We’re celebrating Rare Disease Day 2021 by raising awareness for SPG52 and the entire rare disease community. In a year when we all feel isolated, let’s (virtually) come together to fight for this community of 300 million people.
Did you know for many people it can take years to find a diagnosis for their rare disease? Years of pain, sickness, doctors … until they finally hear the words “You have …”
We were very fortunate with Dante to be sent for genetic testing after his first appointment with his neuro-geneticist, and it took only a matter of months to get a diagnosis of Spastic Paraplegia type 52. The relief we felt to have answers to all the unknowns of what was causing his delays, halt in growth and seizures.
Dante was already receiving therapy services from Early Intervention and we were able to increase services now that we had a diagnosis. What we didn’t know at the time was that his condition is progressive and without a cure he could lose all the skills he’s working so hard to gain.
Luckily we found other SPG families online and started to connect with parents of SPG52 kids and other AP4 disorder families (there are four sub-types of spastic paraplegia caused by an AP4 gene mutation).
For past few years we’ve been working with these families and the Cure AP4 organization to raise the funds needed for a gene therapy treatment, which is the best chance at saving these kids lives by stopping the progression of this disease.
Today, we’re asking you to help us get closer to that goal by donating to help Cure SPG52. Whether it’s $52 for SPG52, $28 for Feb 28th (Rare Disease Day), or $5 for our amazing 5 year old son any amount helps tremendously.
If you’re unable to donate, please share our story and help raise global awareness for SPG52.
Individually we are rare. Together we are strong.
Thank you!