Maxwell and Riley Freed are twins who just celebrated their third birthday. Maxwell has a rare disease called SLC6A1. Sadly, this was a notable birthday because at 3, Maxwell will likely begin developing severe epileptic seizures.
There is currently no treatment for his condition. But that doesn’t mean people haven’t been working hard to uncover one.
The problem is, much research has stopped during the pandemic. Labs have shut their doors, and even the ones that are open are struggling to obtain the resources they need, such as mice for testing.
Maxwell was going to begin an experimental treatment this year. Now, his parents are worried it won’t happen. There are only 50 known people with the disease, so funding isn’t exactly a top priority. The family has done much of the fundraising for research themselves. This burden has now been exponentiated. The Freed family needs to raise 5.5 more million dollars and their next fundraiser, a golf tournament, has been canceled. They can’t get their money back from the labs they’ve paid, and they can’t move to a private lab, as its much more expensive.
Sadly, Maxwell and his family are not the only patients who have been affected by the pandemic.
Research all over the world, in all healthcare areas has stopped, slowed, been postponed, or shifted focus to coronavirus research. Rare disease research has been hit especially hard.
The Extent
Human volunteers for clinical trials as a whole have gone down by 65%. 2,042 clinical trials from the NIH have been “suspended.”
The NIH has also begun minimizing their staff and have halted some grants. The decision to shut their labs isn’t truly theirs, but instead is controlled by state governors or university policies. Unfortunately, when the call is made, reopening won’t be a quick process either. Equipment, animals, and cell cultures will need to be checked and supplies restored.
The grant funding SLCA1 research is so far unaffected, but SLC6A1 research relies on mice that they obtain from China. This operation has been halted. Additionally, the research lab at Vanderbilt conducting the study has shut down.
Neurofibromatosis 2 (NF2) research has also been shut down, and as the tumors caused by the disease can be fatal, mom Nicole Hendwood says, “The cost of this is the lives of children.”
NF2 BioSolutions was funding gene therapy research for the condition. Shutdown orders have stopped the research. Hendwood explains every day counts in terms of helping her son.
Cost
Cost has always been a huge burden for rare patients, but it is especially prevalent now. The pandemic has forced a halt to many of the fundraising efforts. When treatments cost millions of dollars, this stop is terrifying. The Freed’s have raised over 1 million for SLCA1 research. It’s estimated that gene therapies could cost 1 million per patient.
Rich Horgan, a part of Cure Rare Disease (CRD), also discusses the cost. Rich’s brother has Duchenne Muscular Dystrophy (DMD). They were able to move a research project from Yale right before the stay-at-home orders were enacted. Now the research is continuing in a private lab. But three of the planned fundraisers recently had to be postponed, raising question on how the last 1 million will be raised. Horgan has applied for the Paycheck Protection Plan as a potential avenue. CRD has also begun doing game tournaments online as a form of charity. It was actually a perfect plan as many of their rare patients are able to participate in the games themselves, regardless of individual ability levels.
” How do you fundraise when the entire country needs a GoFundMe?”
These families certainly aren’t giving up. The battle may have gotten harder, but hearts are resilient.
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