Wednesday, December 1, 2010

*Sigh*

Brilliant title, huh? I couldn't figure out what to title the post and I doubt you really want it to say the first thing that comes to my mind for how I am feeling.

I wish I had a ton to update. We are waiting on doctors and labs still. I contacted the Metabolic clinic first thing Monday morning since I was told that if I hadn't heard from them in 7-10 days to call them. Of course...I hadn't heard a thing. I know that the genetic testing will take a while to come back but still expected to be contacted. Afterall...we left the hospital with a basic "your child is dying" diagnosis. With that diagnosis came a simple, short one sheet Discharge Instructions. I found such irony in the simple, "call these people", "watch for fever", "bathe as normal" instructions with such a horrible, terminal diagnosis. When I did call I was told they would see her on January 11th. Really?....you don't want to tick me off people. I told the woman clearly and directly that was NOT an option and I needed to speak with someone else. I was finally contacted back and told that the doctor said the Lysosome count tests would not be back until Friday and genetic testing the following week. We will see the doctor next Tuesday for the Lysosome results, followed by her Physical therapy appt...Her occupational therapy appt is this Friday.

In the meantime I contacted a doctor in Italy who oversees clinical gene therapy trials for Metachromatic LD. We do not know what type she has at this point and all LD's are vastly different causes so the type she has is more relevant that just the Leukodystrophy label. Metachromatic however is one they were leaning towards so I want to be ahead of the game when we do get diagnosis. The doctor in Italy feels that based on Liviana's clnical presentation she is too far past their protocol for "pre-symptomatic and early symptomatic". She did urge me twice however to get Giovanni tested ASAP because if he is positive (he has a 25% chance) he would qualify. This is of course all IF MLD is the diagnosis. I surely would have to be put in a looney bin if a second child was diagnosed. I truly cannot imagine my own upcoming pain with Liviana's journey, let alone seeing a second child go through this. I used to take comfort in statistics...that was before my own child faced first, CDH and now a 1 in 100,000 genetic disorder.

Liviana has her ups and downs. I have been able to identify some benefits of Vitamin B12 for her and there is quite a bit of research related to B12 and myelin. Anyone who knows me knows that I am on a far end of the natural spectrum . I turn to nature for much of our health related issues and it has always served us well with childrden who are rarely sick. I of course recognize the role of modern western medicine but I am not egotistical enough to not recognize that there is an entire world of natural approaches out there, other approaches to health and medicine from other belief systems and undiscovered cures and benefits in nature. Livi is getting healthy doses of D3 and Omega 3-6-9 as well as the B12. There is a marked difference in her following the B12. It is a mental and phsyical difference we see for several hours after supplementation. The role of B12 in the nervous system is pretty well documented medically. Modern western medicine doesn't have a cure for what she has but I am not going to sit by and not research and learn all I can to help her on my own.

Emotionally Brad and I have our highs and lows. I had a hard time the other night when I realized that Aria would grow up without a sister. I have said to her many times how lucky she is to have a sister since I always wanted one growing up. I imagined them sharing clothes...and fighting over clothes and being a support for one another as they grew up and navigated the world before them. I took Liviana to bed that night and told her a story about going to the zoo and she cheerfully made the cutest monkey noises you could ever imagine. I want her to LIVE! I filled her pillow with tears that night as she fell asleep just as I am filling with tears now typing this. Such deep profound hurt for my baby.

I still remember the day I brought her home from the hospital after her winning battle against CDH. The emotions after half of a pregnancy worrying that she would not live and the month in the hospital, standing over the machines, cringing at each beep and wanting nothing more than to pick he up and run from the machines and doctors, came out her first night home as I laid there just looking at her, smelling her and loving her. Not a single day has gone by that I haven't thought of Liviana's time in the hospital and her strength. It is hard for me to now wrap my head around what is happening to her. Why her, why again, why why why?

I could ramble forever but I have a lunch to figure out for my awake kidlet, Miles. He adores his sister and has wanted nothing more than for her to be able to run and play with him. All of our kids are amazing, wonderful blessings. They get me through the day with smiles and laughter and even during the trying times of petty fights over toys or whining I still know at all times that I am the luckiest mom in the world.

I will update again soon. Thank you so so much for your kind acts, donations and words. I honestly cannot imagine going through this without the love and support of all of the family, friend and strangers we have never met. I hope Liviana inspires you all and I wish so much that each and every one of you reading this could meet her and see that sweet face. She is a captivating child.

Hug your babies!

Amy

14 comments:

Vicki said...

Praying so hard that, if it does come back MLD, G is negative.

Tons of hugs.

Anastasia said...

