“I couldn’t hear anything else after I heard the word “terminal”. No parent should ever hear that their child is dying! All my hopes and dreams for my little 4 year old were just crushed .... My heart broke in a million pieces that day. I remember running to the bathroom where I fell to my knees and just cried, drowning in my tears.”
Victoria’s Mom and Advocate
There is no way that I can know personally, however, I try my best to understand. The word empathy comes to mind. A true Empath is a highly sensitive individual. These people have an ability to sense what people around them are thinking and feeling. It’s like they are able to feel what others are experiencing. I don’t know that I fit into that category completely. It’s so easy to be self absorbed and to fail to be concerned about others. Yes, I do try my best to understand and this all started to take place after I first became aware. Aware of what you may ask? Well, it happens to be children that battle rare diseases. Children are by nature beautiful. Their little faces are yet unmarked by the worries and concerns that come our way as we travel through life. They look so innocent in their ways, even if a bit mischievous in their actions. Our hearts ache when we know that a child is battling through something that should be reserved for those of us that are aged. Things like dementia should not impact someone that is just starting their young life. Most people pay no attention to something like this unless it impacts their family directly. Most are not even aware when it comes to something like rare and fatal childhood disease. Sure, somewhere in the recesses of their minds is the reality that things like this exist. However, these types of things only have an impact on those that have to deal with them directly. That is unless people take the time to look beyond themselves and their own surroundings. And still, one needs to first, be made aware.
My writing first began when I was made aware concerning a little girl who battled something called Batten disease. Following her life and legacy was an eye opener and it changed my life. The plight of these kids, as well as their parents and siblings, consumes my thinking. There are other subjects that I could write about, but no others can I write about with the same amount of passion. I have shared with people repeatedly concerning my own son who has special needs. For a long time now, I have had a sensitivity towards these special people. This is due to the connection that I feel with Benjamin. When the time was right, and this little girl with Batten came into my life, my world was changed and I began to write. What gets to me is the details. It is so very true that greater awareness towards rare diseases is important and that is part of the reason for the effort that I put forth. However, what really drives me is that I feel that I have this opportunity to tell others concerning the details. That is the details that tell others about the love that is poured out towards these children and the impact that they have on people. Obviously, there is always a certain amount of sacrifice involved in caring for those that can’t care for themselves. The task can bring with it a multitude of frustrations. My own son has taught me much about service and sacrificial love. However, what I see in parents of kids with rare and fatal diseases extends beyond anything that we have been through as a family.
We knew almost right away that we had a special case on our hands when it came to Benjamin. We also knew why that was. Things are different for the parents of a child with a disease that is rare and fatal. In their case, receiving the diagnosis for their child blindsides them. Who would ever consider the fact that something like that could happen? Who would have ever thought that a set of symptoms that had developed were part of something so terrible? The life that was once known, or imagined, is changed forever. All of a sudden, the joy of parenting becomes mixed with grief and heartache. The grieving process begins for someone that is still present and that someone is an innocent child. Loneliness and confusion are part of the initial shock but those things will soon give way. This happens as the family learns, they are not alone. Rather, they are part of a community that they previously knew nothing about. That community is there to lend its support and they become like family to the ones who now share in the experience. It seems like such a whirlwind of events has taken place as the puzzle pieces have worked their way together. That couple that once fell in love is now the parents of a child with a rare set of special needs. Life is different but it is still one that is worth living. Your purpose now, involves helping one that battles. That one is a most special son or daughter. There is now an opportunity to love in a way that was previously unknown.
We are heading towards another story where a transformation of sorts takes place. Grief and despondency ultimately give way to a renewed strength and resolve to do the very best that can be done. This, in order to provide a type of love that is undying. This in turn, creates a bond that is stronger than any other. Things will be seen that are not experienced by most everyone and that is what makes these families so special. Difficulties that are “normal” are expected, but ones that are not become part of a life together in the case of these families. These stories are similar in many respects, although many of the details can be different. It is almost always the case that it all begins as two people meet and fall in love. The attraction is physical in the beginning. As time continues, thoughts of a future together start to enter a couple’s thinking. Sometimes, two people meet and they know right away. The person that they are with was meant specifically for them. Almost always, a life together involves raising a family. This next story is about a young couple from the great state of Florida. They met one another in the normal kind of way, finding each other during the normal course of life events. They would meet at work and would be attracted to each other. Nowhere in their thinking as they did meet, was the possibility that they would one day face a set of rare circumstances together. This would all take place as they became parents and this story is about the little family that they would become.
