Just when you are going along swimmingly, the phone rings. (OK, in all honesty we weren't too swimmingly today. The girls were bugging each other all day and Elaina was having a rough wake up from nap. Tears, needing to eat dinner practically on top of me, wanting milk, no I don't, yes I do. You get the chaos).
OK, now the phone rang. The caller ID said Nemours Foundation- an ID we would rather not have to deal with ever again, in all honesty. It was Ava's Neurologist. I extract myself from Elaina to take the call (cue screaming teething 2 1/2 year old in the background).
Ava's results from the muscle biopsy testing that was delayed is in. Our dear sweet baby girl not only had a Complex IV Deficiency, but a Complex I as well. Apparently Eric did as well, but we didn't know that until today. Her mitochondrial depletion in muscle studies came back. Ava only had 7% of her mitochondria. She was 93% depleted. Eric was 99% depleted.
I knew it was bad. DUH, do I have two of my five babies? I knew that Eric's results were so incredulous that the Geneticist at CHOP wondered the validity of his testing. They did not think that he should have even been alive at birth. So folks, here it is. We have two awesome kids in Heaven who seemed to defy some odds.
How do you live with only 1-7 percent of your energy makers? Why do you live that way? This news is so fresh it hasn't even sunk in yet. I'm sure it will take a long time to get through some of the questions that are forming a funnel cloud in my brain.
We are so glad to have the opportunity to meet these heaven bound bugs, but right now I wish I never ever had to care about mitochondria, DNA testing and all the other meetings we are going to have to have. I just want my miracle babies who never should have lived at all. (At the same time I am glad to had them while I did).
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Scientifically, very interesting. Also, super sad. Grieving with you.
ReplyDelete-Erica
so much to take in. and nothing changes the fact that they are both gone from here where we somehow thought maybe they could be helped somehow. . . another big why for God someday, He knows, He cares, He will continue to carry you. Hang in there and when you feel yourself starting to slip and sink, remeber Who is there to catch you time and time again. I'm still just so sorry this is your burden to carry and yet God ordained it so. . .yeah, hang in there. (((hugs))) kim
ReplyDeleteIn a far less scientifically significant case, I can remember things hitting me for months after Matthew's death -- the ambulance bill showing up in the mail (I knew they had to be paid, but somehow it didn't seem fair to have to pay that bill when he DIED), the autopsy report coming back, the Air Force inspectors who for some reason felt the need to re-question me two months after his death even though the local police had closed the case (they always investigate when a baby dies at home), the year-long wait for the Air Force report and the feeling that it was dredging up everything all over again. I even found his hospital discharge papers from his birth something like three years later, and it still took my breath away. It gets better. I know you're already aware of that. But it takes, like, five years, and I know you know that, too. It seems like such an awfully long time for you to have to wade through all this again -- and maybe worse because now you know how long it will take and how hard it will be. Your three bugs at home will keep you putting one foot in front of the other. The Lord will see you through, and He loves you. You have a multitude praying for you. From Becky Sodergren
ReplyDeleteIt is all so miraculously beautiful and sad at the very same time. Mary T.
ReplyDeleteso sad for you. Words cannot express what I feel. Just know prayers flow from the heart for all of you.
ReplyDeleteStill praying. thank you so much for sharing. God has given you a special gift.
ReplyDeleteThanks for keeping up with the blog...thinking of you.
ReplyDeleteCindy
It must be so hard to deal with the aftermath of Ava's illness, realizing how sick both she and Eric were. I'm thinking of you and your family all the time and sending good thoughts your way.
ReplyDeleteDenise Avnet Adamczyk
Keeping your family in my prayers...
ReplyDeleteI was reading an article on this disease just because I am curious about it now, never having heard of it before knowing your story. I can't help but think at least your babies did not suffer like this girl.
ReplyDeletehttp://www.associatedcontent.com/article/36686/brittany_wilkinson_a_poster_child_for.html?cat=52
I know this does not make missing them any easier. Thanks for continuing to share!