Amy, I am crying reading this. My heart aches for you all... I wish there was something I could do, beyond words, to help you. You are an admirable and amazing mother.

Much love, hugs, and prayers from all of us to you, and to sweet Liviana, who is already an angel.

Nicole Sadowski said...

Amy, I just cant tell you enough how much I love you and your family. My heart just breaks everytime I think of what you're going through. I wish there was something more I could do for you. Words feel so empty. Please know that you are always in my thoughts and prayers. If there is anything at all you ever need, please let me know.

nikki said...

Hi Amy-

My name is Nikki and I was told about your blog by a friend of mine. My daughter, Eliza, was diagnosed with late infantile MLD over three years ago and she will be 6 years old in March. I know the frustrations and heartache you are feeling right now. I had never felt anything like it.

We definitely don't have all the answers but we have been going down this road for over three years and we have learned A LOT. If you ever have any questions or just need to vent, I would be happy to be a listening ear.

Here is our daughter's site if you are interested in learning more about her story. www.elizaswish.org

Our thoughts and prayers are with you and your family. Hang in there!!!

Dawn said...

Amy, wish I could hug you, though I know you a hell of a lot more than a hug. Praying for a miracle for Livi and a negative test for Giovanni. Praying every day for all of you.

Anonymous said...

Please check out Duke's Pediatric bone marrow transplant program. I am not sure if she would be to far progressed to be a canidate or not, but if your son has the same disease he definately would be a canidate

Emily said...

Thinking of you every day, my heart and prayers go out to you and your lovely children. ((hugs))

Candice and Rob Beal said...

I"m still praying for you and your family. What a beautiful little girl she is. I did lose my child to cdh but i never thought he would die, and we all had a 50 50 chance for our babies...So what you are going through is sooo so different and much worse in my mind! Jackson was just a little baby that couldn't walk and do much yet.....from what i've read what she has is just so awful and not fair!!!!! I am crying for you! Why her why again! why anybody thats what i'm asking......I'm going to pray for a miracle, really i believe in crazy miracles and in jesus name a miracle will happen. I am so sorry sweetie, and i'm here for you as is everybody else. I can't believe everything that i read on your post, so i know you are the same why when the drs tell you these things about your own child...but times 10. I'm going to put your name on my church list for prayers..its a huge church and if anything maybe the prayer will help yall through this all. God Bless

Dotty said...

Our prayers are always with you guys.thank you for sharing her story, the ups and Downs, my heart breaks for you. Still spreading the word, raising awareness, bringing more prayers.
A friend who is praying for livi sent a msg to me about breastfeeding helping with some of the symptoms/and issues....ill post the link.

http://calgary.ctv.ca/servlet/an/local/CTVNews/20101130/CGY_milk_donations_101130/20101130/?hub=CalgaryHome

Sara said...

Amy, Im speachless. Literally! Ive started and deleted probably 8 sentences before realizing .. all I can sau .. is to let you know that I will be praying for Livi .. for a prolonged and painfree, happy life ... and for a cure!
I am so sorry. Im in tears thinking about how you and Brad must feel, trying to imagine what would happen if I was losing my baby girl.
Livi is so lucky to have you as her Mommy... and visa versa, because I know that you will fight for her.
many hugs and prayers!

Betsy Dellinger said...

Amy,

I am so sick to my stomach to know that your family is having to face this. I am just so sick and so sorry. I think of you and Livi often since she was born so close to the time that I had Ned. I am crushed when I look into her beautiful face, especially those eyes with the long lashes. You know there is absolutely nothing I can say to make you feel any better right now, but I will be praying fervently. I believe in the power of God and I believe in His grace and mercy. I will be praying healing, grace and mercy upon your family. I promise to pray fervently and relentlessly.

Anonymous said...

Amy,

My heart is breaking for you. I've seen senseless tragedy and experienced great sadness...but the fear of the unknown is like a thorn that keeps working it's way deeper into the soul.

You're strong. You're so bright and you have been such a light for your beautiful family. No matter what happens, all of your babies will always know that they had the most wonderful and loving mother. Your strength will be a beacon for them as they grow and face their own struggles.

I feel so much love and a sense of protection for you and your family...I've never met any of you, but I feel this strange sense of family.

Please keep your head up but also remember that it's okay for even the strongest to occasionally fall and drop the weight of the world.

All of my love to all of you.

Lacy Hilliard said...

The above comment is mine...I guess I clicked anonymous. Oops.

Fer said...

Amy, I have no words to express how I feel after reading your post. I wish I had a cure, a miracle... All I have is my love and support.

I am praying for you and your family.

Love,
Fer