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!
Check up DAY!
4 weeks ago