“This year will be another fight for Charlie to live. I will never be able to put into words what transplant is like. Somehow there is still beauty in this journey. We appreciate life more … God has once again paved our way to one of the BEST hospitals for MPS1. He has opened doors and windows that are normally closed to a struggling single Mother. I feel peace and his presence.”
Charlie’s Mom and Strong Advocate
I’ve been at this for a while now. “At what?”, you may ask. That would be working with families in telling their stories. That is the stories that tell others about their experience of helping their child to battle a rare disease. The stories include the heartache that comes with the realization that they are on a journey as a family. Parents receive the news that their child will battle something that they very likely, had no knowledge of. That is after a search for answers takes place when the symptoms begin to appear. There are those occasions in which a family’s health history can help one to draw a conclusion. Most often though, the diagnosis comes as news that brings shock and complete despair. Life will be very different than what was expected. Challenges will be faced that were yet unseen. Children are by nature, resilient in their ways as life’s lessons are learned. This is clearly seen on a much larger scale when a child battles something like a disease that is rare and fatal. The things that they show us most certainly caught my attention as I began to write. I often use words that are more than just catch phrases to describe what I see. I tell people that I believe that the kids that battle are the most special and the most amazing. They have a way of changing people’s lives and their way of thinking. They often bring people back to thinking about the things that are important in life. They just have a way about them that is not easy to put into words.
Our lives were changed drastically when my wife gave birth to our third son who we named Benjamin. Benjamin was born with special needs. So far, I have gotten away with drawing a comparison. That is between being the parent of a child with special needs and those parents who experience the reality of having a child with a disease that is rare and fatal. I always say that while we have experienced our own set of difficulties along the way .... they pale in comparison to what a family with a rare child will go through. My wife had made me aware of her family history at the very beginning of our relationship. That history brought with it the reality that having a child affected genetically was a possibility. As time passed, the possibility of something like that happening slipped from our thinking. After all, my wife had already given birth to two healthy babies. Our boys were growing and our desire was to try for a little girl. I often like to say that we wanted a girl but we got a Benjamin instead. Are we sorry that this happened? I mean has this kid been a burden? Again, there have been challenges along the way but we absolutely love our Benjamin. We feel blessed for having him all these years. You have to know him personally to know what a truly special individual he is. Has having a child with special needs affected us financially and otherwise? Absolutely! When it comes to my wife’s family history ….. do we regret the fact that we didn’t consider the genetic predisposition that existed more fully?
Benjamin’s life was meant to be part of ours. He knows that he is loved and we have never regretted having him. He knows that he is special and having him with us has been a special experience. I am a father to three boys. Rather, three grown men. Being Benjamin’s daddy is part of who I am as a person. He is a big part of my identity. I always like to say that the love that I have for my son with special needs has lent itself to the love that I have for those that battle. This is absolutely true. Following kids that battle rare diseases has changed my life and my way of thinking. The sensitivity that I now have for these very special warriors began once I was made aware of the journey of one little girl. I have always loved kids with special needs because of Benjamin. Falling for the kids that battle rare diseases was just a natural fit for me. They truly do melt a person's heart when we choose to take notice. My life is richer because of the experience of following these children and I can’t help but to share the experience with others. I do that through my writing about them. When the time was right, being Benjamin’s daddy and moving through a trail of events opened up a different kind of world. This experience was meant for me. I have a mom in mind as I write this. She also feels that it was meant for her to experience much of what she is going through as a parent. Her daughter’s life did not come about by accident. Rather, both mom and daughter were meant to experience the kind of love that exists between them. The following is my attempt to tell their story, even if only in part.
Searching for a Beginning
So many girls would have been thinking about being a mom as they considered their plans for the future. At that time in a girls life, Amanda’s plans didn’t include parenting. She had been through more than most girls her age and therefore, she had never given having her own family much thought. Even so, Mandy Sinard had been career minded as she thought about her future. Certainly, somewhere in the recesses of her mind was the knowledge that she may be a mom someday. However, she was just getting started in life as she stepped out on her own at age 18. These days, Mandy is the proud mother of two children and much has taken place between then and now. Even from a distance away and in a short period of time, I have grown in my appreciation for Mandy as a person. She has exhibited the character traits that are possessed by the moms that have been a part of the stories that I have written. She has shown strength and determination, in part because that was the only choice that she had. In everything, she has exhibited a type of love that we have seen in other rare parents. A love that is profound and undying is being revealed through her actions. Mandy’s view of herself may be considered a little more reserved or even self-deprecating. In a chat that we had one day, she referred to herself as kind of ditzy and even a mess. She explained, “I'm that friend who always locks my keys in the car and forgets something at the store. I don’t buy cards or gift bags for gifts. I forget dates and I'm always late .... Everyday that I live is unplanned and late. I'm just a mess lol. Somehow I keep up. I've always been this way. I struggled with it in my early 30s but now I realize it's just who I am.”
My opinion concerning Mandy would be a little more charitable. I see her as being a person that is strong in character. Her determination has been forged out of difficult circumstances and a will to survive what life has brought her way. She knows that she is not perfect and that she has made mistakes (we all have), but she doesn’t let that get her down. Mandy reveals through her own words that she has faith in God that is growing. She believes that what she has been through is being used to carry out his plan for her. Mandy is a person who possesses a good measure of humility and proper self-perception. She can laugh at herself a bit while doing what needs to get done in a responsible way. I’ve jumped ahead a little bit in order to set the stage ... so to speak. This story starts with Mandy’s beginning as an adult and it takes us through an experience that she never could have expected. Let’s get started. Just like with most stories about a family, this one begins with two people that meet and fall in love. That’s what would happen with Mandy as she set out in the beginning and met a man named Tony. The two of them would meet in south Georgia. Mandy was working at the time and was waiting to begin college. A person’s plans are often altered when they meet someone unexpectedly and that was what would take place. The two of them would begin what would be an almost ten year relationship. They would never marry but as Mandy would explain, they just “felt married” after being together for so long.
