Fear Not

I’m trying

•May 15, 2023 • 3 Comments

I cry often, but I’m trying

I feel joy and pain together, but I’m trying

I fight the internal battle on a daily basis, telling me I’m not enough, be more grateful and remember this could all be different if we didn’t get gene therapy, but I’m trying

My thoughts invade my head “ Why don’t they have friends, why isn’t there anyone who wants to spend time with them? How could this be Gods plan to save them but essentially they are alone? Is it me? Do I not do enough to help them befriend people? How can I continue to be their everything as they get older? They need more than their family, but no matter how hard I try, I can’t make it happen.

I go to therapy, I quit drinking, I pray and take medicine, yet somehow nothing can reach the depths of the pain of watching them try to fit in with their peers… only to be met with crickets. It’s a pain you could never understand until you do, but I’m trying.

Will I ever be able to feel “not guilty” for my sorrow? Others have it way worse I tell myself. I am truly in a battle with myself every day. I don’t know if I was made for this much sorrow. I am sensitive, empathetic and compassionate, but none of these traits are going to help me push these thoughts out of my head.

Will it ever end? No! The light at the end of the tunnel is a train coming right at us, because if I am being honest, we aren’t going to wake up one day and things will be “better” Nothing is going to change, I am going to feel sorrow, and then guilt and sorrow again… because it’s hard. God knows I’m trying.

I have had many prayers answered and I know how lucky I am, but the ones that aren’t… the ones that I think are “simple” prayers, I will never understand why he leaves them unanswered. Is it me? Am I not praying enough? What did I do wrong? My kids lives are hard enough, a simple prayer for a friend .. Why doesn’t God want that for them?

The 8th grade dance is this week and maybe that’s why my mind is going on overtime. No one to go with, no yes answers to the questions of “can we go together?” There will be no group picture at someone’s house with other peers. I’m sick to my stomach because this isn’t the way it’s supposed to be. Ella told me she will go alone and meet people there. God bless her! She is nothing like me. Who will she meet there? I can’t even think about it without getting nervous, but it’s her journey and not mine. She is braver then I ever was and am, but I’ll keep trying.

For those that pray, pray for my heart to not be angry at the world, pray for Ella and Eli, that God might bring a friend into their life that wants to experience all the goodness they have to offer. Please pray for me to not give up in believing that this is all a part of some plan and that I keep trying, no matter what is in our future.

Depression is real… but I’m trying!

Posted in Diagnosed, Life after diagnosis, living, My journey, the ride of my life
Tags: acceptance, anxiety, challenge, changes, day by day, depression, eli and ella, Eli and Ellas Prayer Warriors, family, Fear, fitting in, gene therapy, God, gratitude, Hero, hope, journey, joy, learning, lessons, life, Love, memories, metachromatic leukodystrophy, MLD, never give up, normalcy, praying, rare disease, sadness, sorrow, special needs, strength, thankful, warriors

Changing the world one clinical trial at a time

•May 1, 2023 • 1 Comment

We are so grateful for the people from start to finish who worked so hard for this particular clinical trial, the people that may never know the impact their work has, aside from seeing the results on a spreadsheet. This is why we were so moved when we had the opportunity to meet the incredible people at AGC Biologics and they could see the results of their hard work face to face! I will never, ever forget such an emotional day!! All these people changing the world in one room, changing the course of someone’s life who probably isn’t even born yet, so no family has to hear “I’m sorry, there is no cure” ever again for MLD! How incredible to be a part of that!!

Per The World Health Organization – A clinical trial is a type of research that studies new tests and treatments and evaluates their effects on human health outcomes

When we found out about the clinical trial for MLD over 10 years ago, we didn’t know much. Thanks to an MLD mom that I was friends with on Facebook, she introduced me to another MLD mom who was in the trial in Italy. She was very informative and explained what gene therapy for MLD was like for her child, and how he was doing in that moment. It was nothing short of amazing which helped us push even more for inclusion into the trial. At the time, there were less than 10 children in the world treated with gene therapy for MLD.

