Help our buddy Loic fight PKAN Disease
Donation protected
Update:
Since diagnosis, Loic’s parents started the Loving Loic Foundation in an effort to find a cure for PKAN and save Loic, along with so many other children who have fallen victim to this disease.
The Loving Loic Foundation hit the ground running and established the Loving Loic PKAN Gene Therapy Research Fund to develop a gene therapy treatment for PKAN. The LLF supports a partnership between PKAN physician-scientists at Oregon Health & Science University and scientists from the Horae Gene Therapy Center at UMass Chan Medical School. These experts from OHSU and UMass bring complementary skill sets, decades of experience, and a collaborative approach to the partnership, positioning them to successfully develop gene therapy for PKAN.
The first $75,000 donated to this GoFundMe were donated to the foundation and gene therapy project. It’s because of all these generous donations that the project was able to take off and we were able to get such an amazing team of medical professionals. The additional funds donated to this fund are now used for Loic's uncovered medical expenses and the purchase and training of his service dog, Milo
Thank you from the bottom of our hearts for your donations, prayers and support. We could not have made it this far without all of you. If you’d like to stay up to date on this project and Loic’s journey, go to www.lovingloic.org where we continue to share, educate and raise awareness for PKAN kids all over the world - especially our sweet boy Loic.
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Join us in support of the Blackford Family's journey to save their little boy, Loic (2.5), from PKAN Disease. Pantothenate Kinase-Associated Neurodegeneration (PKAN), is a rare neurodegenerative progressive genetic disorder that affects small children and adolescents. The rate of progression correlates with the age at onset, with those diagnosed early declining more rapidly. The life span of a child with classic PKAN is less than 10 years of age. Our buddy Loic was diagnosed on May 25, 2023. He is just shy of 3 years old. While he thankfully is still his energetic loving little self; his family is devastated. They are simultaneously trying to comprehend this horrific news, plan for future medical care for their child, and prepare for the fight of their lives. All while trying to stay present and soak up every beautiful moment they have with their baby boy.
There is no cure for this disease. These funds will help cover near-term challenges related to travel, experimental treatment and extraordinary costs associated with these terrible circumstances Loic faces. We hope to raise enough money, with additional calls to action in the future to support research to cure this horrific disease that is stealing the lives of our children.
Visit https://lovingloic.org for more information on Loic's story and PKAN and follow him on Instagram @lovingloic.
*Why Go Fund Me: We researched the best option for this family through the advice of legal counsel and tax professionals. All funds donated through Go Fund Me go to the family. We hope to surpass our goal through additional fundraising efforts, with excess funds dedicated to advancing a cure for PKAN. Gene therapy is in its early stages and holds the true cure. Currently, costs for gene therapy (research and the limited approved treatments) are astronomical. If we have the momentum, the goal is to start a non-profit dedicated to this effort in Loic’s name.
A letter from Loic's mama:
Loic Thomas Blackford was born on October 23, 2020 in Bozeman, Montana. Ever since he has been capturing hearts with his piercing eyes and infectious personality.
When he was 14-months old we began investigating his developmental delays, which included severe balance issues, inability to pull himself up and scoot around furniture, lack of babbling and no formation of speech. He underwent several evaluations, tests, and procedures to try and identify the cause of his symptoms. His blood work was normal and initial genetic testing revealed nothing remarkable. He had an MRI (without T2 imaging) when he was 18-months old evidencing delayed myelination and fluid on his adenoids. We started him in speech and physical therapy to treat his symptoms. At the recommendation of our ENT, he had tubes put in his ears. The tubes improved his balance to a degree, and he started walking 6-weeks later. He was 21-months old.
When he was 27-months he was diagnosed with global apraxia and tongue tie. These diagnoses fit his symptoms and we were hopeful he would outgrow them over time. In response, we increased his therapies, including the addition of occupational therapy, to two times per week.
By that point, we were pre-authorized for further genetic testing and decided to move forward with it. While we were waiting for the test results, we noticed Loic’s tongue would tremor when he stuck it out. In researching the symptom and looking at the results of a heavy metal test hair test, we thought his copper levels were off and he may have Wilson’s Disease – an easily treatable condition.
On May 25, 2023 our genetic test delivered the devasting news that Loic has PKAN. This is a rare genetic condition that affects 1-3 in 1,000,000 children. It can present in two ways, classic and atypical. Classic PKAN is characterized by early-childhood onset of progressive dystonia, parkinsonism, and brain iron accumulation with children bound to a wheelchair and placed on a feeding tube at the end of life. Id. It is terminal and children with classic PKAN typically do not survive past age 10. Atypical PKAN has a later onset, often around adolescence. Atypical PKAN has a more gradual progression and children have longer life expectancies.
Mark and I are both carriers of the gene. Each of our children have a 25% chance of inheriting it. We are currently having our 5-year-old daughter tested given there is a chance she could present with atypical PKAN.
Despite Loic’s challenges, he has continued to develop normally otherwise. Cognitively he understands everything we are saying and has found his own ways to communicate, including through sign language. He is now saying several words, and is walking, running and happy.
This diagnosis has been heartbreaking and devasting. Every time I look at him, I fear what is to come, while trying to soak up every second of my time with him. Comprehending how such a cruel disease could exist in this world for our children is impossible.
There currently is no cure for PKAN and treatment is palliative care. While research trials are underway for potential cures, and there is a drug that seems promising, we are not there yet. Gene therapy technology is years away. Given the progression of this disease, we don’t have enough time, and it is hard not to feel hopeless.
We will search for every possible treatment and potential cure for him. Because this is a rare disease, pharmaceutical companies do not fund research for cures. If they did, it is likely the drug would be too expensive given the limited number of people in need. Our goal is to educate others about this disease and raise as much money and awareness as possible. In the meantime, all we can do is provide Loic with the best life possible and continue to pray for a cure.
-Sherine
About PKAN
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic condition that affects 1-3 in 1,000,000 children. (See Allison Gregory, MS, CGC and Susan J Hayflick, MD, Pantothenate Kinase-Associated Neurodegeneration, National Library of Medicine (updated Aug. 3, 2017), Allison Gregory, MS, https://www.ncbi.nlm.nih.gov/books/NBK1490/). The disease disrupts the cellular process of metabolizing the enzyme CoA.
It can present in two ways, classic and atypical. Classic PKAN is characterized by early-childhood onset of progressive dystonia, parkinsonism, and brain iron accumulation with children bound to a wheelchair and placed on a feeding tube at the end of life. Id. It is terminal and children with classic PKAN typically do not survive past age 10. Atypical PKAN has a later onset, often around adolescence. Atypical PKAN has a more gradual progression and children have longer life expectancies.
PKAN is just one of several neurodegeneration with brain iron accumulation (NBIA) diseases. More information on these disorders and where we are in the process of find a cure can be found at the following links:
Fundraising team (2)
Friends of the Blackford Family
Organizer
Bozeman, MT
Sherine Blackford
Beneficiary
Haley And Anthony Jackson
Team member