Jenn Fuller first asked me about doing a story about her daughter near the time that Victoria had been diagnosed with Sanfilippo Syndrome. Sanfilippo is part of a broader group of diseases known as MPS (Mucopolysaccharidosis). Sanfilippo is also known as MPS III. Just like all of the forms of MPS (and Batten disease), Sanfilippo Syndrome is what is known as a lysosomal storage disorder. Without giving a lot of detail here, let’s just briefly explain these disorders. The human body uses enzymes to break down the wastes that are made in cells of a person’s body. This is especially important in the human brain. This process is dealt with in something that is called a lysosome. If one of these important enzymes is missing, the body stores up these wastes instead of breaking them down. This in turn, causes damage to the cells because the wastes remain in the lysosomes. Surprisingly, there are thousands of these types of disorders. Most people would never have knowledge of something like this unless it had impacted their life directly. The lives of the Fuller family have been impacted in a big way by Sanfilippo Syndrome. Jenn thought that participating in my blog about rare kids would be beneficial. It, however, took her a little while before she was in a place where she thought that she could share the details with me. I’m so glad that the time arrived and that I heard back from her. I am grateful that she had kept it in mind to work with me. I appreciate the opportunity to have their family’s story in this blog that is about kids that are rare and so very special. Let’s get started.
Two People Meet
Jenn Moreno grew up in Hollywood, Florida and would eventually attend McArthur High school. Like so many young girls, her desires for her future included marriage and a family. You never know at what time or in what place that you will meet that special someone. Life continues on and when the time is right, things start to fall into place. That person that you are meant to be with crosses your path and your personal story of life and love starts to develop. In Jenn’s case, things would come together quite quickly. This would start to happen for her as she was beginning a new job at a Chili’s restaurant, there in her hometown. The year was 2005 in which Jenn would begin work there at Chili’s. She didn’t know it at the time, but it was during her orientation at work that she would meet the person that was meant for her. It was Jeff Fuller that would perform the orientation on that, her very first day at work. Jenn was immediately attracted to Jeff. In her own words, she thought that he was “cute”. The two of them would do well together, however things were not progressing at the speed that Jenn had desired them to. She would actually be the one that would ask Jeff out on their first date and Jeff, would of course say yes. The rest, as Jenn would say, “is history”. The couple really hit it off from the beginning and would become inseparable. Their relationship would only continue to grow as they thought about a future together. Jenn would tell me that they perhaps did things a little backwards for some people. However, this couple knew that their individual futures involved being together for a lifetime as husband and wife.
That being said, it would be three years after they began to date that they would buy a house together in 2008. Their goal was to save money and fix up their home in preparation for their wedding and having children. They had a plan and they were putting it into action. It took a little while for the big proposal to take place but it would happen. The year was 2012 and the couple was vacationing at a favorite spot in Fort Myers, Florida. They were staying at a beach front hotel and this gave Jeff an opportunity to propose to Jenn in a way that was magical and that would provide a special memory for the both of them. In the sand below their balcony, Jeff wrote, “Will you Marry me?” He then told Jenn that there was something that he wanted her to see outside. Of course once seeing what Jeff had written, Jenn would accept his proposal. After all, marriage and a life together was what they had always had in mind. And so it was that they would become man and wife the following year. They got married on their 8-year anniversary of starting to date each other. The big day was on July the 13th of 2013. When it came to their plans for marriage, Jeff and Jenn had a desire to have a larger wedding and celebration. They would do just that, having many friends and family members in attendance. The day was perfect and they looked forward to everything that would follow in the life that lay ahead for them.