After doing our research, I remember we told our doctors what we were thinking about doing and how the clinical trial was going to be our only option that we would fight for. The doctors were surprised and some not in a good way. We did this research on our own with help from a few friends who were in the pharmaceutical field. We never had a doctor at any local hospitals mention any clinical trials for MLD. I’m not sure if they didn’t know about any, or if they didn’t believe in it, but Im guessing it could be either or both. We only knew one thing, and that was that if we did not get accepted, we would give Eli and Ella the best life possible in the time that we had with them.

Unless a trial has been around a long time, you don’t know much about it and isn’t that the point of a trial, to learn if a treatment works or not?

It was over six months of doing everything we could to be accepted, which was a lot of time and that time was filled never ending prayers. We still didn’t know everything, but we believed this was the way to go. We did do our research though, and learned about the process, the risks and benefits. They all outweighed the thought of losing them so we agreed and we never looked back.

We were told that we would be followed for a long period, which ended up being 10 years since we first went to Italy. During those years, Eli and Ella received wonderful follow up. Many tests to monitor how and if the disease was progressing. It was quite a challenge at times, but in the back of our head we always believed that we/they were making a difference for the future of MLD treatments. If this trial worked and prolonged their life, then surely we could help others from suffering the ultimate fate of losing their child/children. Eli and Ella would be two of the kids to change the world, and if we continued to go to our follow ups, they could learn how the treatment has truly affected them.

We had to continue to be followed; going to Italy and sometimes getting tests done here at our local hospital, but in our eyes, this was a small price to pay for saving the life of two of our four children.

I don’t like to think back to those early days as they were hard. Living in another country, not speaking the language, being away from your support system. None of it was easy, but as I said this past week, it was all worth it. I recently read that between 20 and 30 percent of people enrolled in clinical trials drop out! I’m glad we stuck through it and we hope they gathered some good information on the disease process from Eli and Ella.

Our particular trial was different than most because of having to be in a foreign country. It takes a toll on many things, relationships, the kids in the trial, the ones at home and it changes you… how could it not? The alternative is worse and we will focus on that ALWAYS.

I have always said and always will, that when you or someone you love is diagnosed with a disease that they don’t know much about, don’t give up! Research, research and research some more. You never know what is out there and who you will meet, just like us. I would have never imagined that a story like ours, that started with us hearing that two of our kids were not going to make it, would be changed by social media, a fight like no other, and a clinical trial more than 4000 miles away in another country.

The people who are crazy enough to think they can change the world, are the ones who do – Steve Jobs

Posted in Along the way, Back to life and living, Diagnosed, Life after diagnosis, living, Milan, My journey, the ride of my life
Tags: acceptance, anxiety, challenge, changes, clinical trial, day by day, eli and ella, family, gene therapy, God, gratitude, Hero, hope, hospital, Italy, journey, joy, learning, life, life changing, Love, memories, metachromatic leukodystrophy, Milan, Miracle, MLD, never give up, normalcy, rare disease, research, special needs, strength, treatment, warriors

The journey of many miles, tears and smiles – Thank you Milan

•April 28, 2023 • 1 Comment

This is hard to write, because it’s hard to believe that when we wake up in a few short hours that our journey in Milan is coming to an end. A journey that has spanned thousands of miles of traveling and a decade of living as a parent of two children with MLD.

When Eli and Ella were first diagnosed with MLD, we were not given much hope, really none. We were told that they might live to see their teen years, and if we were lucky, maybe 20. That is what is typical with juvenile MLD, because it slowly robs you of the ability to walk, talk, eat and so on, until the body simply can’t fight anymore.

That is NOT how our story unfolded over the last ten years thankfully, and we owe that course change to gene therapy and the clinical trial here in Italy.

Today we said our goodbyes here in Italy, we had our discharge meeting and we prepared for our flight home in the morning. We shed some tears and we thanked those that we could, but the list is long and the words seem to be insufficient.

