In 2014, the Ontario Rett Syndrome Association (O.R.S.A.) Board of Directors had unanimously approved the funding of a $50,000 Research Grant to a joint grant application from Dr. Juan Ausio (Biochemistry and Microbiology, University of Victoria, BC) and Dr. John Vincent (Neurogenetics, University of Toronto). This was the first grant from The Hope Fund and was largest grant released at the time.
We are pleased to announce that with our support, their work, From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2 has been published in the Nature Journal “Scientific Reports”. A summary that explains the findings and context can be found below and to read the full article, please follow this link, www.nature.com/articles/srep38590/
Mutations in the MECP2 gene cause Rett syndrome (RTT). MeCP2 binds to chromocentric DNA through its methyl CpG-binding domain (MBD) to regulate gene expression.While it’s well established that single DNA changes can lead to Rett syndrome — one of the most common genetic forms of intellectual disability – a new CAMH study has for the first time linked DNA mutations directly to how severe the syndrome is among those affected.
The results could pave the way for improved diagnosis and potentially new treatments for Rett syndrome, which is marked by problems with communication, language, learning and physical coordination.
The study was led by Dr. John Vincent, Senior Scientist in CAMH’s Campbell Family Mental Health Research Institute, and PhD student and first author Taimoor Sheikh. It was published in the journal Scientific Reports in December.
The DNA in question is part of the MECP2 gene, which is made up of thousands of pairs of DNA – one part from our mother, one from our father. This DNA can be thought of as “letters” that create words to generate genetic instructions. In many cases of Rett syndrome, any one of about 160 known changes to these letters on the MECP2 gene can garble the words and then the instructions.
There’s a reason these single DNA changes have such serious effects: the MECP2 gene carries instructions for a fundamental protein in the brain. The MECP2 protein binds to DNA at various places, and then acts as a “switch” to turn nearby genes on or off.
The research team found that if the change, or mutation, occurred in a part of the protein where it disrupted the switch, the syndrome was more serious. Changes that were further from the parts of MECP2 protein that bind to DNA, instead affected how the protein interacted with other proteins. This led to milder symptoms.
“The discovery raises the possibility of finding compounds to treat Rett syndrome, if we could create a ‘patch’ to make the protein function the way that it’s supposed to,” says Dr. Vincent, who heads the Molecular Neuropsychiatry & Development (MiND) lab at CAMH.
In addition, the nature of each change – which “letters” were swapped out – also affected how serious the syndrome was, the researchers note. They used a series of tests to study MECP2 proteins, with 12 different mutations including many most commonly reported in girls with Rett syndrome.
Clinical implications
With further development, the findings could help in cases where Rett syndrome is suspected in a patient. Symptoms typically appear in girls before the age of two. Genetic screening would
yield information on the type of mutation, to predict the type and severity of illness, says Dr. Vincent. As there is currently no treatment for Rett syndrome, only symptom management, screening could point to where more supports are needed.
A study in boys
Another novel aspect of the study was the fact that it also focused on boys with MECP2 mutations. In boys, Rett syndrome is extremely rare. This approach provided researchers with a clearer picture of the effect of protein changes in terms of symptoms and severity.
The MECP2 gene is located on X chromosomes. As girls have two copies of X, those with Rett syndrome have a second unaffected MECP2 gene on the other X, which may compensate for the garbled instructions. This is seen by the fact that clinical symptoms of Rett syndrome vary greatly in girls.
As boys carry X and Y chromosomes, any mutation on the X has an even more serious effect. It’s believed that most such cases do not survive pregnancy or early infancy.
By studying 11 rare cases of boys identified with MECP2 mutations, the researchers were able focus on DNA changes and their molecular and cellular effects in relation to clinical severity, without any compensating effects of the second MECP2 gene on the other X chromosome.
Ultimately, they hope to find compounds to help treat Rett syndrome using an approach called “peptide panning.” It involves testing many different peptides, which are small pieces of proteins, to see which ones bind to the mutant MECP2 protein to help recover its normal functioning.
“By further developing the molecular and cellular tests used in our study, we hope to be able to predict the likely clinical outcomes for newly discovered MECP2 mutations, as well as screen for compounds that can make MECP2 protein with specific mutations revert back to its normal function,” says Dr. Vincent.
