Imagine welcoming a much longed for new baby into your family with open arms, getting to know them and love them as they grow. Your hopes, dreams, ideals and aspirations for their future.
Only - To learn, that all is not as you had planned!
Your baby is different – why?
We don't know!
As a child Megan was floppy (hypotonia) she had poor motor skills, profoundly deaf, non verbal and developmentally delayed.
Megan required regular hospitilization with chronic asthma, epilepsy (deadly nocturnal, vomiting seizures, grandmal,complex partial, tonic clonic, abscence seizures), urinary reflux, gastric reflux, aspirating into her lungs, collapsed lung, optic atrophy, global developmental delay, general hypotonia and the list goes on.
Megan had so many tests in search of the reasons 'why' including a full chromosomal test that came back fine. No answers - just medical situations to deal with one after the other after the other. Lengthy hospital stays, sleepless nights all while having 4 other Children to deal with & and a household to run.
No party i assure you!
We had no map/no light to guide the way - scary scary scary is how I describe it and I would NEVER want to have to go through this again, alone without support or understanding!
After 25.5 years of not knowing why my Daughter Megan is as she is we finally have an answer - Megan is different because of a microdeletion of genetic material on chromosome 17q and the name of it is KdVs (Koolen De Vries Syndrome otherwise known as 17q21.31Mds- see www.rarechromo.org ), which was only discovered 6 years ago. It is a very rare microdeletion chromosomal disorder which occurs *de novo in 1:30,000 births.
To this date there are 102 people registered diagnosed KdVs
worldwide (not the previously thought 260) Pls see links below.
http://batchgeo.com/map/bc58e1a43ea50275d1c4bc84c282e45e
http://flipagram.com/f/D6khxo7zuN
THIS MEANS THAT THERE ARE APPROXIMATELY 100,000 PEOPLE WITH KDVs UNDIAGNOSED!
What does this mean for Megan and for the other few individuals and their families worldwide?
Firstly it means I am finally finding some keys to unlock the mystery kid i've been blessed to have been born to me. To understand Megan better in order to help her to establish and achieve her own personal goals in life.
For instance, I know now that Megan also suffers with Apraxia, Sensory Overload, Sensory Perceptual Processing Disorder and I believe Megan also has some Austistic Spectrum traits.
Kool Kids because of the microdeletion also have degenerative optical nerves which can result in loss of eyesight. Kool Kids are 30% more likely to develop melanomas.
What else for the Adult Kool Kids?
What's their life expectancy?
Are there other medical issues to be aware of?
Megan is the 4th eldest and one of the higher functioning Senior Kool Kids... where are the answers now for my Childs future?
Because there is not a lot known about this disorder, it is an ongoing ever learning cosmos out there. Megan recently broke her wrist in January, which should have been operated on the Drs said. However, because of the unknowningness of KdVs and Megan shutting down her vital organs even with an intravenious sedative, they wouldn't operate. 3 mths after the initial break Megans wrist finally began healing. This genetic disorder affects these kids in different ways, having said that KdVs affects every cell in their bodies.
There is some new light being shed on the hypotonia that comes with this disorder... it is 'congenital fibre type disproportion type 2' What does this mean? Don't know yet...
In July this year there is a KdVs gathering hosted in Dallas, Texas this will be a life changing event for Megan and the other Kool Kids to meet in person and network with these rare few families. It is an absolutely unique chance not only for Megan to meet other KDVs kids but it also serves to collect and compile information about KDVs, information that will eventually allow other parents whose child has been diagnosed to proceed down their life's path without so many of the uncertainties and questions I was plagued with for 25 years. Information that can be used to construct a roadmap - a roadmap for all the other parents out there - a roadmap I so badly needed when I first recognized that Megan was 'special'. Maybe with your kind help from our pain we can grow and reach out and help others just like my Megs... If you can spare a dollar and think this a worthy cause, I guarantee you that dollar will be invested wisely into this experience and the helping of others and the reward will be magnitude.
Yours sincerely,
Leanne Smith (Megs mum)