I hope you all had a wonderful Christmas and New Year. So many wonderful people, some we know and others we have never met donated and went shopping so our kids would have a wonderful Christmas and take the stress of the holiday shopping off of us. Our kids had a wonderful morning and just seeing the smiles on their faces and excitement (which for Miles comes across as non-stop chatter) was enough to, for one brief moment, take my mind away from all of the fear, sadness and anxiety of Liviana and Giovanni's diagnosis. The kindness of everyone really is very overwhelming and means so much more than anyone could ever imagine.
Liviana started getting sick the week before Christmas with what seemed to be just a nasty runny nose...the typical winter cold. By Christmas weekend however she was running a fever and pretty much unrecognizable as herself. I medicated her fever immediately since for her, we know that it can precipitate a rapid deterioration. We attempted to give her a bath, a favorite activity of hers on Sunday (the 26th) and she cried through the whole thing and could not even sit in the tub because her tremors were so bad. It was painful to see. Her fever lasted on and off for only a day and a half and she is slooowly getting back to "normal". She had a successful bath yesterday and splashed like she used to. I was so glad to realize that it was her being so sick that made it so difficult last time.
I was so happy to get this smiling photo during the 10 minutes of sun she soaked up in the 65 degrees on New Year's Eve.
Since her mental decline started she has decided that the playroom is her "comfort zone". She always wants to be in the playroom, watching Calliou. Those who have known me for a while know that I could not stand Calliou. I thought he was whiney, annoying little child and I used to change the channel each time it came on. Go figure it would become Liviana's obsession. I have to admit to not even minding the whiney little Calliou much anymore because it makes Liviana so happy. I hope people who visit realize that we don't isolate Liviana in the playroom. We bring her out with us all the time and within a minute of being away from her comfort zone she is asking to go back to the playroom (sometimes screeching to go back to the playroom). We want nothing more than for Livi to be right beside us like she used to be all the time but we have to acknowledge that things are what they used to be and she finds happiness in that room, in her chair, watching Calliou. We still get her up all day long, get her feet and legs moving and play with her but she wears down quickly and we hear that sweet voice say, "I want to go to playroom". We tried making her spaces in the office or living room where we are all the time but they didn't work for her...she still wanted the playroom. Sometimes she seems so mentally sharp and other times I am reminded painfully of her decline. One day she was sitting on the floor of the living room with me and suddenly started crying and saying, "I want to go home". I said, "Livi, we are home"..."We are hooome?", she said, "yes sweetie". "Is Daddy home?", "yes, Daddy is home". Little things like that happen on a daily basis. It is kind of like she is a mini alzheimer's patient if that helps put it in perspective.
The past couple of days she has given us great gifts of laughter and smiles. Apparently, Brad doing the running man for her is HILARIOUS (you should ask to see it) and of course, she asked me to do it as well...she liked Brad's version better. I truly thrive on those moments where she is laughing and smiling. Those moments keep me going.
Now, onto the G-man, Gio, Little G :). Giovanni is still pre-symptomatic, which means he has the chance to receive treatment that can slow or possibly even halt the progression of the disease in him. The options in the US are Bone Marrow Transplant or Stem Cell Transplant. Both have poor outcomes for Late-Infantile onset, which is what both Giovanni and Liviana carry. The process carries numerous risks, extensive chemotherapy, possible rejection issues since donor cells and bone marrow are used and extensive (possibly years) or immuno-suppression drugs. I have researched and asked questions and along the way have not felt comfortable at all with the options for Giovanni. It is a tremendous decision for any parent to make...I would not wish it on anyone. It doesn't seem right for Giovanni though.
An attempt at some "organized" photos after bath time ended in a few shots off and a naked tushy flying past me to play.
In Italy they are in the beginning stages of Clinical Trials of Gene Therapy for MLD. On a VERY basic level they use Giovanni's own cells, correct the ARSA gene deficiency and insert the cell back. There is very minimal chemo since it is his own cells and there is no rejection issues or immuno-suppressive treatments. This is what we feel comfortable with and this is what we feel is the best option for Giovanni. Our doctor here, Dr. Rizzo, has been wonderful and contacted the doctors in Italy before we even met with him and received Giovanni's diagnosis. He has taken all of the steps with them to determine that Giovanni did qualify and could be entered into the trial. Giovanni's gene sequencing had not been done yet because they were awaiting insurance approval so the doctors in Milan said to send it to them and they would run the sequencing. We are taking Giovanni and Liviana to the hospital tomorrow morning for blood draws that is then being sent straight to Milan. I will save my commentary on, "US citizen awaiting insurance approval has to send blood to another country for testing".
I expect to begin discussions with the doctors in Milan on Monday since this all fell on a holiday weekend on Friday. To say we are anxious is a massive understatement. I am hesitant to put all of my hope for Giovanni on this treatment but I would travel to any end of the earth for my kids lives....hope is all I have right now.
Giovanni is a very robust child. I think Dr. R. was surprised how strong, healthy and big he was. I swear he has the throwing arm of a 2 year old and he plays hard almost all day long.
It is immensely difficult to be able to get treatment for one child but not another. We will travel as a family for Giovanni and make sure that every moment of the life Liviana has left is filled with smiles, laughter and love. I can stay positive if I think of the gift Liviana is giving Giovanni through all of this, a chance to live, and the gift he is giving her through all of this, a chance to see beautiful parts of our world before losing her sight. It is very important to me that Liviana will have the medical care she needs while we are there including PT and OT so those will be discussions during this week also.
Giovanni is way ready for a nap. I had more to say but I will save it for this week since I know there will be much to update. This has not been proof read so I apologize for any confusion.
Hug your Babies!
Check up DAY!
3 weeks ago