Starting a family would be the next big step for Jeff and Jenn but the couple wouldn’t rush into having children. Instead, they had decided to first enjoy married life for a while. The newlyweds wanted to travel for a bit before it was time to settle down and start a family. They would do just that, going on cruises and road trips while enjoying every minute that they had together. This all afforded them opportunity to fall deeper in love and also, to have more time to discuss their future. Talk about an extended honeymoon, that was the way to do things. More time would pass and then, it was time to think about starting their family. It would be at the beginning of 2015 that Jenn would present the news to Jeff. She was pregnant with their first child and you just know that the two of them were excited that she was. Everything that they had wanted for a life together was falling into place and as expected, things would go well as Jenn carried their first child. The months would pass without complication and the day would come. Jenn would spend a total of 15 hour in labor. It was during this time that some concerns would arise. One was that the couple’s little bundle to be had turned “sunny side up”. The other was that since Jenn’s water had broken 12 hours prior, there was the possibility of infection setting in. Because of this, the doctor decided that an emergency C-section was the way to go. It would be on October the 11th of 2015 that Jenn would be prepped for surgery. Their very first child was born and that child was a girl. Their beautiful baby girl would make her appearance at Joe DiMaggio Children’s Hospital in Hollywood, Florida ... she was oh, so perfect!
This little girl was the most beautiful thing that this set of parents had ever laid eyes on. She had all of her fingers and toes and she was covered in brand new baby skin. Their new little bundle was born a healthy 7 pounds and 4 ounces and she was 19 inches long. Jeff and Jenn named their little girl Victoria Marie. She was flawless and had passed every newborn test that the medical staff had performed. The feelings that this couple had shared at that time was like nothing else that they had ever experienced. Jenn explains, “We were overwhelmed with happiness. When I held her for the first time, everything I was worried about with being a mom went out the window. My heart was so full of love for this tiny little human that had just made me a mommy.” There was nothing, at that time, that would lead anyone to believe that this kind of happiness would continue. This would hold true with each new achievement and milestone that was reached. The future was bright as everything continued to progress in this couple’s life. Whereas the center of each other's attention was their better half, things would now be different. This baby, that was already so beautiful, would now develop into a most beautiful little girl. She would quickly become the princess of the house and she was the center of her parents world. Jeff and Jenn were once free to go wherever they wish but they now had someone else that they were responsible for. Baby seats and strollers, not to mention cribs and Victoria’s first bed, would all be essential equipment.
Life as a Family
Every bit of change that took place brought new experiences that were welcomed with much joy. This is what a life together was supposed to be about. There were outings together as little Victoria took in each and every new experience. Much time would be spent with family and friends and Victoria quickly became a priceless and precious little person to everyone that knew her. In addition, this little girl would only cause her mom and dad to grow closer together in the bond of marriage. Jenn would tell me that when it came to Victoria’s development at the beginning, she stayed “pretty much” right on track. In other words, she was achieving most of her milestones at the time she was expected to. The only concern early on was that Victoria was a little slow with learning how to walk. There is a big variable when it comes to the age that different children begin to walk. Some start walking before 9 months while others don’t take flight until 18 months or older. The average age for independent walking in a child is about 12 months old. Victoria did not begin to walk on her own until 20 months of age. Was Victoria just at the end of the range for when children begin to walk or was there something to be concerned about? It would be difficult, especially as first time parents, to believe anything other than she was just taking her time with developing in this area. Other than this, there was not much else to be concerned about at that time.
There would, however, soon be some medical concerns that would arise. Each one individually, would not necessary be a cause for worry. All were the “normal” type of concerns that might come along in a child’s early health. One thing in addition to the concern over Victoria’s late mobility was that she was getting frequent sinus infections. This was found to be caused by fluid build up in her ears. As a result, Victoria would have her adenoids removed and tubes placed in her ears. This was taking place at the time that Victoria was two and a half years old. She was also having an issue with speech delay and it was felt that this was caused by the issues with her ears. It makes sense that it would create a problem if a child couldn’t hear well at the time he or she was learning to speak. There still was nothing going on with Victoria that seemed overwhelming. She just needed a little extra help. Every child is different and minor health issues often arise. Issues like this can all be worked out in time. This little girl was so loved and the extra effort was just a labor of affection. One reason why Victoria’s health issues could have been a challenge was because it was at this time that the Fullers were expecting their 2nd child. Just as it had been with Victoria, Jenn had carried her next baby without any major complications. It would be one month prior to the delivery of Jeff and Jenn’s next child that Victoria would have her first set of tubes placed in her ears. I can only imagine that this was a very busy time for the Fullers.
