“The EEG and Neurologist visits are all kind of a haze to me. We were in this ‘nobody knows anything’ cycle. Seems we would never get any solid answers, just maybe it’s this, it could be that, etc.”
I am sure that some are tired of me posing the question. Is it them or is it us? I originally asked the question wanting to have a better understanding for myself. When it comes to kids that have a rare disease such as Batten, is it they themselves? Is there something different about them? This, versus a child that is free to develop normally, without being hindered in any way. Is it us in that knowing their plight causes feelings to develop in us that are deeper than any other? I have been the proud parent of a person with special needs for thirty years now but when it comes to kids with rare diseases, there was much more that I desired to know. Going through something like what these families go through. That is something that you have to experience first hand in order to completely know the answer.
Family is so important. This is true for different reasons throughout the aging process. Generations come and go and we are connected to each other in different ways as we travel through time. First being parents and then grandparents. Perhaps we are a favorite aunt or uncle in the family. Being first time parents, or even young parents of more than one child, is an experience that most often makes being together complete. Looking forward to all that life entails and experiencing all the events that will take place, that is what we live for. As men and women, we work to support our families. While what we do outside the home sometimes brings us pleasure, the work that we do is done to support the experience of being together. Looking on as we watch our children grow and achieve each milestone in life brings joy that can only be felt through that experience. If everything goes according to plan, we move from the roll of parent to that of being a grandparent. Grandparents are cool! They are the most funnest people to be around when you are little. Their houses are the best ones and they are the most fun to be at. There are many adventurous things to do at grandpa and grandma’s house. Searching through the closets or swimming in the backyard pool. Maybe there is a basement that you like to go down into or or a huge tree that you enjoy climbing in. No matter what, you hate when it’s time to leave on any given day but you know that you will be back.
Mom and dad are great but your grandparents are the coolest people ever. There is major spoilage that often takes place with them and you love every minute of being there. As grandparents, it’s pure joy to have these little people in your lives. You worked at being the best parents that you could be and now you have been rewarded with having these little people in your life. You don’t mind answering all of the questions that are asked. In fact, you look forward each day to the interaction with your grand-kids. It is so true that it is much better to give than to receive and here is your opportunity. You give and you give. From your time and your resources. Those tiny faces looking up at you is a great source of pride and having little people in your life makes life all the more worth living. Time spent with grand-kids is time that is well spent and the time spent all together is something that is precious to everyone. Being together, different generations sharing in the experience of being a family.
No matter where you are in the generational experience, having children in your life is special. Whether looking at them as they take in all the wonders of the world they are now a part of, or watching with pride as they achieve the things that you had hoped for. This is in large part, what we were put on this planet to do. Being a family. When things go well, we enjoy those things together. It is also true though, when tragedy or difficult circumstances arise, we experience those things together as well. The heartache is shared as feelings are experienced by all. Some are asked to go through things that are not experienced by the many and that puts people in a class that is unique, even if it is something that is not desired. Let’s get right to it. What if that child, and sometimes more than one, is diagnosed with a disease that is rare and also fatal? All at once, that which is experienced together is something that no one could have expected to happen. But then, it does happen! Things begin to unravel and that brings despair to everyone that is involved. This was not expected and your life is all at once, different than what might have been imagined. Despair will eventually give way to determination, even while the heartache remains. One foot is put in front of the other and people press on. Even if only for what is best for that rare child that has been placed in your trust.
Is it them? Is it us? I mean are these rare kids no different from your average child? Is it merely that knowing what they face brings out feelings in us that are like none other? I tell you what, I think that both are true. It is them and it is also what they do in us. They certainly do produce feelings in us that run very deep but watching them and learning how they deal with their own circumstances, that often causes us to be amazed. How they find joy in living even when things are difficult. How they bounce back from setbacks in their health and do so with a smile. They teach things like knowing what is important in life. Can you smile when it becomes difficult to walk or even move? Can you find joy in living when you no longer have your eyesight? The bond that is created under these kinds of circumstances is stronger than most any. Knowing what these kids go through produces feelings in us that are like none other, and knowing that time together may be limited intensifies those feelings. As the disease progresses, so does the heartache. The feelings intensify but you just take everyday, one day at a time.
Some, if not all, would be willing to trade places, just to see their rare child well. It doesn’t seem like anything good can come from this experience and perhaps, that is true. This experience, however, produces a strength of character that can’t be erased and memories that could never be forgotten. They produce a type of love that is profound and undying and these children and their families need to be honored because of all that is experienced. I may frequently repeat the things that I have already stated but I do it for good reason. This next story is about another family that faces a rare set of circumstances. They are not ones that had been expected. They are finding strength in each other through an experience that is shared. They are being strong in something they never would have expected because after all, they have no other choice. There is joy in the midst of the struggle, and they are experiencing that together as well. Let’s begin their story.
Plans Quickly Fade
Sean Bruner and Trista Stephens met for the first time while attending a friend’s wedding. Sean was a guest at the wedding and Trista was the maid of honor. That was on April the 3rd of 2011. The furthest thing from Trista’s mind at the time was that of getting into a serious relationship. This because she had just gotten out of a relationship and had wanted her own space while she considered her future. Events don’t always happen as we plan them and that would be the case for Trista as she met Sean. They saw something in each other during that event and that sparked an interest in one another. They exchanged phone numbers and would eventually talk over the phone about a week later. Trista had left a return voicemail and Sean, being the romantic that is, still has that voicemail. It was in that voicemail that Trista had explained to Sean that she had just gotten out of a long term relationship. She went on to tell him that she wanted to be friends only at that time. To keep things safe, Trista invited Sean to a Birthday party that she would be attending and Sean accepted the invite. They spent time together at that party and Trista’s plans for just remaining friends with Sean quickly faded not long after that.
