Italy Bound

The arrangements have gone so fast in the last two days for our trip to Italy. I wanted it all to go quickly because each day that goes by I get more and more anxious that Giovanni is closer to onset and he must be pre-symptomatic for treatment. Goodness it feels like such a whirlwind. We are leaving for Italy on January 11th because they want to begin Giovanni's treatment process on January 18th...Liviana's 3rd birthday. Giovanni will be 1 on January 16th.

This is a copy and paste from Dr. Biffi's e-mail of what Giovanni's treatment will entail: Giovanni will first undergo collection of a small volume of bone marrow (upon puncture of the iliac crest) for safety reasons (it will be stored in case of future need) and positioning of a central catheter. This will require a 3 days stay in the hospital. Thereafter, Giovanni will undergo a disease staging and general health status evaluation that will consist in a number of laboratory and instrumental test to be performed in the following month as outpatient services. Then, approximately one month after the first bone marrow collection, we will begin the treatment. This will require a stay of approximately 6 weeks in the hospital. Thereafter, we will monitor him 2-3 times/week in the outpatient service until we will fill safe to send you all back to the states. Importantly, if we enroll and treat Giovanni, you will be asked to come back to Milano every 3 and then 6 months for clinical evaluations.

I have such an opposing mix of emotions as I read over and plan mentally for Giovanni's treatment. First, I am so hopeful that this will be what he needs to halt this horrible disease in his body. Then, my mind kicks into mama bear mode and I cannot imagine putting my "healthy" child through such an experience. We are supposed to protect our children yet I am going to hand him over for something so painful and difficult for something that isn't even happening to him yet. The other side of me of course knows that the alternative is waiting a year and beginning to see the same rapid decline in him that we have seen in Liviana with the same awful fate much to soon in the future. I also truggle with treatment for one child that the other cannot receive. I know however, if Liviana could make the decision that Giovanni get treatment even though she can't she would not hesitate to say, "Go for it". She ADORES her baby brother. Her face lights up when she says, "G-monny".

We didn't have passports yet so the only way to get them quick enough and guarantee we would have them in time is to go in person to get them. A wonderful client, named Lindsay Murray works at Senator Johanns office and contacted me offering help from their office and she put me in contact with Whitney. What wonderful clients I have! We will be leaving, as a group (I lovingly think of us as the Griswolds) for Minneapolis late tomorrow for an 8:30 am Thursday appointment for our passports. We just can't do anything easy around here.

I haven't been able to sleep much since New Years Eve when Dr. Rizzo told me that Giovanni was accepted into the Italy trials. I sleep at night between Liviana and Giovanni. I have been laying awake staring at the ceiling listening to them breath. I know as parents we all find ourselves listening to that slow, rhythmic breath and loving every minute of peace on their sweet angelic faces. That breath has new meaning to me these days. I beg for those breaths to continue, to not ever weaken, to not ever stop. I look at their sweet faces and cannot for one second imagine not being able to see them. It keeps me awake...it makes me cherish every second no matter how chaotic and stressful.

As Brad and I have navigated our way through all of this I have told him that we must look at it from this perspective...There are so many people out there who get that unexpected phone call that their child has been lost in a car accident or other tragic event. Their child is gone forever and they are left to relive those last moments as they left home that day whether it was a good exchange or bad exchange...that is the last sound of their voice. We have been given a gift, in a way, because we know ahead of time what is around the corner so we have the opportunity to cherish every darn second, live in the moment, cherish the moment and realize the importance of the moment so much more than most people ever have the chance. I insist on making a positive out of this horrible experience. I must. It does not serve anyone, particularly our kids, for me to succumb to my emotions and sit in the corner and cry (like I do in my mind). I may be rather scatter brained at times and I spend way to much time standing in the kitchen not knowing why I am in there these days but I am trying to do what I need to do as a mother...it is what we would ALL do as mothers.

Many more updates as we prepare to leave under the illusion of organiztion :).

Hug Your Babies!

Amy

Many Updates...Some Hope for Giovanni...Hopefully.

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!

Amy

An Update

This will be a quicky. I apologize for being slow at updating from the appointment yesterday. Liviana and Giovanni both have been confirmed, through sulfatides in the urine to have Metachromatic Leukodystrophy, Infantile onset. Giovanni is pre-symptomatic and is hopefully a candidate for either bone marrow transplant, umbilical stem cell transplant or gene therapy. We have a lot of thinking and agonizing to do over the holiday weekend before beginning his journey this week with Doctor appointments and an MRI. I guess this will become Liviana and Giovanni's journey. God bless my babies.

I am getting ready to make cookies with Aria and Miles for Santa :). Liviana is watching Calliou which is her new favorite past time. She is not like Livi anymore which is so indescribably heartbreaking. She is drooling a lot and I bought her a cute bib the other day...she must even have cute bibs :). Her temper is not her. She is agitated easily and the other day when we were going to take her shopping after her occupational therapy appointment she was so upset and screaming so much in the car that we had to go home. That is not our Liviana...those are the hard things to take.

