This is Charli. She is almost 3 months old and also has Jacobsen Syndrome. Charli's mom found us through Kendra's blog but unfortunately only after Kendra had passed away. I wish....... well, it would have been so nice to have the 2 of them grow up "together" and for us to compare notes about having a JS baby. They may never even have met because Charli lives in Australia, practically the other side of the world. I have asked Charli's parents to keep me updated on how she does. She is the first baby with JS whose parents have corresponded with me (the others have all been much older children) and I am very interested in her progress.
Charli's breakpoint (section of chromosome where breakage occurs) is 25, Kendra's was 23. They have many similarities, yet Charli seems to have more physical problems, but from what her mom said is progressing quite well with her milestones. Her blood platelets are extremely low as were Kendra's although Kendra's count did seem to come right after a while, only dropping when she was ill. So hopefully Charli's count will also improve with time. The plates in the back of Charli's head have fused prematurely which is a problem as she will require surgery to correct this. We were worried about Kendra's head shape as well but she checked out ok.
Charli also has ptosis of her left eye and they are still waiting to see what has to be done about that, possibly also patching. The physio is happy with Charli's progress and says she has good muscle tone and should do well with a bit of physio. If there is anyone out there who wants to get in contact with Charli's parents they can do so through me. They are very interested in corresponding with other JS baby parents.
On a sad note, Kendra's nanny finished working here yesterday. She has found a good job with a single mom who has a 3 month old boy. I am very happy for her but I think that may be part of why I have been so sad these last few days, much more emotional than usual. Cot is down, baby clothes and bottles and stuff packed away, now nanny gone. Slowly all signs of Kendra having been here are disappearing. Now all that is left are the memories, the photos and the heartache.
I was given a lovely memorial book with a couple of photos and lovely words in it and I plan on learning to do some scrapbooking so that I can fill it with all my best photos of Kendra. I dropped a few hints to my friends and received some lovely scrapbooking things for my birthday so now all I have to do is sort out the photos and find a spot to work. Of course I will have to do one for Branston as well so I think I will be busy for quite a while.
5 comments:
Thinking of you all the time
xx
De-lurking here. I started reading your blog to hear about Kendra's progress, and now check for updates almost daily to hear about your progress. For what it's worth, some stranger here in Chicago is thinking about you.
A stranger in CT, USA is thinking of you, too.
Stopping in here to say nothing of much help, but that I check back often and think of you.
I am a mother of a two month old baby with JS and would love to communicate with you and Charli's parents you can contact me on my email at cevans0018@kctcs.edu
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