Everything that Jeff and Jenn had planned for their future had been thought out and discussed. They had wanted one more child and that hope had become a reality as Jenn gave birth to their 2nd bundle of joy. It would happen in September of 2018 that she would give birth to a baby boy. Jeff and Jenn now had a son and they would name him Nicholas Michael. He would soon be affectionately known as Nicky and just like his big sister had been, Nicky was a beautiful and perfect baby. He had all of his fingers and toes and it only took one look to know that Nicky was going to be an adorable little man. How much more perfect could things be at this time? A beautiful little girl and now a charming little man. Yes, there were a couple of issues with Victoria but it seemed that they were things that could be overcome with time. They were just, in the figurative sense, growing pains. As Jenn would put it to me, their family was now complete and the Fullers were as happy as any couple could be at that time. When it came to Victoria’s feelings about her new little brother, she was overjoyed, She thought that baby Nicky was her own little doll. Sibling love was in full effect. All of the changes and challenges that are associated with having a new baby in the house were present again in the Fuller house. All of these things however, were most welcomed. Usually, it is the case that little babies have to learn to adjust their sleep patterns so that they are like everyone else's. That was to be expected in Nicky’s case.
As things would turn out though, Victoria was having problems sleeping through the night at the time that Nicky was brought home. Was this related to the problems with her ears? Was it related to all of the excitement over the new baby? Time would tell and life would continue on. The speech delay that the family was experiencing with Victoria would require some help. She was given some early intervention with a speech therapist and that seemed to help. The Fullers were seeing some improvement in their daughter’s speech as she was entering pre-kindergarten in January of 2019. Victoria loved going to school. She would sing every morning as she walked there and would say hello to the people that she met along the way. How cute is that? There was no reason to be anything but optimistic about her growth and her future at this time. Such a special little girl and a big part of a special young family. Victoria would do well in her first term of pre-k and Summer break would come and go. As she returned to school in August, it would be noticed that some things were a little different with her behavior. Victoria was all of sudden really hyper and would run away at school. How concerning this had to have been for the school staff. It had to be very concerning for Jenn as the teacher of Victoria’s class had started to voice her concern over Victoria’s regression. All of sudden, the joy over being a family and having baby Nicky in the house was being mixed with some new concerns. What was it that was going on with Victoria?
A Family Challenge
Jenn explains a bit about what her thoughts were after talking with Victoria’s teacher, “As first time parents we often try to list the reasons ‘why’ your child is acting this way. Maybe summer vacation set her back, or she started not sleeping through the night so maybe she’s tired and cranky .... or she’s acting out because there’s a baby at home and she might be jealous.” Was it just that too many changes had taken place over a short period of time and they were overwhelming Victoria? So many questions had to be answered. Could it have been something like true hyper-activity or the early signs of autism? Jenn would tell me that she was losing sleep over what her daughter was going through. She was worried in her “mom gut” as she was seeing the regression. It was slow as it continued but Jenn was able to take notice. Gradually, abilities continued to slip away from Victoria. In the area of her speech, words had disappeared and they continued to do so as Jenn took notice. These two children that the couple had brought into the world were now a huge part of life together. Aside from all that living life entails, Victoria and her little brother were the center of their parents attention. When things aren’t right with one of your kids, that child becomes the subject of a lot of conversation. This as you try to figure out what may be taking place. Jenn shared, “Jeff and I would often talk and think maybe it’s autism… I would see other 4 year olds and think ‘Victoria isn’t doing that’ but you are not supposed to compare, every child develops differently…”.
It was Jeff and Jenn’s hope that Victoria would eventually catch up. I think that still, there was this gut feeling that something out of the ordinary was taking place with Victoria. Every child does develop at their own pace, but there is also a normal range. Sometimes, differences can indicate that there is a bigger problem that needs to be addressed. Jenn said that at this point, she was voicing her concerns and opinions to the pediatrician and Victoria’s teacher. Questions like this were asked, “Will Victoria catch up?” and “Is there something wrong with my daughter?” No one was seeing any red flags of great concern. It was just felt that Victoria was developmentally delayed. As January of 2020 rolled around, something would take place that would shake Jenn’s world. There was something “SERIOUSLY WRONG” with Victoria. Jenn’s own words were that something was wrong with her “BABY”. This being Victoria, her firstborn child and only daughter. Jenn describes what she was seeing that was so alarming, “…. all of a sudden Victoria couldn’t talk, she would stare at us blankly, like she wanted to say something but couldn’t.” This kind of regression would seem to indicate that there was somehow, something very serious happening inside Victoria. There had to be something dramatically wrong going on to cause such a severe regression of skills. All of sudden, this perfect little family story was beginning to include details concerning a serious situation.
