Friday, August 4, 2017

Kenzie Update

Thursday was yet another trip to see Dr Rodan at Boston Children's Hospital.  As the appointment was at 830 we left the house early and drove down.

There is not much news at this point.  The Dr is fairly certain from the genetic test results that Kenzie is most likely being afflicted by a change in gene VPS13D.  There is not much known about this gene, but other genes  in the same family do affect movement.  A worldwide search has turned up at least 5 other candidates with variations in this gene and with symptoms similar to Kenzie.  There are a group of researchers currently working on and reportedly they are close to publishing a paper in the next six months.  Not exactly sure what this will mean for Kenzie yet.  To determine if Kenzie is definitely being affected by this gene will take some time.  Kenzie will need to have functional testing done, and I apologize but we really aren't sure yet what that entails but I believe it involves testing the gene from her blood.

Kenzie will also be seeing a new specialist on her next visit to Boston.  It is a Dr from the orthopedics department who specializes in cerebral palsy, which Kenzie does not have but has expertise with extra movements and will help make sure medications and physical hardware such as braces etc are on track. He will be part of a team including Dr Rodan that will be caring for Kenzie.

This past week we were also finally able to meet with a speech therapist for Kenzie here in Scarborough.  More of a meet and greet but starting next week Kenzie will have more thorough evaluations and speech therapy will begin.  The process has also been started through Child Devleopment Services which falls under the umbrella of the Department of Education here in Maine to get Kenzie evaluated to see if she qualifies for preschool that would assist her with her specific needs.  There is a place here in Scarborough called the Morrison Center where Kenzie is getting her speech therapy where we hope all of this will happen.  If it all goes well we will move her physical and occupational therapy there as well.  These services are designed to get Kenzie ready for school whether traditional or not.  Involves making an Individual Education Plan for her to specifically address her.  The teacher or counselor ratio varies greatly here depending on need and can even be one to one.

That is the most I can think of for now.  We will return to Boston on November 9 for two appointments.  With any luck we will spend the night before after or both down there because the travel can be wearing at times especially when getting Kenzie evaluated can be tiring as is!!!  Any questions shoot us an email or text....not always easy to explain all at once. ...Thanks !!!

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