Team HNF stormed the halls of Capitol Hill on March 1, 2017 to advocate for Charcot-Marie-Tooth disease!

 Debi Houliares, HNF Board member and patient advocate was a guest panelist at the Hereditary Neuorpathy Foundation Summit held in NYC on Thursday October 5th. 150 people in attendance including doctors, researchers, scientist, exhibitors, caregivers and over 70 patients.


Debi Houliares, HNF Board member and patient advocate was a guest panelist at the Hereditary Neuorpathy Foundation Summit held in NYC on Thursday October 6th. 160 people in attendance including doctors, researchers, scientist, exhibitors, caregivers and over 70 patients.

What is Charcot-Marie-Tooth Disease Type 6 (CMT6)?

Charcot-Marie-Tooth (CMT) disease is a family of inherited disorders of the peripheral nerves.  There are over 60 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, varying degrees of walking and balance difficulties, ranging from tripping to requiring devices to stay mobile (leg braces, wheelchair or a scooter) difficulties using the upper limbs, and loss of sensation.  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 CMTI (“demyelinating”) and CMT2 (“axonal”).  A less common form of CMT is known as CMT6.  In CMT6 symptoms of the CMT can start in early childhood, teenage years or adulthood.  CMT6, involves development of optic atrophy with loss of vision or blindness, muscle atrophy and weakness, loss of sensation, and balance and gait difficulties.

Victor Varsity Baseball Team after a win!

Victor Varsity Baseball Team after a win!

Thank you to everyone who came out to support Zach with raising awareness and money for research at the Casino Night at the Strathallan Hotel.

Thank you to everyone who came out to support Zach with raising awareness and money for research at the Casino Night at the Strathallan Hotel.

Havana Night with Mark Strickland!

Havana Night’s Fundraiser  with Mark Strickland – NBA – Retired Miami Heat and Max Tucci Philanthapist- Talk Show Host – LA Talk Radio.            Spreading awareness for CMT 6!

 

Saturday July 25, 2015: The Rochester Chrome Divas and Zach

Saturday July 25, 2015: The Rochester Chrome Divas and Zach at the 1st Scavenger Hunt Charity Benefit

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The Houliares Family

Zach and players from the Victor, NY Football Team

Zach and players from the Victor, NY Football Team

Zach being casted for AFO's

Zach being casted for AFO’s

Zach puttin on his new AFO's!

Zach putting on his new AFO’s!

Objectives for 2016-2020

  • 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
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Thank you Senator Funke for recognizing Zach by honoring him with a Proclamation for being an exceptional advocate for CMT.

Zach and one of the football coaches sporting their "Find A Cure" bracket as they stand centerline at New Era Stadium home of the Buffalo Bills.

Zach and one of the football coaches sporting their “Find A Cure” bracket as they stand centerline at New Era Stadium home of the Buffalo Bills.

Thank you Senator Rich Funke for spending time with the Houliares Family and hearing Zach's story. Raising awareness for CMT.

Thank you Senator Rich Funke for spending time with the Houliares Family and hearing Zach’s story. Raising awareness for CMT.

CMT 6 was selected to develop natural history studies, supported in part by a cooperative agreement with the U.S. Food and Drug Administration (FDA).

HNF was selected to develop natural history studies, supported in part by a cooperative agreement with the U.S. Food and Drug Administration (FDA) for CMT6. Click here to read more.

Zach receiving the Youth Recognition Award for outstanding leadership by the Honorable Judge Craig Doran

Zach receiving the Youth Recognition Award for outstanding leadership in his community by the Honorable Judge Craig Doran.

Update from the Houliares Family: How we are using your generous donations!

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. Make your tax-deductible donation online at http://weblink.donorperfect.com/zachsteam donate or send a check made out to: HNF P.O. Box 1922, Midlothian, VA. 23113. Please reference Zach’s Team in the memo line. Warm Regards, The Houliares Family

Zach’s Story Zachary is an amazing young man who enjoys family and friends. He enjoys being involved with school and participants in the sports programs. Zach participated in his freshman year as the freshman football, basketball and baseball sideline coach and currently starting his sophomore year as the varsity sideline coach. Zach was recently diagnosed with the rare disease of Charcot-Marie-Tooth CMT6. This diagnosis came after a life time of countless visits to ophthalmologist, neurologist and orthopedics. Zach is legally blind with a vision of 20/400 and suffers from Optic Nerve Hypoplasia. We have spent a lifetime traveling from specialist to specialist and not one even consider CMT as a diagnosis. It wasn’t until January 2014  that Zach’s pediatrician suggested this disease was a possibility. I had never heard of CMT and once we researched it and found out what it was, we were devastated. Further doctor visits to a genesis was suggested and it was recommended that genetic testing be performed. Exon Genome sequencing is a diagnostic test that had recently become available that helps identify the basis of rare and unusual genetic disorders. Genetic testing was able to provide the answers to a lifetime of questions that were left unanswered and undiagnosed. 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 at http://hnf.donorpages.com/ZachsTeam/ and help us fund research.

Many Voices, Many Visions Part 1 (Part 2 below) Norma Holland, 13WHAM-TV Rochester, New York Aired on Sunday, July 5, 2015 Click here to view video
Many Voices, Many Visions Part 2 Click here to view video
Chrome Diva’s Scavenger Hunt Fundraiser Mark Gruba, 8WROC-TV-TV Rochester, New York Aired on Wednesday, July 15, 2015
**Please click on the boxes below to view full article**

CMT 6 Football Event

On October 23, 2015 the Victor New York Blue Devils Football boosters and coaching staff dedicated their first playoff game from their undefeated season to team manager Zach Houliares.

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