They had a good life together but unfortunately, Mandy and Tony’s relationship would break down. They would eventually grow apart and separate. She still refers to her former boyfriend as being a good man and somebody that she will always love. As we have already stated, Mandy’s plans had not included children but at age 20, she had become pregnant unexpectedly. Mandy’s pregnancy would progress normally as the big day would take place. Again, her plans would be altered by the fact that she would soon be a mom. The experience of carrying your first child would change almost any woman and this event would be a life changing event for Mandy. She would give birth to her first child, a baby boy, in Fort Oglethorpe, Georgia on the 29th of August in 2002. Tony and Mandy would name their newborn son Hayden Paul. He was born a perfect little man, having all of his fingers and toes and being covered in brand new baby skin. Even with not being part of the plan initially, this baby boy would be so loved from the very beginning. The occasion of his birth was one that brought great joy to the entire family. Hayden would be the first grandchild and the only one for 7 years. Mandy shares a little about her newfound joy of parenting with this, “I was so happy to be a mom and I didn't let anyone really hold him, lol. He didn't stay with my mom until he was a year old! I redid his nursery every time his dad got a pay raise. He actually had learning centers in his room. He was doted on and loved so much.”
Mandy would refer to Hayden as being rotten at times. I think that means that the little guy was a bit of a strong willed child. She would go on to say, “He was the worst when he was 3 years old. That's why we didn't have more…”. The challenges with Hayden were accepted as necessary. One thing Mandy would discover through the experience of having Hayden in her life was that she LOVED being a mom. Even though the relationship between Tony and Mandy had broken down, something good had come of it. That would be having Hayden in Mandy’s life. The amount of love that she has for her son is great and it is one that will never fail. In the following, Mandy describes what she sees in Hayden, “My son is absolutely dreamy. He's everything you want in a child. He has the smarts and athletic abilities. He is just a dream come true.” There would be a source of heartbreak connected to Hayden as life continued. When two people part company and have children, this presents a problem. Which house does the child go to? At age 13, Hayden chose to go live with his dad and this left Mandy all alone. As she would describe that experience, Mandy would state that she found herself being “completely lost in life”. As she would put things to me, Mandy dealt with her loss by throwing herself into her work and into attending college where she studied for a career in social work. She rarely dated, and instead devoted herself to her career goals. Things would change in 2015 when she met a man named Scott.
Again, Mandy found a man that she loved and the two of them would be engaged to be married. However, the relationship would last only three years. People don’t always understand that the number one quality in a long term relationship is more commitment than it is love. Mandy stated her feelings about Scott saying that she felt that Scott loved her as a person but that he wasn’t in love with her. So again, after three years, Mandy found herself being alone. And again, she found solace in her work as she settled into a position as a medical receptionist. In fact, she worked long hours, oftentimes working for others as they went on vacation. Having this kind of schedule helped Mandy to keep her sanity and to find sleep at night. Once again, being broken hearted, the furthest thing from her thinking was getting involved in another relationship. She just wanted to work and sort out her life for a while. However, like having her son Hayden, the events that would follow would have a profound impact on Mandy’s life and the course that it would take. Let me pause to emphasize the fact that things don’t always go according to our plans. Sometimes, circumstances that we could not foresee take place and they have a profound impact on our lives. Let me tell you that this writer will have been married to the same girl for 40 years this December. That kind of thing takes place less and less as time continues. For a lot of people, it takes a while to find that person who will be their life partner and so, things often happen along the way.
A Life Changed
Sometimes, the things that happen are those that we would consider to be mistakes. However, even those things can be used to shape our lives and who we are as a person. These are the things that often have a profound effect on us. With this in mind, let me tell you that Mandy would meet a man over social media and she would begin a relationship with him. They both had mutual friends and made the connection because of that. Again, Mandy had no intention of starting another relationship. She was still heartbroken over the fact that her engagement had been broken. On top of this, she had plans to move North in order to be closer to her son Hayden. It just happened that this person was relentless in pursuing her and he wanted to date Mandy. He seemed to be nice and at the time, the situation felt right. Mandy never saw a future with him but also never sized him up for what he was. She blames herself to this day, feeling that she should have known better. They would date for four months and you may be able to guess what would happen next. Mandy would conceive and would be expecting a child. It would soon follow that her baby’s father would choose to be absent from the situation. From the very start to be exact. Mandy would be alone and pregnant. She was embarrassed and would find herself being depressed most of the pregnancy. At the time, she had no idea how the life inside of her would impact her existence. She could not know how this child would help her to grow as a person, nor the type of love that she was about to experience.
Mandy did what you would expect from her at this point. She worked extremely hard and for long hours. This while planning for the event that would be the birth of her next child. She was on a mission to provide everything that would be needed for a newborn and beyond. She would do this even though there were complications with her own health during this time. Mandy’s blood pressure would be high during her pregnancy and her blood sugar would increase to levels seen by a true diabetic. Being a single parent was not something that Mandy had ever experienced and the thought terrified her. She explained, “I tried to get excited but all I could think of was how hard it was going to be on me.” This was her thinking without knowing just how big of a challenge it was that she was about to face. Sometimes, all that you can do is to put one foot in front of the other and move forward. That is what Mandy did. Even with the challenges that normal gestation brings, and the health concerns that existed for Mandy, her pregnancy would move along. She was going to be a mom once again and not just any kind of mom. The doctor would decide that it was best to schedule Mandy for C-section. Her baby was expected to be 13 pounds in weight and delivering a baby that size ... well, would be difficult. The day would finally arrive and that day was Sunday, the 13th of January in 2019. While the new bundle was expected to be a really big baby, Mandy’s brand new baby girl would be born at a weight of 9 pounds. She was 21 inches in length.
