When Kyle and Sue Dempsey’s daughter Mackenzie was three years old, she was in a car accident that resulted in head trauma. A couple of years later, when she was in kindergarten, she came down with strep throat. As any attentive parent would do, Sue took her daughter to the doctor for a proper diagnosis. It was then that the doctor noticed something unusual: the left side of her tongue did not lie flat in her mouth. After monitoring changes to MRI scans of her brain, the doctors eventually diagnosed Mackenzie with a very rare disease: superficial siderosis.
About Superficial Siderosis
Superficial siderosis, which is also known as superficial hemosiderosis, is a rare disease of the brain which is characterized by iron deposition into neuronal tissue. As iron is toxic to the brain, this leads to a variety of severe symptoms over time. The disease is caused by bleeding into the subarachnoid region of the brain. This bleeding can be the result of a variety of malformations or abnormalities, but in many cases, prior head trauma is the cause. Sometimes, the cause of bleeding is never found. Symptoms include unequal pupil size, bladder abnormalities, smell and hearing loss, pyramidal signs, and ataxia. There is no cure for superficial siderosis and treatment is almost entirely symptomatic; treatment may include iron chelators, hearing aids, and surgery (if the cause of bleeding can be corrected), which can halt the progression of symptoms. There are currently less than 300 cases of the disease known to science. To learn more about superficial siderosis, click here.
Mackenzie was starting to experience hearing loss and they soon began searching far and wide for ways to help her. However, it didn’t take long for them to come to the devastating realization that practically nothing was being done to research or develop new treatments for the disease.
“All of the money we raise goes directly to medical research, because before nothing was being done.” – Sue
The sheer rarity of the illness meant that there was next to no awareness. Additionally, they discovered that their daughter has a severe reaction to the iron chelating medication, meaning that she will need a new therapy to help get rid of the iron in her brain. However, she had surgery in 2016 that finally stopped the chronic bleeding.
Kyle had gone to Rare Disease Week in DC for three years in order to help build the disease community and help spread awareness, but it isn’t easy when there are only around 100 confirmed cases in the US. Mackenzie is also the youngest person to be diagnosed with superficial siderosis.
Kyle and Sue established a nonprofit organization called the Superficial Siderosis Research Alliance (SSRA) to support and fundraise for medical research that will go towards improving the scientific understanding of the disease and developing new treatments.
To get involved with SSRA and learn more, click here.
To register for the SSRA 5K fundraiser, click here.
To learn more about the Dempsey’s story, click here.
“It’s very strong, the rare disease community, and it’s important to find a support group everywhere you can, be it through your doctor or online. We’re all in this together and it’s so important to collaborate because we can make miracles happen.” – Sue