We hope you are all doing well.
We are Jacob and Katie and we have 4 beautiful children. Drake – 15, Kiara – 12, Hannah – 10 and A.J – 8. They all seemed to be typical children in the first years of life. To see our our story on YouTube search BATTEN SIBLINGS OUR STORY. They met all the milestones on time or even early, were very bright and full of life, and created the normal chaos that 4 children do in a busy household like ours. We are a combined family where Drake is Katie’s first child from a previous relationship, Kiara and Hannah are Jacob’s children from a previous marriage, and A.J is ours together. We have been together since 2014, so all the children have a very special relationship with each other and with their step-parents.
Life seemed just perfect in our not so little family.
In Jan 2020, we started noticing the girls were struggling at school. The teacher said Hannah was going all the way to the front of the class to copy the notes into her daily journal. Prior to that, there seemed to be very few issues. We suspected she was having some normal problems with her vision. Kiara had mentioned to that she was having trouble seeing the board from her seat in class, but wasn’t having nearly the same level of difficulty as Hannah.
We took them to an optometrist promptly, but after several trips and much frustration as they claimed the glasses weren’t really helping, we were prescribed bifocals for both girls. It is rare for one child so both definitely raised some red flags, and still we couldn’t seem to get their vision to improve. Dr. Ramsey was stumped, and after taking photos of the back of the eye, he worked tirelessly to get us into a specialist to try to get to the root of the problem.
He referred us to the best ophthalmologist in the world (in our opinion), Dr. Ian MacDonald. He first thought it might be Stargardt’s disease, and decided to order a genetic test immediately (thankfully) for Hannah first, as her vision was much worse than her older sister, Kiara.
While Stargardt’s is a terrible disease, and does cause premature blindness, we soon wished that was the diagnosis. What happened next completely blindsided us and would change our seemingly perfect little existence forever. We’ll never forget that day. There was a heaviness in the air when we got to the office. The look in the eyes of Dr. MacDonald and Sara (our genetic counselor) was somber and downtrodden. We soon figured out why. They were appointed to deliver the news.
We received the one punch knockout news that our beautiful daughter Hannah, had CLN3 Juvenile Batten disease. It was devastating. It was surreal. It was like we were in a horrible nightmare, and we couldn’t wake up. It was on October 14, 2020, a date that will live in our minds forever. It was the day that completely changed the trajectory of our lives. It was the day that made all the normal stuff that we complain about on a daily basis seem so trivial.
With Juvenile Batten disease, the kids first lose their vision, then come the seizures, dementia, loss of fine and gross motor skills, mobility, and eventually the ability to do anything on their own. They typically pass away between the ages of 16 to 22. Watching your child, who you love so much, fall apart, bit by bit, is something no parent should have to go through. They call it anticipatory grief and we wouldn’t wish it on our worst enemy.
About a month later, after we had Kiara tested, we received the horrible news on November 20 2020 that she also had Batten disease. Though we suspected that she may have had this based on the issues with her eyes, it didn’t lessen the blow. There is nothing that can prepare you for this.
We then had Katie checked so that we could clear A.J. The chances of her having a deletion or a mutation on her CLN3 gene was 1 in 500, so we weren’t overly concerned with the results of this test, but we had to do it to make sure. We were in Jacob’s home country of South Africa when we got the call from Sara that Katie had the same deletion. That was hard to take, but she reassured us that AJ had only a 25% chance of having the disease, so we tried not to stress about it. That is easier said than done, and the rest of the trip was spent testing his eyes, and praying fervently that he wasn’t going to experience the same fate as his sisters.
We then tested AJ when we got back. We had an appointment booked to get the results but we couldn’t take the suspense and asked Sara to just give us the news over the phone. We had a bad feeling about it based on what appeared to be some vision issues, and our suspicions were confirmed on June 7 2021. One day before our 6th anniversary. Sara said when she received the results, she was in complete disbelief at what she was hearing, and said she shed many tears that day.
So there are two different mothers, living on a different continent, with the same genetic deletion as Jacob. The chances of this happening to a combined family like ours is about 1 in 8 billion. We now have 3 out of 5000 kids in the world who have this horrible disease.
