide-containing fats, causing an over-accumulation.

Metachromatic leukodystrophy may occur in late-infantile, juvenile, and adult forms. Common symptoms between the forms include:

  • Difficulty speaking or walking
  • Intellectual or motor issues
  • Changes in behavior and personality

Late-infantile MLD is considered the most common form. Typically, in these patients, normal development usually occurs for up to 6-18 months. Next, patients begin experiencing developmental regression which affects cognition, speech, balance, and mobility. Many patients often experience muscle rigidity and use feeding tubes for support. Within 1-7 years of diagnosis, depending on treatment, patients experience vision loss and muscle paralysis.

Next, juvenile MLD makes up around 20-30% of diagnoses. In this form, symptom onset usually occurs between ages 4-14, with either motor or cognitive symptoms displaying first. Symptoms include behavioral issues, declining social skills, incontinence, changes in balance and gait, loss of muscle tone, paralysis, and vision loss. While overall regression takes longer than in the late-infantile form, many patients move to later stages of metachromatic leukodystrophy (such as paralysis) within 6-8 years.

Finally, adult onset MLD occurs anywhere between 20s and 40s. This is the rarest form of metachromatic leukodystrophy. Despite its late onset, many patients experience a similar final stage, with muscle paralysis, an inability to speak, and complete vision loss.

The Riley Family Story

Before they had their children, both Dave and Kendra underwent DNA testing to prepare themselves. Unfortunately, the scope of testing did not catch that either parent had a gene mutation associated with metachromatic leukodystrophy. In fact, the couple’s test reads “negative.” It is one of the reasons why Kendra now believes that genetic testing should be more expansive to account for the many and varied genetic mutations associated with certain conditions – not just the most prevalent mutations.

Since then, both Kiera and Olivia were diagnosed with MLD. Eva, the oldest Riley child, is a carrier, but will not be affected by symptoms. Kiera and Olivia’s treatment trajectories have differed, however. When Kiera was diagnosed with MLD, she was not yet showing symptoms. The family was able to enroll Kiera in a gene therapy program at the San Raffaele-Telethon Institute for Gene Therapy. Since then, Kiera, now nearly 2 years old, is being potty-trained, singing along to Frozen, and enjoying spending time with her sisters.

Olivia’s Experience with Metachromatic Leukodystrophy

Unfortunately, Olivia’s condition was not caught as early as Kiera’s, and she has experienced some developmental regression. While she used to walk, eat, and sing on her own, Kendra states:

MLD stole Livvy’s milestones and her future from under all of us.

In Amsterdam, the family pursued treatments to slow the progression of MLD and create a safe, comfortable life for Olivia. At home, the Riley family has a special outdoor playset which Olivia can use with her wheelchair. Additionally, the family recently enrolled Olivia in hospice so that the family can have a support system. Unlike with adults, hospice for children does not mean that they have little time left, just that there is a support system in place if needed. Currently, Olivia also uses a GI feeding tube.

Making a Change for MLD

Right now, Kendra and Dave work to ensure that their family stays strong and close together. Eva enjoys dance and speaking with her school friends. Kiera loves to hang out with her big sisters and go for strolls with Olivia. For Kendra and Dave, their experience spurred them to become advocates – for their daughters and for other patients.

The family shares their story on their website, and Kendra has also taken more concrete steps forward. For example, she became a board member at the Armer Foundation to provide a sense of support, comfort, and education for other families. She shared her family’s story through a public relations campaign. More importantly, Kendra urges families to speak up about the importance of newborn screening. Unfortunately, newborn screening is not standardized across states. While some states include certain illness screenings, others do not. Kendra and Dave suggest that families write to and email senators and representatives to create a more standardized screening platform – and to ultimately improve patient outcomes.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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