Trista just couldn’t take her mind off of Sean as she had seen things in him that were genuine and very appealing to her. They seemed to really hit it off together and would soon go on an actual date. That date was at the Island Way Grill in Clearwater, Florida. It would soon become a favorite place for both of them. At that time, the conversation just seemed to flow and the two of them connected in a way that would be lasting. That first date would be the launching pad for a life that would be spent together. Sean said that the conversation between him and Trista was “so easy”. He included the fact that the waiter would have to come to the table a third time before they placed their order. First things first! After that first date, they were together all of the time. It wouldn’t take long for them to realize that this was it for both of them. True love. Trista stated that she had just gotten into an apartment of her own and Sean would spend a lot of time there. The two of them would search for a condominium that they would share as Trista’s lease came due a year later and they would be engaged to be married in July of 2012. This was for real!
Sean was not one to do things half way and so he wanted the engagement to be something that would be remembered. Of course with being in Florida, that would involve the beach. I’ll let Trista describe the event in her own words. Here is what she had to say, “Sean planned a whole surprise at the beach, he had an artist draw a caricature of us, with him on one knee and behind us, were my parents and his sister holding up signs that said ‘will you marry me?’. It was a perfect day!” Both of Trista’s parents, Ron and Lisa Stephen’s were “over the moon” concerning Trista’s engagement to Sean. They had seen in Sean the same kinds of things that Trista had and they knew that he was the one for their daughter. At the time, Ron and Lisa had been married for well over thirty years and Trista was their only child. Trista was a huge part of their world and knowing that their daughter was happy made them happy as well. They both had to believe that things were coming together for them as a family as they looked forward to the big day. The happy couple would be joined together in marriage on April the 6th of 2013 and the event would include a special celebration after they exchanged their vows.
Both Sean and Trista had come from marriages that did not last but there were never children involved. Having kids together is something that they wanted to experience in their marriage. It wouldn’t take long to experience being first time parents as that would follow in the not too distant future. They left for their honeymoon the day after the marriage celebration and Trista would become pregnant right away. However, that first pregnancy ended in a miscarriage. It would be immediately after that in which Trista would become pregnant again. This time, the pregnancy would progress normally as all would go well! Their family was getting ready to grow in number by one and that is a big event for any couple. It was in the course of this pregnancy that Sean and Trista decided that owning their own home was the thing to do. Their life together was growing beyond their rented condominium. Their first house became a reality in December of 2013 and they didn’t waste any time in getting it ready for the new baby. This included renovating the nursery prior to the delivery of their new bundle. Trista would tell me that as all of this was taking place, she would become VERY pregnant. That means that it was time. She would deliver a baby boy to this family. They had a son and they would name him Colten.
Mister Colten was a big baby, weighing in at nine pounds. He made his appearance on February the 7th, in 2014. Colten was a perfect little man. He had all of his fingers and toes and he came complete to the showroom floor having that brand new baby smell. His parents were so happy. Especially Trista as she had to work extremely hard to deliver Colten. Her labor lasted 16 hours and she was pushing for three hours of that time. Trista explained the long delivery time in the following way, “No wonder he took so long! My doctor had assured me that with my body type, there was no way I would have over a 7 ½ lb baby. She was very wrong!” To say that Trista was overjoyed to be done with it would be an understatement and you just know that big Sean had to be elated. He was the very proud father of a son and that left him beaming from the inside to the out. Both sides of the family would be so happy for Sean and Trista but it happened to be Trista’s mom that would soon hold little Colten. There were pleasant thoughts of having grandkids and those dreams had become a reality. Trista’s mom, Lisa, describe the experience of holding Colten and the bond that would take place in the following way, “I never knew I would love another human being so much until Colten was born and minutes after he was born I held him and the bond was formed.”
Life was, all at once, changed from being good to being great. Here was this couple that had each found the love of their life and they had family by their sides to enjoy it with. Now there was a little man for all to enjoy as they watched him grow and develop. Colten’s delivery had been a difficult one, given his size but when it came to his little man disposition, he was a great baby. The months would come and go and the joy would continue as they watched Colten grow. The entire experience was just as it should be. Their little man would sleep through the night early on and he would reach all of his milestones, just as one might expect. Colten even started to talk at an early time in his development and he would say the cutest things. The time spent with Colten and his mom and dad was time that was cherished by Ron and Lisa. As Colten’s first birthday was approaching, the happy couple decided that it was time to start trying to get pregnant again. Trista felt that with Colten being such a good baby, they would want to duplicate the experience if they could. Not only that but Sean had felt that they would want their children close together. Sean and his sister Michelle had been born close together and were, in fact, close to each other in their relationship as siblings.