Jenn stated that they had felt a sense of panic and had rushed to get in with a neurologist. Who could blame them for taking such a course of action as quickly as possible? Victoria would be seen by a neurologist in early February of 2020 and would be given the label, or initial diagnosis for autism. The doctor stated that the type of regression that the Fullers were seeing was a red flag for the disorder. Although some of the behaviors that the Fullers were seeing in Victoria may have lined up with a diagnosis of autism, she didn’t completely fit the description. For instance, she still maintained good eye contact and she was still very sociable/lovable. Jeff and Jenn accepted the early label but it still didn’t sit right with Jenn. She just had this feeling that there was more to her daughter’s situation than just autism. It would be difficult for the neurologist to be completely sure of this diagnosis and not wanting to take any chances, he would recommend genetic testing. More would take place quickly as an initial appointment with the geneticist would take place on February the 27th. Jenn would tell me that upon looking at sweet Victoria for the first time, the geneticist would come to an initial opinion. He had seen something in Victoria that led him to believe that she had a type of “enzyme disorder”. The doctor would have a blood draw taken from Victoria in order to have genetic testing done. It would be four weeks later that the Fuller’s would receive a call from the medical assistant working with the geneticist.
She stated that the doctor wanted to speak with them as soon as possible. Jenn’s statement concerning that call is telling. She simply said, “... at that moment we knew it was bad news …. just didn’t know how bad.” As all of this was going on, the world was in the process of shutting down because of the COVID-19 pandemic. That meant that the follow-up appointment with genetics would take place by means of a video conference. This would happen on March the 26th of 2020. That was the day that Jeff and Jenn’s world would be rocked and changed forever. They would be told that their beautiful little girl had a condition called Sanfilippo Syndrome. Jeff and Jenn were also told that it was the most severe form of the disease and that Victoria would not live beyond her teen years. The Fuller’s listened with stunned expressions as the doctor gave them the news that would bring them utter dismay. How could the news be any worse? The word terminal is the last thing that Jenn remembers hearing as they listened. All of a sudden, everything that she dreamed about for her daughter’s future was taken away by the reality of their situation. This is a 4 year old girl that we are talking about. Understandably, both parents were crushed. Jenn’s mamma’s heart was completely broken and the tears would flow for days to come. Something such as this had never entered their thinking. How could this be?
Embarking on a Journey
As the news continued to set in it would lead to depression. Who would expect anything different at this point in the Fuller’s journey? All of sudden, everything had changed in the couple’s outlook for their future. Jenn describes what she was feeling after the time that they had returned home, “I couldn’t even look at Victoria without crying. It hurt me so much to watch her laughing and jumping and all I can think about is that this disease is going to take that all away from her. My innocent little child has no idea how much she will suffer and I couldn’t face her sweet face at that moment.” At a time when so many were alarmed over what was taking place on the planet, Jeff and Jenn had something going on that for them, was just crushing. Neither of Victoria’s parents were working at the time because of the pandemic and this gave them the opportunity to just process and grieve. Their grieving was for someone that was still with them. Jenn said that Jeff would grieve differently than she would. He would do so by keeping busy, doing projects around the house. She shared that he pushed through the process and would be the rock that the family needed. They were at that point, and still are, a team in this journey ... balancing each other out in a way that helps them to deal with things. Of course there were times that they would hold each other and just cry in the quiet of the night. There is a processing of emotions for every family that is given this type of a diagnosis for their child.