Our lives have never been the same. This has consumed us, and we are fully dedicated to save our children. As it stands, there is still no real cure for this disease.
We find ourselves thinking of stuff they’ll never be able to do. Reading a book, riding a bike, driving a car, getting married, and on and on and on. It really breaks our hearts when we have to see them deteriorate in front of our eyes. When they ask, “where are you” and you’re standing right in front of them. On the other hand, we cherish every second with them, and we are blessed to be able to spend more quality time with them than we ever had before. They are the happiest of children for the most part, minus the brain damage that affects their behaviour. Particularly Hannah. We know she can’t help it, and we know she wants to be happy, but violent outbursts and behavioral issues are very common among children with this disease. Some days are worse than others, and we cherish the good days more than we ever would have before we got this news.
We are very grateful for our faith in Jesus Christ, and that has kept us going. We have peace and joy that surpasses all understanding, despite this trial we are going through. We know this is not the end, and if we can’t save they’re lives, we know we’ll see them in heaven. We are grateful to have kids that are so special, and while there is lots of anticipatory grief, and one can’t help but ponder on the grim future at times, we are not going to give up hope. We know that God is using this, and using us for His glory, and for our good, and we are eternally grateful for that.
Thankfully we caught them young because of the tireless work of Sara our genetic counselor, Dr. Macdonald, and the rest of the AMAZING medical team we’ve been blessed with. We really do have a chance of giving them a future beyond 22 years old.
While there is no cure available for this disease, there are a few treatment options that we are exploring.
There is a repurposed drug called Miglustat that we are currently treating our children with. It potentially slows down the damage being caused by this disease. Time will tell. This drug was generously supplied to us by the pharmaceutical company and it costs $25 000 per child per month. We are giving this drug to our children in combination with a special formulation of resveratrol which we discuss below.
We are so blessed that our children are already getting an experimental treatment to possibly extend their lives. We would like to start a clinical trail to help the other children in the world with Batten disease to have a chance, like our children, at having a longer life. In this clinical trial we would explore the effects of the combination of Miglustat, and a special formulation of resveratrol. Apparently it is an anti aging molecule and works to “clean the cells” from the lipofuscins (waste materials) that pile up. The CLN3 gene plays a large part in doing this job in the cells, and of course their gene isn’t doing it. We have been giving them this resveratrol supplement since we received the diagnosis, and we believe it has the potential to slow this disease down. There were some positive longevity results in previous studies done with resveratrol and cln3 mouse models. If we can prove this works, we can potentially figure out how to help not only Batten, but a whole range of lysosomal storage disorders including Fabry disease, Tay Sachs disease and Ferber disease.
Lastly, we would like to help revive a clinical trial that was halted due to lack of funding. It is a gene therapy and it could actually fix the gene, and cure this disease once and for all. Unfortunately, they need about 10 million USD to manufacture the mechanism to effectively deliver the gene therapy to the cells.
This is something we have to try to do for our children, and the other approximately 5000 (and counting) beautiful children suffering from this disease.
We know this journey is going to be intensely stressful, long, and extremely expensive. This is why we are reaching out for support. The facilities working on these therapeutics need literally millions of dollars for a project like this. There’s a lot of evidence that these therapies will work, though no guarantee. We’re asking to please put yourself in our shoes, and the shoes of so many suffering families afflicted with this disease – and other lysosomal storage disorders – that have to watch seemingly healthy normal children fall apart before their very eyes. Please reach out to your friends, family, and colleagues, and if you’re not in a position to give, please share this as we need to create awareness. Please help us give Kiara, Hannah, A.J, and all of the beautiful little batten warriors a shot at a long and happy life. God willing, we’ll be able to once and for all find a cure for this disease for all the families who have, and will in the future, get this life changing news. We want to do all we can to rid the world of this awful disease.
As we are writing this Hannah and AJ have lost most of their vision and are already walking with canes.
Thank you in advance for your generosity and kindness. Below please find our PayPal link.
God bless you all