Parents Determined to Find a Cure for Rare Leukodystrophy in Memory of their Son

According to a story from abc.net.au, ever since Massimo Damiani was first diagnosed with a leukodystrophy, his parents, Sally and Stephen, have been committed to promoting research efforts and new treatments in order to help their son. Massimo passed away in December 2017.

Stephen shares “The past five months have been a blur, and we are still in shock at the unexpected passing of Massimo.”

“Massimo went to bed happy and smiling, as he always does, but in the morning he was no longer with us. It was an incredibly difficult Christmas and Easter without him. Massimo was the anchor of all our lives, in so many ways, and we feel terribly lost without him. It’s going to take a long time to adjust to our new normal.”

Now his parents are dedicated to helping the patients with his disorder in memory of their son. He was first diagnosed when he was only about a year old. His parents knew something was wrong when he started to regress on some of his critical development milestones.
Leukodystrophy is a group of genetic disorders that are characterized by the degeneration of the brain’s white matter. The cause of this degeneration is the improper formation of the critical myelin sheath, an insulating cover that surrounds neurons and is essential for their ability to communicate and function effectively. Damage to the white matter can lead to nervous system inflammation and the loss of remaining myelin. Symptoms include ataxia, a backwards bent head, muscle rigidity, loss of mental function, loss of vision and hearing, and seizures. When diagnosed in infancy or early childhood, most patients do not survive past age ten. In the late onset form the appears in adults, most do not survive much beyond a decade. Gene therapy and stem cell transplants are the most promising treatments in development. To learn more about leukodystrophy, click here.

As it turned out doctors could not specify which form of leukodystrophy that the boy had, and his father, Stephen helped pioneer a new diagnostic technique called “trio family whole genome sequencing,” which is now used worldwide. Massimo had an entirely new form of leukodystrophy. Since this discovery, 30 other children from around the world have been diagnosed. The name of the new disorder is called Hypomyelination with Brain Stem Involvements, Spinal Cord Involvement and Leg Spasticity (HBSL).

Stephen shares that recently, Massimo had been at his happiest and healthiest.

“We can take some solace knowing h­­e never had to endure the later stages of this awful disease. This knowledge doesn’t bring him back. but provides a great deal of comfort, on many levels, and over time we will grow to appreciate the quality times we had together even more.”
Sally and Stephen founded the Mission Massimo Foundation in 2012, which works with a team of researchers and doctors from around the world in order to facilitate research and treatment development. Massimo’s parents recently returned from a trip to San Diego, where Illumina dedicated its clinical genomics laboratory to Massimo.

“Jay Flatley, Francis deSouza and Ryan Taft all gave touching tributes to Massimo on the impact he has had within the Illumina and rare disease communities globally. Massimo showed us all what the very best of humanity can achieve working together to achieve a common goal and will always be remembered as an enduring example of courage, persistence, love and teamwork. Massimo will now forever be watching over every genome sequenced through this laboratory each with its own unique story of hope.”

With breakthroughs in research getting so close, the couple knows that they cannot stop their efforts now. 

To learn more about the Mission Massimo Foundation, visit their Facebook page here.

You can also watch a video about their journey here.


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