Giovanni...he is a wild man. He is my sweet, crazy boy who is terrorizing the house and eating everything in sight as he can. Gosh...if you could meet these kids...all four of them! He has a curl starting in the back (which is pretty much the only spot with hair) so imagine that sweet face, his blue eyes and light, curly hair.

I have to run. I apologize for being brief. You will get sick of me soon with all my postings about all we have to overcome, face and deal with. I love you all for your support! I can't say that enough. He is taking steps here and there but not walking. He is speed demon at crawling so I figure he doesn't see the benefit just yet. I promise to get photos of them all up soon from the amazing Jen Pinkerton :).

Love to you all. I am living in the moment and I wish you all an amazing Christmas of hugs, love, smiles, health and peace. Hug your babies!

Amy

Results at 2:15 today

I called early this morning to find out if the results were in from Liviana and Giovanni's sulfatide tests. I got a call back as I made my way through Costco with Giovanni and Aria. The doctor wanted to see us in person today at 2:15. He didn't want to give the results over the phone. I have to assume this means that Giovanni tested positive for sulfatides which means he has MLD. Dear God in heaven my baby of all babies has this horrific disease too. I can't think of any other reason he would need to see us in person.

I will update tonight when I can and will update sooner on my Facebook than here. I just feel so numb and don't know what else to say right now.

Genetics {Minus} 101 and Giovanni

Remember when I said that they were 95% certain she had MLD? Well, we are now facing that 5% of not MLD. I am trying to find any humor I can these days and my humor for this evening is in what will be my attempt at a genetics crash course hence the {Minus} . My graduate education although vast did not cover much of genetics and certainly the world of pseudo-deficiencies, ARSA enzymes and alleles was never touched on. I will do my best.

First, I felt my knees get weak and I thought I was going to pass out when Dr. Rizzo told Brad and I on the phone today that Giovanni had the same ARSA (or ASA) enzyme deficiency that Liviana has. At the same time he was reassuring that this does not mean he will go down the same road she is. That unfortunately is little consolation to me right now. He also shared that Liviana does indeed have a pseudo-deficiency allele for the ARSA enzyme which means that there is a good chance...more than 85% chance that she does not have MLD. She has A leukodystrophy but likely not MLD. The confirmation will come from urine which will be overnighted tomorrow (assuming I can finally be successful collecting enough from her). It is rare to find MLD in people with one copy of the pseudo-deficiency allele all though it does happen.

So...what does this all mean? It means that she is still deteriorating, she is still losing the white matter on her brain and we do not know why yet. There are other genetic tests being performed, particularly for a mutation in a e1f2b gene which would mean Vanishing White Matter Disease which is another, more rare leukodystrophy. For Giovanni it means we don't know anything either and don't know if he will begin having the same symptoms or what would be causing them at this point because we don't know what Liviana has.

So...if you are pouring your glass of wine right now...I will join you. I really have to find humor folks because I am terrified beyond belief, upset, confused and grasping at anything and everything I can. I will take any answer at this point and I just have to hope and pray that Giovanni's future is not the same as what Liviana is facing. It tears me down to the core to see her sweet face. Dear God it can't be! Please, it can't be.

We will know next week if the kids have sulfatides in their urine and will have one more answer that unfortunately may just lead to more questions.

My crazy, hair brained theory at this point comes from an article I found while researching the pseudo-deficiency of the ARSA enzyme. (By the way....1 in 11 of you have a pseudo-deficiency allele for the ARSA enzyme.) Here is the article. Basically, a pseudo-deficiency of the ARSA gene exacerbates the neurotoxicity of lead exposure increasing the sulfatide production. I do not know if Liviana has lead exposure but 1) she hasn't been tested and 2) Omaha has high levels of lead exposure (google Omaha and lead poisoning...we are on a CDC "list"). Our last home had our neighbors home replaced by the EPA for lead levels and our current home is flagged by the EPA for exterior trim painting and they were out measuring levels in our yard again 2 weeks ago. I called Dr. Rizzo's office and he said that lead poisoning would present itself differently, like anemia, and dismissed the notion. She hasn't been tested for anemia either. As a crazed mother I must rule out the lead poisoning since we know she has the pseudo-deficiency allele which could mean she does not have MLD but something else causing the rapid white matter loss. I am taking her to the pediatrician tomorrow to be tested for lead levels.

I guess if you are praying....pray for lead levels off the charts as an explanation because that would be a million times better than what we were facing or could face with an unknown leukodystrophy. I feel crazy even asking for lead to be an issue and I am also frustrated with myself for giving a sliver of hope to myself since I am not a doctor and surely they would have considered the lead issue with the known combination of ARSA enzyme deficiency.

Blah...it sounds crazy to even type it all out. I guess I am still in the denial stage. I bounce back and forth.

Thank you to everyone supporting us through prayer, meals, kind words, donations, gifts and love. Thank you to Jen for the Wednesday post on The Maternal Lens. The world of moms and photographers is strong and supportive.

I am getting Livi and Giovanni in the bath now. More later. Hug your babies TIGHT!

Amy

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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.

Amy

*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