From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.
Sheikh TI, Ausió J, Faghfoury H, Silver J, Lane JB, Eubanks JH, MacLeod P, Percy AK, Vincent JB.Published in Scientific Reports, 8th Dec 2016; funded through an ORSA grant to John B. Vincent and Juan Ausió.
$100,000 Research Grant Awarded
Last Updated: 11/28/2020 by Bryan Higgins
London Ontario – May 5, 2017 – The Ontario Rett Syndrome Association (O.R.S.A.) Board of Directors has unanimously approved the funding of a $100,000 Research Grant to Dr. David Grynspan (Pediatric Pathologist, Children’s Hospital of Eastern Ontario, Ottawa, ON). The study is entitled “Treatment Strategies for Gastrointestinal Dysfunction in Rett Syndrome” and Dr. Grynspan’s collaborators for this work include Professor William Staines of the University of Ottawa and Dr. Sarah Schock, Research Associate at the CHEO Research Institute. This application was one of several received and evaluated by O.R.S.A.’s Research Advisory Committee that comprised of prominent neurologists, geneticists and scientists from across Canada.
This study aims to identify drugs able to restore normal intestinal function in Rett mice. The goal is that this would lead to effective drug therapy for intestinal dysmotility in Rett humans, and perhaps help to develop therapies for reversing neuronal connectivity problems in Rett brains. It is a rather novel approach in that this study plans to evaluate the enteric (ie- gut) nervous system, rather than directly studying the central nervous system as in most other studies. It is felt that this study, given its novel approach and its focus on a very common area of clinical concern, would be of scientific value to the research community at large as well as of great interest to the families most directly supported by O.R.S.A.
The Hope Fund was established in 2014. This is the third grant being released from this fund and the largest grant released by O.R.S.A. to date. The funds for this research grant were raised through donations and fundraising activities. O.R.S.A. continues to support research excellence and the development of a wide scope of Rett syndrome research across Canada.
About Rett Syndrome
Rett syndrome is a neurodevelopmental condition characterized by the loss of spoken language and hand use, coupled with the development of distinctive hand stereotypies. This disorder is seen in infancy and occurs almost exclusively in females. It is usually caused by a mutation of the MECP2 gene on the X chromosome. Rett syndrome is found in all racial and ethnic groups throughout the world. It affects one in every ten thousand live female births. Early developmental milestones appear normal, but between 6-18 months of age, there is a delay or regression in development, particularly affecting speech, hand skills and gait. A hallmark of Rett syndrome is repetitive hand movements that may become almost constant while awake. Other more common medical issues encountered include epileptic seizures, muscle stiffness, osteoporosis and scoliosis. Despite its multiple handicaps, Rett syndrome is not a degenerative disease. Many individuals with Rett syndrome live long into adulthood. There is currently no cure.
About Ontario Rett Syndrome Association (O.R.S.A.)
The Ontario Rett Syndrome Association (O.R.S.A.) exists to ensure that children and adults with Rett syndrome are enabled to achieve their full potential and enjoy the highest quality of life within their communities. The O.R.S.A. is a volunteer, not-for-profit charity for parents, caregivers, researchers, medical professionals and other interested support agencies and individuals. O.R.S.A. became incorporated in 1991. Its Board of Directors is comprised of parents and caring citizens. O.R.S.A. provides information through a website, a newsletter and conferences. Support is provided to families regionally. The association funds Canadian research projects, three Rett Syndrome Clinics, a resource centre and developed the Canadian Rett Syndrome Registry. O.R.S.A. advocates to the needs of individuals with Rett syndrome and their families provincially and nationally.
