Isla Edwards' Fight Against CLN3 Batten Disease

On August 12th, 2021 our lives changed forever. After genetic testing to determine why Isla's eyesight was strained we received news we were not at all prepared for. Isla was diagnosed with a rare genetic condition; CLN3 Batten Disease.

Batten Disease is a rare group of nervous system disorders called neuronal ceroid lipofuscinosis (NCLs) (or ceroid lipofuscinosis, neuronal: CLN) that get worse over time. It generally starts in childhood with progressive vision loss between the ages of 5 and 7 for CLN3 patients. The damage is caused by the buildup of fatty substances, called lipopigments, in the cells of the brain, central nervous system, and retina in the eye. Symptoms begin with macular degeneration and blindness, followed by seizures, childhood dementia, ataxia, cognitive decline, loss of motor skills and the ability to walk, talk and communicate. There are different forms of the disease but all are fatal, usually by the late teens or twenties. There are currently no approved treatments and there is no cure.

Isla’s diagnosis was given extremely early compared to other CLN3 Batten children who often don’t get answers until after they have already lost vision, physical abilities, and suffer mental decline. This early diagnoses is both a blessing and a curse for us. It is a blessing because we are able to prepare for what is to come and try our best to keep her progression as slow as possible, but also a curse in that as we watch our beautiful, active, perfectly healthy child live her life we have a dark cloud of fear of the future we have to actively keep at bay. But already with the support from our family and friends we have been able to overcome our fear and get down to business… which is to save our daughter’s life.

Although there are currently no approved treatments or cures available, we remain positive and hopeful that the medical breakthrough we desperately need will happen before Isla’s disease progresses further. All of the medical treatments currently in the works are aimed to stop progression, but none of them can restore what has already been lost. This truly is a race against the clock for us. After weeks of research and relentless digging, we have found a few Batten specialists who are without a doubt the best fit for Isla’s medical needs and are willing to TRY to take on a disease that every other doctor has written off as hopeless. Unfortunately these doctors are spread out all over the country which means frequent traveling, endless doctors visits, and hospital stays. We are trying our best to prepare what this means for us mentally, physically, and financially.

As of right now (October 2021) Isla’s only current exhibiting symptom is rapid vision loss. In April of this year she had 20/50 vision and now in October she has already declined to 20/250 vision. Just within the past few months Isla has already lost all of her central vision and is relying solely on her peripherals. She has also lost the ability to detect certain colors and the ability to see in dim lighting. We are soon to start her on a medication that has the potential to slow her vision loss but without a radical new development in ocular genetic medicine we are faced with the reality that every child with this disease goes blind. As devastating as this is, blindness is sadly the least terrifying symptom of this disease.

With your help you can help us prepare for Isla’s future, both short and long term. We know for a fact this next year will be full of traveling to meet specialists and tackling the expenses that come along with it. What we don’t know is what her needs for the future will be. Will we need to pay for any life saving treatments that become available? Will she need a wheelchair or a service animal? Will we have to fit our home with equipment to better suit her visual or physical limitations? We are not allowing ourselves to drown in the “what-ifs”. What we ARE doing is preparing for the battle to come and refusing to let this diagnosis take us down without every ounce of fight we have inside us. Isla deserves every chance there is at beating this ugly, devastating, unfair disease, and I know in my heart that if any child is strong enough to overcome, it’s her.

 

We appreciate any help available, whether it be donating to medical expenses or prayers for the slowest progression possible. Hug your babies tight tonight, let them know how much you love them, and take a page from Isla’s book and make every day count by choosing to have #NoBadDays.

 

-Jacquelyn Stockdale, Isla's mommy