My 4-year-old daughter, Elle, is in the fight of her life. Her older sister, Milla, lost her fight last November. Their opponent? Batten disease, a rare, fast-moving, and fatal condition that destroys the central nervous system’s ability to function.
Elle has a chance to help manage, or maybe even beat, her disease that Milla didn’t have: a clinical trial in which an investigational protein is infused directly into Elle’s brain every 14 days.
As I have watched Elle bravely confront Batten disease, I have also been following discussions within President Trump’s administration about potential changes to the Food and Drug Administration. Some of these are highlighted in a STAT article, others in the president’s first speech to Congress, which just happened to be delivered on Rare Disease Day. I can’t help but wonder how the administration’s desire to streamline the FDA might affect my family, which has already been irrevocably changed by a rare and devastating disease.
Batten disease is the result of a genetic mutation that inactivates a specific enzyme. In that way it is similar to the condition that affects Megan Crowley, whose story President Trump highlighted in his address to Congress. The mutation makes it difficult for the body to break down fats and proteins. Their buildup damages the nervous system. Batten disease is largely unknown, since it occurs in only about two to four of every 100,000 people.
So far, there is no FDA-approved treatment for Batten disease. Fortunately for Elle and others with this disease, research into new treatments is ongoing.
Before Batten disease entered our lives, Milla was your typical toddler: silly and playful, a daredevil who would leap off anything she could
climb. In August 2013, just before Milla’s third birthday, she had her first seizure. She also started to show developmental delays in her speech, motor skills, and walking. Her condition declined rapidly. By January 2014, she was having hundreds of seizures per day. Fourteen months after her symptoms started, a genetic test revealed that Milla had a form of Batten disease called CLN2. At the time, there was nothing that doctors could do to save her life.
We were heartbroken to lose our precious Milla shortly after her sixth birthday — just two years after her diagnosis.
Since Batten disease is inherited, we had our other two daughters tested. Elle, at age 2, tested positive. We reached out to the Batten Disease Support and Research Association and learned about a clinical trial for children with CLN2. We now travel from our home in Memphis, Tenn., to Columbus, Ohio, twice a month for Elle’s infusions, and are seeing small improvements in her seizure frequency, speech, strength, and balance.
Why am I sharing my story? Because we are so thankful to have access to a therapy that is showing early promise for Elle. Is the four-hour infusion process easy? No. But it is priceless to us, especially when we think of other families affected by rare diseases who have no options to even consider. Scientists will learn from children like Elle, and this knowledge can affect how other diseases are treated as well.
When reflecting on my family’s journey with Batten disease, I’m hesitant to support sweeping deregulation of the FDA, as suggested by President Trump. Following his speech to Congress, the National Organization for Rare Disorders (NORD) issued a statement that agreed with the president that the FDA review process can be improved, but disagreed with him that “restraints must be slashed, or that the approval process at the FDA is preventing advances from reaching those in need.”
I agree with NORD that improvements to the FDA review process can and should be made to expedite the review of orphan drugs to help families like mine who are facing the near certain death of our children. The FDA should consider each disease and the circumstances of the patient population on a case-by-case basis when determining the requirements for approval. This will help ensure that lifesaving medicines reach patients in dire circumstances as quickly as possible.
I believe that developing drugs for rare diseases is far different than developing them for more common diseases, such as diabetes or heart disease, that affect millions. In the case of rare disorders such as Batten disease, in which death at a young age is inevitable for the small number of patients affected, small clinical trials should be sufficient for the approval process and the expedited review period for treatments should be assured.
I also believe that the perspectives and experiences of rare disease patients and their families should be more integrated into drug development
and review. Our view of risk and benefit is vastly different from those of people facing more common diseases with established treatments. In Elle’s case, for example, the risk of her trying an experimental therapy that replaces the defective enzyme in her body with a working one was small compared to the high possibility of her dying. It made our choice an obvious one.
The FDA has clearly made great strides over the last 10 years in its efforts to better partner with industry for the good of people facing rare diseases. I believe more can be done. But I also believe that work this should be done within the FDA’s existing framework, not in a streamlined version of the agency that protects pharmaceutical companies and device makers more than patients.
And I will continue to tell my family’s story and champion the researchers and doctors who are dedicated to saving lives, one rare disease at a time.
Frazer Gieselmann is a banker living in Memphis, Tenn., with his wife, Dana. Together, they have three daughters, Ann Carlyle, Milla, and Elle.