Dr. David Grynspan
David Grynspan is a Pediatric Pathologist at the Children’s Hospital of Eastern Ontario. He obtained his MD degree from the University of Toronto in 2000 and completed his residency in Anatomical Pathology at the University of British Columbia in 2007, followed by a fellowship in Pediatric Pathology at Wayne State University and The Children’s Hospital of Michigan in Detroit, Michigan. From 2007-2009, Dr. Grynspan was a staff Pediatric Pathologist at The Winnipeg Health Sciences Centre and The University of Manitoba. Dr. Grynspan has been a staff Pediatric Pathologist at The Children’s Hospital of Eastern Ontario (CHEO) and the University of Ottawa since 2009 and has been conducting research on the enteric nervous system since 2009. His interest in the neurological basis of intestinal dysfunction in Rett syndrome was sparked by clinical observations made by Dr. Peter Humphreys who is a role model and mentor. He is also fortunate to have been mentored in neuroscience by Professor William Staines at the University of Ottawa, with whom he formed a collaborative team that was the first to show expression of the Mecp2 gene in intestinal neurons. Aside from his research, Dr. Grynspan’s other academic interests include teaching and he is a member of the Pathology Residency Training Committee and the Maternal-Fetal Medicine Fellowship Committee at the University of Ottawa. David and his wife Karen have three daughters, Stella, Gabriella and Sophia. His hobbies include swimming and poetry.
13th Annual Rett Classic
Last Updated: 09/05/2017 by Sherry Lawrence
Mark it on your calendars!
Saturday June 10th, 2017 at 1:00 p.m.
Registration: Beginning at 11:00 a.m.
Tee-Off: 1:00 p.m.
Dinner: Buffet Following Golf
Format: 4 Player Scramble
Location:
The Greens at Renton
969 Concession 14
Simcoe, ON N3Y 4K3
www.greensatrenton.com
Posted: 03/14/2017 by Sherry Lawrence
Recruiting New Committee/Board Members
O.R.S.A. is looking for new board members & committee members
The Ontario Rett Syndrome Association (O.R.S.A.) is a volunteer, not-for-profit charity for parents, caregivers, researchers, medical professionals and other interested support agencies and individuals. Its Board of Directors is comprised of parents and caring citizens. O.R.S.A. provides information through a website, a newsletter and conferences. Support is provided to families regionally. The association funds Canadian research projects, three Rett Syndrome Clinics, a Resource Centre and the Canadian Rett Syndrome Registry. O.R.S.A. advocates to the needs of individuals with Rett syndrome and their families provincially and nationally.
What is expected of an O.R.S.A. board member?
O.R.S.A. board is a working board. As such, it requires its members to commit to a high level of time commitment. We are looking for individuals who are willing and able to make the following commitments:
* Be committed to O.R.S.A. mission, which is to ensure that children and adults with Rett Syndrome are enabled to achieve their full potential and enjoy the highest quality of life within their community.
* Be a member in good standing of O.R.S.A.
* Serve for a two-year term (up to 4 consecutive terms)
* Attend 5 regular board meetings a year, an annual general meeting, one two-day conference every two years and one planning weekend board retreat every two years
* Chair a board committee
* Take part in signature fundraising events at minimum
* Support O.R.S.A. financially
Required Skill (at least one of the following):
* Finance/Accounting (immediate requirement)
* Event Planning
* Marketing
* Government Relations (knowing inner workings)
* Public /Media Relations
* Governance
Skills in the following areas would be an asset to the Board:
* IT/Technology
* Management
Posted: 01/13/2017 by Sherry Lawrence
Linking genetic findings to clinical symptoms in Rett syndrome
In 2014, the Ontario Rett Syndrome Association (O.R.S.A.) Board of Directors had unanimously approved the funding of a $50,000 Research Grant to a joint grant application from Dr. Juan Ausio (Biochemistry and Microbiology, University of Victoria, BC) and Dr. John Vincent (Neurogenetics, University of Toronto). This was the first grant from The Hope Fund and was largest grant released at the time.
We are pleased to announce that with our support, their work, From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2 has been published in the Nature Journal “Scientific Reports”. A summary that explains the findings and context can be found below and to read the full article, please follow this link, www.nature.com/articles/srep38590/
Mutations in the MECP2 gene cause Rett syndrome (RTT). MeCP2 binds to chromocentric DNA through its methyl CpG-binding domain (MBD) to regulate gene expression.While it’s well established that single DNA changes can lead to Rett syndrome — one of the most common genetic forms of intellectual disability – a new CAMH study has for the first time linked DNA mutations directly to how severe the syndrome is among those affected.
The results could pave the way for improved diagnosis and potentially new treatments for Rett syndrome, which is marked by problems with communication, language, learning and physical coordination.
