“My name is Kelsey, I am a wife and mother to two kids. Olivia who is six years old and Eli who is four.
When our son Eli was born, our daughter was three, and everything felt so perfect having one girl and one boy. Olivia instantly loved her baby brother so much. Throughout the first nine months of Eli’s life, we would notice things about him that were never too far out of the ordinary, but not completely normal either. Things such as a very enlarged belly all the time, ongoing loud and congested breathing/snoring, a very large head, an enlarged tongue, issues swallowing because of his tongue, cloudiness over his eye color, and a small lower back hump. The resemblance he had to us started fading, his teeth started growing in out of the normal order baby teeth typically grow in, he was taking longer to crawl then normal, and he had an umbilical hernia.
All of these signs came up slowly, one by one, over the course of the first nine months of his life. I had already been mentioning all of them as they would occur at each of his wellness check ups with his pediatrician. None of these things really concerned me or my husband. It was just strange there had been an accumulation of so many things, yet individually each thing was very minor.
An Unexpected Diagnosis
By Eli’s nine month check up, his pediatrician recommended a simple genetic test to cover all our bases to see if it could be something genetically wrong. I still have such a clear memory of the day we had to go have this genetic test done. The test consisted of a blood draw and urine sample that would be sent out to a special genetic testing site and we were told we wouldn’t hear back for 4-6 weeks.
As time passed, I remember never feeling concerned or worried that anything serious could be wrong, because Eli seemed otherwise healthy and happy. Also, there had never been any genetic concerns on my husband’s or my family’s history, which really eased me of ever thinking anything could be genetically wrong with any of my own kids.
Six weeks later, on a normal day at home with my kids, I get a phone call from a number I don’t know, but I answer it anyway. It’s a doctor with Eli’s test results. I felt very calm and expected them to say everything was all good, but they proceeded to tell me Eli’s tests showed he has what is called Mucopolysaccharidosis type 1, or MPS1 for short. Initially, I thought this had to be no big deal because I had never heard of it. I proceeded to ask as many questions as I could about it to better understand, but nothing the doctor was telling me alarmed me that anything was seriously wrong.
At one point during the phone call, the doctor used the words ‘fatal,’ and that struck me. I didn’t retain much of what she told me after that point because I was in shock. I asked her to please send me more information in an email, so I could read and learn more about it. She said she would and that was it.
That evening once I laid down, I told my husband about the phone call I had that day with the doctor and that the test results came back showing our baby had a rare genetic disorder. We then opened the email from the doctor and began to read about what MPS1 was together. It didn’t take more than 2-3 minutes of reading to realize our entire family’s world just turned upside down. We both immediately started sobbing with each other in bed. My husband eventually fell asleep exhausted from work, and needing to be up the next day to get back to work, but I could not sleep. I remember that night and so many nights following, I would wait till everyone would fall asleep and then go sit next to Eli’s crib, watch him sleep, hold his little hand, and just cry. I couldn’t accept what was our future, and more so our perfect, sweet, nine-month old son’s future.
Within a few days after I found the right words to describe the news, I began telling my daughter what was going on. She had always been so smart, but the way she understood most of what was going on was just amazing.
Beginning Eli’s Medical Journey
As we quickly began meeting with numerous different doctors, who would now remain in Eli’s life forever due to this condition currently having no cure, we started to learn more about what MPS1 is and what treatment currently looks like for it. MPS is a rare genetic disorder where your body lacks, or doesn’t make at all, a specific enzyme in your body that seems small but plays a big role for your body’s proper function and ultimately survival. There are six different types of MPS disorders; each one is different because each one is a different enzyme that the body lacks or doesn’t make.
Our baby Eli has MPS type one. Within the disorder of specifically MPS1, there are three different severity levels called shay, hurlers shay and hurlers from least to greatest in severity. Eli has MPS1 hurlers. The bad news is he has the worst and most severe type of this disorder that you can have, but the good news is because of that the treatment is a lot more progressive, being that kids with this particular MPS1 hurlers don’t have a lot of time and need fast, effective help. So the treatment options for Eli were very extensive, yet very advanced and have had high success rates.
First thing we had to start him on were weekly enzyme infusions. This would be a 6-8 hour infusion once a week with the specific enzyme his body doesn’t make to help his body stop regressing. Once we started those, we were told he would next need nine days of severe chemotherapy, followed by a bone marrow transplant to hopefully replace his body’s cells with proper working cells, that way his body can make the enzyme it currently doesn’t make.
From there, we had to decide on a hospital we wanted to have all of this done at because, at a minimum, we would be spending 4-6 weeks in the hospital and 4-6 months within minutes of the hospital. After lots of research and information from different doctors, families that have gone through the same circumstances as us, and help from the MPS society, we made the decision to have Eli’s treatment done at the University of Minnesota Masonic Children’s Hospital. This is the number one MPS transplant hospital in the world. They were the first hospital to start treatment on this disorder and now, they have treated the most kids with MPS of any other hospital. Because of this and many other factors, we chose this hospital, although we live in Orange County, California.