All of that which Mandy had been through with the pregnancy and the fears that she had dealt with. All of that faded as she looked at her beautiful baby girl for the first time. Mandy shares, “When I held her for the first time I fell in love. Of course ... I knew I would”. Mandy said that the beauty that she had seen in her newborn daughter was at that moment taking her breath away. Her baby had all of her fingers and toes and she had hair down to her shoulders. Dark hair! This little girl’s existence in this young mom’s life was meant to be. All at once a bond that had existed before her daughter was born was now as strong as any bond could be. Mandy would name her daughter Charlie Grace. She was beautiful from the very start but there were also some things that were noticed by Mandy. As Mandy stated to me, “...something was wrong with my baby. I knew right away ... I saw Charlie's features but wanted to deny it so badly. Her eyes looked like that of an old soul.” Mandy could see cloudiness in her baby’s eyes. Holding her, she noticed that Charlie Grace had a small bump on her spine and her little hands were different as well. They were curved. In the depth of her heart, Mandy knew something. The doctors would monitor Charlie as they normally would a newborn but there was also a concern over Charlie’s heart. The doctors would term it as being heart failure because her tiny heart was not operating as it should. An echo-cardiogram had been ordered and the findings brought some concern. There was a valve on the left side of Charlie’s heart that was leaking.
Call it a mother’s intuition, or whatever you will, but Mandy had been concerned. She believed that there might be a problem with her baby’s heart as she was carrying Charlie in the womb. When being checked out by an ultrasound technician, Mandy had been assured that her baby’s heart looked healthy. Sure enough though, Charlie would be diagnosed with unexplained heart failure right after her birth. The change of emotions that must have occurred in Mandy over such a short period of time. All of the concerns over being a single mother faded as her gaze became fixed upon her newborn daughter. But then, there were things that Mandy had noticed and there was the issue with Charlie’s heart. Although the condition was something that needed to be monitored, it was felt that it was something that shouldn’t keep mother and child at the hospital. They were discharged a couple of days later with instructions for things that Mandy needed to keep an eye on. Things like watching Charlie’s breathing and keeping watch for the presence of blue coloring in her lips. Charlie had looked great upon leaving but her condition had worsened during a two day follow-up. She was prescribed two types of medication for her heart and Mandy was informed that Charlie would need to be hospitalized if the situation worsened. Thankfully, Charlie’s condition did not worsen but rather stayed the same and she was able to avoid being hospitalized. Never once during Mandy’s pregnancy had she considered the fact that this baby could be affected by anything that was related to her family’s medical history.
What about the things that Mandy had seen as she had first looked at her newborn daughter? Had the doctors also seen something in Charlie’s physical features? Part of Charlie Grace’s regular newborn screening had been to test her for a condition called MPS. This is the abbreviation for the clinical name of Mucopolysaccharidosis. Why was this testing of significance? Mandy had never considered that MPS could be a factor as she carried her unborn daughter. Most people would not even know what MPS is as it is considered to be a rare disease. Mandy did have some knowledge of it because there had been a person in her family history with the disorder. Not just any person but her Aunt Christine. In fact, Amanda had been named Amanda Chrisitne after her mom’s sister. Unknown, at the time, was that Aunt Christen had MPS1, also known as Hurler Syndrome. Christine died at the age of only 6 years old in 1971 of what was only known as a storage disease. Amanda spoke of her Aunt Christine to her friends when she was young and she will tell you that this now haunts her at times. With Charlie, it is as if Christine “was back and looking at another chance at life”. With this, I may be getting a little ahead of myself as I write the story. Charlie’s newborn screening had come back showing that further testing needed to take place in regards to the presence of MPS. Mandy would obviously be concerned. This as she took Charlie to the hospital in order to have the retest performed. Mandy’s hope was that Charlie Grace would be found to just be a carrier of the defective gene that causes the disease.
So Very Rare
Hurler Syndrome appears in one of every 100,000 births. Rarely, will it be found in the same family twice. This is because both parents have to be carriers of the same defective gene. Even so, deep down inside, Mandy had the feeling that Charlie would test positive for Hurler Syndrome. She explains, “Once I got the call that Charlie would need to retest, we knew. I saw her physical features and I was in a fog.” Mandy would take Charlie for the retest, all the while doing so with the great concern. Charlie Grace was her newborn baby girl and the bond that existed between the two of them was already like none other. Charlie was an exceptionally beautiful little girl from the start. The physical characteristics of Hurler Syndrome would not be able to hide that fact. For Mandy, the anxiety over being a single parent was about to grow greater with the news that her little girl would battle for her life. The stuff that Mandy was made of would soon be tested but first, the results of the testing would come. Mandy explains her reaction and the resolve that would follow as she received confirmation, “I fell to the floor when the results came. I googled and thought she would be the worst case. I just didn't know what to think. I clinged to hope and focused on saving her.” Remember, Mandy’s Aunt Christine lived to only the age of 6 years. The news that Charlie Grace had Hurler Syndrome came when she was just 3 weeks old. Mandy cried for her newborn daughter but her resolve to help her baby was instantaneous. Charlie Grace was hers and Mandy had to do everything in her power to save her. What was Charlie facing?