The study was led by Dr. John Vincent, Senior Scientist in CAMH’s Campbell Family Mental Health Research Institute, and PhD student and first author Taimoor Sheikh. It was published in the journal Scientific Reports in December.
The DNA in question is part of the MECP2 gene, which is made up of thousands of pairs of DNA – one part from our mother, one from our father. This DNA can be thought of as “letters” that create words to generate genetic instructions. In many cases of Rett syndrome, any one of about 160 known changes to these letters on the MECP2 gene can garble the words and then the instructions.
There’s a reason these single DNA changes have such serious effects: the MECP2 gene carries instructions for a fundamental protein in the brain. The MECP2 protein binds to DNA at various places, and then acts as a “switch” to turn nearby genes on or off.
The research team found that if the change, or mutation, occurred in a part of the protein where it disrupted the switch, the syndrome was more serious. Changes that were further from the parts of MECP2 protein that bind to DNA, instead affected how the protein interacted with other proteins. This led to milder symptoms.
“The discovery raises the possibility of finding compounds to treat Rett syndrome, if we could create a ‘patch’ to make the protein function the way that it’s supposed to,” says Dr. Vincent, who heads the Molecular Neuropsychiatry & Development (MiND) lab at CAMH.
In addition, the nature of each change – which “letters” were swapped out – also affected how serious the syndrome was, the researchers note. They used a series of tests to study MECP2 proteins, with 12 different mutations including many most commonly reported in girls with Rett syndrome.
Clinical implications
With further development, the findings could help in cases where Rett syndrome is suspected in a patient. Symptoms typically appear in girls before the age of two. Genetic screening would
yield information on the type of mutation, to predict the type and severity of illness, says Dr. Vincent. As there is currently no treatment for Rett syndrome, only symptom management, screening could point to where more supports are needed.
A study in boys
Another novel aspect of the study was the fact that it also focused on boys with MECP2 mutations. In boys, Rett syndrome is extremely rare. This approach provided researchers with a clearer picture of the effect of protein changes in terms of symptoms and severity.
The MECP2 gene is located on X chromosomes. As girls have two copies of X, those with Rett syndrome have a second unaffected MECP2 gene on the other X, which may compensate for the garbled instructions. This is seen by the fact that clinical symptoms of Rett syndrome vary greatly in girls.
As boys carry X and Y chromosomes, any mutation on the X has an even more serious effect. It’s believed that most such cases do not survive pregnancy or early infancy.
By studying 11 rare cases of boys identified with MECP2 mutations, the researchers were able focus on DNA changes and their molecular and cellular effects in relation to clinical severity, without any compensating effects of the second MECP2 gene on the other X chromosome.
Ultimately, they hope to find compounds to help treat Rett syndrome using an approach called “peptide panning.” It involves testing many different peptides, which are small pieces of proteins, to see which ones bind to the mutant MECP2 protein to help recover its normal functioning.
“By further developing the molecular and cellular tests used in our study, we hope to be able to predict the likely clinical outcomes for newly discovered MECP2 mutations, as well as screen for compounds that can make MECP2 protein with specific mutations revert back to its normal function,” says Dr. Vincent.
From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.
Sheikh TI, Ausió J, Faghfoury H, Silver J, Lane JB, Eubanks JH, MacLeod P, Percy AK, Vincent JB.Published in Scientific Reports, 8th Dec 2016; funded through an ORSA grant to John B. Vincent and Juan Ausió.
INVITATION TO PARENTS AND FAMILIES
Posted: 01/02/2017 by Sherry Lawrence
INVITATION TO PARENTS AND FAMILIES: WE NEED YOUR HELP….
Communication services and support for individuals with Rett syndrome:
As a parent/caregiver of someone with Rett syndrome, you can answer all of these questions and more in our survey for families. The survey is part of a larger project, funded by Rettsyndrome.org, to develop clinical guidelines for the assessment, intervention and longer-term management of communication in individuals with Rett syndrome. To make the guidelines truly international we need input from everyone affected by Rett syndrome, in as many countries as possible. This survey is for parents/caregivers. By working together and listening to everyone’s experiences we hope that communication services for all individuals with Rett syndrome will be improved. We can’t do it without you.
The survey has been online in English since October. It is now available in other languages, including:
Chinese (Mandarin), Danish, Dutch, Finnish, French, German, Hebrew, Italian, Lithuanian, Russian, Polish, Portuguese, Swedish.
