Thursday, August 27, 2009

Network for undiagnosed families

As I snuggled up to Katie this morning and looked into those big blue eyes, I couldn't help but wonder. Of the children I'd come across through talking with other parents, especially networking online, how many had received diagnoses since then? I remember excitedly sharing photos with one adoptive mother whose daughter looked remarkably similar to Katie. Especially her uniquely shaped brilliant blue eyes. I realize that I need a bigger "net" and to have much more follow-through in finding parents with similar kiddos.

Which lead me to another, slightly more amusing curiosity: What other quirky kiddos are out there? Katie has the most amazing if not mildly disturbing "double jointed" fingers. She can bend them back perpendicular from her palm under her own muscle control (without pulling or tugging them backward). She does this regularly. I swear, her thumbs don't even seem to have bones in them! I looked up double jointedness and genetic disorders this morning and couldn't find anything terribly useful.

The not so new idea or suggestion for testing for Katie is Rett's Syndrome. She would be an atypical case because she did not have regression, but was simply behind from the get-go. She also does not have any trouble in the head growth department (that's a family genetic um, blessing!) . The midwife said Katie had the 2nd largest head she'd ever seen delivered vaginally--not that I'm bragging!! She does have the autistic like features, seizures, and some other traits though. It sounds like the 2nd X chromosome can cut in and out with the affected X chromosome so it isn't completely predictable as to where the disorder will appear, though there obviously is some pattern. I laughed when I saw the post on the site about being an expert in programming DVDs and other movie related devices. Katie sure loves her "toons".

So that is the first test I am going to request as I find her a whole new army of specialists here in our new big city. I am excited that we are close to a top-ten children's hospital for neurology. Hopefully they will be equally adept at genetics! We shall see.

Another thing I'm working on is setting goals for myself rather than for Katie's progress. I can't measure my success by whether or not she walks or speaks. I can only set goals for things I can control, such as how much I am going to work with her each day, how often we go for walks or a swim in the pool. I want to feel successful and I think measuring my success by Katie's milestones in the past was a huge mistake. I am also remembering to find time for me, a long hot shower, or my embroidery which I'm starting to really enjoy--not so great at it but I do enjoy it!!

Having a child with a disability is not the end of the world, but it is a different world. I have gone through so much as I have worked through my emotions. I wish I had sought out more support from those in-the-know, but maybe I can help others someday who don't know where to reach or who to ask. I know there are some people who hate the "Welcome to Holland Poem" but when I read it I take the following interpretation: This is NOT the club I wanted to be in, but I have met some of the most wonderful people whom I would otherwise not had contact with if it were not for Katie's disability. I can still stomp my feet and complain that I don't want to be here, but I know that it has humbled me and tested me. I appreciate so much of the little tiny things about life that I may have otherwise overlooked. Like conversations about poop, Katie's finger's in my mouth, and the ridiculous grin I get on my face when I hear a small child talking.


  1. Hi Kayleen,

    I read your post and can relate greatly to your experience. I was the same age when I had my daughter who has many challenges and no diagnosis that sums it all up. Years ago I was wondering the same about others in a undiagnosed situation as myself, that is when I started a website and egroup for our population. It is still hard to find but we are getting the word out. I eventually turned the group and website into a non profit, called Syndromes Without A Name.

    I just wanted to let you know that there are others out there. I would love to talk with you sometime.

    Amy Clugston

  2. Wow... That is awesome! I will check it out right now! I'm so glad you found my blog!