Thursday, November 20, 2008


So I got a call this morning from Lily's pediatrician saying that he emailed the research Dr. since it had been 3 weeks and she said she had the results and will send him a report in a week or so. But he read me her findings and they said that Lily had a spontaneous mutation on her CDKL5, we don't know the name of the deletion or what Axon (or whatever it is) and I am praying it will be on her report when that gets sent, which Ped says he will forward on to me, but Andrew nor I are a carrier of whatever this thing is! We had no mutations and so the chances of any more kids like Lily would be next to none. Of course there is no guarantee of anything, but hearing that we aren't carriers took the weight of the world off my shoulders. I have been so antsy these past few weeks. My attitude hasn't been awesome and I have been very snapy. I think carrying all the weight of "what if's" was really weighing me down. I feel so relieved. I do hope that the report will have more info on Lily. I would like to have a pinpoint on all this. A name. We are very close. We do now know for sure Lily has some sort of mutation on her CDKL5 and from there I am hoping to learn more. I am wondering if she will get the dx of Atypical Rett. I guess some more wait and see, but we waited 6 years right, I can be patient? Ha!
So I just wanted to share that. With this news I have opted to try a VBAC and my OB is totally on board. I have read just about everything I could get my hands on and I think the benefits out weigh the risks. I will not be able to be induced so I am praying to go into labor naturally (something I have never experienced before) and will have to wait some time for the epidural so to not slow down the labor process and try to eliminate the need of pitocin. The only reason I had an elected c-section with Andi was I was scared to death that a birth injury caused Lily's issues and I would not risk my child again. But I KNOW that was not the problem with Lily and I hated the whole process and the cold feeling of it all and of course the recovery. Yuck.
I still have 12 weeks left and I plan on reading more and finding out more and possibly taking another birthing class... it has been over 6 years! I want to have this baby naturally and I pray I get that chance!
Thanks for all your concern and prayers. I will continue to update when I get that report!

Lend a helping hand?

Lily has had the same nurse for over two years now. She has become a family member to us as she is in our home 4-5 days a week. She is willing to do 5 small shifts when most nurses wouldn't even think of it. She meets Lily off the bus, when the weather is nice they take walks and she feeds Lily dinner and gives her meds. She has been a very special person in all our lives and we all love her. Andi Jane tells her daily that she loves her and I am pretty sure the feeling is mutual. :)
She is like another Grandma to the girls and we feel pretty lucky to have her.

Recently her daughter had a baby girl, Kaiya, that needed open heart surgery and unfortunately she only lived two weeks. The family is having to pay a huge amount out of pocket to lay her to rest. I added a link to donate at the top right of my page to see if anyone would like to help out. I have also linked below to the families site so you can learn more about her.

Prayers to their family for peace and comfort.
Kaiya's Site

Wednesday, November 19, 2008

Still nada

Still sitting here on pins and needles. I'd say God is trying to teach me patience, but I think waiting 6 years for a dx is pretty much a test in patience in itself. I guess on the scale of things 6 years vs. 3 weeks I really shouldn't complain, but I am going batty here waiting.
Things are fine otherwise. Girls are good and healthy. Andi and I had a great time in Colorado, the weather was perfect and it was fun seeing my sister in law preggers. We are less than a week apart. So cool!
There isn't much else to report. I will update when we hear something. I have been on the phone and all I hear is "nothing yet."

Wednesday, November 12, 2008

Lily bug

Lily rode Ruby again without pads on Monday. I just can't believe how well she sits on the horse with no pads! It is incredible! She is such an amazing kid! She has really good days afterwards as well.
She is still having quite a few drops a day and the cluster of myoclonics. I am not sure what we'll do. I'm not adding a med, so I guess not much. She gets over it quick and like I have said a million times, we'll take those over GM's any day!
I really don't have much more to update. She is doing well, her nose is runny again, I should have never said anything. But otherwise she is eating great, pooping great (with no assistance, that is huge!) and sleeping great. And she is always adorable. :)
Andi Jane is doing well. She is growing like a weed and surpassing Lily at that age. I am shocked at how big our AJ is and wonder if she'll surpass me (5'11"). Everyone who meets her asks if she is 4 or 5. I think since she is so big and her vocabulary is so large people expect a little more from her than she has to offer. She is bright, but no where Kindergarten level and people talk to her like she should be. I am seeing my past in her future. Pants all too short. Being called bean pole and all the fun things kids can call the tallest girl in their class. At least she is a toughie and can stand up for herself better than I was able to. She is going to be a remarkable person, as long as we all survive her childhood years... that child is strong willed! But so fun to raise. She really is. I've never met another person like her and I think that is a good thing!
The baby is growing and growing! I need to get some new belly shots on flickr, I'll get around to it, promise. I see OB next week and I will get one more ultrasound since I ask for them. I really like to check head growth. I know it really isn't much of an indicator of anything, but I feel better to see the brain and see it growing.
It has been a week since I got the email saying 1-2 weeks so I am praying we will have no more than a week to wait for our results. I really, really want to see these results.
Daddy and Lily are going to Greer this weekend and Andi and I are going to Colorado! It might be a bit cold, but that is ok! I'd like to break in my new Uggs and I can't do it here that is for sure.

Tuesday, November 4, 2008

Small Update

So last week I emailed the labs at University of Chicago and a sweet girl there said she will do her best to keep me informed. I just got an email from her that said this:

"We have found something in the CDKL5 gene in your daughter that may possibly be the cause of her problems. We are still conducting studies on you and your husband. When those are complete, in the next 1-2 weeks, we will issue a new report to your physician. I’m sorry for the delay, but we should have some news for you soon"

So that is where we are at. I guess Lily's issues are within the CDKL5 gene and we just don't know what they found. Looks like we have another week or two to hear about Andrew and myself. Just goes to show, it never hurts to ask.

Continued prayers would be appreciated as we wait for these results.

Go Lily, Go Lily

So yesterday we went to Hippo therapy (horse) and after grooming and getting out to the arena we put Lily on the horse and we both (PT and myself) thought something looked weird. Then PT says, "we forgot Lily's pads!" I said "wanna hold her and I'll run and get them" she said "no, let's see how she does". A little nervous (me), we started walking and wouldn't you know it, Lily stayed on the entire time, over 30 minutes! I felt like Lily needed a seat belt of some sort, she just looked so big on there with no support! But not only did she do it, she did it well. It was incredible! We realized Lily only seemed to need that support because she used it because she had it. We always knew that about Lily, if you sit behind her she will lean, if you don't she'll sit on her own. Same with the horse. She was super tired afterwards, but that was amazing! Next week I will bring the camera.
She is always amazing us. Maybe I will just let go of her while standing.... just kidding.

Popular Posts