If you speak another language and would find it easier to complete the survey in your own language, please contact the project coordinator to see whether we can make arrangements for this.
The survey can be completed on your computer or mobile device. It can be accessed via this link or by scanning the QR code:
https://maastrichtuniversity.eu.qualtrics.com/SE/?SID=SV_1HxpRW1GBQ2yCBn
If you have any queries, please contact:
Gill Townend (project coordinator)
g.townend@maastrichtuniversity.nl
The survey will remain active until the end of January 2017.
Please take time to add your voice and share your experiences with us.
Thank you,
The project team.
Last Updated: 09/15/2017 by Sherry Lawrence
STARS Study ~ Is your child living with Rett Syndrome?
Update April, 2017: This study is now open to patients 6 years and older (previously 13)
Rettland Foundation may provide travel assistance from Ontario to the Chicago site.
Is your child living with Rett Syndrome
There is a research trial to evaluate the safety, tolerability and efficacy of an investigational drug in reducing respiratory abnormalities in patients with Rett Syndrome
Patients may be eligible who:
* are 6 years and older,
* have a body weight of at least 25 kg (55 lbs), and
* experience multiple episodes of breath holding (apnea) while awake during the day
The study is being conducted at the following locations. If you are interested to learn more about this study please see the link, https://clinicaltrials.gov/ct2/show/NCT02790034?term=newron&rank=2 or contact the site nearest to you.
United States
Alabama
University of Alabama at Birmingham
Call Jane Lane at 205-996-4927 or Email: jlane@uab.edu
Principal Investigator: Alan Percy, MD
California
Altman Clinical and Translation Research Institute, La Jolla, San Diego
Call Karen Ditslear at 858-246-2288 or Email: kditslear@ucsd.edu
Principal Investigator: Jeffrey Neul, MD, PhD
Illinois
Rush Medical University Center, Chicago
Call Susan Rohde at 312-942-0079 or Email: susan_rohde@rush.edu
Principal Investigator: Peter Heydemann, MD
Texas
Texas Children Hospital, Houston
Call Mohammad Naqvi at 832-824-3634 or Email: Mohammad.Naqvi@bcm.edu
Principal Investigator: Daniel Glaze, MD
President’s Message ~ Extremely Thankful
Last Updated: 09/15/2017 by Sherry Lawrence
As we begin the Holiday Season, I would like to take a couple of minutes to remember what is really important in our lives and to be truly thankful for all that we have. We all work very hard to ensure that our loved ones with Rett syndrome are properly cared for, supported and feel loved all the time. We do this to provide them with a quality of life that we know they deserve and I feel it is our privilege to give to them.
As the President of the Ontario Rett Syndrome Association, I am taking the time to really think about what I am truly thankful for and the blessings that I have been given in this past year. I have had the opportunity to be mentored in my new role by Terry Boyd. She is someone who is truly dedicated to all those living with Rett syndrome and their families, and who has shown this dedication for well over a couple of decades. I am thankful for our volunteer board of directors, who put in a lot of thankless hours to ensure that our association is successful and continues to grow and prosper. It is my privilege to lead this group of people who work together with passion towards a common goal, to make an impact on other people’s lives.
I am thankful for all of the fundraising and awareness initiatives that are led by our members which allow this organization to continue to financially support the three Rett Clinics in Ontario, support the maintenance of the Canadian Rett Syndrome Registry. This fundraising has also allowed us to release the largest Rett syndrome dedicated research grant in the history of O.R.S.A this year; $100,000. Without the continued effort and support from our members, their families, friends and many others, this association would not be able to thrive.
I am most thankful for my family and their support, which affords me the opportunity to attend meetings and put in the necessary work so that this organization can continue to grow and prosper. Elle has opened my eyes to so many things in this world. She often reminds me of a quote that I now treasure. “I thought I would to teach my child about the world. It turns out I have to teach the world about my child.” For this opportunity, I am extremely thankful.
Thank you for your support!
Last Updated: 01/07/2017 by Sherry Lawrence
Thank you for your support of the Ontario Rett Syndrome Association (O.R.S.A.) in 2016. It was a year of amazing accomplishments that could not have happened without your support.
