Kleefstra Syndrome

Last Friday, we received a call from a geneticist that looked at Layne while she was admitted to Primary Children's Hospital. We had been concerned about her development and abilities already, but he decided to do some genetic testing after several questions and physical exams where done. To sum up the results of that genetic testing, Layne's just been diagnosed with a very rare genetic disorder called "Kleefstra Syndrome," a problem with the 9th chromosome. It has only been discovered over the last three to five years due to advances in the way chromosomes can be examined and studied, and because of that, Layne is one of only a small number of people to be diagnosed in the world, the first seen at Primary Children's. There are some specific issues that result from this, which you can read up on more fully, if interested, by doing a search for Kleefstra Syndrome on the internet. That'll save me a lot of time a detailed explanation, but what it all comes down to is that, from what is known, she will be facing some physical and mental disabilities throughout her life, which we feel blessed to know about and encouraged to help her with. Some of the feature of this disability include:

Developmental delay

Learning difficulty or disability

Recognisable facial appearance

Low muscle tone

Possible heart conditions

Sleep difficulties

Seizures

Behavior difficulties (similar to those with Autism)

Strabismus (the syptoms she has already shown with her eye sight)

Slightly unusual hands or feet

Hearing impairment

Kidney anomalies (which we have already ruled out for her)

Connective tissue disorder

Patches of lighter skin colouring

Dental anomalies

Possibly, overweight

Layne fits a lot of the symptoms, and not so much the others, but she will be needing extra help from professionals, and family alike. We were quite relieved to find out that there is help for her, what the condition is, and that this is managable, at least from what is know to date. She's one special girl, and we value her and all of our children. We have hope for the future, and know that she's come to us the way that our Father in Heaven meant her to, that with His help, all things are possible.

We found all of this out early on Friday morning, and then decided to make the most of the day by wandering around Temple Square with the kids, enjoying some Mongolian BBQ and all-you-can-eat ice cream (especially Luke!), and an afternoon at the Orem City Park. Since Koria and Kimball zonked out on the trip home, we treated them to a late-night movie of "The Empire Strikes Back." They are now convinced that they are Han Solo and Princess Leah. I caught them pretending to call each other on make-believe phones yesterday while they were playing outside, using the names Han Solo and "Princess," as Koria prefers to be called. They really have an imagination. They've decided that Star Wars characters will be a good theme for all of us this year for Halloween. We'll be sure to take pictures.

Thanks for all of the prayers and support on our behalf. We've found peace over the last couple of weeks, due to our own prayers and many of yours, the temple, scriptures, and the gospel in general. I have a new theme for life. I messed up some wording while offering a prayer this past week, and accidentally said, "I have faith in life before death," instead of "after," but caught myself and started to think, "It's as much about having faith in life here and now as it is having hope of a perfect life to come. We're going to try and live each day to the fullest, enjoying each step in the journey. Hard to say when five loads of laundry still need to be folded, kids fed, changed, etc., but each day offers some spark of happiness if we'll let it. Hope you join us on the journey.