We started our day with breakfast, followed by a quick visit from our friend Rose who we have known since the beginning. She was there at the beginning when we felt isolated and alone. She took us to the grocery store, the mall and helped us with anything else that we needed. She was a true angel and we will never forget the feelings of ease that she brought to us during the early visits in Milan.

A visit to Milan would not be the same without going the cathedral in Duomo, so today was the day before we met the doctors for our discharge.

It gets me every single time that I lay my eyes on this church and today was no different.

We did not go in the church today but we made sure we said our prayers of thanks for the last ten years and all the blessings in our life.

We had our last lunch overlooking the cathedral and it didn’t disappoint!

Off to the hospital we went after some shopping and taking it all in.

We had our discharge meeting with the doctors and it went well. We learned that Eli should get his gallbladder out, and he will be getting a mole removed as well. We will follow up with our doctors at CHOP to make some more follow up appointments to keep an eye on a couple of things.

We don’t have the levels of ARSA (the missing enzyme that causes MLD) back yet, as that is ongoing but we should in a couple of months. Aside from that, it seems as though the MRI is stable as is the nerve conduction, which are the two biggest things that we are always eager to see the results of.

It was emotional saying goodbye but not as bad as I thought. We are ready to go home but also so grateful for the opportunity to be here.

We went back to the residence to finish packing and then had some American dinner with out wonderful friends Erica and her family.

I hope we can see them all again in America one summer! The girls had a wonderful time together and the laughter was plentiful with all of them. It was a true joy to have this time together and we will cherish the memories!

From start to finish, we thank you Milan for the gift of life!!

Posted in Along the way, Back to life and living, Diagnosed, Life after diagnosis, living, Milan, the ride of my life
Tags: acceptance, challenge, clinical trial, day by day, eli and ella, Enjoythemoment, family, Fear, gene therapy, God, goodbye Italy, grateful, gratitude, Hero, hope, hospital, Italy, journey, joy, life, Love, memories, metachromatic leukodystrophy, Milan, Milano due, miracles, MLD, never give up, normalcy, rare disease, sadness, sorrow, special needs, strength, thankful, warriors

Pushing through- Our last day of testing in Milan

•April 27, 2023 • Leave a Comment

Wednesday we woke just in time to arrive to the hospital by 8:40 and started our long last day here.

It’s hard, and emotional to think that we have completed our part in this incredible opportunity of a clinical trial.

I have so many picture like this from over the years 💙💗

The day started with spirometer testing, which we have never had before. I’m so glad to have had this testing because when Eli gets sick sometimes we notice that it seems he can’t express things very well from his chest. It’s good to have a base to know where we go from here.

We got to see Sam who we have known since the beginning, and although we both don’t know how to speak the others language well, love and kindness is universal and Sam has always shown us that for years.

Off to some more neurological evaluations in which the kids seemed to do really well with. Although I personally have questioned Eli’s surgery at times, Marina showed us a video of Eli walking at CHOP taken before his surgery and it reminded us just how poorly he was walking. No one was even sure HOW he did what he did at that point.

Eli had his Visual Evoked Potential next, which he is not a fan of.

Many times during the weeks we had to just keep telling them that this was the last time and to push through. Sometimes their moods would not be great and the anger would show, but knowing we were almost finished seemed to make them be able to push through a bit easier.

We went down to the pizzeria for our last pizza from under the hospital and it had to be quick before we went back up for Ella’s VEP.

One good thing about having Eli and Ella both here is one of them can always see what the other is going through first, which thankfully made this king test go much easier for Ella.

We also got to say goodbye and thank you to Evan who is the gentleman who has done the kids nerve conduction testing over the last ten years.

We went back to the third floor, for more blood work and to wait to see the physio again.

We had some time after this before we visited with Dr. Aiuti so we decided to sit outside and enjoy the beautiful day.

Around 4:30 we went back in to see Dr. Aiuti who is the clinical research director here at San Raffaele. We are grateful to have had some time with him to discuss the kids and say thank you for the opportunity to be here. He has also been with the kids since the beginning with Dr. Biffi, when she was here.