In 2016, O.R.S.A. had several major accomplishments, all of which contribute towards an effort to ensure that children and adults with Rett syndrome are enabled to achieve their full potential and enjoy the highest quality of life within their community.
These include:
* Hosted the Rising Towards Tomorrow Conference in Ottawa with over 122 attendees traveling from 4 provinces to participate in the bi-annual educational event.
* Board of Directors has unanimously approved the funding of two $25,000 Research Grants from The Hope Fund in 2016. The first $25,000 grant was awarded to Dr. James Eubanks from Toronto Western Hospital with and the second $25,000 grant was awarded to Dr Mojgan Rastegar from the University of Manitoba.
* Board of Directors unanimously approved the largest research grant in the history of Canadian Rett Associations. We were very excited to announce that The Hope Fund will be releasing a $100,000 research grant in 2017.
* Coordinated Rett Syndrome Awareness Day in Canada on October 29. Buildings and homes across the country were lit purple for the night in solidarity.
* Continue to maintain and support the Canadian Rett Syndrome Registry. This registry is important to families across Canada as future drug trials for Rett syndrome can only be implemented in Canada through an approved registry.
* Continued to make annual financial contributions towards the three Rett Syndrome Clinics in Ontario in order for them to continue to support the individuals living with Rett syndrome.
None of these accomplishments would have been possible without the efforts the volunteer Board of Directors at O.R.S.A. and your continued partnership with us. We truly appreciate your love and support.
If you would like to make a year end donation by December 31, 2016, here are 2 ways for you to give:
1. MAIL- Please make cheques payable to Ontario Rett Syndrome Association and mail to (postmarked by 12/31/2014): P.O. Box 50030 London, ON N6A 6H8
2. ONLINE- Donate online at www.rett.ca
Welcome Bryan Higgins, O.R.S.A. Board
Last Updated: 10/23/2016 by Sherry Lawrence
At our Annual General Meeting in August we elected a new member to our Board of Directors. Please join us in welcoming Bryan Higgins!
Bryan is the parent of a young girl with Rett syndrome and he has become quite involved, learning about communication, literacy and eye-gaze technology to help his daughter. Bryan brings with him several years of experience in internet technology, software development and social media. Bryan wants to be become involved to help others families and we welcome his energy, skills and enthusiasm!
Terry Boyd Retires
Last Updated: 11/21/2016 by Sherry Lawrence
Dear Friends and Members,
At the annual general meeting for the Ontario Rett Syndrome Association on August 19th, I will retire as president after 25 years serving on the board of directors. I would like to take the opportunity to express my sincere appreciation and to share a few final thoughts.
On November 9th, 1989 my husband, Dean and I heard those horrific words “Your daughter has Rett syndrome”. Like many parents at that time, we had never heard of this devastating rare disorder. There were only a few articles published on Rett syndrome in 1989. There was no internet to research it or to connect with other families. I did reach out to the Canadian Rett Syndrome Association by phone quite quickly. Two months after Kayleigh’s diagnosis, I was invited to attend a meeting with three other moms from Eastern Ontario and the executive director from the Canadian Rett Syndrome Association (CRSA). At this meeting, a local Ottawa/Cornwall Chapter was developed and somehow I became president. As a chapter president, I automatically became a board member for CRSA. I quickly met other parents from across Canada and Ontario who were board members. Within the first year on the board, it became evident that an Ontario Rett Syndrome Association was needed so provincial goals could be addressed. I was proud to be a part of the group that created the Ontario Rett Syndrome Association twenty-five years ago. In 1994, with great sadness, the Canadian Rett Syndrome Association was dissolved. The cost of operating a federal association for a rare disease was truly impossible. Each provincial association agreed to work together even if CRSA had to fold. To continue the provincial work, O.R.S.A. grew stronger and evolved at a rapid pace. I have been privilege to be a participant in this growth. My role on the board of O.R.S.A. in the early years was to operate the resource centre from my home and to be the support to families.