The darkness that held Jenn in it’s grip lasted for about a month. This was until she discovered that, as a family, they were not alone. It’s amazing the difference it makes when we surround ourselves with people who understand what we are going through. People who have gone through the same trying experience. They are able to share what they have learned and are able to give advice while understanding what is being felt. That is what Jenn would find as she discovered the people that make up the Sanfilippo Syndrome community on Facebook. What a huge pick-me-up this would be for her as she got to know many of the people that share the same experience. Of course, Jenn found Glenn and Cara O’Neil of the Cure Sanfilippo Foundation to be an amazing couple. They were responsible for giving the Fullers a lot of guidance at a critical time. In addition, Jenn would meet a lot of the moms that are fighting the same battle. One mom in particular really stood out and that mom would be Erica McKenzie. Erica and family had already experienced much with her own daughter Reagan being previously diagnosed with Sanfilippo. She was able to help Jenn in a way that the average mom would not be able to and the connection between them was instantaneous. Erica and her husband Kirk had already been involved with a clinical trial for Reagan at the time that these two ladies would meet on-line. Erica was willing and able to answer every single question that Jenn had. As far as Erica was concerned, there were no stupid questions as she understood completely what Jenn was going through.
Just like with the O’Neils of Cure Sanfilippo, the Mckenzies had been in the same situation at one point. Again, one of the biggest things that Erica had provided Jenn was just the knowledge that she was not alone. Of course, there would also be many close family members and friends to give comfort and support following the diagnosis. Jenn does a great job of describing the kindness they received, “Our friends and family did make a point after they received the diagnosis that they wanted to come see Victoria right away and soak her in, and some of our friends cooked us dinner knowing that we weren’t even thinking about food at all. People that I haven’t spoken to in years reached out to us, checked on us and sent us their best. It was well appreciated, the amount of support and love we have from friends and family, near and far.” With the help of so many that showed kindness, and those that would become like extended family, the Fullers would go through a recovery process. It’s not like the grief would completely go away … it’s just that they would begin to cope with things after receiving all of the support that came their way. They received strength from all of those people that came alongside. With this, the realization that this mommy needed to take action set in. With the following, Jenn briefly described what her thinking was at that point, “‘We are on borrowed time now and I can’t stay in bed sad.’ Mommy mode took over and my next steps were … what can I do to help my baby?”
Jenn started to look into possible clinical trials and found that there was one that was taking place in Spain. This would turn out to be another way in which Erica McKenzie was able to be a help to Jenn. The McKenzies had already traveled with their daughter Reagan to have her treated in the same trial. Erica was able to furnish the Fullers with information about the trial and also, who to contact. As things would turn out, the team running the trial would want to test Victoria to see if she would qualify. So even though travel opportunities were limited in the Summer of 2020, Jeff and Jenn would make their way to Spain with Victoria by their side. They had “a glimmer of hope”. Most always, there is no limit for what a family will do to help their child in a situation such as what the Fullers were facing. Before they knew it, Jeff and Jenn were present with Victoria in Spain. Jenn described what it was like for the duration during their stay, “We spent 10 days in Barcelona Spain watching Victoria kick and scream as doctors and nurses poked and prodded my little bug. Every day was a new test, I held back my tears, as watching my baby go through all this at just 4 years old was just so hard to see.” Full of hope, Jeff, Jenn, and Victoria would leave Spain and return to Florida to await the findings of the testing. The results would come back to the family three weeks later and what they would learn was not what they had hoped to hear. Before we continue, let me stop and explain something for those who may not already know.
Need for Transformation
The trial in Spain involved a procedure called gene replacement therapy. In the case of gene replacement, scientists create a working copy of the missing, or nonworking gene. The gene is then placed in something called a vector. A vector is like an envelope that is used to carry the gene to the places that it needs to go within the body. The vector can be created by making changes to a naturally occurring virus. That is what scientists use to allow the gene to travel to the places that it needs to go. The Fullers would receive word back three weeks after their return and it stated that the trial would not work in Victoria case. You see, she was found to carry the antibodies for the virus that was being used for the vector. That means that her body had the ability to fight and neutralize the virus that would be used to carry the gene to the places that it needs to go. How completely disheartening. It would be possible that another vector could be found at a later date but the Fullers could only wait and hope this would happen. This, because there were no other trials that Victoria would qualify for under these circumstances. Jenn described in brief, her disappointment but also speaks of the resolve that she would feel towards their situation, “That was a hard pill to swallow, another gut punch but this time I would force myself to keep going. Wiping my tears away and every day, being there for Victoria and Nicky because no matter what, they are STILL here RIGHT NOW.” Way to go mom! One additional thing that needed to be accomplished along the way was to have little Nicky tested for the presence of Sanfilippo Syndrome.