As mentioned earlier, Hurler Syndrome is part of a larger group of disorders that fall under the clinical name Mucopolysaccharidoses or MPS. Hurler Syndrome (MPS1) also fits into an even larger category of diseases that are called Lysosomal Storage Disorders (or Storage Disorders). I’ll keep things at my level of understanding for the sake of explanation. Lysosomes are a part of the cells in the human body that contain digestive enzymes. These enzymes are used to break down wastes within the cells of our bodies. If anyone of these essential enzymes is missing, the wastes that the enzyme is responsible for breaking down are instead stored in the cells. The science is fascinating but the results of this deficiency is devastating to the outcome of a person’s life. The end result is that these wastes are built up in the body and that cause severe damage over time. In little Charlie and in the cases of other children, having Hurler can affect the brain, the heart, and other internal organs. Cognitive decline will be something that is very noticeable to the loved ones of these children. The sooner intervention takes place on behalf of the child, the better the chance that abilities in this area will be maintained. Mandy knew what the future held and she had to save her daughter. Everything that she was about to go through on behalf of her daughter was about to be another source of character building. This was in addition to the life struggles that she had already faced.
The title of this story, Not By Accident, really originates from Mandy’s beliefs concerning the advent of her daughter’s life. All of the stories that I have written are about kids that battle rare disease. Even though there could be many known cases of each type of rare disease, the numbers are small when compared to the total number of children in the population. Did you catch the number, as stated earlier, for Charlie’s type of Hurler Syndrome? One case in every 100,000 births. That’s rare enough but this is even more so in Charlie’s case. Rarely will the disorder be duplicated in a family like Mandy’s. The disease skipped a generation because both parents will have to be carriers of the same defective gene for it to show up more than once (This, although one set of parents can have more that one child with Hurler Syndrome). In Mandy’s case, she could be a carrier of the defective mutation of the gene that causes Hurler Syndrome but she would have to meet someone that carried the same exact genetic sequence. How rare of an occurrence would that be. Charlie’s father entered Mandy’s life and was gone a few months later. Mandy had no intention of being involved in a relationship at that time but she was pursued by Charlie’s father. She was in the process of healing from a failed engagement and being involved with another man was the furthest thing from her mind. Mandy’s belief that Charlie’s life was meant to be has some merit to it. In fact, one could make a case that this little girl’s life is by design.
Mandy stated, “I actually believe that I met Scott so I could meet Charlie's Dad. I would have never had mutual friends had I not met Scott years before. He (Charlie’s father) was from a small town I had never even heard of. It was over on the other side of the mountain between us.” Mandy and her fiance’ had tried to have a child together but they were never able to. Mandy continues, “It just wasn't meant to be but Charlie’s father and I share the exact same genetic sequence of the defective gene for MPS. Charlie is just so rare, there's no way to deny she is meant to be .... It all makes perfect sense to me.” The purposes for this little girl being brought into this young mom’s life is now being played out. In fact, much has taken place already. Whatever course Mandy’s life will take, Charlie’s life will be an integral part of it. This story was meant to take place. Again though, I may be getting ahead of myself as I write so let’s continue. Knowing that her Aunt Christine had lived to only the age of 6 years, Mandy could only think the worst but she was not about to let that stop her from taking action. Finances, or lack thereof, would not get in this mom’s way as she flew into action. Feeling deep down that her baby girl may be affected, Mandy did everything that you could to have the retest for MPS moved along. She shares what she did and also what the end result was, “I pushed the timing of the results by harassing them and soon found myself on the floor screaming.”
The testing would, in fact, reveal that Charlie had MPS1, Hurler Syndrome. Prepared for what the truth may be, Mandy was still completely distraught over the news. There had been that glimmer of hope that the test results would come back negative. Any hope for that was now gone. Stories about rare families will usually contain similar responses and they will reveal a type of transformation that takes place. What will begin with complete despondency over the news received will end with the will to move forward and to fight the battle that has been waged. Mandy would soon wake one morning to see a comment on her Facebook page that would energize her and cause her to take further action. As stated by Mandy, “It was a fellow Hurler Mom named Jill. She said, ‘Lay on the floor crying, screaming and lay there for a week if you have to but you then get back up and you fight for your daughter.’ That's all it took. I washed my face, made a cup of coffee and I called…” Along the way, Mandy would go into full research mode, learning about the disease and also about the methods of treatment. She wanted to learn everything that she could. Her baby was only weeks old at the time of the diagnosis. Mandy would soon learn what a nightmare it can be to deal with the medical community and insurance companies as well when you have a child with special needs. Immediately, she had found the people that make up the Hurler Syndrome community over social media. Mandy would learn about things such as Enzyme Replacement Therapy and Bone Marrow Transplants.
The Battle for Charlie Grace
The first, being ERT, was a way to deliver a substitute for the enzyme that Charlie’s body was missing. The second procedure, known as BMT, would allow Charlie’s body to produce the missing enzyme on it’s own. Enzyme replacement is used between the diagnosis and the transplant to preserve pre-transplant condition in the child. Mandy said that she was thankful to God for the Hurler moms that would direct her to the top three hospitals in the nation for having Bone Marrow Transplants performed. She would learn that having a BMT performed would be the best thing for Charlie’s longevity and for her quality of life. Through all of this, she had learned that Dr. Davies at Cincinnati Children’s Hospital was her best hope for a successful transplant and that is where she had made the call to. Mandy used these words to describe what happened as she called, “She (the doctor) took my call immediately. I told her that I heard, she was the best and that I needed her to save my daughter. She agreed and it was set. I knew where we had to be and what we had to do.” What would start to take place as they hung up that phone was that the actions of a single mom would begin to reveal something that can’t be denied. The bond between Mandy and Charlie Grace was so strong and the love that was present was like none other. A bond between a mother and her infant daughter … a daughter that had great need. It wouldn’t happen overnight but Mandy’s thought processes began to work out a plan of action. She had to somehow get her daughter to Ohio in order to give her the very best chance for success.