The Family Bond
Colten was loved by his grandparents on both sides of the family but due to distance and circumstance, Trista’s parents would become especially involved. The bond that would develop, even between Sean and the Stephens would become very close. All of us who are parents learn that there are things that take us by surprise as time goes along. Part of being involved as moms and dads is dealing with the unexpected. Sometimes things can occur that are more than we can bear on our own and it’s nice to have help when this happens. As a family, no one could have known what the circumstance surrounding Sean and Trista’s next child would involve. Ron and Lisa’s support for this young family would prove, very soon, to be invaluable and very much welcomed. As Colten’s first birthday arrived, Trista was well into her pregnancy with the second child. This little family was really taking shape and both Sean and Trista were excited with the fact that their family was growing. Trista’s next pregnancy was a mixture of difficulty and ease. Unlike her pregnancy with Colten, Trista had a big struggle with morning sickness. This lasted 22 weeks into the pregnancy and Trista thought that it would never end. During the pregnancy Sean and Trista would learn that they were going to have a girl and they were “over the moon” concerning the news. How wonderful it would be to have two children, both a boy and a girl. They would be close in age and that would duplicate what Sean had experienced growing up with his own sister Michelle.
Aside from the terrible morning sickness that Trista had experienced, her pregnancy progressed well and the time would soon come for their baby girl to make her entrance into this world. Trista’s doctor decided to approach the baby’s delivery with caution because of Colten’s size as a newborn. It was feared that the same type of difficult delivery might take place if her 2nd baby was as big as Colten was. The doctor wanted to induce Trista’s labor at 39 weeks to help ease the delivery of the baby. It was on September the 5th of 2015 that they would check into Saint Joseph’s Women’s Hospital in Tampa. Whereas Colten was a very difficult and tiring delivery, Sean and Trista’s baby girl would make her entrance into this world with ease. They had arrived at the hospital in the morning and by lunch time, their new baby had made her presence a reality. It only took three pushes and their bundle was here weighing in at a petite seven pounds and one ounce. They named their new little princess Tessa! Just like Colten had been at his delivery, Tessa was perfect in appearance. She was perfect and at the same, perfectly beautiful. Her little nose was tiny and adorable and she had the most beautiful blue eyes. Sean and Trista looked at their new daughter and thought to themselves that their family was then complete! Trista explains their reaction to seeing Tessa for the first time in this way, “When they put her in my arms she immediately stopped crying. She was so calm. I cried with Sean and my mom over how absolutely beautiful and perfect she was.” In fact, she was beautiful and yes, so perfect in every way. All at once, this brand new baby girl was the object of everyone's adoration.
Being Colten’s grandmother had made Lisa's life feel so complete, however, seeing baby Tessa for the first time brought things to a new level for her. The love that she had felt for baby Colten was now multiplied by two as she held Tessa. She described what being a grandmother of two meant to her as she held her granddaughter for the first time, “I held her minutes after she was born and the bond was formed. A bond so strong nothing can break it. My love for these children runs deep. They are my world.” The bond that would grow with these two children would only serve to increase the bond that everyone felt towards one another. Activities done as a family now involved these two children and it brought fullness to what everyone would experience. Tessa would grow and develop in the way that one would expect over the first year of her life. There was nothing that one would consider to be a red flag even though everyone did see some differences in Tessa as compared to Colten. One thing was that she didn’t sleep well like her brother did early on but as Trista noted, some babies sleep better than others.
Tessa reached many of her early milestones, just as one would expect. She crawled and sat up right on time and would begin to take flight just before her first birthday. Tessa was always happy and smiling and she brought so much joy to her family. So many of her baby pictures included a little smile and that made everyone else smile. One thing about Tessa was the fact that she was always into things once she started to walk. She seemed to be on the adventurous side while Colten had been reserved and well behaved early on. He would never, for instance, touch things on the shelves while Tessa would grab everything in sight. Her level of physical activity was very high as well from very early on. Trista explained with this, “She would climb everything she could. I always had to have an eye on her or she would be at the top of the book shelf! We always said she’s our crazy girl. She had endless energy and has always loved being outside. Her favorite thing to do is go down the slide. If I gave her the option, she’d stay outside all day long.” Did the family just have a busy little person on their hands? Was Tessa someone who might be termed as a “doer” as she got older? Would she be one that you could count on to get things done? Whatever the case may be, this family had someone who was very special on their hands. Sean, knowing this, had the following to say about his daughter, “Tessa was definitely our wild child. I always said she was either going to rule the world or burn it to the ground. Zero Fear. First to climb to the top of anything or leap off of it.” Was Sean up to the challenges faced with Tessa? He loved his little girl a whole bunch and he would give it everything that he had. Life was good, although everyone was getting busier by the day.
There are a lot of children that develop, perhaps a little more slowly in certain areas. A child’s speech is one area where differences may exist although there are certain expectations that one would have for any child. One of the concerns that Trista had about Tessa was that she might have a delay in her speech. She of course based this feeling on the things that she was observing in Tessa. Again, she had Colten’s development to use as a basis for comparison. Trista noticed right away that Tessa was unable to mimic certain sounds that were considered to be the basics. Here are the examples that she gave, “I would say ‘the cow says moo, can you say moo’ and she would say ba. Things like that were when I started to get concerned. She also was only saying dada at 18 months old and no mama yet.” Was this attributed just to a speech delay or was there something more involved taking place with Tessa? Sean and Trista would have Tessa’s speech assessed because of their concerns, however, they would be unable to get her into any type of program. This, because she was seen to be intelligent in all other areas. The issues with Tessa’s speech would continue to be a concern and this would be a cause to have her re-evaluated at the age of two. It was at that time that Tessa was seen as having an issue that needed attention.
