Lily and her friend
I'm not sure how to begin this post or how to even write this. So I guess I'll just start with the facts. About a week ago, the day before Lily's first birthday, we received a call from her geneticist. The results from her genetic testing were in and there was a finding. Lily has a deletion on one of her X chromosomes (at site Xp22.13 to be exact). This was indicative of a documented metabolic disorder called Pyruvate Dehydrogenase Complex Deficiency. The geneticist didn't seem overly concerned. He said she'd need some supplements and frequent feedings to keep lactic acid from building up in her muscles. We hung up and, of course, I began looking for medical articles online.
Here's one. I won't go into all the medicalese. The main point is, it is degenerative, it has no cure, and children who have it do not make it past their teens. There are some therapies that can help slow the progression of the disease but it does not stop it.
We have spent the last week trying to come to terms with this and I can't. Not yet, probably not ever. I'm not sure what else to say at this point, except it breaks my heart. I pray that we can buy her enough time to find a cure, but I know that is unlikely.
There is part of me that wonders why my child? It's not fair. But when I think of it, really think of it, I know that I don't even need to really ask the question. Because mothers, parents, everywhere lose children everyday and it isn't fair for any of them. We are no more special than anyone else.
Lily is beautiful and I hope that we can make every moment she has as full of love as possible.
I wish strength and comfort for you all. And I wish that there will be blessings in this for all of you -- something positive to come to you. We know you are the best family for her.
ReplyDeleteOh, Amy. I have no words. Know that we are thinking of you and wishing you every bit of strength and love we have.
ReplyDeleteAmy- my heart is with you. And with your family. Lily has already taught you/us all so much. Surely because of her you love more than you could before, and so the heartbreak is also multiplied. But in every second the love you have for Lily and she has for you makes the world a better place. It makes our family more blessed. In this painful moment know that we see what an amazing and potent teacher Lily is for us all. I am so grateful you have her, and so grateful for every moment she is with you, and so grateful for her beautiful innocent sweetness. And I am so sorry that part of your journey and her journey is this incredibly difficult. I can't imagine coming to terms with such a thing, but I am a mother and I know you must be devastated. But like a mother you will find that fierce part of you that can do anything for your child and somehow someway I know that you will find a way to find balance in this. And make every moment with her full of this love and strength.
ReplyDeleteI feel lucky to be in Lily's family for however long she is with us. Thank you so much for keeping us all updated, it's really generous of you. Sending you love.
We've been thinking of you and will continue to keep you in our thoughts and prayers. Our family is sending all of you strength and comfort and love. I know you will love and support Lily in every way you can. Know that we are here to support you in any way we can.
ReplyDeleteLily could not have picked a better family to join if she had tried. You and Dan are amazing parents, and Elise is an amazing big sister. May the three of you have all the love and strength you need to go through this journey, and please know that you are not alone, that we are here for you if there's anything we can do to help.
ReplyDeleteOh my gosh, Amy! My heart just dropped into my stomach as I read your post. I know you will make every moment of her life full of love. Sending you lots of long-distance good energy and hugs.
ReplyDeleteHi
ReplyDeleteMy name is Jenna and I came across your site. I know that the news is heartbreaking, but I know that Lily is a fighter, and she has an amazing, loving, caring supportive family and friends. I was diagnosed with a chromsome disorder, which is a form of a bone disease, when I was three months. They say I won't live long, but I have lived over the age limit they thought I would. I also have developmental delays, and major health issues. My disease is degenerative. Lily is a miracle, precious gift, and a special earthly angel. She is a courageous, strong and determined fighter. She is a brave warrior, smilen champ and an inspirational hero. Lily and your family will be in my thoughts and prayers. www.miraclechamp.webs.com I love it when people sign my guestbook.