Finding A Donor
The next step was to find a donor for Eli’s transplant. My husband and I were automatically only 50% matches for him, so we were not candidates. The doctors like to check the patient’s siblings first for a transplant match because sometimes siblings can be a perfect match, but not in all cases. While we began blood work for my daughter to see if she was a match at all, the doctors started a search within the cord blood banks to find back up match options for Eli. They quickly found six close to perfect matches for Eli in the cord blood bank, but a matching sibling donor would be Eli’s best chance, so we had to wait and see what Olivia’s test results would be.
A few weeks later, I got a call from Eli’s team sharing the news of Olivia’s blood work results. They told me the results showed she was a 10/10 absolute perfect match to her brother. If she and us wanted to move forward with her being his donor, that would be the best case treatment option for Eli. After that phone call, I immediately called Olivia into my room to talk to her. I have always kept a very open and close relationship with my daughter, so she had already been aware of what she had been getting blood work for. She knew we were going to be waiting on the doctors to call us to tell us if she was a match or not to potentially help her brother.
As soon as she came into my room, I explained to her what Eli’s team just told me on the phone and her face lit up. I explained to her what would take place if she wanted to be her brother’s donor, and how much that would help him with the disorder he has. She did not hesitate for a minute and immediately said, ‘Yes Mom, I want to help him.’ Looking back, it seems crazy for a 4-year-old to make that type of decision, but at the same time, I know her heart and the love she has always had for her brother. I knew what her answer was going to be before I even asked. I made sure to have ongoing open conversations about everything with her so she could understand as much as possible to feel as comfortable as can be with what was coming in the near future for her and her brother.
Getting Things Going
Now that the plan was set for everything, it was time to get things going. We initially traveled to Minnesota for Eli to have seven different surgeries as preparation for his upcoming treatment. After his surgery day, we were able to fly home to let him recover for two weeks before heading back to Minnesota for the long haul. Eli did amazing with his recovery, never let anything get his spirit down, and then it was time. My husband had to stay home and work, so the kids and I packed up five months worth of what we needed to take with us to Minnesota. We’d be there during their winter season and all of the major holidays from Halloween to Valentine’s day.
We said goodbye for now to all of our family and friends, then went on our way not knowing exactly how long until we would see everyone again. When we arrived, we were able to stay at the local Ronald McDonald House, and that was a huge factor in making me feel safe through our time away from home. Once we got settled, it was time to check into our stay at the hospital where I would be living with Eli in a special bone marrow transplant room on the BMT floor through all of his treatment, until he would hopefully become stable enough to go back to the Ronald house.
Our future was unknown because treatment outcomes can range from successful to fatal. We were always just praying for the best and staying positive. Eli then started chemotherapy, which he received every day twice a day for nine days straight. Throughout those nine days, Olivia was staying with my mom who came to visit, and they stayed in our room at the Ronald house. My mom said each morning after breakfast, all Olivia wanted was to go to the hospital to spend the entire day with her brother until bedtime when she had to leave again. I absolutely loved being able to keep my babies close with each other each day.
Time For The Transplant
Immediately following the nine days of chemotherapy, on day ten, Eli would receive his bone marrow transplant. At this point, my mom went home and my husband flew out for a few days to be a part of what was the biggest day of our lives. Very early in the morning on transplant day, I woke up Olivia to get her ready for her surgery. I decided I would stay by her side through surgery while my husband stayed in Eli’s hospital room with him.
Olivia knew enough about what she was about to do to be excited, but not too much in detail to where she would feel nervous or scared. I walked with her all the way into the operating room and held her hands while they put her to sleep. She was such a brave girl the entire time. During her surgery, they would be extracting her bone marrow from the backs of both her right and left hip bones until they had enough for Eli. They would then filter her marrow in preparation to put it into Eli the same day. After her surgery she did ok, but was slightly sore across her lower back and a bit nauseous from the anesthesia. They rolled her to her recovery room, which they were able to make right next to her brother’s current room, so when she felt better it would be easy to go in and see him.
A few hours passed and the nurses came in and told us her bone marrow was ready for her brother and they were going to bring it upstairs to his room. By that point, Olivia and I had already migrated back into Eli’s room with him and my husband, so the four of us were together again. When they brought Olivia’s bone marrow into the room to put into Eli, there was a very intense presence in the room just knowing we were about to witness our daughter’s cells be put into our son where they would become one right in front of our eyes.
They hooked up what looked like two bags of blood, which was Olivia’s marrow, into Eli’s current IV lines. My husband had the honor of releasing the tab to allow the flow of the marrow to enter Eli’s body through the line that went directly into his chest to his heart. The nurses just monitored as her marrow entered his body, we just watched, and the kids sat on the bed together playing. The process of this only took about twenty minutes and then the official bone marrow transplant was complete.
Monitoring Post Transplant
Following that day, we were told that’s when lots of the potential complications would start. My husband had to return back home for work, so it was just the three of us again. They monitored Eli closely each day, checking to see if his body was going to accept or reject his sisters cells. They also prepared for the side effects from nine days of chemotherapy to hit him, which would take about two weeks post chemo. Eventually, Eli struggled with a few very minor chemotherapy side effects, but nothing that lasted more than two days. Then his hair all started falling out, so he had his very first hair cut on the floor of his hospital room.