On the way out we were reminded just how lucky we are and also how far gene therapy has come since we started here. There is a wall of pictures of children that have had their lives changes with gene therapy here at the hospital. It’s always a joy to see this wall and I have shared this numerous times before. Yesterday it took on an even more emotional meaning as we have reached the end of our journey here. Seeing so many children who have been given another opportunity at life is simply indescribable.

We went back to the residence, did some laundry and had our last dinner at the hotel here.

I’m sure there will be some tears today as we say our goodbyes, but they will be happy and grateful tears. Soon we will be with Eric and Evan again and there will be more happy tears.

Posted in Along the way, Back to life and living, Diagnosed, Life after diagnosis, living, Milan, the ride of my life
Tags: acceptance, anxiety, challenge, clinical trial, day by day, eli and ella, Eli and Ellas Prayer Warriors, Enjoythemoment, family, gene therapy, God, gratitude, happiness, Hero, journey, joy, learning, lessons, life, Love, memories, metachromatic leukodystrophy, Milan, MLD, never give up, normalcy, rare disease, San Raffaele Ospedale, sorrow, special needs, strength, thankful, warriors

When strangers become friends- 8 years ago in Milan

•April 27, 2023 • 1 Comment

Last night we were grateful to have dinner with some wonderful friends that we have known for 8 years now, who live right here in Segrate. We met them in the most unusual way and we are so grateful that we did.

It will be 8 years this summer that we were here for a checkup for the kids, and this one particular day it was the MRI and lumbar puncture, so we were pushing the kids back to our residence in two strollers as they were wobbly from anesthesia.

We went into the grocery store on the way home to gather some things, and before we knew it, Ella had gotten up out of her stroller and was gone. The store is small so we thought we would find her around another aisle but after looking everywhere we realized she was not there. As we split up looking in closets and the back of the store, the frantic feelings set in. We could not speak the language well and in that moment I forget how to say daughter in Italian to say she was missing. Within ten minutes a crowd gathered and shortly after the police. Time was ticking and with the fear growing, I noticed a woman who could speak English. She came right over and started asking what was happening and relaying it to the police. When the officer asked us for pictures we did not have a phone on us, so Hut went to run back to our room at the residence. This wonderful woman stayed with me and helped as much as she could for the next fifteen minutes as we waited for Hut to get back. With Ella nowhere in sight it was getting scarier by the moment, until we saw him coming over the bridge with Ella by his side.

Ella had left us and somehow she managed to go more than a half a mile to our residence, up the elevator as it stopped at the second floor she continued to the fourth floor and walked to the end of three hallways to our room and waited for one of us at the door. To this day, we are not sure how she made it back alone except the believe she had someone watching over her.

My now friend Federica stayed with us and helped us in these moments where we did not know what would come next. Later that evening we went to dinner at the local restaurant and I remember her and her husband were there. She sent over a drink for us and we chatted a bit about the day. This started our friendship that would span the years that we have been here in Milan.

Every visit to Milan, Federica, her husband Francesco and their three daughters would have us for dinner at their home or we would meet at the local China Town for lovely company.

Last night we had one last amazingly cooked Italian supper together at their home and it was so wonderful being with them again.

I would never be able to express just how grateful we were for her that day, and how much we have appreciated their friendship over the years.

Strangers suddenly becoming friends! This is not the first time this has happened during our journey in Milan but it surely is one that we will never forget!

Many thanks to this beautiful family that will forever remain in our heart!

Posted in Along the way, Back to life and living, Diagnosed, Life after diagnosis, living, Milan, the ride of my life
Tags: acceptance, anxiety, challenge, clinical trial, day by day, eli and ella, Eli and Ellas Prayer Warriors, Enjoythemoment, family, Fear, friends, gene therapy, God, gratitude, gray itude, happiness, Hero, hope, journey, joy, learning, lessons, life, Love, memories, metachromatic leukodystrophy, Milan, MLD, never give up, normalcy, rare disease, sadness, sorrow, special needs, strangers, strength, thankful, warriors

Easy peasy – Day 6 in Milan

•April 21, 2023 • 1 Comment

Not much happened today at the hospital which was great after yesterday. We did have to arrive by 8:30 but the testing was not bad.

