National Rare Diseases Advocacy Week gives hope for a Milwaukee-area family

Imagine your family minding it’s own business, when a car accident turns your whole life upside down. This happened to a Milwaukee-area family.

“Our son and daughter were going to the library with our sitter, and on the way back, they were in a car accident. It claimed our son’s life, and our daughter suffered a traumatic brain injury and was in the hospital for eight days,” said Sue Dempsey.

The family went through a trauma that no one should have to go through. They lost their son in the car accident, and they hoped that that was the only thing they would have to deal with. Unfortunately, that wasn’t the case.

“In kindergarten, she actually got strep throat, and when we went to the ENT, she noticed the left side of her tongue was very wavy. So she suggested to go back to the neurologist we saw after the car accident. Then in 2012, they diagnosed her with Superficial Siderosis,” said Dempsey.

Making Mackenzie the youngest to ever be diagnosed with the condition.

Dr. Michael Levy is an associate professor at Harvard Medical School and Neurologist at Massachusetts General Hospital. His team is doing a lot of the research into this condition.

“It’s a very rare condition caused by iron toxicity on the surface of the brain and spinal cord. It results from chronic bleeding that occurs into the spinal fluid that bathes the brain and spinal cord,” explained Dr. Levy.

So the very torn in Mackenzie’s blood is essentially poisoning her brain.

“Really one of the first symptoms is hearing loss,” said Dempsey.

“So through hearing tests, we realized that her left ear’s got significant hearing loss.”

It’s a slow progression, which is one of the things that makes diagnosis so challenging.

“The other thing that makes it difficult to diagnose is the symptoms are very very similar to MS. So people tend to get misdiagnosed. Doctors, because they don’t know anything about Superficial Siderosis because there are only about 100 people diagnosed in the entire US. We were fortunately able to find Dr. Michael Levy,” says Dempsey.

There very well may be more with the condition that have been misdiagnosed. There is medication to treat this, but it is very specialized.

“It’s in a class called iron chelators [a simple molecule that binds to the iron] and this is the only one that gets into the brain and spinal cord,” added Dr. Levy.

“So we’ve been using it in clinical trials over the past few years, and seeing some benefit on the MRIs especially and also clinically in some patients. So we’re hopeful that over time, we’re getting rid of the iron from the brain and there’s a healing process so that patients can get better.”

That’s promising, but unfortunately Mackenzie can’t take it because it lowers her white blood cell count. This makes her very susceptible to getting sick. There are a handful of people that have that same symptoms. Somewhere between two to five percent of patients can have that reaction, making Mackenzie rare within the rare.

They are looking at other treatments too.

“They’re all focused around getting rid of the iron first, and then subsequently, we’re trying to find ways of helping the nervous system heal after the damage is done,” said Dr. Levy.

They don’t have it yet, but they’re working on it.

Here is where the Superficial Siderosis Research Alliance participating in Rare Diseases Week events comes in.

Sue and Kyle Dempsey decided to start the 501c3 organization to help support the medical research that their daughter and others so desperately need.

They are spending this week in Washington DC talking to lawmakers and participating in the Rare Diseases Week events trying to raise awareness and money for the research, so others don’t have to go through what they are experiencing. Plus, the research may also help folks with other similar conditions.

The car accident that took their son’s life and injured their daughter happened in 2008, and it’s 12 years later and the family is still dealing with the ramifications.

Hopefully the work that the Dempsey’s organization is doing will help make solid progress toward a treatment for this Rare Disease.

Click here for more information about Rare Diseases Week and Superficial Siderosis.