As the days went on, the doctors started to see a trend with Eli and his blood count numbers. They were getting higher and higher each day, indicating his body was responding perfectly to his transplant and we could potentially head back to the Ronald McDonald house sooner than we would have imagined. On day 21 of being strictly confined to the four walls of our hospital room, we got the news Eli’s numbers were high enough to leave. This felt like record breaking news because from what I had gathered from other families going through similar journeys, 9 days for chemotherapy plus 12 days post chemotherapy and transplant was an extremely short hospital stay.
We were so beyond happy about the news and packed everything up from the hospital room and went back to the Ronald house. Yes, we got to go back to Ronald, but we weren’t yet able to go home. After a bone marrow transplant, they require at least one hundred days of you staying in very close proximity to the hospital you are being treated at to monitor you a few times a week.
With both my son and daughter back together again, and now overnight we could all be together, my world almost felt complete. My husband was only able to visit a few times throughout the five months, for just a couple days each time, but we were grateful for any time we got all together.
Once we navigated our new normal, we made the most of our time staying in a new state, at a new house, making new friends, and having so much quality time just the three of us. We have so many memories of that time that most people I feel would refer to as a bad memory, given our circumstances. But we made sure to always look on the bright side, and it helped us all tremendously that Eli continued to be his happy little self through it all.
Finally, we reached our 100 days post transplant, and things were still looking so good for Eli. He truly had one of the best recoveries the doctors had ever seen, thanks to everyone involved and ultimately his sister, Olivia, being his donor. We then were told we were clear to head back home and my heart dropped. There were so many unknowns as to how everything would play out for Eli and us through this journey. I wasn’t sure if I would ever hear those words, let alone at the earliest possible day we could receive that news.
Eli had to have one final surgery now, where they would change his main IV lines through his chest to a port for long-term use, and repair a few other things that failed after the first surgery he had. After that surgery went smoothly, I immediately arranged our travel back home and started packing our stuff from the past five months, which didn’t feel like a hard task at all given the reasons I was able to pack it all up. Because I would be flying home with both kids, I sent most of our stuff in boxes which helped me so much.
The day finally came, and it was travel day. As nervous as I would sometimes get knowing I would be doing a two-day flying trip back home with my babies alone, I was just so beyond excited to be reunited with my husband and all our immediate family at our flight’s touch down. We were so blessed to be able to fly private both days, due to Eli’s compromised immune system, to help protect him, thanks to a company called Aero Angel. Because of that, once we arrived home, everyone would be able to greet us after our long trip right at the door of the airplane. All of our travels went so smoothly, the kids did awesome, both pilots were so sweet and accommodating to us, and we couldn’t be more ready to be home.
As soon as we arrived back in Orange County, my husband and all our family ran up to our airplane door with a welcome home sign, and greeted us with so much love and happy tears. It was such a beautiful memory we will never forget.
After settling back into our home, we knew things weren’t going to ever feel completely normal again, but more so during the next seven months. Even though you are allowed to return home 100 days post transplant, because of Eli’s still compromised immune system, we would have to be very cautious with him for a total of one year post transplant. Throughout the following year, Eli continued receiving weekly enzyme infusions, although he already had a successful transplant and the infusions were considered optional. Doing weekly enzyme infusions could just potentially further help him and his condition. His port that he did his weekly infusions through ended up getting infected two times, back to back during that year, and the doctors decided it needed to come out. If we wanted to continue infusions, we could put a new one in at a later time. Ever since those infections, we have never felt the need to replace the port or continue with infusions.
Because there is still no cure for any form of MPS, Eli is required to go back to Minnesota every year for the rest of his life for them to check him from head to toe and get a full report on how slow or fast his disorder is progressing. They also check to see if there are any new issues we need to address. So far, we have been back to Minnesota two times since his transplant for his yearly check ups, and both times we have had the best news all around for Eli.
No new concerns from any of his doctors both years, no new test results from all of his tests, and positive feedback about his future. We have left each year happier than ever. All of this wouldn’t be possible unless Eli was and continues to be 100% his sister on the inside, so each year, that is the biggest test we anticipate the results for.
This past January, during his two-year post transplant annual trip, we got a call on our way to the airport heading back home from our visit to Minnesota. It was the lab results for Eli’s engraftment. Engraftment means how much of his body is his or his donor’s. The doctor came on the phone and didn’t waste a second telling us his results showed Eli is still 100% his sister’s cells. That is why he is and will continue to do so well. We couldn’t be happier. Olivia is now six and Eli is three; they are the best of friends and love each other so much. Every day being able to have a front row seat to watch their story is just incredible, and my husband and I love them more than life itself. Our biggest honor in this life is being Olivia and Eli’s parents, and we hope to further grow our family in the near future as well.”
This story was submitted to Love What Matters by Kelsey Vasquez of Orange County, California. You can follow her journey on Instagram, Youtube, and Rumble. Submit your own story here and be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.
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