We started the day with the echo scans of the abdomen, thyroid, liver, ovaries and such. The kids didn’t mind it too much and we were only there till about 10.

We walked back to our residence in time for a sit down breakfast which they both enjoyed. Bacon sandwiches and fresh pineapple juice for the win! donuts too but they didn’t quite taste like our donuts at home:)

We were able to go home and rest, before heading back to the hospital at 2. Our 2pm appointment was to see the endocrinologist and lasted about two hours.

We escaped by 4 and did a little window shopping on the way back. We also stopped by the fountain and enjoyed the no rain today!

We had dinner plans at 8, so some took a nap and then we got ready to see our special friends for dinner!

I can’t talk about the last ten years without thinking about all the people that we got to know and love over the years. When Eli and Ella were in the hospital we became friends with one of the nurses, who introduced us to her family. We would have dinner with them and they would visit whenever we came to Italy. They are a very special family and we have many memories filled with time spent with them.

Tonight we planned dinner and they came to us to eat at China Town. (Eli’s favorite pizza place) We ate and laughed, while reminiscing over all the moments we have had together and when it was time to go we took some pictures to add to our memories.

They brought a gift for Eli and Ella, Eli a special hat and Ella, her first Pandora necklace so she will always remember them when she wears it. It was the perfect night. The Buzzi family will always be a part of our family, now and forever. Federica, Francesca, Mamma and Pappa Buzzi we love you all!!

After a memorable dinner we came back and finished packing, because we are headed on a trip tomorrow. There is a holiday on Monday and The part of the hospital that we go to, does not have work Monday and Tuesday, so we will be going away for a couple of days during this break.

Thanks to my friend Erica, we have carry-on’s that she let us borrow, so we don’t have to check a bag.

Positano here we come!!!

See you soon Milan!!!

Posted in Along the way, Back to life and living, Diagnosed, Diagnosis, Life after diagnosis, living, Milan, My journey
Tags: acceptance, changes, China town, clinical trial, day by day, dinner, eli and ella, Eli and Ellas Prayer Warriors, Enjoythemoment, family, gene therapy, God, gratitude, hospital, journey, joy, life, Love, memories, metachromatic leukodystrophy, Milan, MLD, never give up, pizza, positano, sorrow, special needs, strength, vacation, warriors, window shopping

The priceless gift of gene therapy – Day 4 in Milan

•April 20, 2023 • 3 Comments

We woke to another gorgeous day here in Italy and somehow the sunshine seems to make everything better.

One thing we have always known, is Eli does NOT like the EEG! Thankfully he was tired so it made it easier to keep his eyes closed. I think the time change is hitting him as it was 2 am before he fell asleep. All of the sudden the memories come rushing back … the sleepless nights filled with laughter and snuggling, and the same question asked a million times “What time is it at home?” Some things never change no matter how old they are.

Since today was Eli’s day to spend at the hospital, Ella was home with Hut. I thought for sure she would make him shop now that she is older and much more interested in those types of things. I was right, they went shopping!

They went to City Life which is a new residential, commercial and business district in Milan. Of course they had a great time!

We went from the EEG to the psychologist for a two hour evaluation. It definitely takes a toll on him mentally but he pushed through like a trooper.

We quickly went to the cardiologist after that and it was something I was eager for. Eli has had some edema in his legs the last year, so we are hoping it is just from not moving as much as he used to.

We had about a half hour to eat before his next appointment, sooo off to get, you guessed it, pizza!!