This would result in her gaining entrance into a program named Early Steps. This program was designed to help in the area of speech therapy and it did have a positive result in regards to Tessa’s speaking skills. The following is what Trista shared concerning the early results of the therapy, “Speech therapy did help. She finally started saying mama, she was saying bubba (what she calls her brother). She finally said yah you, her version of love you.” This was encouraging to Trista and the family but they would soon receive a bit of news concerning Tessa that was very disheartening. This took place as Tessa was approaching three years of age. It was at that time that Tessa’s speech therapist diagnosed her with apraxia of speech. This is a failure in the coordination that takes place between the brain and muscles that control a child’s ability to speak. Needles to say, Sean and Trista were devastated by this diagnosis. Trista cried, wondering if her little girl would ever go on to have a conversation with her mom? This was the thought that ran through Trista’s mind at the time. She recalled words that she had spoken to Tessa in one instance while hoping that things would improve, “One thing that sticks out in my head is laying in bed with her one night at about that age and I told her, ‘I know you will start talking one day. You will just be able to get all of your words out and you will never stop talking after that’”.
Things to Overcome
One would hope that this would come true and that Tessa would overcome the issues with her speech. There however, would be much more to come. There is a host of issues that can affect a child along the way. Many parents will face circumstances with their children that will have to be dealt with and there will be things that a child must overcome as they grow. Some will have issues that are greater in complexity. I have said it before but I will repeat it here, a child’s life should be filled with laughter and innocent fun as life’s lessons are learned. It is true though that troubles often come that one would never expect to happen. It was apparent that the Bruner family had a special situation with Tessa. Her speech therapist, whose name is Aleisha, would continue to work with her and she would notice something in Tessa that would increase her level of concern. From what she was seeing, she felt that Tessa was having issues with her fine motor skills. Aleisha, who is a valued friend and Tessa’s speech therapist to this day, recommended that Sean and Trista look into occupational therapy for their daughter. They, of course, followed through but still, they were optimistic. Trista would tell me that, at this point, she never expected anything beyond these issues to be a problem.
It would be in December of 2018 that Sean and Trista had made the decision to sell their existing house in order to purchase one with a little more space. Things would move a more quickly than they had anticipated as their home would sell before buying the next one. Of course, they would need a place to live and that meant moving in with Trista’s parents. This wasn’t a bad thing at all. It gave everyone more bonding time and Ron and Lisa would certainly enjoy having the grandkids with them. In fact, Ron, who the kids referred to as their “Pop”, would take naps with Tessa. This would certainly provide more opportunity for that but it was because of this that more would begin to be revealed about Tessa. Ron had been seeing what was termed as weird behaviors during nap time and this would start to raise further concerns. It was noticed by Pop that Tessa would suddenly sit up and she would start with these movements. His concern was that perhaps, Tessa was having seizures during these events. Trista shared with me what her thoughts were as she heard this from her father, “When he said seizure, I thought no way dad! It can’t be a seizure. I have never seen anything like that from her before.” Even though in disbelief, Trista very wisely decided to get in contact with a pediatric neurologist. The doctor would waste no time in ordering the testing that was required to evaluate Tessa’s situation. Both an MRI and an EEG would be ordered for Tessa. So many different things had taken place with this little girl already and it just seemed that the problems were beginning to mount, one thing on top of the other. This family was on a journey with Tessa, even though they were unaware of exactly what was taking place at this time.
Trista explained that the initial EEG did not show any evidence of seizure activity. With this, the neurologist was hesitant to give Tessa a diagnosis and he did not yet want to put her on medication. The results of the MRI came back after the EEG was performed and with that, the doctor and staff wanted to discuss the results with the family. I will use Trista’s own words here to explain what they had found in the MRI and also, Trista’s reaction, “They said that there were some issues in the front of her brain with white matter and they said it’s something that most likely happened in utero and that her brain did not develop properly. I was sobbing in their office.” Things had seemed so perfect. A man and a woman meet and true love is found. Together, as a family, the experience of having children is enjoyed and the perfect size of a family is formed. A boy and a girl! All of a sudden, over a short period of time, things had changed and there was a big problem going on with their princess. Trista said that the doctor could not give her an answer as to what all of this meant to Tessa’s future and whether or not she would ever be “normal”.
Tessa’s condition, whatever was taking place, would gradually become worse after that. This sweet princess was falling all of the time and she would run into things. Everyone, including the staff at her school, was becoming increasingly concerned about her. Her safety was at risk and the teachers were concerned about her clumsiness. With the news from the school concerning Tessa’s frequent falls, Trista took Tessa back to the neurologist for an emergency appointment. This could not be ignored! It was decided that a 24-hour EEG be performed and a medication would be prescribed. They were hesitant to put Tessa on medication because they had yet to see evidence of seizures, however, they would end up putting her on a low dose of Keppra as a precaution. This, because of the abnormalities that they had observed in Tessa’s brain. All of this was taking place while Sean and Trista were in the process of purchasing a new home. Can you imagine that? Life never stops, although you wish that it would slow down during times like this!