The good news was that the results would come back negative but the results did show that Nicky is a carrier of the gene. Most all of the stories that I have written about rare families include certain details that are similar. There is always a transformation that takes place. It usually ends with a resolve to do the very best that can be done for the child that is affected. The heartache continues but the will to move on is strengthened with time. This special child needs and deserves every bit of attention that is received. A love that is profound and undying is seen in the details and a bond that could never be broken is formed over time. These families press on because that is what is in the best interest of everyone. You never know how strong you can be until you have no other choice (not my words). Jenn described how Sanfilippo Syndrome has changed their perspective as parents and how their life has changed as a family. What she had to say sounds so familiar to me as their perspective is very similar to what I’ve read while doing many other stories. She started her comments like this, “As a family, Sanfilippo has changed us completely. We now try to enjoy every moment with each other, take lots of pictures and videos, and try very hard to not let our minds wander to the future....” There is so much in these words that could be unpacked. Like the others, Jenn states that there are too many things that are unknowns. They just take each day, one day at a time while not looking too far ahead. Every sweet memory that is formed is captured. Every smile and bit of laughter is enjoyed. Perhaps, we could all learn something here by observation.
The Fullers are joining hands with others in the community that they have found themselves being a part of. They will help to raise funds for potential trials that may help Victoria and the other little warriors. They will also take part in spreading awareness concerning Sanfilippo Syndrome. The biggest mission that they are on is to help Victoria to experience the best quality of life and to experience the most funnest times possible! Jeff and Jenn are both realists that have been through the type of transformation that gets written about often. Jenn explains her current thinking with this, “... at the end of the day, us as parents .... all we want is for our children to be happy. Love is all you need, there is no room for anger or sadness as that just takes away time that we don’t have.” Is Victoria not a beautiful little girl? Yes, she certainly is. In fact, the Fullers are another beautiful young family with a story to tell. These kids are both special and amazing and they cause their families to become one in the same. Now Victoria is, in so many ways, just a normal little girl and a warrior that is unaware. Jenn told me that Victoria loves Elmo and jumping while music is playing (The Fullers use music and singing songs a lot to help Victoria in maintaining her skills). This little girl is full of smiles and energy, just like you would expect her to be. She is both precious and priceless. After seeing a picture of the siblings together, I asked about Victoria’s relationship with her little brother Nicky. It looks like it is a special one. Victoria loves to look on as her little brother plays with his tablet.
I made the statement to Jenn that there must be lots of sibling love in the house. Her stated response was “Mostly, LOL.” Knowing that I needed an explanation, She went on to tell me that Nicky, being just 2 and half years old, does not understand why Victoria likes to give him death hugs all of the time. Poor Nicky. You will one day understand! Telling me this conjurs up images in my mind that are priceless. Many are the pictures that can be seen of this family out together on sunny Florida days. They are enjoying fun times together as they grow in their love for one another. Little Victoria has a lot of life yet to live and who knows what the future may hold. There is a heroic group of research scientists out there that are working on cures like the type that Victoria needs. Who knows, perhaps they are looking for the vector that will work as this is being written. In the meantime, there are many things to be treasured along the way. A lot of love and joy to be experienced as Victoria’s family walks alongside her. I often say things such as, “these kids are the most special, and the most amazing.” I say these kinds of things repetitively because I believe that they are true and I want to place emphasis on them. Their resilient ways and the way that they change people’s lives can be clearly seen if we take notice. That is why they need to be talked about and that is why I take the time to do these stories. All my best to little Victoria and her dear family. Sincerely,
Blogger and Advocate
Concerning kids who battle Batten disease (neuronal ceroid lipofuscinoses or NCLs), “Is it them or is it us? Is it the feelings that they produce in us or is it that there is something truly special about them? I think that the answer has to be all of the above. It is them, but they also do something to us. Once you give a little piece of your heart to these kids and their families, they come close to taking all of it.” That is what happened to me!
Hello Everyone. These kids changed my life to a large degree as I was taken over the plight of one little girl. Through these kids, I have learned that it is important to look beyond ourselves and take notice. I've stated that Kids that battle are the most special and the most amazing and I believe that this is true. They are strong and resilient, even if unaware of the plight that they are involved with. I first became aware of kids that battle Batten disease as I learned of a little girl who fought the disorder. She really caught my attention and I began to write through a series of events …. never looking back. Hidden in between the titles of all of the stories is my own. These kids taught me how much I love to write. I’ll never win an award but the kids that battle taught me that I have a passion for sharing their stories with others. They are stories that are full of heartache and grief. From a distance though, you can observe a love that is profound and undying.