Our last visit for the day was to the dermatologist. I noticed a mole that seemed to change over the last year on the back of his leg, so of course they set up an appointment to get it checked out. It was amazing to see how they check your moles here because it is so different than I have seen at any dermatologist back home. They put a bit of gel on each spot they were checking and used a gun type magnifier pressed up against it, which then projected it to a large computer screen so the dr could get a good look. All of them seemed good and then he checked the one I was concerned about. He took his time, explaining some differences in this one, and would like to do more tests tomorrow to see if we should get a biopsy or not. I pray it is nothing, but I am grateful to have it checked out. There is a bit of a blue hue to it, which could be normal or the start of something not so good. The technology is amazing to say the least!

I don’t know how to describe the rest of our day because there are simply no words.

Two days ago I got a message from a connection on LinkedIn who works at AGC Biologics. He saw that we were in Milan and invited us to come to their location to see where all the magic of gene therapy for MLD (along with other diseases as well) happens! We were beyond honored and excited to have this opportunity!

I lay here tonight still unable to express what it meant to see where Eli and Ella’s cells were taken to be genetically fixed. We were given the tour of all tours and learned the gene therapy process from start to finish. The most incredible part was meeting two people who were actually the ones that handled Eli and Ella’s cells ten years ago, genetically changing them, giving them the opportunity of a second chance at life.

You couldn’t possibly understand, just as I can’t possibly express what this opportunity meant to us. They don’t get to see the results of their work, but today they did, and I don’t think there was a dry eye in the room.

Words can’t possibly do this experience justice tonight, so I will sleep on it, wait for the pictures that were taken today and thank God for these amazing and dedicated individuals who have given us this priceless gift of more time with Eli and Ella.

Posted in Back to life and living, Diagnosed, Diagnosis, Life after diagnosis, living, Milan
Tags: AGC biologics, clinical trial, day by day, eli and ella, Eli and Ellas Prayer Warriors, Eliandellasprayerwarriors, Enjoythemoment, family, gene therapy, gift, God, gratitude, happiness, healing, Hero, hope, Italy, journey, joy, learning, lessons, life, live, memories, metachromatic leukodystrophy, Milan, MLD, never give up, normalcy, purpose, rare disease, rgrowth, special needs, strength, thankful, warriors

No matter how many times we do it, it never gets easier – Day 5 in Milan

•April 20, 2023 • 1 Comment

A dreary day here in Milan but thankfully we got a ride to the hospital because we had to arrive by 7:30. We knew it would be the longest day of the trip, and that’s what it was. Long and hard.

Today was MRI day, not only that, but lumbar puncture, bone marrow aspiration and EMG. Thankfully all of this took place while sedated, but that is the worst part… for Ella anyway.

The tears started shortly after arriving and getting situated in our room at the day hospital. Thankfully some of the people we are familiar with which always makes it nicer.

Ella was first and got her IV placed for sedation. I don’t think it it so much physical pain but more emotional distress that disturbs her the most. We couldn’t understand what they remember or what really bothers them about the last ten years but I’m sure it goes deeper than we know.

It was a rather quick process this morning which we were so thankful for and shortly after taking blood, we went to the room that she so dreads. Lots of people and a room that looks just like an OR. In Ella’s words it’s “too many people” and that scares her. No matter how many times we do this, it seems to be the same outcome every time for Eli and Ella. Ella sat on the table to get ready for anesthesia and the tears started again. When she cries, it’s so hard not to cry with her, so I just cradle her with my tears falling on her. As her mom I hate this, but it’s so important to get the big picture of how MLD is affecting their whole body.

Thankfully she was out cold very quickly and I darted out to get some fresh air before heading back up with Eli and Hut. I only stayed to drop coffee Americana because Eli was doing just fine. Hut sent me a pic not long after, that his IV was placed with no issues and he would be heading down as well.

The MRI is about an hour but before that is when the procedures take place, so when Ella was off into the MRI, Eli was getting ready to be sedated.

Hut and I sat in the waiting room chatting with Miriam and waited for Ella. Just as I was wondering when she would be done, the doctor came out and she she was finished AND happy!!

For years, she used to wake from anesthesia angry, but today she was happy and wide awake. We went back upstairs and got her settled before I headed back down to wait for Eli. She had to lay there for a couple of hours flat due to the lumbar puncture which worked out great as Eli was now in the MRI.