It was just a little over a year ago, on April the 20th, that a major event would take place. The Bruner family had just moved into their new house and was returning from taking the kids on a walk to a lake that was in their neighborhood. Trista had just put Tessa at the table for a snack when something terrible would happen. Tessa started to fall sideways and Trista asked her if she was okay. Tessa then smiled at her mom but then, a large amount of drool started coming from her mouth. The poor thing then fell forward and hit her head on the table before Trista could get to her. Trista yelled for Sean, in fear that Tessas was choking. Right away, they got Tessa out of her chair and started sweeping her mouth for food as they checked her breathing. Trista stated that Sean then laid her on the floor as she was unresponsive. Sean breathed into Tessa’s mouth. She looked up at her daddy and smiled at him but then she started to convulse. One of the most terrifying things that a parent can witness is watching their child have a grand-mal seizure and this is what they were seeing. The entire thing lasted an entire seven minutes. I know, this is one of the most helpless feelings that can be felt by a mom and a dad. This is something that neither Sean or Trista had ever seen before, and you know what? It doesn’t matter whether you are male or female, dad or mom. It truly is a very frightening experience. Sean described what he went through that day and it should tell us all much about the man and father that he is. Here is what he had to say, “The first big seizure was the scariest day of my life. I remember holding her head and just kept talking to her. Her eyes rolling back and jerking, foaming from the mouth. I truly thought my daughter was going to die in my hands. After the paramedics came, Trista and Lisa went to the Hospital. I stayed behind until Ron was able to come watch Colten. Once I got to the Hospital and was in the room, it all hit me at once. I Had a pretty hard cry.” I’m right there with you Sean, if only in spirit!
Feelings of panic are normal during a time like this, however Trista was able to call 911. The operator felt that they were, in fact, witnessing a seizure and she dispatched paramedics to Sean and Trista’s house. The paramedics had arrived as Tessa was coming out of the seizure and they wanted to transport her to the emergency room at the hospital for evaluation. The ER doctors examined Tessa and would end up giving her a diagnosis of generalized epilepsy. They increased the level of Keppra that Tessa would take but that was it. Trista stated that the increased level of medication did not improve the situation as Tessa’s condition only worsened. Tessa was no longer having grand-mal seizures but the Bruners would soon realize, all of Tessa’s falls and her clumsiness could be attributed to seizure activity. Drop seizures or atonic seizures were suspected to be the culprit. What a person will experience while dealing with doctors can be varied at times. Most of the time, doctors are right on top of things and they know just what to do. Other times, the experience can lead to frustration, all the while suffering through the anxiety of dealing with a loved one that needs the very best attention. Tessa’s neurologist would go on to order a 48-hour EEG but that is not what would get the ball rolling in the Bruner’s quest to gain answers. It was during an appointment that the doctor had just mentioned a free genetic panel of tests that was being offered by a company name Invitae. The test was available for finding disorders that are genetically related to epilepsy. To this, Trista said yes, she was interested, and she asked the staff to do the testing.
Searching for Answers
The doctor decided to draw a sample for the test using saliva with the result ending in a failed test after the sample was sent. They needed a new sample and saliva would be used once again. It was during this time that they were giving Tessa juice to drink in order to produce more saliva and this would cause Trista to question their methods. She felt that giving Tessa juice could corrupt the sample, causing it to fail again. They assured her that this would be okay as long as they waited five minutes before taking the sample. The result of the test, once the sample was sent a 2nd time, was that the testing again resulted in failure. Trista never heard back from the doctor’s office but she would receive a call directly from Invitae. They were not having any success in contacting the neurologist office and that is why they contacted Trista. The representative of the company asked her if she would rather have a blood draw done to make things easier. To this, Trista quickly said yes. This experience would result in Trista’s not being too happy with Tessa’s current neurologist. She stated that they had never been readily available and they had no real answers as to why Tessa was getting worse.
Trista would go on a search for a new doctor as a result and she would find a neurologist that was in a smaller practice. The hope was that Tessa would get greater attention and that the answers would be found. This doctor would examine Tessa and would wind up ordering testing only for Angelman Syndrome and also for Rett Syndrome. In the meantime, Invitae had been running tests on an entire panel of things that are related to epilepsy. So out there in two different laboratories were two different sets of tests that were being performed and they would make their way back to the neurologists office. Trista had requested that Invitae send their results to the new neurologist office. All of this would lead up to what Trista would refer to as “the day our lives changed forever”. This happened on July the 17th of 2019, a day in which Tessa had a neurology appointment. I will let Trista tell you how the appointment went in her own words, “We knew that both genetic tests were back in, finally. Invitae had sent their results to the new doctor as well and they had informed us of that. We went in scared but hopeful to have answers, finally. We sat down with the doctor and he first went over his test results which cleared Tessa of Angelman Syndrome and Rett Syndrome. He was going to end the appointment after sharing that news. But then I said to him, I was notified you also had the results back from Invitae. He looked through his folder and sure enough they were there. He started reviewing them while we sat there waiting. We had no copy of our own to review at this point. He told us that the test had shown several different things but that genetic testing is so crazy these days every little issue shows. But in his mind these were all inconclusive results and nothing of concern. He said Tessa just has epilepsy and once we get a handle on it, she will be much better. We just need to figure out the right meds for her.”