This is a situation that had to be worked out by Mandy and it would be! There was much that would need to take place but nothing would stop this mom from accomplishing her objective. Almost right away, Charlie would begin to receive enzyme replacement therapy. She would receive her central line for infusions at 28 days after her birth and she would receive her first treatment a couple of days later. Mandy had been a very busy mommy in that first month. BMT does not normally take place until the child is 3 to 4 months of age and Mandy had used all of her maternity leave. That meant that even with all that was going on, she had to put her scrubs back on and return to work. On top of figuring out how to get to Ohio in the first place, she also had the details of the move and of getting their belongings into storage. Life was chaotic but this life named Charlie Grace now pushed Mandy to give it everything that she had. She shares what life was like with the following, “I worked 12 hours shifts. In between Patients and paperwork, I made and received phone calls. I scheduled Charlie's very first surgery to have a central line placed in order for her to receive enzyme replacement therapy. On my day off I bundled her up and left at dark to travel for ERT and we came home at dark. After 12 hours of exhausting shifts I picked my baby up from my Mom's. I brought her home, washed her, and flushed her central line myself. Then we went to bed and it was a rinse and repeat.” What Mandy had to say next was incredibly moving to me.
This would take place as the long days would end and it was finally time to lay down for a few hours of rest. Mandy speaks about what she had been feeling as she looked at her beautiful little girl, “I’d lay in bed, soaking in her beauty. It was obvious early on that she was not of this world. She was a Mama's girl right away. She cried for me while I worked but she was just fine in my arms though. She was made for me…” and in fact, it was true. Charlie Grace was made specifically for Mandy and she would find a way. Mandy knew that the only way possible for her to get Charlie to Ohio was to leave her job while away. The result would be that she would be at the mercy of medicaid for Charlie’s insurance. As one might expect, it would be doubtful that they would pay for the BMT if it was performed out of state. The entire thing would be a hard fight for Charlie but in the end, Mandy would prevail. Mandy shared, “I didn't have time to keep beating a dead horse. I stayed up super late for nights in a row. All the while working, doing weekly ERT, and trying to figure it all out. How to stay afloat and accept all this craziness.” Mandy would interview two doctors at two different hospitals in Nashville. Both had been given as options by medicaid but Mandy felt the experience for treating her daughter was waiting for them at Children’s Hospital. She had already met with the people who she felt were the best and that took place with the team in Ohio.
The entire situation would be a struggle but the outcome would be just what Mandy had hoped for. Her hard work and research would end in Ohio Medicaid paying for Charlie’s medical expenses. The move was on! Mandy said that her family had hoped that she would have the transplant done locally. This was so that they could visit more and also so that she could keep her little apartment. However, the most important consideration in all of this was Charlie and Mandy just felt that her daughter’s chances for survival were better up North. She simply packed her bags and left with Charlie. Mandy’s 2000 Toyota Avalon was stuffed to the gills. Here is more of what she would relay to me, “I couldn't see out of any windows except the one in front of me and the one next to me. It was kind of funny because that's the only view I needed. I had $160 and no idea if our old car "Ruby Girl" would even make it. But no doubt was stopping us” …. “I knew I had to get Charlie to Cincinnati. After two failed attempts to get Tennessee Medicaid on board I packed up our old car that had 300,000 miles on it and headed North. I never looked back. I couldn't. I didn't even know if Charlie would survive transplant” What exactly is it that happens during a bone marrow transplant and why can they be so traumatic? I’m learning as I go along but I’ll try to explain as best that I can with a little help. BMT, or bone marrow transplant, replaces the blood-forming cells (stem cells) that are missing the important protein with healthy ones. With healthy blood-forming cells, the body will break down the waste that was building up (the missing enzyme is now being produced). This keeps the organs from being damaged further. This will also help to better preserve existing cognitive function.
The type of BMT that is used for Hurler Syndrome is what is called an Allogeneic transplant. The healthy cells that are transplanted come from a donor, family member or a matching person, or through umbilical cord blood. The first step in the process involves chemo-therapy to kill the unhealthy cells before transplant of the good ones. You can only imagine how this would make a little person feel as a result of receiving chemo-therapy. After this, the healthy cells are given to the child through a central line, or IV catheter. The new cells travel to the inside of the bones in order to begin to make healthy blood cells. The success of this is called engraftment. Things like infection, anemia, and bleeding are complications that can set in. Organ damage is possible as a result of the transplant and the survival rate is in the range of 80 percent. This can leave parents with an uneasy feeling for sure but the process is the best hope for early intervention in slowing the progress of Hurler Syndrome. Most all babies that are otherwise healthy will come through the procedure just fine but there is always that tension created by the what ifs. Whatever the risks were that were involved, Mandy was on a mission. It was to give Charlie the best life possible. Life had become a whirlwind of events and she had no doubt been taxed mentally. Not only was there the stress over the procedure but there was also concern over what would await them once they returned home. Mandy explains both her thinking and the resolve that she had developed, “I couldn't even begin to imagine the hardship after returning home. Coming home from the transplant and needing a place to stay with no money and no job. Even so, I couldn't see past getting to Ohio for this life saving thing anyways. I tucked away that stress because I was on a mission to save Charlie Grace. I didn't care if we lived in a cardboard box as long as she was alive.”
A Determined Love
It would be in the Winter of 2019 that Mandy would arrive in Cincinnati with Charlie Grace. They had vey little money and they were in great need. Mandy was so thankful to learn that the Bone Marrow Foundation had provided her and Charlie with the use of an Air Bed and Breakfast while Charlie was undergoing preliminary testing. The goal there was to determine whether or not Charlie’s organs were strong enough to endure the transplant. Think about a single mom with no help and a baby to care for, trying to move luggage around without any help. That is what Mandy would have to do with every move to a new place or facility. With her own words left intact, “I soon found out that getting a baby inside our apartment AND all of our luggage was harder than I thought. For some reason, out of all that I had already had to do for these past months, the luggage was the hardest. I cried ... I finally just cried and cried. That damn luggage was heavy and the damn stairs were so steep.” Sometimes, a good cry is what we need to release our emotions so that we can carry on and that is what Mandy would do. She would carry on, again doing the best that she could in all things. Her and Charlie were now alone in a strange place and there was a lot of adjusting to undergo in these new surroundings. Mandy said that she would find a groove to fall into as she became more familiar with the hospital and while attending each appointment. As a result, she would become more at ease with everything and she would be encouraged by this.