His seemed to go quickly and when he was finished, I went back to see him. It’s so ironic how opposite they are, because as easy as Eli is going in, he takes so much longer and is grumpy afterward. Today was no exception.

When he was alert enough, we went up to his room which was next to Ella’s. By now she was having water and eager to eat. It took Eli some time to fully come back to himself and when he did, he was not too happy. We thankfully know how they typically respond to anesthesia so he had some water pretty quickly and some food not long after. He was not thrilled with having to lay on his back and the screaming baby a few doors down. By now, Ella was eating and eager to go “home” and then we found out we had to get a dexascan today before we left. You can imagine, they were not happy.

At 2:30 we pushed them down to where they do the scan and thankfully, it only took about 10 minutes each.

I feel that we did too much moving because Eli started complaining about his back and hip. After arriving back at the room, we waited about another hour until they took out their IV, then we headed back to the residence.

They are both in bed resting and actually Ella is asleep, so we are hoping this doesn’t completely mess up the night, but she needs to rest her body. Eli is still in pain in “his spine” as he says so we pray it eases up by tomorrow.

All in all, they are good, and we have to remain focused on the fact that being here is a blessing and a gift that many do not receive.

Posted in Along the way, Back to life and living, Diagnosed, Diagnosis, Life after diagnosis, living, Milan
Tags: anxiety, challenge, changes, clinical trial, day by day, eli and ella, Eli and Ellas Prayer Warriors, Enjoythemoment, family, Fear, gene therapy, grateful, gratitude, happiness, Hero, hope, journey, joy, learning, lessons, life, Love, memories, metachromatic leukodystrophy, Milan, MLD, MRI, never give up, purpose, rare disease, sorrow, special needs, strength, warriors

A good day – Day 3 in Milan

•April 18, 2023 • 4 Comments

Ella and I started the day at 8:30 at the hospital. An EEG was the first test on the schedule for today. A test that she despises and from what I remember after talking with other kids who have to get them, she is not alone. I’m not sure if it is everything they put in her hair or just the idea of not being able to move much. Thankfully she did an amazing job today with everything and I am so proud of her.

After the EEG she went to meet with the psychologist for a two hour neuro-psych examination. Thankfully she has known Dr. Francesca for years now, so it was not anything she was nervous about. She did a great job and then it was time for a break to eat.

Ella chose pizza again 🤣

After lunch we went to see the dermatologist, followed by the cardiologist. Everything could not have gone any better today and we are glad to have another day in the books.

While we were at the hospital, Eli had the day off, so Hut took him to breakfast and lunch where he had his first chocolate croissant and yes, another pizza for lunch. He actually ate the whole pie!!

Tonight we had a wonderful dinner at the Chinese pizza restaurant by our residence with some amazing friends that have welcomed us in Italy with open arms from day one, ten years ago. The gratitude I felt tonight looking at these kids filled my heart so fully that there are not enough words to describe. The pictures tell a beautiful story of friendship that has made many days brighter here in Italy.

Today when I took a walk to get some alone time, I saw so many turtles in the same place sunning themselves and of course the fish that we have enjoyed feeding over the years. I did get yelled at in Italian to stop feeding them though. I think they are getting too big 🤣maybe that’s why.

I received an email today while at the hospital, and we were invited someplace very special tomorrow which I will share tomorrow, but it will be very meaningful to us.

All in all, it was a great day and no real complaining except from Eli who is ready to be home in his own bed ASAP.

They are finally falling asleep as I finish writing and as they were, Eli asked if we could pray. It was simple prayer of thanks for Chinese pizza and a beautiful day. I love his heart so much and I hope to continue to appreciate the simple things, just like Eli!

