Etched in my memory

•June 2, 2023 • Leave a Comment

There are days you can instantly draw to the forefront of your mind, and you can remember every little detail about that day. It might be the outfit you were wearing, the weather, or maybe you can still hear the ringing of the phone. Then comes the event that changes you on a dime and suddenly you have a snapshot of everything that day… forever…It becomes etched in your mind and it becomes unforgettable!.

Ten years ago today, we were all in the house, the weather was crisp, as the sun was shining. We had only gotten their blood drawn a few days before to test the other three kids for MLD, so I was not expecting it to be CHOP when the phone rang. One of the boys answered and I saw the look of Eric’s face like “mom, it’s CHOP” I took the phone and I could tell she had me on speaker which I knew wasn’t good. She said all the testing was back and that Eric and Evan were carriers. At that moment timed slowed as I suddenly knew what was coming. She said she was sorry but Ella also had MLD. I remember hearing her continue to talk but I wasn’t interested, as my ears were full of ringing, like suddenly everything was going to go black or blank. I couldn’t think so I passed the phone off, and I walked out.

I didn’t know what I was going to do in those next few moments, everything was a blur. My heart seemed to explode with sadness at the thought of losing two of my kids.

Ella was four, so she didn’t understand, but when we did tell her later that day, she seemed excited that her and Eli both had it.

It makes me wonder if she somehow knew this was part of her plan, if she made a contract with God before coming to earth to fulfill her mission and be one of the ones to help this trial for MLD. I would like to believe that she knew this life would be a challenge, but the people she would touch and the lessons learned, by her, and through her would all be for growth, eventually working for good in the end.

Although I like to believe this, it’s hard not to be reminded daily how this disease has changed her. Her brain, her feet, her hips and her walking. Some days I feel that she has early dementia. The friendly reminders that turn into frustration, the showers that have to get re-done to fix what was missed. The list unfortunately goes on and on.

My daughter that I prayed for, that I dreamed of making things right with, being excited to teach her to drive and someday watch get married…MY DAUGHTER…although many of these things might not come to fruition, I am slowing learning to accept that, BUT will continue to pray and believe that the joy will still be there, just in different ways.

To be honest, my heart breaks every day and if you don’t know, then you could never possibly understand the feeling. I try and I try, I pray and I ask God every day to guide me. It’s hard to believe we have come so far, yet still feel the same in so many ways.

My daughter, I will love you through it all, the good and the bad, the scary and the unknown. I will thank God every day that although our journey might not be what I thought, I can promise you, that the days ahead, whether good or challenging, will be filled with unconditional love, patience and gratitude,) I am so grateful that God chose me for you… no matter what!

Cheers to 10 years of living your best life, making memories, loving hard, but most of all cheers to me being allowed to love you, to be your mom. My Ella Rose, one of my greatest joys!

Keep believing and kicking MLD to the curb! We all love you!!

Posted in Diagnosed
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When you realize it can be hard for everyone

•June 1, 2023 • Leave a Comment

Imagine having a friend from the time you were born, or a friend from kindergarten that you grew up playing baseball with, did slip and slides with and spent numerous hours with doing typical friend stuff. I would imagine it’s a great feeling, at least it has been for me, as I have watched my boys as they grew up, having this throughout their life. Now imagine your best friend gets “sick”, gets diagnosed with a disease that no one knows much about. A disease that would take him out of the country for a year, and more weeks over the next ten years. During that time, your friend is going through some of the hardest days of his young life, with his mind and body. Your journey thankfully continues on the typical trajectory of growing up, trying to figure out this life and slowly maturing as you are getting closer to adulthood. You are on the path that most get to take, but unfortunately that friend who you you grew up with and made a million memories with, seems to be “stuck” at a certain point, both mentally and physically, but more mentally. I imagine that must be really hard. To watch your friend take a different path, as the distance between you two becomes greater by the months and years. I would imagine it hurts and maybe you don’t even know it hurts but it’s different, and different can be scary, it can be filed with many unanswerable questions. I personally, would like to believe the love and friendship is still there but it is different… how can it not be. It’s ok, you are not alone as we are all hurting about what once was.

A couple weeks ago I reached out to Ethan and Chase asking them if they could take Eli to school one day before the end of the school year. I mean let’s face it, it can’t be that much fun getting dropped off every day by your mom, especially when she asks annoying questions and sings off key the whole way there. The boys were very responsive and we picked today as the day that Eli would go with his friends to school!!!

I felt like a little kid this morning! I woke late and quickly remembered they were getting him! As I jumped up out of bed, I ran to tell him that he has a special ride to school today! He greeted me in typical Eli fashion, never too high or low, but he was excited. The boys were here a few minutes later and I watched them get out of their car to help Eli. I couldn’t help but smile with a tear in my eye. Something so simple as a ride to school would make Eli’s day, and mine too!!!

I imagine this is how it would be daily if he was “typical” but he’s not and that’s ok. He’s better than typical and he’s ours forever.

I recently got some good advice when none of Ella’s “friends” invited her to their house before the dance. A teacher expressed that she is loved and cared about, but there is almost no way possible for other kids her age to understand compassion and empathy at this age. (Although parents can) It opened my eyes a bit more to the truths of how their disease not only affects us, but others as well. Mr. Kinch also would go on about Eli’s friends, and expressing to me that he thought it might be harder for Eli’s friends then I realized. How did I never think of this? Maybe I was so wrapped up in my sorrow, that I never put myself I their shoes… I will try to do better.

So, today when they arrived to get Eli, I not only saw the boys that were all once really great buds, but I saw the young men, that they have grown up to become, and for a second I realized that I am not the only one who has been challenged over the years watching this diagnosis change him. I think we are more alike then I realized.