I find this confusing. What was the doctor thinking by not considering the findings of the panel of tests that were performed by Invitae? What was his reasoning? Whatever the case may be, Sean and Trista left his office with a copy of the test findings in their hands. Trista said that she left the office with a sense of relief, knowing that her baby girl was going to be okay. Once they got out to the car, Sean started looking at the reports and much to his dismay, he saw something that was puzzling and of great concern. Trista begins by quoting her husband as he looked over the findings from Invitae, “‘I’m confused by this first part. I feel sick reading this. It says Batten Disease, CLN2, positive. Why does it say positive when the doctor just said inconclusive?’ I told Sean to calm down and it’s probably fine. Why would the doctor tell us not to be concerned if there was a problem? But my whole drive home I was dwelling on it and feeling just sick over it. When I got home I ended up calling Invitae myself.” As Trista did so, they transferred her to a genetic counselor and that individual was also confused as to why the doctor had told them what he did. The counselor told Trista that their little girl did, in fact, test positive. Tessa had two genetic mutations for CLN2. The results of the test would include a statement that says that children with CLN2 do not normally live beyond the age of 12 years old. What is it like to be a mom and to be given this kind of news? Trista said that she started sobbing upon reading this. She could not believe that this was happening. It was all a very surreal experience.
Trista explains, “To go from this feeling of relief after the doctor straight down to devastation is something I can’t even describe in words. I immediately called Sean and I remember just saying to him ‘Our little girl is going to die’”. For Sean’s part, he had left work for that appointment and had gone back to finish his obligations for the day. In the back of his mind was what had transpired previous to his return. Here is how he put things to me, “We had left the Neurologist feeling better, as we thought we just had Epilepsy to battle. Except for that paragraph about CLN2. I couldn’t stop thinking about it. I went back to work as I had left to meet up for the appointment. I was in a home owners house (I work as a warranty rep for David Weekley Homes) when Trista called me. I quickly excused myself and ran to my truck and balled my eyes out. Just wanted to get home and hold everyone in my arms.” As men, we should instinctively choose to hold the women that are placed in our lives in a position of honor. Tessa was Sean’s little princess and he had just received the worst possible news that a father could. Trista’s next action was to break the news to her mom and dad. This took everyone by surprise and Trista explains with this, “I called my parents next and told them. We were all just in absolute shock. We had never heard of Batten disease. Not once did this show up in my google searches over the months when I tried to find out what Tessa might be suffering with.” The shock that Ron and Lisa felt was equal to that felt by Sean and Trista. As a family, they were incredibly close. Sean’s family, both local and out of state would also be very concerned upon hearing the news.
Those closest in proximity to Sean and Tessa would be by their side as their journey continued. There were none closer than Ron and Lisa and they would be there constantly to provide support. Here is some of what Lisa had to say concerning the time in which they first learn of Tessa’s diagnosis, “Our world as we knew it changed in an instant … We had never heard of Batten disease. Then we heard the word no one ever wants to hear, FATAL. I thought I would never be able to breath again. I thought, where am I going to get the strength to go on.” That first night at home was understandably, very difficult. It was just too much to digest. This little person that was so perfect in appearance had a disease that was fatal. Things that were first of concern, had now become something that is tragic. Trista described that first night in this way. “That night I just laid in bed wide awake crying. Tessa came to our room in the middle of the night like she always did and I just laid next to her trying to imagine what our future will hold.”
Renewal Of Strength
The myriad of feelings that one goes through when given a diagnosis such as Batten disease does not go away quickly. There is heartbreak that is intense. A parent starts to grieve over the child that they still have with them. Most often though, a process takes place in which there is a renewal of strength and determination. Hope for future clinical trials is something to cling to. These days, a parent that is given the diagnosis of the CLN2 variant of Batten disease will receive the news concerning a treatment that is available. Enzyme Replacement Therapy is available in regions across America, as well as in other countries. The Bruners would find out that they had hope for a treatment and this news would come very quickly. This happened as Trista researched the disease that she had just learned of. That would be very significant to Tessa’s battle with Batten. Trista would learn that this treatment was available through a company named Biomarin and without waiting, she filled out a form that was available to gain entrance into the program. Time is of the essence for getting a child started with this program and it would be the very next day that Trista would receive a call from Biomarin’s Nurse Consultant. This person made it possible for little Tessa to gain quick access to the treatment. Very soon, the surgery to implant a port into Tessa head for receiving the treatment would be set up. A doctor, who we will just call Emily, from Nationwide Children’s Hospital in Columbus, Ohio would be instrumental in having the surgery set up quickly. Within the matter of two weeks, they would be on their way to having the surgery done.
This meant that Trista, Lisa, and little Tessa would have to leave the others behind as they left Florida so that the surgery and initial treatments could take place in Ohio. This was difficult for Sean and Colten, as well as Ron, to be separated from the ones that they love. Especially under these circumstances. There were some tear filled nights for everyone. That is to say the least. All of this had to be explained to young Colten. He had been present while all of this had taken place with his little sister and now, they were absent. Sean and Trista tried to explain the situation to Colten and he would be a little champion about things, even though this was so hard for everyone. There were so many unknowns, such as when they would return. Everyone has to put on a brave face and do what was in the best interest of Tessa. She is so special and was so worth whatever cost might be incurred. Both financial and otherwise. Lisa’s sister lived in Northern Kentucky, just two hours away from Columbus in Ohio. Lisa and Trista decided that it would be good to stay with family as all of this was taking place, so Kentucky would be their initial destination. It would be from there that they would make their way to Nationwide Children’s in Columbus for the surgery. Successful surgery to implant the port would take place and it couldn’t have come soon enough. Trista explains, “On August 6th 2019 Tessa had brain surgery to place the port for her infusions. It went well and she recovered quickly. But throughout this time her seizures had picked up significantly. There were days where she wouldn’t even try to walk because she knew she’d fall down again from seizures.” What could be more challenging to have happen as a parent? Sean wouldn’t have missed the surgery for anything and had flown up to be present at that time.
