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.
Check up DAY!
3 weeks ago