Posted in Back to life and living, Diagnosed, Life after diagnosis, living, Milan, the ride of my life
Tags: appreciation, changes, clinical trial, day by day, eli and ella, Eliandellasprayerwarriors, family, friends, gene therapy, gift, God, gratitude, growth, happiness, healing, Hero, hope, hospital life, journey, learning, lessons, life, live, memories, metachromatic leukodystrophy, Milan, miracles, MLD, Mother Nature, never give up, past, purpose, rare disease, special needs, spring-ford, strength, struggle, thankful, warriors

For a moment, not much else seemed to matter – Day 2 in Milan

•April 17, 2023 • 4 Comments

Yesterday I wrote about a family that we met years ago who had two kids with MLD. One was a part of the trial, and the other, Omar, was too progressed for treatment. I shared that we are staying in their room where they used to stay, and how special their only son Omar was to me! Today when we were in the hospital, I brought up the family only to learn that he passed away from MLD not even a month ago. My heart was crushed for his mom, dad and three sisters. Suddenly as I looked at Eli and Ella, nothing else seemed to matter at that moment except the fact that they were here, alive and happy. Omar will be missed and I will never forget his smiling face, his laughter and the joy he brought to many.

His three beautiful sisters who we blessed to spend time with

The kids slept surprisingly well last night, and we actually made it to hospital on time today. 8:30 may not seem early, but trust me it is, especially when we walked there, and even had breakfast before we left.

We arrived to some wonderfully familiar faces and went into the waiting room where we met Dr. Biffi and her team more than ten years ago.

We started the day with an EKG for both, along with a blood draw.

From there, we went right into the motor skills evaluation, which they both did really well with, despite it being our first morning at the hospital.

We had a quick break, so we went to one of the familiar pizza places below the hospital. Some of our friends who have worked there for years were still there, and one of them, Carlo, came right up to us to say Ciao to the kids. It’s amazing how many people we have come to know over the years and we feel so grateful for those familiar faces.

Back for one more test after lunch, and it was a simple X-Ray of their hand to check their bone age. As simple as this was, it threw Ella into a bit of a panic and she was ready to go home. She was upset and crying as they shut the door, but the women were great and after talking for a minute she realized it’s not really the X-Ray, but everything else that was upsetting her. Thankfully after this, our day was complete and we were headed back home.

Time for gelato!!

We ate gelato, finished our walk home, and got ready for dinner. We are trying to see some old friends while we are here, so we headed to Hotel Rafael for dinner and got to see our friend Vicky as she works there. She was our waitress tonight, which gave us plenty of time to catch up! It is just beyond beautiful when I think of all the wonderful people that we have met, who have helped us in some way, shape, or form along this journey.

We had a delicious dinner, reminisced about the years and moments spent here, gave lots of hugs and walked back home, not before stopping at the beautiful fountain that is outside of the hospital for a quick pic! The perfect way to end a great first day for these heroes of ours!!

As hard as this trip can be, with so many emotions being dredged up, I can’t help to be reminded that this too shall pass.

Unfortunately, for those like Omar, that weren’t so blessed to get Gene therapy or another life prolonging treatment, MLD continues to rob them of everything that their parents hold close, until their body can’t fight anymore. So, tonight I choose to go to bed thankful for the laughter at dinner, the tik tok filters of Huts face that made Ella laugh till she cried, and the conversation happening in the other room between Eli and Hannah. This may be hard for us, but the alternative is much harder. I Never thought I would reach this level of acceptance all those years ago, but I am slowly getting there. Learning to love and accept not only the skin that I am in, but loving and accepting the body that Eli and Ella are in as well.

“ The luckiest of the unlucky”, I have said it for years, but on days like today, it hits home even harder and I thank God for being my anchor through it all.

Posted in Along the way, Diagnosed, Diagnosis, Life after diagnosis, living, Milan, the ride of my life
Tags: acceptance, changes, clinical trial, day by day, eli and ella, Eli and Ellas Prayer Warriors, Eliandellasprayerwarriors, Enjoythemoment, family, Fear, gene therapy, God, gratitude, hope, journey, joy, learning, life, Love, luckiest of the unlucky, memories, metachromatic leukodystrophy, Milan, miracles, MLD, never give up, rare disease, San Raffaele, sorrow, special needs, strength, warriors