What started as a three year long search for a Barriere mom to find medical information and treatment for her son, has now become a giant wind of positive change for other families dealing with IDIC 15.
Therese McKirdy is the mother of an almost five year old boy, a boy who has a very complex condition including triple copies at 3 different chromosomes, 15q, 17q and 3q23. He has non-typical Autism, very pronounced cognitive delay, low muscle tone, and seizures to name a few of the disorders. Therese says he is age appropriate at about 2.7 years.
Therese, with her son, Connor, traveled to Boston last October to consult with Dr. Ron Thibert because he was at the only DUP15 clinic established at the time. The trip was made possible by the outstanding fundraising done by the community of Barriere to send this mom and her boy for medical help.
Therese reported that the trip and consultation had been most positive for Connor in all aspects, and noted, “Dr. Thibert also proved most willing to consult with families and physicians on this syndrome, and his research studies on SUDEP are so needed.”
She also noted that Dr. Thibert’s findings from a year of research and study was recently presented by him at a scientist symposium, and can be found at: http://www.youtube.com/watch?v=KBsIzRPfDhI
Becoming more, and more immersed in seeking information and help with the medical condition of her boy, Therese has also become an advocate to help other families dealing with the same situation.
“My vision is to see clinics comprised of key medical specialists that are familiar and/or willing to learn all that is involved with a patient with IDIC 15,” says the mom, “This includes research and targeted treatments for chromosome 15q duplication syndrome, and putting them together in dedicated clinics across Canada, to provide inclusive and ongoing treatment plans and follow-ups.
“The specialists I have been contacting, I have picked for their research or interest in genetic disorders, their interest in the treatment of non-typical epilepsy, specialists that research genetics and autism correlation, specialists in the physiological issues that are encompassed by these genes as well as G.I specialists to address the many issues with this region.”
She says the ideal team would be, neurogenetics, and neurophysiology, and she would like to see research meetings on chromosome 15q duplications to coordinate and promote additional research into chromosome 15q duplications, so that one day targeted and effective treatments will be a reality.
She tells that due to her advocation and inquiries to numerous researchers and doctors, one ten-and-a-half-year-old boy was been re-assessed and tested after their specialists were apprised of this syndrome, with the resultant findings conclusive. “I am so excited. It makes me happy that these families can now get the treatment for their children,” says Therese, “Yay!”
She notes her good friend and colleague (another mother of a IDIC15 child), along with Therese, are in the process of not only initiating the set up of treatment clinics across Canada, but are also in the initial stages of colaborating with another group to establish a micro grant program that will be dedicated to 15q11-13 duplication syndrome specifically, as well as being geared towards ‘clinical’ research and not theoretical.
“This will be all Canadian based and funded,” says Therese, “We intend to be a transparent organization that supports any and all initiatives deemed to benefit our community and clinical/scientific research. We will team up with any group that will work with us to accomplish these goals.”
She notes the two moms are currently forming an association with an accompanying web site, that will be there to inform families, be a venue for scientific experts to share important treatment, study and research options.
“We are also in the process of enlisting advisers with knowledge in key areas of this syndrome, namely epilepsy and SUDEP, neuropsychiatry, and G.I. issues to have a systematic data collection which may contribute to further knowledge,” adds Therese.
“I have met at least 30 families through a family resource and support group that I set up. They are all dealing with children with similar problems as my son.”
All this has come about since that trip to Boston in October of 2012; and due to the hard work and endless emails and telephone calls that this Barriere mom has put forth, her noble goals are being realized.
“Our pediatrician has learned much from my son, and there is so much more to be learned given that two of his chromosome disorders produce a type of Autism,” says Therese, “There are many doctors and health authorities that are not familiar with this syndrome, and I have been trying to educate to get the best possible treatments and therapies for my son. There are many health issues associated with this syndrome, one of which is unexplained sudden death.”
Therese is now the western Canadian rep for Unique, a rare chromosome support group and database in the UK, which has members worldwide. Unique is a global charity that provides awareness and information for people living with IDIC15 and other genetic variations. They maintain a karyotype database and provide leaflets on many known genetic disorders, and can be found by going to: http://www.rarechromo.org/html/home.asp
“It would be wonderful to have clinics or specialists that have an interest in the research and treatment in Canada,” says Therese, “I am really just a mom, but I very much wish to help future families to attain a diagnosis much sooner than the three years I have had to work through. And of course, to be able to get the treatment and information right here in Canada would be wonderful.”
She tells that one of the most exciting things that has come forward as a result of her and her colleague connecting clinicians across Canada, is that one of the physicians has gone back and tested previous patients, resulting in the confirmed diagnosis three more children.
“There are now over 30 families I know of personally in Canada, “ says Therese, “Our hope is to formalize the awareness network, form strong collaborations, and clean up our little corner of the world to make it easier for the families that come after us. We have a lot of work to do, but I am feeling very encouraged about our short term progress and long term goals.”
Therese has set up a Facebook page for Canada 15q chromosome disorders (IDIC CANADA) and she can be contacted by other families by emailing her at: firstname.lastname@example.org in order to be added to the group, which is a resource and family support page for Canadians.
She is aso willing to share any and all of the information she has gathered.
Therese McKirdy; changing the world for DUP15 children, one step at a time.