We are in a race to save OUR CHILDREN BLAKE & BRETT from CLN6/Batten disease
. A disease that leaves children blind, immobile and is terminal between the ages of 6-12. After several months of misdiagnosis and unanswered questions (inset story below) our sweet Blake (5 years) was diagnosed with CLN6
in early November 2016. Blake is the 11th person in the world with the CLN6 variant. The Charlotte + Gwenyth Gray Foundation, www.curebatten.org
, has initiated and funded an FDA approved first of its kind gene therapy clinical trial for children with CLN6. The trial employs the AAV9 bird flu virus to deliver a replacement CLN6 gene to the brain. The replacement gene overrides the functionality of the mutated gene, allowing cells to function as normal; purging built up lipofuscin wastes (cell death cause) and restores balance. Blake has recently been treated with the gene therapy treatment to save his life and stop the devastating changes in his brain. There is HOPE!
Immediately upon learning of Blake’s diagnosis we had our sweet baby Brett (10 months)
genetically tested and received the devastating news that he too has CLN6/Batten disease. Brett is now the 12th person in the world with CLN6
. Although he remains asymptomatic presently, we are in a race against time to prevent any catastrophic changes to start. We are feverishly working to have Brett accepted into the same clinical trial to save his life. We need your help, there is HOPE!
1. Spread the word and share Blake & Brett's GoFundMe page
. Tweet, repost on Facebook, email, and text. Together we can end this!
2. Donate to Blake & Brett's GoFundMe cause
to offset the uncovered cost for extensive rehabilitation, equipment, in home medical services and staff, intensive therapies, and tests not covered by healthcare.
3. Keep the research going! Donate in Blake & Brett’s honor directly to The Charlotte + Gwenyth Gray Foundation c/o of the Giving Back Fund through Crowdrise and earn a tax credit
! Link is below. If possible seek employer/company sponsorship for fund matching or possible direct corporate donations. Let's end this for ALL CHILDREN
All proceeds go directly to The Charlotte + Gwenyth Gray Foundation/501c3: https://www.crowdrise.com/brave-blake-supporting-curebatten-hope Together, we will find a cure!
Bryan, Beth, Blake (5), Brett (10mo)Inset story, Blake:
Blake was born in July 2011 and filled our house with his sweet laugh and larger than life kisses and hugs. Empathy and a loving spirit were the hallmark for Blake’s personality from an early age and still are to this day. Blake had an affinity for books, swimming, sea animals ('Pi' the shark) and Thomas the Train. His spirit, what an amazing gift from God. In February 2015, we began to see Blake plateau developmentally. We immediately had his hearing and vision checked, both were normal. We approached his pediatrician to have him evaluated for a fine motor and speech delay. He was enrolled in OT and ST in fall 2015. Progress was made in therapy but by early spring of 2016, we began to notice a change in his gait and gross motor coordination. School began to mention concerns with regression of previously mastered skills and his vision came into question. In April we had his vision checked again, normal. We had arranged to have him behaviorally evaluated. During the evaluation he became ataxic and lost all function of motor coordination. Scared, we took him the ER. He underwent a CT scan during which he calmed down and returned to “normal.” We were at a loss as to what was going on and continued working with neurology.
June through September 2016: We began to take aggressive action. Blake underwent multiple MRIs, EEGs, ERGs, eye exams, blood panels, urine analysis, and visited no less 20+ specialists all over the Twin Cities, still no answers. We removed Blake from the preschool mid-September and we engaged the local school district for a special services evaluation.
Mid-September 2016: Acting as the sole advocate for Blake, Bryan pushed hard for a neuro-ophthalmology appointment. During the two-hour exam, the doctor saw vessel attenuation on Blake's retina and cone/rod dystrophy. Although not what any parent wants to hear, something was finally seen with regard to his eyes. We immediately ordered a sedated eye exam, ERG (retinal camera exam) and another MRI and EEG. Blake had a suspected retinal atrophy causing blindness. Blake has since been classified as legally blind.
The only way to stop the damage to his eyes was to find the root cause at the cellular level. A week later we met with the children’s hospital genetics team, an appointment made two months prior. We came in prepared to talk about Blake’s health holistically. It was anything but, the doctor spent time drawing figures of neuron cells on paper to explain what happens at a cellular level. We were told to “buy a helmet” for Blake and we were mortified. Nobody should have to hear this, fueling us more to find an immediate answer and next steps.
The following Monday we packed up Blake's items, including his binder of test results and evaluations and took him into the ER of the Mayo Clinic in Rochester, MN. The Mayo left no stone unturned and tested every possible remaining condition while we awaited Batten’s test results. By early November, we had a diagnosis through genetic testing at the Mayo. Blake was diagnosed with Batten disease (Late Infantile NCL Batten Disease CLN6)
. One chapter of our story closed while another immediately began. Our Disease:
Yes this our disease that we together fight as a family, as friends, as a community. No one fights alone. Batten disease is a known to have 14 gene defects, a rare neuro-degenerative disorder that leaves children blind, immobile, cognitively impaired and is terminal. Blake’s diagnosis is of one of the rarest forms of Batten known as CLN6. A disease so rare, that Blake is the 11th person alive in the WORLD with this condition
. The condition is passed by autosomal recessive inheritance from both the mother and father typically in a homozygous manner (both parents unknowingly are carriers do not express but have the same defect). What makes Blake even more unique, he is a compound heterozygous, one of us passed along a known mutation and the other a different unknown mutation in the same CLN6 gene. To make matters rarer the second mutation has never been seen before in modern medicine. He literally is the only child in the world with this particular gene defect. There is HOPE
, a known cure, a MIRACLE
will happen!! Our Hope:
Most children with CLN6 die between 6 and 12, Blake is 5. That makes our heart stop. We are in a race against time to save our sweet Blake from Batten disease and change the lives for many other children. The Charlotte & Gwyneth Gray Foundation gave their daughters and our Blake HOPE! The Gray family has exhaustively made huge strides in funding leading edge research in innovations for gene therapy, stem cell therapy and small molecule therapies to save our children from this horrific disease. Because of the Gray family, the foundation has initiated and funded an FDA approved first of its kind gene therapy clinical trial for children with CLN6
. The trial employs the AAV9 bird flu virus to deliver a replacement CLN6 gene to the brain through a virus. The replacement gene overrides the functionality of the mutated gene, allowing cells to function as normal; purging built up lipofuscin wastes (cell death cause) and restores balance.