New Discoveries on Rare Disease Day
On February 28th, we honor “Rare Disease Day.” According to researchers, a rare disease is any illness that afflicts fewer than 1 in 2,000 people. It’s estimated that 300 million individuals around the world are affected by thousands of rare diseases—only a portion of which have been diagnosed, and most of which are presumed to be genetic.
Of course, Michele and I are invested in Rare Disease Day because our son, Mitchell, was the first to be diagnosed with one, and the first to suffer its fatal effects. But the number of identified patients battling “Mitchell Syndrome” continues to grow. Our community now includes over 10 families with children who have been diagnosed. As genetic testing becomes more available, we expect even more patients and families to be sent our way.
. . . including this family from Tennessee. Jacob and Sarah are siblings who were diagnosed with Mitchell Syndrome last fall through the Undiagnosed Diseases Network at Vanderbilt. We met them over Zoom last month. Sarah is 21 and Jacob is 19. Both experienced neurological symptoms and hearing loss at an early age. Their mother, April, passed away in 2014 from complications likely resulting from her own undiagnosed genetic condition. Given Jacob and Sarah’s diagnosis, doctors are confident that April suffered from Mitchell Syndrome, too.
This is an important piece of information as we continue to learn more about this rare disease. Mitchell Syndrome may be more widespread in the population than we originally thought; the fact that it can be passed from parents to children suggests as much. April’s story also shows us that people battling Mitchell Syndrome can live full and healthy lives, into adulthood.
Currently, Jacob and Sarah are being cared for by their grandparents, who are relieved to finally have a diagnosis, but nervous about what it might mean. Please remember Jacob, Sarah, and April—and their grandparents—on this rarest of days. Pray for their family and the others battling Mitchell Syndrome—that they have hope and courage. Remember those families who struggled valiantly to the end. And pray for the doctors and researchers who are investigating possible treatments for this rare disease, and the thousands like it.
To make a donation to The Mitchell and Friends Foundation, which supports families like this one, visit our Donate Page: mitchellandfriends.org/give.
To meet more of our families in this growing network, visit our Families Page: mitchellandfriends.org/families.
To learn more about Rare Disease Day, click HERE.