My name is Zach, I’m 21 years old and I have CMT Type 6.
The hardest part about living with CMT is sitting on the sidelines while my teammates play sports.
I need your help to fund research and find a cure so I too can get into the game.
Learn More About Zach
Zachary is an amazing young man who enjoys family and friends. He enjoys being involved with school and participates in his community. Zach was recently diagnosed with the rare disease CMT 6. This diagnosis came after countless visits to ophthalmologists, neurologists and orthopedic specialists. Zach is legally blind with a vision of 20/400 and he suffers from Optic Nerve Hypoplasia. Zach’s family has spent most of his life traveling from specialist to specialist, and not one even considered CMT as a diagnosis. It was not until January 2014 that Zach’s doctor suggested this disease was a possibility. Zach’s family had never heard of CMT, and once they researched it and found out what it was, they were devastated.
Further doctor visits to a geneticist were suggested, and it was recommended that genetic testing be performed. Exon genome sequencing is a diagnostic test that has recently become available and helps identify the basis of rare and unusual genetic disorders. Genetic testing provided the answers to a lifetime of questions previously unanswered and undiagnosed. Despite the fact that this disease was discovered over 100 years ago, there are still no treatment or cure for Charcot Marie Tooth disease.
What’s so amazing is that this disease has discovered over 100 years ago and there is still no cure. Please consider donating to Zach’s Team and help us fund research.
What is Charcot-Marie-Tooth Disease Type 6 (CMT6)?
Charcot Marie Tooth (CMT) disease is a family of inherited disorders of the peripheral nerves. Peripheral nerves run from the spinal column out into the extremities of the body, controlling motor function, sensation, and bodily functions. There are over 90 identified genes, in which particular mutations (changes) can cause CMT.
Most people with CMT develop muscle atrophy and weakness in the arms and legs, foot drop, difficulties using the upper limbs, loss of sensation, and varying degrees of walking and balance difficulties, including the necessity of mobility aids such as leg braces, wheelchairs or scooters. There are different categories of CMT, depending on what symptoms the disease presents with, the pattern of abnormalities on nerve conduction studies, the manner in which the CMT is inherited and the specific genetic cause of the CMT.
The most common categories are CMT Type I (“demyelinating”) and CMT Type 2 (“axonal”). CMT Type 6 is a less common form of CMT. In CMT Type 6 symptoms can start either in early childhood, teenage years or adulthood. CMT Type 6 involves development of optic atrophy with loss of vision or blindness, muscle atrophy and weakness, loss of sensation, and balance and gait difficulties. Depending on the genetic cause of the CMT Type 6, there may be other symptoms including delayed learning.
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We have set ambitious goals to achieve our mission and find a cure for CMT Type 6: Our objectives for 2017-2020
- Identify other patients and families with CMT6
- Build our new Natural History Study for CMT6
- Support patients and families with CMT6
- Launch research with new mouse model for CMT6
- Continued research with zebrafish model for CMT6
- Support translational research to advance novel drug therapies for CMT6
- Conduct pilot screens of FDA approved compounds
- Investigate gene therapy approach
Update from the Houliares Family
Dear Family and Friends:
The Houliares Family hopes that this letter finds everyone well. We want to share with you an update on all the progress that has been made over that past year as we continue to raise awareness and money for research for Zach’s disease, Charcot-Marie-Tooth (CMT6). Since Zach’s diagnosis in January 2014, our lives have been forever changed. Each and every day is a constant reminder to us on how important it is to continue our fight for treatments and a cure for this horrible disease, which Zach and others like him suffer from. We have been able to identify other families in the United States that have the same mutation as Zach, so our mission goes beyond the walls of our home as we enter into helping others who suffer like Zach. With Zach’s diagnosis in 2014, we have accomplished the following to date:
- Jackson Labs has developed a CMT6 mouse model with Zach’s mutation of C12orf65 to understand the disease and later this year we will launch studies to support therapy development.
- Continued research is being conducted at the University of Sheffield, UK using Zebrafish in order to better understand CMT6 and find targets to develop therapies.
- We plan to develop cell lines from patients with CMT6 to study the disease and test therapies.
- HNF has meetings this summer to finalize a novel gene therapy approach to tackle the genetic defects in the optic nerve with the world-renowned gene therapy center at University of North Carolina Chapel Hill.
- To date, we have hosted three events: Havana Nights, Scavenger Hunt Rochester Chrome Divas, and Casino Night.