I have now branched out a bit to include some of the families whose lives have been changed by having a child who battles MPS (mucopolysaccharidoses).
The science behind how the cells of the human body work is fascinating. That being said, the result of what takes place when those cells don’t function correctly is devastating. Lysosmal Storage Disorders are my area of focus and these two groups of diseases are both LSDs. Perhaps I will add another lysosomal storage disorder community as time continues. Whatever the case may be, this all started because I was made aware of the plight of one little girl who changed me. I hope that you will take the time to look within. Thanks for doing so.
Blogger and Advocate
HOW THIS BLOG WORKS -
Take the titles listed below and go to month and year listed in the archives below (way below).
January 2017 -
*The Story Between The Lines
February 2017 -
*My Kind Of Royalty - CLN2
March 2017 -
*The Caring Type - CLN2
*Face to face: A Fairy-tale -CLN3
April 2017 -
*No Ordinary Love - CLN2
*A Rare Friendship
May 2017 -
*Tyrell and The Rare Love Story -CLN2
June 2017 -
*Seth and The Healing - CLN2
July 2017 -
*Little John and The Reason - CLN2
*Sands and The Scottish Princess - CLN3
August 2017 -
*A Rare Kind of Devotion -CLN2
*The Giggle Box - CLN2
September 2017 -
*Sweet Montanna and the Status - CLN3
October 2017 -
*The Blog about my Blog
*Sebastian's Story - CLN8
November 2017 -
*Kayden And The Change In Plans - CLN3
December 2017 -
*Those That Are Like Them
January 2018 -
*Nora Skye - I Know Just Where You Are - CLN2
*Brock and The Priceless Memories - CLN8
*Jamesy Boy and The Treatment - CLN2
*The Priceless Princess From Beyond - CLN2
*That Kind of Love - Conner's Story - CLN2
*What I See (She is a Butterfly) - CLN1
*No Longer Alone - Kristiina's Story - CLN2
*Things We've Talked About - Oscar's Story - CLN7
*The Reason Why - Hannah's Story - CLN3
*Kayla's Perfect Princess - Breanna's Story - CLN2
*Warriors Unaware - Mia and Kaleb - CLN2
*Her Little Story - CLN1
*Someone Like Raelynn
*Forever Royal - The Final Version - CLN2
*Awfully Beautiful - The Life of Noah and Laine - CLN2
*A Lifetime of Love - Tegen's Destiny CLN1
*Forever Beautiful - Gabi's Story - CLN7
*The Miracle Baby - Amelia's Story - CLN1
*Dylan's Life - A Small Town Story - CLN2
*Princess Grace and the Challenges - CLN2
*Anything for Tessa - Her Story - CLN2
*Haley Bug's Battle - A Family Story - CLN1
*Journey Unexpected - The Rich Family - CLN2
*My Life, My Everything - Lydia Rose - CLN2
*A Love That Hurts - Shashka's Story - CLN2
*The Things Looked Forward to - Addy’s Story - CLN3
*Love Complicated - Bailey Rae's Story - CLN3
*So Many Questions - Evelyn's Story - CLN2
*The Feelings They Produce - Violet's Story - CLN2
*Because of Love - Frankie's Story - CLN2
*The Need to Breathe - Scarlett's Story - CLN2
*The Beautiful Light of Haidyn Grace - MPS3
*Any Distance Traveled - Reagan's Story - MPS3
*The Missing Someone - Kiernan's Story - MPS3
*The Transformation - Victoria's Story - MPS3
*Not by Accident - The Charlie Grace Story - MPS1
*The Difference They Make - Harvy's Story - MPS6
*Love Profound - Veda Rae's Story - MPS3
Highlights from the beginning. When the blog was named gregster60.com -
Benjamin's Daddy - March and June of 2016 - Revised May 2017, titled Benjamin's Daddy Revised.
My Fearless Adventure - April and May of 2016
A Different Type of Warrior - January 2017
Larry - February 2017