Tessa would have her first treatment performed on August the 21st of 2019 and the second one would take place on September the 4th. The hard work done by the representative from Biomarin would prove to be invaluable as Tessa’s next treatment would take place in their home state of Florida. She had made it possible for the staff at a facility in Orlando to get trained and proficient with administering the treatment. The staff at Biomarin is wonderful and caring, to say the least. This is not even to mention the professionals that work hands on with these children. All three of the ladies were able to return home within six weeks of leaving. What a whirlwind of events this all had to be. Sean explained his gratitude towards everyone at Biomarin and the experience of missing his girls with this, “Everyone involved at BioMarin were amazing. We went from zero hope to learning of an actual treatment for CLN2. While we knew it wasn't a cure, there was something. Before we knew it, the girls were all heading to Columbus while Colten and I stayed behind. It was pretty hard but thanks to technology we were constantly talking and Facetiming. Colten and I hit our groove for sure. He surprised me how well he handled everything. We definitely had many cries together when we were sad and missed the girls.” Both Sean and Trista do not know what they would do without the support of Ron and Lisa. Sean and Trista have continued to work while all of this has been taking place and that would otherwise not be possible without Lisa’s help.
At this time, Tessa has now received over twenty infusions. Her seizures have stabilized although she is still having one to two per week. Together, Trista, Lisa, and Tessa make the trek to Orlando every two weeks for the infusions. It takes them about an hour and a half one way to get there. They have a routine which includes bringing Tessa’s favorite pillow and blanket, plus, they bring their own food from home. Tessa loves playing on her tablet during her travels to Orlando. The family has adjusted Tessa’s medications in order to calm her while they access her port. Their little warrior seems to be very shaky after each infusion and she runs a slight fever afterwards but she always bounces back. Like the others that battle Batten, little Tessa is the model of a resilient warrior. Batten has it’s predictive stages of progression but every child is different in some way. For Tessa’s family, the rapid loss of her eyesight has been a big source of heartache. Who couldn’t understand this? What would it be like to be a child and to have this happen to you? Signs of her vision loss first started to show up at two years of age. This as she would hold books very close. They would fit Tessa with glasses but that seemed to just make things worse. Poor Tessa would run into things and it has been so hard to watch it all happen while having no control over the situation. Tessa has been a warrior through all of it! There was testing performed in March to see how bad her eyesight had become. The doctor would report that Tessa cannot see anything in her direct line of vision. She can only see things peripherally. Everything is blurry to her.
Trista describes her reaction to being told that her princess is now legally blind, “I knew her vision had declined, I could see it myself, but hearing that my 4 year old is legally blind was another devastating blow. I remember as her vision got worse she would rub her eyes constantly and tell me ‘mommy eye boo boo’. I would just sit there and cry. It was harder for me to know that she noticed the change. And so hard to know I could not save her from all of this. If I could give her my eyes I would, without hesitation.” And still, Tessa has remained cheerful and the love of everyone that is around her. Her presence lights up any room in which she is present. Can you see how that would be the case? Lisa describes her granddaughter in a very special way, “Tessa is a very loving child. She loves to give hugs and kisses and she tells us all the time I love you. It doesn't come out quite like that but we know what she is saying. She absolutely adores her Pop. Since she has lost her vision we do what we call ‘roll call’ when you walk in the room. She always wants to know who is there. Her smile is like sunshine and her laugh will make you laugh. Tessa is a trooper even though she has lost her vision.” You get the idea, Tessa is a very special warrior princess! She loves to play outside. Swimming and going down the slide are her favorite things to do. When it comes to kids that battle Batten disease ... Is it us, or is it them? I think that Tessa’s life is a testament to the fact that it is them. These kids can steal your heart, never to give it back. It happened to me!
A Special Kind of Love
Sean and Trista both have a special kind of love for Tessa. Always in the back of their minds are thoughts of what the future holds for their princess. She has her challenges with the infusions and, of course, there is the vision loss. All in all, Tessa continues to thrive on ERT and the hope is that Gene Replacement will soon be available in the form of a clinical trial. Would that not be wonderful if the hope for a cure would be realized very soon? There is no way that Tessa could be replaced in this family, even so, something would take place with Trista that would soon change the dynamic of her little family. Her and Sean talked about it over the phone in the time that Trista was waiting in Kentucky for Tessa’s port placement surgery. Trista explains, “I just had this overwhelming need to try for another baby. Sean was not agreeable in the beginning.” After months of talking things over and also talking with members of other Batten families, they decided that they would give it a try. Here is what Sean said about his part in the decision making process, “I was definitely apprehensive at first when Trista said she wanted to have another little one. I did feel guilty and felt like we would be replacing her (Tessa). I am extremely thankful that Trista let me go through my own process with dealing.” I think that any father that loves his daughter as much as Sean loves Tessa would have the same apprehension about such a thing. I am happy to tell everyone who does not already know, Trista is expecting a new baby girl. A sister for Tessa! She is due to deliver the new baby bundle on the 18th of August.
