Kate

First,  Kate's favorite color is pink,  hence this blog color.  I have started this blog at the request of others who would like to be kept up to date about our family's health.  So, here goes.  Kate most likely has Marfan Syndrome.  You can read about it here : Marfan Syndrome.

As you can see,  it affects many parts of your body.  So far,  it is affecting Kate's eyes and heart.  The eyes.  She has dislocated lenses in both eyes.  They lenses are currently down and to the left, I believe.  She has gone through many pairs of glasses in the last year which prompted me to take her to see my cousin, Jed Poll,  in Utah.  He dilated her eyes and found the problem right away.  I have since learned that her regular optometrist had never before dilated her eyes.  Make sure your eye drs. are doing that for your children.  We found this out at the end of June.  I then made appointments for her to see a cardiologist and a geneticist.  She will need surgery on both eyes sometime in the near future.  We are waiting to hear from her eye surgeon on timing right now.

Heart.  Awful day at the cardiologist.  She had a cardiac echo, EKG, and chest x-ray prior to seeing the Dr.  Her aorta is enlarged.  Everything else looks normal at this point.  She is not so enlarged that we are looking at surgery anytime soon,  but she will be monitored for the rest of her life with a yearly cardiac echo.  She will also be starting on a medication that is in it's trial phase that will hopefully slow down the progression of her aorta enlarging any more. She will have another cardiac echo in a few months just to check to see how fast the progression is.   Fingers crossed.

Her cardiologist is Dr. Grossfield who works with other families who have Marfan Syndrome.  He is at the children's hospital here in San Diego.  We liked him and have confidence in his care.  

X-ray.  The chest x-ray showed some small scoliosis of the spine.  She will go and see a pediatric orthopedist later this month.  I will update what he says later.

Geneticist.  Marfan Syndrome is usually inherited from someone.  We talked to a geneticist on Tuesday the 11th.  She said that Kate did not fit the skeletal profile for Marfans,  which is good.  She is really tall, 96th percentile,  but her arms are not that much longer than her length,  within cm's.  That is good.  She couldn't see any outward sign of scoliosis, also good.  She is ordering a blood test to check for the Marfan gene.  If she comes up positive,  they find the gene,  then Ethan will be checked for it.  If Ethan comes up positive,  Abby and Noah will be checked as well.  If Ethan comes up negative,  I will likely be checked.  Although,  given my lack of height,  she doesn't think it's from me.  She is actually leaning that Ethan doesn't have it either,  but that Kate is one of those genetic anomalies that just occurred.  We will know when we get the blood test back.  The kicker is that the test is very expensive, $1500-$2000,  so we have to wait a few weeks to get insurance approval.  Once she has her blood drawn,  it will take 8 weeks to get the results.  The waiting begins.