Berlin has completed Cayden’s genetic testing for Multiple Pterygium Syndrome and no mutations were found in any of the five genes tested. What does this mean? Best we can tell, Cayden did not have Multiple Pterygium Syndrome but most likely died from Pena-Shokeir. Pena-Shokeir is not a disease but a phenotype, a cluster of symptoms resulting from decreased movement in utero. There is no genetic test for Pena-Shokeir. Studies suggest that some cases are sporadic and are some are autosomal recessive; we will never know whether Cayden’s case was sporadic or recessive.
There is some relief in having closure with Cayden’s testing. All we can do now is hope that Cayden’s case was sporadic and that it’s something we’ll never have to worry about again, however naive that hope may be. But we also can't forget that, as Angie so perfectly put it, "the world is a random, chaotic shitstorm, and sometimes you get caught in the eye of it."
12 comments:
Paige, I wont try and make sense of it as I'm sure you can't either.
But know there are so many women here pulling for you, and thinking of your sweet little boy.
xo
oh paige,
glad that there is some closure for you. and some relief too. and wishing that it was all very different.
by the way i just said that exact quote of angie's last night...it's a good one.
hope that this was our one time of getting caught in the eye of the shitstorm. here's to a brighter future.
sending you love
xox
Paige, It's amazing to me how the answers lead to more questions. Sending love and hugs as always
Sending hugs and thinking of Cayden with you.
Paige,
I am glad that you have some closure. I know that it does not make Cayden's loss any easier. Cayden will always be with you and no child will ever take his place, but I do believe that when the time is right, you will be a mother to another child. There were days that I thought I would never have another child after I lost my son, and now I have my 2 daughters. I still think about my baby boy a lot, and neither Talia or Mira can take his place or erase the loss, but life will get easier and there will be better days ahead. I can't wait to see you and give you a real hug and not one over the internet.
Lots of love,
Karen
I remember the "results" day all too well..... exhausting and so very difficult, but somehow peaceful to finally get some answers.
Wishing you brighter and more peaceful days.
Paige,
I made a pair of Angel Wings for Cayden. Please have a look at the Angel Wings Boutique on my blog sidebar.
If you would like the original mailed to you, please send me your address and I would be happy to send them to you.
lcreeves3@hotmail.com
Love,
Lea
I'm glad that you have somewhat of an answer finally but I know that doesn't make any of this any easier. Thinking of you lots and sending you love and hopeful wishes!
Love
Lisa
Paige,
It's good to hear that you finally have news, after a very long wait. I'll continue to be optimistic with you, regardless of how naive it may be. I'm hoping this means only good things are in store for the future. Thinking of you often and sending love!
xoxo,
Chris
Paigey, So glad you finally have some answers. Hoping for the best in the future. Sending you lots of love. xoxo
Paigey, So glad you finally have some answers. Hoping for the best in the future. Sending you lots of love. xoxo
You definitely got caught in the eye of the storm. I am glad that you got the results back and have somewhat of an answer. Thinking of you all the time. Love,
melis
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