Wednesday, December 8, 2010

Metachromatic Leukodystrophy

That is our tentative (95% sure) diagnosis. Liviana's enzyme tests came back showing a deficiency in the Arylsulfatase A enzyme. Further tests are being done to determine if this is indeed MLD (checking the levels of sulfatides in her urine) or a pseudodeficiency.

I fully expected this diagnosis. She symptom-wise fit MLD the most. It still was hard to actually hear it finally from the doctor. I spent so much time day dreaming that they would tell us they were wrong and something treatable was causing her demyelination...a random virus, autoimmune disease...anything treatable. Liviana unfortunately doesn't fit any of the criteria for bone marrow transplants or other experimental research because of how far she has progressed with the disease. She would likely see a speed up in deterioration if we attempted BMT or experimental treatments on her and we of course want to maximize her time with us.

We don't know what we will face. All MLD kids are different. Her nutrition is very important to her health. A fever could cause a rapid deterioration. Unfortunately Giovanni has had a fever on and off for 3 days and Aria had one this morning. So far Liviana is fever-free. She is going to get reallly tired of me coming at her with the thermometer.

We went to her PT appointment afterwards and attempted to try out a walker for her. After 3 hours at the hospital though she was exhausted and just wasn't having any of it so we will meet again next week and hope to have her more rested so we can see how we can help her with her mobility. She isn't walking anymore but she scoots and sometimes crawls. We need to keep her legs moving and allow her to maintain some of her independence.

Giovanni was tested this morning and we hope to know the results of his enzyme test by next week. I honestly don't feel like I can function until we get those results. I don't know if there is enough strength in the world to get me through a positive diagnosis for another child. He has a 25% chance. Like I said on the last post...a 75% chance of not having it would have given me comfort a few months ago but Livi has always shown us, someone has to be in that "rare" group and it may be us. I may end up testing Aria and Miles as well for peace of mind even though they would have almost definitely had the same late infancy onset. There are case studies with variable onset so that is enough for me to worry. If Giovanni is positive he has different treatment options than Livi since he is presymptomatic. Let's hope and pray we don't have to worry about any of that.

I am emotionally spent. I don't eat when I am emotionally stressed like this and I have had nothing to eat today and strangely don't feel hungry. I still have a nursling so I know I need to eat...dinner is already on my mind.

I am so overwhelmed by the wonderful friends and family in our lives. Our church, Our Lady of Lourdes, has been amazing. We have instant family with them and have had help with meals being brought over, picking up kids from school and playdates for Aria or Miles. Our babysitter Tarah is absolutely priceless and we could not have faced any of this without her. Her sister was also able to come over and help this week when she was working and we had to go to the hospital for appointments. Jennifer Hendrickson has organized friends and family to help with various things from Christmas to vitamins for Livi. How absolutely humbling and wonderful everyone is. Liviana brought us to Omaha in the fall of 2007 with her CDH diagnosis and she must have known what a wonderful place this would be when the trials got even more difficult than before.

Liviana is much loved. Jennifer coined the term, "Liviana Lovers" today and I think it is appropriate. I know she feels the love and gives it back to all.

The days are more challenging around here. I hug and love her and wish I could take it all away for her. I am not sure exactly how the balance between her care, the other three kids and daily life will all work out but I am trusting in the process and having faith that I will be able to handle it all with grace and not an insane, raging, screaming madness :). An evening glass of wine is my friend (thanks Judy Robinson for the latest bottle :)).

More soon. Hug your babies! As I hit Publish Liviana sits next to me saying, "Me Awesome". Yes you are my sweet...yes you are.



Daan Suhr said...

Hi Amy,

We are so sorry to learn about Liviana's tentative MLD diagnosis. We're connecting you with other MLD families throughout the world via the MLD Foundation's MLD Family Discussion List™.

I thought I would provide this link so your friends and family could learn more about MLD.

Dean Suhr
President & Co-Founder
MLD Foundation

Jen said...

So sorry to hear this news! Praying for Livi to stay fever-free. Your family is always in my thoughts.

Dotty said...

Liviana IS awesome! I'm praying for you! Y'all cross my mind at least a dozen times a hour. Sending you strength, to endure whatever comes in your path, love so you know your never alone. Liviana had a plan from the beginning to get you exactly where you need to be, livi is wise beyond her age!

Tricia said...

Thank you for sharing your feelings as well as the updates. I know you well enough to know that you will celebrate every moment of her life. I just can't imagine how much your heart hurts. :( Livi is such a special little girl. I am praying for both her and Giovanni as you wait for the test results. HUGS from California!

Betsy Dellinger said...


My heart is constantly with you and Livi, even now at 3am, I am up praying for you both. There are so many times I'm not even sure what to pray, so I'll definitely pray that Livi will be protected from the fever. I know when Ned had his near drowning incident and we almost lost him after the CDH, I was so bewildered at "why" the Lord would have brought us through such struggle only to have everything fall apart in the end. The night before Ned's accident, I stayed awake all night and read a book, "The Hiding Place". It gave me such perspective in such a terrible time....true story about the miracles God performed in this lady's life during her time in the German concentration camps. I just kept thinking back to that knowing that God has purpose and can work in the worst of situations. I believe He can still work in Livi's situation and I am praying that you will see His mighty hand and feel His presence. Much love from NC.

Lux said...

Amy, my thoughts continue to be with you, Livi and your family. You all are surrounded by lots of love and support. I think of you and Livi often. My heart goes out to you.

Wendy said...

Liviana definitely gives the love back 10 fold. The other night when she was sitting in my lap playing peek-a-boo and giggling, I could honestly feel her love and joy radiating out of her little body. I didn't want to put her down, I could have carried her around all night. Thank you for sharing that little angel with us all.

Liz and Shane said...

you are in our prayers.

Kara said...

I came over from the Maternal Lens blog to read more about Liviana's story... please know that you, your family, and adorable little Liviana is in my prayers!

LK said...

I found my way here via the maternal lens, so we haven't met, but I am sending up prayers for Liviana, for your son, your other children, your husband, and you- for strength, love, hope, and healing, and most of all joy. My family will be praying. xo

Michelle Pixie said...

I too am here from TML and I just want to let you know even though I have just heard of your Liviana she has already touched my heart. I will keep you all in my thoughts. Many hugs to you.

April Williams said...

I just found your blog through Maternal Lens. I am praying for you. My heart is with you. My prayers will not cease for your whole family.

Fer said...

She is awesome! And you are too Amy. I keep you and your family in my thoughts and prayers!

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ksnvrk said...

I am really sorry to hear this.

I know this is very late to respond on this link. I was looking for MLD related information, got this link. Don't know about current condition of Livi.
God bless her.

Actually, My 1 year 5 month old kid is also suffering from MLD and he is getting on and off fever for 2-3 days in a week.

We ran out of tears as we are loosing hope. But this is really big pain. I know as I am facing it.

God bless your kids.