Sometimes, it seems that Murphy’s Law will enter most every situation. As Mandy would become more settled inside herself, she would receive a call that would change things. For some reason, the donor for the bone marrow could not complete the process and would back out for personal reasons. How could that be? Mandy would be tested further as a result and the search for a new donor would begin. It would only take a few months to find another donor but by that time, the funding for Charlie and Mandy’s lodging would be due to run out. Again and again, Mandy would have to move the luggage around as they would stay in the both the Ronald McDonald House for a time and then, a Hotel. In her own words, “it was exhausting”. Not being able to stay in one place was really difficult but they did it! Things would change on May the 6th of 2019. They had found that wonderful person who would serve as a donor and as a result, they would be admitted to the hospital. Mandy shared what she was feeling as her and Charlie found their way to their hospital room. I’m sharing it with you here, “I still remember walking into A16 and just standing there ... I had a lump in my throat and tears stung my eyes. I was sad for me. I was sad because I didn't have to be alone but I was. Most families ditch jobs, homes, and sometimes everything to have at least one person there to help. I had none, I was alone. I felt so small. I knew my child was going to death's door and I couldn't promise it wouldn't open and take her …. I didn't know if I would ever leave with her. It was real.”
These words were not an indictment against Mandy’s friends or family. They were just not of the means or the ability to accompany her and Mandy had made the decision to have the procedure done out of state. This left her alone to carry everything out after the decision. This was in Charlie’s best interest and Mandy’s actions had become an example of a type of sacrificial love. This is Charlie Grace that we are talking about. Mandy continued, “All that I had fought so hard for. That exact room in that exact city and hospital … I was finally holding my baby in that place and all that I could do was to be sad.” Even with this, Mandy would do what needed to be done. She just put one foot in front of the other each day. Mandy put baby Charlie in the metal hospital crib, covered her daughter and unpacked the luggage. She took great care with each one of Charlie’s outfits, matching each one as she put things away. Mandy shared, “I refolded her matching blankets and I put toys in her crib for her. I set up our little home with hope and lots and lots of prayer.” It hasn’t been that long ago now but even if it had been, Mandy would still remember the date. It was transplant day, May the 24th, of 2019. In everything, the chemo-therapy, the placement of the central line, and the BMT itself, Charlie had and would sail through it all. But not Mandy. The entire experience would be a traumatic one for her. The fear over losing Charlie petrified Mandy. Some might think of this as having been needless worry. It needs to be kept in mind though, some children will not make it through without complications.
Mandy shared, “The fear of her dying any minute consumed me. I suffered mentally so badly that I lost all memory. It was short term memory loss but it was very severe.” Thankfully, Charlie would do very well. She would be monitored in her hospital room to make sure she was stable and had come through the BMT without complication. Once all of this took place, it would be time to move again. Dr. Davies and the social worker handling Charlie’s stay came alone to the room. They informed Mandy that it was time for her and Charlie to move to the Ronald McDonald House. Mandy was not at all ready for this. She stated that she was afraid that she would forget how to take care of Charlie and she dreaded having to move the luggage again. Even with this, Mandy did what needed to be done. She packed and moved. The stay at Ronald McDonald would come and go without any major events taking place and it would be time to go home again. The entire experience had been so trying on Mandy but she did what she felt that she had to. While their lodging had been payed for during the stay in Ohio, there were many other needs. These were met by the caring people that followed this part of their journey on Facebook. Mandy would post about a need and people would act graciously by making the purchase. It would be good to make it home again but it would take Mandy a while to adjust to a normal existence again. Mandy explains, “I hung up lists, set alarms, and I walked through the thick fog I seemed to be in. I was happy, my baby was happy, I just had this thick fog around me.”
Mandy said that she never knew the day or the time for a while but she would make it through. She was on top of giving Charlie her meds and they continued with Charlie’s therapies. Charlie was always the number one priority and Mandy was always there for her daughter. This, even if it took her a while to return to a normal frame of mind. We would all have to walk a mile in Mandy’s shoes to know why she had been so greatly affected. She guessed that it took about a year for things to stabilize. It was time to start living the life of a parent with a child who has special needs. Charlie still had a disease that was fatal but she now had the best opportunity to live as normal of a life as was possible. That was if the engraftment of the BMT was strong and she started to produce the enzyme that her body had been missing. Engraftment takes place when the blood-forming cells that are received at transplant start to grow and make healthy blood cells. There are always challenges that would come, even if everything would have gone well with Charlie’s post procedure engraftment. However, with increasing concern over the months that would follow, Mandy would watch as the percentage of engraftment dropped from 100%. She would actually keep track of the numbers and would find that the engraftment was dropping by about 4% per month. That would be alarming to any parent but the doctors would assure Mandy that things would level out. They also assure her that Charlie Grace did not need 100% engraftment to produce the enzyme that she needed.