Through the past 26 years, I have had the pleasure of speaking to and meeting hundreds of families from across Canada. It has been an honour to be the first point of contact for many parents who had a child newly diagnosed with Rett syndrome. I have watched families grow stronger and rise up to the challenge to support and care for their family member with Rett syndrome. I have also shared in the deepest of sadness when a child with Rett syndrome has passed away. Each time I received the difficult phone call from the parents, my heart broke a little more. It is by meeting all of these families, I have found my own strength. Thank you to every family for allowing me to be a part of their lives. You and your children have been an inspiration.
Words can never express the gratitude I have for the researchers, physicians and medical professionals that I have gotten to know and have worked with over the years. There is no doubt these are a special group of individuals. They go beyond what is required of them. Their dedication to our children and to O.R.S.A. is unique and is absolutely appreciated. I am honoured to call many of them a colleague and a friend. I have to give a special thank you to Dr. Patrick MacLeod and Dr. Peter Humphreys. Dr. MacLeod has been a guiding force for O.R.S.A. He has also been the doctor who gave Dean and I hope when Kayleigh was diagnosed with Rett syndrome. His calm devotion and caring nature made us know our daughter was in safe hands. I will forever be grateful for his friendship and guidance. Dr. Humphreys became Kayleigh’s neurologist many years ago. He patiently listened to my continued request that he develop a Rett syndrome clinic in Ottawa. When it was the right time, he shared with me; he was ready to begin this process. With the support of O.R.S.A.’s board of directors, Dr. Humphreys and I met with the administration of CHEO and a clinic was established with O.R.S.A.’s financial support. That was over ten years ago. In time, two other Rett syndrome clinics opened up in Ontario. This has been a dream come true for me.
I also would like to thank all those who served on the Eastern Ontario Chapter executive committee and the association’s board of directors. For 18 years, I served as EO chapter president. We worked long hours hosting local
event such as the Mothers Retreat, workshops, the annual family BBQ, volleyball tournaments and as an Ottawa Dragon Boat chosen charity. Together we made a difference locally and became friends while volunteering.
I wish to extend my gratitude to those who have served with me on O.R.S.A.’s board of directors. As a working board, there is a great deal of dedication required by all board members. As president, I have seen the sacrifices each of you have made. It may have been time away from your family, your work, or your personal life. This has not gone unnoticed by me. Together we have accomplished so much for a volunteer charity. Many of you have become close friends and I truly cherish each friendship. I hope we will stay connected in the future.
I cannot finish without expressing my since appreciation to my family. Dean has been beside me throughout this journey. His support has been steadfast for 26 years. He took care of our children so I could volunteer away from home. The amount of trips to CRSA and O.R.S.A. board meetings are too many to count. I could not have given as much as I have without his support. Our children, Brekyn and Parker, have also been a great help. Many times in the younger years, they were busy collating photocopied articles, parent packages, and conference folders. They allowed their mom to miss important events in their lives so I could help others. They welcomed families into our homes without any objections. My mother, Dean’s parents and our extended family members have also been a support assisting with the chapter’s family BBQs, conferences and volunteering at many fundraising events over the years. I cannot express how grateful I am for my family.
There is only one other person to thank. This is my daughter Kayleigh. This year we will celebrate her 29th birthday. She has taught me so many life lessons. The greatest is how to live with a neurological condition. When I was diagnosed with Multiple Sclerosis in 1998, I used Kayleigh as my example and dug deep to accept and move forward. Her grace, determination, and unconditional love have been my strength in trying times. I am so in awe of her each and every day.
Volunteering within the Rett syndrome community has been a great joy and passion for me. I leave the board of O.R.S.A. very proud and content. I encourage those who have not given time to this very determined and dedicated charity to do so. New board members, committee members, and volunteers are always needed and very appreciated. As a volunteer, you will receive more than what you give.
I will spend the next year as past president (without voting privileges) and chair of the Governance Committee. My role is to be available to mentor the board when requested and to support the new president, Kevin Morton for one year. I remain for a period of time as the representative for O.R.S.A. on Neurological Health Charities Canada (NHCC) membership committee and the Province of Ontario Neurodevelopmental Disorders (POND) Parent Advisory Committee. I am excited to see what new ideas and growth lay ahead for O.R.S.A. I will be their loudest cheerleader.
Therefore, in closing, the words thank you seems not enough. Please keep in touch and know that you and your families are forever in my hearts.
Sincerely,
Terry Boyd
Ontario Rett Syndrome Association President
terry@rett.ca