Our family appreciates all your support thus far, but now the real work begins – the actual research! With your generous support we have accomplished so much in such a short amount of time. As parents, we believe in the power of love and pull from our strong faith knowing that we have the ability to make a better life for those that suffer from this progressive, crippling disease. Your continuous donation to Zach’s Team will help us in finding treatments and a cure for CMT6.
CMT6 (c12orf56) “One gene, two diseases”
What does this mean? C12orf56 can present as two different types of diseases called CMT6 and Leigh’s Syndrome. Both diseases are caused by dysfunction of mitochondria, the energy factory of our cells, and are progressive and, many times, devastating.
CMT6 is a complex type of CMT because it is associated with many other features in addition to the typical CMT symptoms such as delayed learning, blindness, language impairment and shorter life expectancy. Some patients with mutations in the C12orf56 associated with severe mitochondrial dysfunction can also present an aggressive central nervous system disease called Leigh’s syndrome. Symptoms are frequently triggered by a viral infection and include developmental delay or regression, loss of coordination, vision and hearing loss, memory disturbance and low or weak muscle tone.
HNF has been working hard to raise funds for Zachary Houliares, a young man, age 21 and others like him to find a treatment. Despite Zachary challenges and being legally blind, he has excelled in his community as a sport star coaching for his high school team and is continuing his passion at the college level. This past winter, Zach caught the flu and experienced a severe decline of his CMT which led to the diagnosis of Leigh’s Syndrome. It’s only now that we have learned, that CMT6 and Leigh’s Syndrome share the same gene, but Leigh’s syndrome presents more severely.
How could this be? Zach was hospitalized and almost died from severe mitochondrial dysfunction. Unable to swallow, speak and even move. He spent months in the hospital and is slowly recovering back at school.
HNF, in collaboration with Robert Burgess, PhD at Jackson Labs, Steven Gray, PhD at UT Southwestern and Mario Saporta, MD, PhD, MBA at the University of Miami, are working diligently on developing a gene therapy for these diseases.
We want to thank Locals Only, Lake Beverage, IHeart Radio and the RocCity Steel Sisters for their donations and support that helped to make our guest bartender event a success.
Many thanks to everyone that came out to support Zach and the Hereditary Neuropathy Foundation find a cure.
On Friday, September 28, 2018 HNF hosted an Externally-led Patient Focused Drug Development (PFDD) Meeting
More About The PFDD Meeting
In attendance were patients, caregivers, Government Officials, Healthcare Providers, Industry Representatives, and Payors. The PFDD meeting was an opportunity for patients and families to inform the FDA, drug developers and other key stakeholders, on the true burdens of living with CMT and how patients view the benefits and risks of treatments for CMT. This groundbreaking meeting included facilitated panel discussions designed to provide the FDA with perspectives from people with hereditary neuropathies, advocates and caregivers. The day focused primarily on a range of patient viewpoints on CMT, covering the symptoms and impacts to daily life that are most important to patients and patients’ perspectives on existing and future treatments.
Watch the PFDD meeting here: https://www.hnf-cure.
Debi represented HNF and more than 450 other advocates in Washington DC for Rare Disease Week. Her meetings on Capitol Hill lobbying for “The Orphan Product Extensions, Accelerating Cures and Treatments”, “Advancing Access to Precision Medicine Act” as well as asking our representatives to join the “Rare Disease Congressional Caucus” at both the US Senate and House of Representatives.
Tim Green’s latest book “Touchdown Kid” will be released October 3rd, featuring Zach “ZMoney” Houliares!
Check out the action-packed and heartwarming story by the New York Times bestselling author and former NFL defensive end HERE.
Scavenger Hunt Motorcycle Event for CMT6: A Success
Victor, New York ~ September 9, 2017
The Rochester Chrome Divas hosted a Scavenger in the Finger Lakes of NY on September 9th. Mother nature provided us a sunny cool fall day for the ride.
98 Participants enjoyed spending the day with Zach and the Divas. Grown “bikers” played duck duck goose, hugged a stranger, folded laundry for a stranger all while spreading the word for CMT6. Divas came in from Xenia OH, Watertown, NY and Cortland, NY to help support such a worthy cause. Other clubs joined the day not only to show the Divas support, but to learn about“Our Man” Zach.
Each person had a chance to meet Zach, have their picture taken with him and see where he worked this summer. We sold CMT6 Awareness patches, which are still available; click here. Wearing these patches will create new conversations and awareness going forward. The day was a great SUCCESS! Everyone returned safely and LAUGHING because they had sooo much fun. Many asked to be alerted about the next event.
HNF is happy to report that The Rochester Chrome Divas raised over $12,000 for CMT Type 6 research!
Learn more about the event and the Rochester Chrome Divas HERE.