A Chance at Life
After all that Mandy had been through, and all that she had done to get to Ohio with Charlie, you could certainly understand how she might feel. Her big concern was that the transplant may need to be repeated at some point in the near future. After all that she had been through to have the first one done, going through it all over again was something that would be painful to even think about. Here is some of what Mandy had to say about what she was thinking, “I kept having visions of times that people mentioned a 2nd transplant but never in reference to Charlie. For example a Nurse told me to ‘be thankful you don't have to do this twice …. there are moms who have done this twice!’ And another Hurler mom told me to just be glad I didn't have to do this twice because she had with her daughter.” Mandy kept hearing comments about a 2nd transplant. Even though this didn’t sit well with her, she wondered what the future would hold for her and Charlie. For a year, she would receive news about the decreasing levels of Charlie’s engraftment. This while wanting the assurance that her body was making the enzyme that she needed. Mandy said that she would grow tired of the entire thing and she quit calling for a while. Then it would dawn on her to ask about the level of the enzyme that Charlie’s body was supposed to be making. Mandy wanted this to be tested. Afterall, this was the purpose of the BMT. Charlie’s body needed to start producing the enzyme that had been missing. The one that was responsible for ridding the cells in her body of the wastes that were instead collecting.
Here is how Mandy put it to me, “So I asked for what made complete sense. I wanted her enzyme level tested. She was born without this enzyme and we transplanted her to make this enzyme .... and even though her engraftment was dropping I was assured she was making enough of this enzyme. So, show me!” The response that she would receive was, “Well, we don't test for enzymes after transplant.” In the notes that Mandy had sent me, she included the word “crickets” at the end of the response that she received. I hope that you won’t mind my divergence from the story but this writer has never heard the word crickets used in this way. I looked it up and this is what I found, “Derived from the cinematic metaphor of chirping crickets at night, signaling (otherwise) complete quiet.” In other words, Mandy was completely bewildered by this, leaving her in complete silence. Other than the crickets of course. I’ll keep the rest of what Mandy had to say between her and myself (humor intended). She would, of course, insist on this testing taking place, to which this would be agreed to. There were no guarantees made however, as this was not something that had been done previously. Mandy would experience a myriad of emotions through all of this, with the most prominent one being anger. In the end, the testing would take place and the result would not be favorable. After learning how to read the results of the testing, Mandy would determine that Charlie’s body was only producing about one percent of the level needed.
That meant that the Hurler Syndrome was almost completely free to continue to wreak havoc on Charlie’s little body. This would include damage to her internal organs and continued cognitive decline. As previously stated, Mandy would watch month after month as the percentage of the engraftment continued to drop. The end result would be about 32% engraftment with Charlie’s body making next to none of the enzyme that was needed. This was nobody’s fault. The first transplant had gone well and there was nothing unusual that took place. This was just the way that things would turn out. Mandy’s fears about Charlie needing a 2nd transplant would become a reality and that is what she would push for. She would approach Dr. Davies who would not be immediately on board with the idea. After all, what if Charlie’s body began to produce the enzyme in higher levels at a later date? How would her tiny body tolerate having a 2nd transplant performed? There were risks involved. Mandy would request that the doctor consult with another physician who specializes in children with MPS1, to which she agreed. Mandy stated that she would receive a call back a day later. The doctor agreed to do a 2nd transplant. Mandy had gotten what she wanted but could not believe that she was about to put her daughter through the process again. Here is the way that she put her feelings to me as she began to question herself, “Omg, here we go again .... here we go, only this time, it's all on me.”
Mandy continued, “I'm the one putting Charlie back at death's door. Is it worth it? Does God not want her engrafted because he wants her to be severe MPS? Because that's the way he made her? Do I put her through this just to make her what I think she should be? There was only one person who could answer these questions and it was God himself. He answered me. He told me he would take care of us again and pave the way and that's exactly what he would do.” Never as a writer do I force my own beliefs or opinions about faith and existence of a personal God on any of the stories that I write. However, these are Mandy’s own words which express her own way of handling what life had brought her way. Mandy felt, deep down inside, that this was the right decision based on what she knew. Her thoughts were continued in another place with the following, “I was terrified and disgusted with myself. I left it scheduled but in my mind I left it open to change my mind. I fell at the feet of Jesus because he knew I would still love Charlie on a ventilator and unable to walk or talk. I would love her even more and I would be happy to have her still. But I knew in my heart she had a real chance at this life. I just knew it.” To some, the decision would simply be what one would call a “no brainer” or a common sense decision. Charlie Grace was still in need of the best possible chance at a near normal existence. The post that had been previously done by Mandy on Facebook would tell all of us the story as things developed.
The first transplant was known to have been ineffective as the year 2020 was moving towards closure. Preparations both mentally and otherwise began to be put in place for Charlie to undergo a 2nd transplant. Mandy stated that she had just followed her mama’s instincts in wanting another transplant performed. She did so even though she was advised otherwise by some in the Hurler community. This was her daughter and she was on a mission to preserve Charlie’s cognitive abilities. She had seen her daughter declining right before her own eyes as Charlie had stopped talking altogether. Others had tried to talk Mandy out of another transplant for Charlie because either way, her condition is terminal. However, Mandy had visualized Charlie enjoying a near normal life, seeing Charlie “older and smart. Playing ball and going to school like other kids.” And still, she realized this would be her last push to do everything possible for her daughter. Whatever the outcome, she would love Charlie and the life that they were given together. She would be at peace, knowing that she had done everything that she could. Mandy looked forward to completing this final step as she used these words, “Now (after completing the 2nd transplant) all I have to do is love her and give her the best life that is full of laughter. It's not that simple but it is. I refuse to be riddled with what ifs. Charlie has MPS1.”
