Kaylee's Mowat-Wilson Conference

This is Kaylee. She is 20 years old and has Mowat Wilson Syndrome.  Kaylee was 17 years old before she was diagnosed with Mowat Wilson Syndrome.  Mowat-Wilson Syndrome is a rare genetic disorder caused by micro deletion in chromosome 2q22-2q23 or a mutation of a gene within this region.  Kaylee was born relatively healthy.  Although 40% of children with MWS are born with hirshprungs disease, Kaylee was not.  Kaylee did not start reaching the typical milestones as most infants and was diagnosed by her pediatrician as "developmentally delayed".  By eight months old, Kaylee was enrolled in an early intervention program and was able to work with therapists weekly.  At age 1 ½ Kaylee developed several kidney infections and it was discovered that her right kidney was nephrotic.  She underwent surgery at that time to have her kidney removed.  Around age 3 she started having seizures.  Around this time her doctor also recommended genetic testing and we were referred to Primary Children's Hospital Genetics department.  The genetics department did not have a recommended test for Kaylee at that time so we stuck with "developmental delay".  At age 8 Kaylee's neurologist mentioned Angelman's Syndrome to us.  We researched all the information we could about Angelman's Syndrome and Kaylee matched much of the criteria.  We went back to genetics and they also thought she had many of the AS characteristics.  Our insurance would not pay for the genetic testing at that time and we could not afford to have it done.  I joined an Angelman's Syndrome support group online and got lots of great support and advise from other parents.  It was nice to feel "part" of something that could give us answers.  It was around the time that Kaylee was 12 that she was able to have the genetic testing for Angelman's Syndrome, Rett Syndrome and Smith-Magenis Syndrome.  All tests came back normal.  I was sad that I didn't have a diagnosis but I still stayed in the AS group that had helped me so much.  The genetic department told us to not give up, that new disorders were being found all the time and to keep checking in with them.  So we continued to do follow-up visits every 2 to 3 years just to see if anything new had come along.  In the meantime, I would do my own searches on Google, searching things that were unique to Kaylee.  One day when she was 17 years old,  I searched "delicate tapered fingers, seizure disorders, developmental delay, wide spaced eyes, prominent chin, and genetic disorders."  Up popped the usual list of syndromes, but as I looked at the section of images there was a picture of a little boy that could have been Kaylee's twin.  Their features were so similar!  I quickly went to his page and discovered Mowat-Wilson Syndrome.  I immediately set up an appointment with genetics and her genetic doctor.  He was able to give me a clinical diagnosis because once again, our insurance does not cover the cost of genetic testing.  But just looking at Kaylee and seeing others with Mowat-Wilson Syndrome, there is no doubt that this is what she has.  Kaylee still suffers from seizures.  She is mostly non-verbal but understands what others are saying and can follow most simple directions. She is on a 18 month to 2 year old level.  She is completely dependent on others for all her needs.  Mowat-Wilson children are very happy and loving and people just feel good around Kaylee.

Kaylee is the only diagnosed person in the state of Utah with Mowat-Wilson Syndrome that we are aware of.  The syndrome was only discovered and named in 2003 by Dr. David Mowat and Dr. Margaret Wilson.

There are approximately 400-500 people worldwide that have been diagnosed with this disorder.  There are probably many, many more that remain undiagnosed because the Syndrome is such a recent discovery. 

On June 27th-28th, the first Mowat-Wilson Syndrome conference in the United States will be held in Kansas City.  Our family has the opportunity to attend the conference and connect with other families of children with Mowat-Wilson Syndrome.  Even though we would not change our circumstances, our struggles have been many.  We did not have anyone to walk us through our journey.  We would like the opportunity to attend the conference, gain more knowledge of this Syndrome and help others that are walking the paths we have walked.  For more information about Kaylee's syndrome please visit http://www.mowatwilson.org

 
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Organizer

Julie Kendall Pay 
Organizer
Nephi, UT
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