This little one has been cleared of having Batten disease and everyone is very excited. Trista says as much with this, “I can’t wait to see Tessa become a big sister. I know she doesn’t quite understand it when I tell her a new baby is coming. But once the baby is here, Tessa will give her endless hugs and kisses.” That’s the way Tessa rolls. Trista says that she has the biggest heart and gives so much love to those that are close to her. She counts every day that she has with her Tessa to be a true blessing. To watch a four year old experience the things that Tessa has been through is heart-wrenching. She is an adorable little girl and knowing what she has endured just melts you inside. Her smile, I mean it is still there in abundance and she finds the joy in living regardless of what she has been through. These rare kids are the most special, and they are the most amazing. It is them! Both Sean and Trista will tell you that life as they know it would not be possible without Trista’s parents in their life. This is a family that functions just as one would hope that it would. Yes, they struggle a bit with the realization of what they are dealing with but they are dealing with life as it is, together. There is no doubt that going through this rare set of circumstances has made them stronger in their bond with one another. There is so much to deal with as a Batten family and that is why I hold all who battle Batten in a very high regard. My feelings run deep. These families are special and especially these kids.
Those that love one of these children would do anything in their power to make their young life as wonderful as it can be. Here is what Lisa says about that fact, “I never knew I was going to have to know more medical terms then some doctors know. I never knew how hard I can fight for someone when that someone doesn't have a voice to fight for themselves. So, we are family and we take care of each other no matter what. Tessa's Journey is my journey. As long as I am breathing I will go to her infusion, her therapies and her appointments. I will travel wherever I have to travel if it is best for Tessa. Tessa is sunshine and her smile will make you smile. She gives the best hugs and when she says I love you it is music to my ears.” You see there truly is something special about kids that battle a rare disease like Batten. Have I convinced my readers of that? I’m trying. When it comes to answering the question, it will be one that I continue to ponder but it is a fact that it is them and they do produce feelings in us that are like none other. Tessa’s life will, no doubt, affect the lives of her family like no one else’s can. She has already taught her family things that they may have never learned otherwise and they have loved at a depth that may have otherwise never been reached. Are you having difficulty in your own life? Look at how Tessa has handled adversity. I am so glad that this family has each other and I am grateful for their willingness to tell their story to others. It was nice to take part in doing so. Have I said it enough? Another special family for sure. Thanks for reading Tessa’s story!
Blogger and Advocate
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. Let it happen!
I would like to welcome to my blog Sanfilippo families, as well as, families in other MPS communities. I am grateful for every opportunity to write about those who battle an MPS disorder. This, of course, alongside their special children. This is a labor of love that is extended to each one of you! Scroll down to see MPS family titles.
Highlighting a previous blog that might interest you:
Forever Royal - The Final Version
One child in a family with a rare disease is a challenge. What if there is two? Heartbreak multiplied you pick up the cause and do your very best to make a difference. That is how a normal family becomes Forever Royal ...
Take the titles listed below and go to month and year listed in the archives.
January 2017 -
*The Story Between The Lines
February 2017 -
*I Know Just Where You Are
*My Kind Of Royalty
March 2017 -
*The Caring Type
*Face to face: A Fairy-tale
April 2017 -
*No Ordinary Love
*A Rare Friendship
May 2017 -
*Tyrell and The Rare Love Story
June 2017 -
*Seth and The Healing
July 2017 -
*Little John and The Reason
*Sands and The Scottish Princess
August 2017 -
*A Rare Kind of Devotion
*The Giggle Box
September 2017 -
*Sweet Montanna and The Status
October 2017 -
*The Blog About My Blog
November 2017 -
*Lydia, I Love You!
*Kayden And The Change In Plans
December 2017 -
*Those That Are Like Them
January 2018 -
*Nora Skye - I Know Just Where You Are
*Brock and The Priceless Memories
*Jamesy Boy and The Treatment
*The Priceless Princess From Beyond
*Forever Royal - Part One
*Forever Royal - Part Two
*That Kind of Love - Conner's Story
*What I See (She is a Butterfly)
*No Longer Alone - Kristiina's Story
*Things We've Talked About - Oscar's Story
*The Reason Why - Hannah's Story
*Kayla's Perfect Princess - Breanna's Story
*Where Do I Go From Here? - An information only blog
*Warriors Unaware - Mia and Kaleb
*Her Little Story
*Someone Like Raelynn
*Forever Royal - The Final Version
*Awfully Beautiful - The Life of Noah and Laine
*A Lifetime of Love - Tegen's Destiny
*Forever Beautiful - Gabi's Story
*The Miracle Baby - Amelia's Story
*Dylan's Life - A Small Town Story
*Princess Grace and the Challenges
*Anything for Tessa - Her Story
*Haley Bug's Battle - A Family Story
Sanfilippo Syndrome and other MPS family titles -
*The Beautiful Light of Haidyn Grace
*Any Distance Traveled - Reagan's Story
*The Missing Someone - Kiernan's Story
Archives - Use title listed above with the applicable month and year.
Highlights from the beginning of 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