Holding Nothing Back
Again, Mandy continued, “She has Hurler Syndrome and she will be different than healthy kids. But she is Charlie and God gave her to me whole and perfect. Our journey may be difficult and different and unchosen but it's still life. She is alive and we are together. The beauty is unspeakable. These kids are the light. The closest to Jesus that we can become.” Just as it had been before, the way to Cincinnati and Children’s Hospital would be provided for Charlie Grace. Medicaid would again pay for Charlie’s transplant. Again, between the stay at the hospital and also at the Ronald Mcdonald house, their lodging would be free. This time around, Mandy knew the ropes, so to speak and this was familiar territory to her. Again though, she had to quit her job, pack their belongings in storage, and leave their rented dwelling place behind. While there, many Facebook friends would help to provide the needs that they had and the circumstances surrounding the 2nd transplant would be more cut and dry. Mandy would be more confident about the procedure this time, as well as, Charlie’s ability to survive all that she had to go through. Even with all of this in mind, it would still be difficult to watch little Charlie have to endure the process. Our hats off to all of those little cancer warriors out there that have to go through chemo-therapy. Charlie would undergo preliminary testing again and she would receive chemo for the 2nd time in her life. This, even though she wasn’t battling cancer.
There was more enzyme replacement therapy to be done and there was the 2nd BMT. All of this taking place inside of a little person like Charlie. There would be many challenging days ahead for this little person and many days when she just wasn’t at her best. The day of the 2nd transplant was January the 21st of this year (2021). Many were the people praying for and supporting this mamma and darling child. Even with her curls gone, Charlie would continue to warm people's hearts. Perhaps even more so! Charlie is amazingly strong and she would recover, providing smiles and misbehaving at times. A true terrible two and her mom was okay with this. That is even with the challenges that Charlie would provide along the way during her recovery. Mandy’s desire would be a 100% engraftment, however, she will except whatever level of engraftment they receive this time around. In Mandy’s own words, “I will accept it even if she doesn't do so well. I just had to know I did what I could. Now I will work really hard with her and be her advocate in school and medically with her bone surgeries. Our fight isn't over but the biggest part is.” Mandy would tell me that it is almost unheard of for a child to go through two different BMTs without having to go to PICU. She said that one day, Dr. Davies shook her head as she stated that Charlie is as tough as Mandy. In turn, Mandy disagreed but the doctor reminded her that in all of this, Mandy had done everything for Charlie by herself. This almost put Mandy in tears.
We talk about how resilient these children are and it is a fact that they are that. They really are models of resilience but what about the parents? It’s amazing what they often put themselves through for their child. Most often, it takes more than most other parents will see as they raise their kids. Sometimes, it takes more than one might think possible. The saying goes something like this, “You never know how strong you can be until you have no other choice.” This is absolutely true. I have to tell you that as a person, we are really impressed with Mandy at this house. She was a little hesitant to give all of us so much detail concerning her life and how Charlie’s life came to be. This is because she feels that mistakes were made along the way. Well, all I can say to Mandy is join the club that we are all part of. We’ve all made mistakes. The way that she has grown as a person and the strength of character she has shown through all of this is exemplary. When the going gets tough, call Mandy. The way that she models her faith and her humility while also being real is something that both me and my wife took notice of. I mentioned at the beginning that I often joke that we wanted a girl but that we got a Benjamin instead as we were expecting our third child. This is actually true though. We wouldn’t have it any other way now but the fact is that we wanted a girl at the time. Benjamin who is now 31 is the youngest but our oldest son Daniel is just a year younger than Mandy.
Where am I going with this? Simply put, if we were to have had a girl, we would have been proud to have someone like Mandy for our daughter. This is also true. What about Charlie Grace? We love kids with special needs at this house. Also, we are at the age where people are most often grandparents. That will likely not happen for us. Speaking for myself, although my wife would agree, I absolutely love the kids that battle. Charlie is just a little doll baby. She is so full of personality and sass. A definite ray of sunshine. She can speak volumes without saying a word. Charlie Grace will always be the center of attention in whatever place she inhabits for as long as she is on this earth. When I say that these kids are the most special and the most amazing, it’s not just a simple catch phrase. It is the absolute truth and I am talking about kids like Charlie Grace. I look forward to following this little lady through every twist and turn for as long as she continues on her journey. She is just so special! I agree with Mandy. Charlie’s life is not by accident, the two of them were meant to be together. The things that Charlie will teach her mom will go hand in hand with that which Mandy will teach her daughter. Whatever means of help that there will be for Charlie, Mandy will find it! Mandy did a Facebook post as it was time to leave the Ronald McDonald House for the final time and I knew that there would be food for thought inside of it. Here is what she would say at the beginning of the post, “For 2-1/2 years I have fought for two transplants that will enable her to make the enzyme that she was born missing. I guess because I'm a single mom and getting this done was very challenging...”
Mandy continued, “I have been so focused on getting her 100% engrafted with new bone marrow that I could put this truth away. I knew I would have to face the truth about MPS1 eventually.” In other words, this mom has done everything that is possible to help her little girl but the truth remains, Charlie is still in for a battle with MPS1. But there is one other thing. Simply put, Charlie Grace won’t be alone in her fight and there are special times ahead for mom and daughter. Mandy will do everything in her power to give Charlie the best and funnest life possible. Dance class, gymnastics, and softball. Why not think big? She states further down in her post, “Now we go home ... I will love her and teach her all I can. I will urge her to jump in mud puddles with her best dress on. I will not stress over small things. I will embrace and celebrate and love everything about her.” Left with the truth that she cannot completely save her daughter from a disease that is fatal, Mandy has to be satisfied with the fact that she has done everything that is possible. A love that is profound and undying. I often repeat myself in order to place emphasis on the things that are true. Mandy has demonstrated this type of love and that cannot be denied. Yes, there is beauty in this journey. That has been clearly demonstrated and this will continue to be seen. This story has not taken place by accident. It’s on display for all of us to see. That is if we pay attention.
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Highlighting a previous blog that might interest you:
Journey Unexpected - The Rich Family
One child in a family with a rare disease is a challenge. What if there is two? Heartbreak multiplied you pick up the pieces and will yourself to do your very best. A love that is profound and a bond that is stronger than any other is formed. Two little beauties in one family is two, too many but you seek to make a difference! A journey unexpected...