For so very long I have focused too much energy on what Eli has missed out on since MLD has changed him. It’s hard, and it feels like a weight sitting on my chest, more times then I would care to admit. I never really thought of how it affected others outside of our family. I never thought that these boys who were such a huge part of his life could have gone through their own hurt or confusion over the years about what was happening or how to treat Eli. How to move forward with their friendship, when he seems to stay still. Friends who once scootered around the block together, are now driving around that same block, Eli can just watch from afar as their life goes on doing things that typical developing kids normally do. Yet, I’m sure it has affected them too! I’m sorry I didn’t recognize this sooner. I have loved one since birth and the other not long after when the boys met in kindergarten.

After school they texted to see if they could also bring him home which I was thrilled about. As they drove home listening to rap music (one of Eli’s favorites) they decided to stop at Wendy’s for a frosty, capping off the day in the best way! When I walked in the door from getting Ella, I walked right down to his room, and saw a big smile on his face. He told me that it was a great day being with his buddies and he hopes to do it again sometime. When we went to bed that night, we said a prayer of thanks to God for this special memory and a prayer of thanks for Ethan and Chase. Of course it was Eli’s idea, which is just another reason that he is so incredibly special.

I thank Mr. Kinch and Ash for helping me to see things a bit different, for helping me realize that this journey of life we are on is about learning and loving it all. For growth doesn’t happen when things are always as we want them to be, but in those moments that we are challenged to change and grow THROUGH them.

I believe that life doesn’t happen to us, but for us. It’s what we do with it that matters.

Posted in Along the way, Diagnosed, Life after diagnosis, living, My journey, the ride of my life
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When todays moments bring back memories of yesterday

•May 22, 2023 • Leave a Comment

Sunday morning pancakes were what was on the menu today. I don’t always make breakfast, but it was a day where we had some time before the kids were off to youth group and the others were headed out to golf, so pancakes it was.

Sometimes you have a moment that takes you back to a memory from your past. Today it was pancakes. Only one kind of pancakes will do though, as it’s all I have ever known. Aunt Jemima pancakes. Not the “complete” ones where you just add water, but the ones where you add the egg, oil and milk. Actually growing up it was often the frozen 12 Oz box of pre made Aunt Jemima pancakes. When I was with my dad on the weekend, this was often a staple. He was single for years and this was the breakfast of choice most weekends. A little thawing, shake of the box, and simply pour, cook and eat. They were delicious, or maybe they weren’t but it’s all we knew so it worked!!

It’s been almost 12 years since my dad has been gone, and I often think back to those last weeks with him. We found out he had lung cancer in mid Jan of 2012 and he passed Feb 10 the same year. A few short weeks we had to make memories, say what we needed, and try to heal any hurts that we might have been living with. I truly believed that in this time, we would make amends for anything left out in limbo and end things on a positive if that was possible.

Unfortunately things don’t always turn out like we hope, and this was one of those situations. I remember a lot in those three weeks we had before he passed away, and one in particular, I’m sure will stay with me for a lifetime.

My dad moved to hospice about a week before he passed and it was a great place, filled with his friends coming and going, along with my step-mom who never left his side. They had been married for 27 years then, and had a strong and beautiful relationship. He was lucky to have found her all those years ago.

In the evening of Feb 6th, I was in my dads room and it had been just the two of us. I was talking about life and savoring every minute. He was getting uncomfortable and had asked me to go get him a pillow out of the car, but before I did, I wanted to finish the conversation we were having. We had been talking about how we were all going to move on without him. How would it feel and would he let us know he was with us when he was gone. He really thought we would all be sad for a bit but “you will be ok” (his words) I will never forget the next thing he said when he looked at me, “you know who I am really worried about?” I said “who dad?” He then said my stepsister. I couldn’t believe those words came out of his mouth and clearly I was taken back and upset, so I walked out to get the pillow. When I came back in, a friend was now there, so we didn’t talk much, but I asked if I could have a minute of his time. I expressed how much that hurt me, whether right or wrong and he went on to give the reason or excuse that he said it. It was in these moments that I knew I had to get a flight home the next day to surprise Eric for his birthday. You see my dad lived in Florida and I had spent the last three weeks flying back and forth with my brothers and stepsister to spend time together. That night, I called Hut and asked him to book me a flight home in the morning. Not knowing how long he had, but knowing it was time for me to be with my family, he booked the flight. That would be the last time that I saw my dad alive and able to talk with me. I went home in the morning to see Eric, and later that day my dad slipped into a coma for the next two and a half days before passing away. We did thankfully make it back on Feb 9th before he left for his next journey in the wee morning hours of Feb 10th.

I have thought about that a lot over the years, wondering why this would be this way we would end things face to face. Of course when I left, I love yous were said and there was no bad blood, not knowing if I would ever see him again, but damn did it hurt. I think unfortunately that is just part of the price we pay sometimes when we come from a divorced family, but hell, it is what it is.

I find that this moment is also one of the reasons why I choose to work on my marriage, talk to my kids as much as I do, and always let them know just how important they are, because you just never know when it could be too late.

Some memories can haunt you, but they don’t have to. You can revisit them, but i think if it’s a tough memory, it’s only important to do so, when you are trying to use it as a catalyst for change.

My life is full of those moments that have propelled me into growth and change. I believe power and strength has come from those moments that I once thought would break me. Emotional wounds just like physical wounds, can leave their own type of scar tissue, BUT just as scar tissue is stronger than regular tissue, I am stronger as well!!!

Posted in Back to life and living, Diagnosed, My journey, the ride of my life
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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
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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

Ella and Eli ten years ago 💗💙

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.

Ten years later 💙💗

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
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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
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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.

Ella with her friend Ava 💗💗

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
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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
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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
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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
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