“I sang to him, called his name a number of times, and talked to him in hopes that he would come back to us, but with no success. I had no idea what was happening to my baby. I thought the worst and was on the ground crying like I have never cried before. The staring and jerking stopped after what seemed like an eternity, then he fell asleep.”
~Barbara Elizabeth Diaz~
Speaking of Kaleb’s first seizure
One of the things that I have seen during the time that I have been writing these stories is that there is no love like the one that exists between a Batten child and their caregivers. The bond that is created is incredible and that is the way that it should be. Batten children and the way that they model resilience and the indomitable human spirit are most often without equal. To put it plainly, these kids melt your heart. Think about the heartache that comes from watching these little warriors battle Batten Disease. Add in the effort that you see displayed as they give their very best. All the while, you often see them do so with a smile on their face. It is no wonder that they are adored by so many of us!
I know that I am always at the risk of sounding like a broken records as I have repeated myself many times over in this blog. I have shared the things that I see in these families in the past. I just have a tremendous amount of respect for them because of all they go through. The more that I have written about families that battle Battens, the more passionate I become about following their journeys. These kids are just the most amazing and they are due every bit of the attention that they receive. Batten Disease is for them, and their families, a battle. Sometimes, the battle involves controlling seizures and sometimes the fight involves just being able to breath. Sometimes, rather all of the time, the battle involves dealing with the emotional toll that the disease takes on a person. This, as they watch their little warrior lose abilities like being able to walk, or just see. Maybe the battle involves dealing with insurance companies in being able to get the things that you know you need. Sometimes, it involves dealing with an entire government agency for approving treatment that can help a darling child. Maybe you have dealt with people that just don’t care and those who just cannot understand. This is all, the battle that is Batten Disease. These kids are warriors and their families are asked to “warrior on” as the battle continues.
Is it fair to refer to children, and young adults, who have a rare and fatal disease as Warriors? After all, there are not many things that can compare to the terror of war. What about children with cancer? Still, there are others who have various forms of disabilities. Their bodies don’t work like we wished they did. This can lead to many days spent in frustration as those special needs are attended to. Perhaps it could be said that there are different kinds of warriors, as well as, different kinds of battles. I don’t think that members of the military would mind sharing that title with these children. After all, both types of battles are ones that are battles for your very life. Kids that battle Battens are true warriors! They fight so hard as the battle intensifies. Battens is a battle like none other (I know there are other types of warriors) and it is fought by those who should not have to fight. A child’s life is suppose to be filled with innocent fun and wonder as life’s lessons are taught to them. These kids are so special and it is difficult to find words that are adequate. Batten Disease is classified as being rare and yet you may not think so if you were to look at the number of children that battle it. They battle so sweetly and this next story is about two of the sweetest. They are both Warriors Unaware! Those two little warriors are Mia and Kaleb Diaz. Together, they are referred to as the Little Batten Warriors and this is how their story begins. Like it happens in most of these stories, the whole thing begins with two people who meet and fall in love. That is the way that it should be.
They were warriors at the time they had first seen each other. Actually, that was the name of their school mascot. They were the West Orange Warriors. Alex Diaz and Barbara Navarro first came into contact with one another while in high school. That was in Winter Garden, Florida at West Orange High School. Alex, whose legal first name is Alejandro, was a senior at the time and Barbara was in her sophomore year. They had no idea at the time what their futures held or that their future would include each other. Barbara would see Alex assisting the teacher as she attended her AP Spanish class but they were not yet acquainted with each other. It was through mutual friends that they would meet in 2003 and Alex would graduate in 2004. Barbara had been in a relationship at that time and it would be later that year that she would give birth to a baby girl. She was a special gift to Barbara and she would be named Jaylen. Baby Jaylen was beautiful to behold. She had all her fingers and toes and she was covered in brand new baby skin. Jaylen was a jewel in the making and she would one day grow up to be part of a very special story that was one in the making.
Barbara, herself would graduate from Ocoee High School in Ocoee, Florida. This was because her neighborhood had been rezoned in the time that she was in Highschool. She would graduate in 2006 and that would be around the same time that she would meet up with Alex. They had not seen each other in two years although they were friends online. Barbara said that it was through a couple of mutual friends of theirs that they had reason to meet up in person. Their friends had welcomed a new baby into the world together and both Barbara and Alex were there to meet and visit with the little family. Purely coincidence? I don’t think so! As the time together progressed, Alex and Barbara found themselves staying a bit longer in order to catch up with one another. Alex was showing interest in Barbara as, according to her, he was “showing flirty eyes” and shy behavior. Barbara went on to say that at that time, she had a lot going in life and she felt as though she was not ready for a relationship. Even so, they continued to be friends. It would, however, be about a year later that the future couple would reconnect over social media. Barbara had two jobs at the time and little Jaylen, who was three years old, to look after. Alex remained patient and that would pay off for him when it came to Barbara. They would spend long hours on the phone and would spend time together whenever possible. What started as a severe friendship would lead them to become boy and girlfriend. This was taking place in 2007 and as time moved along, they decided that a life together was what they wanted. They were engaged to be married in 2008 after Alex proposed to Barbara. Of course, she said yes!
The couple became man and wife on April the 16th of 2009. They didn’t have a lot of money but they had what was important. That is, family and each other. Things were kept simple as they were married at the courthouse. Only siblings and their moms were present. It was later, on the weekend, that the celebration took place and Barbara described the entire experience and the preparation that was involved, “We didn’t have a lot of money so it was nothing fancy. We stayed up all night baking four lasagnas and spreading butter and garlic on several loafs of French bread. My mother-in-law made our cake based on a picture that I found online and sent her. It was perfect and delicious. My mom made more food to serve that day and my grandmother made a beautiful balloon arch as a backdrop to the cake table. We had a white chocolate fountain to dip fruits in and that was probably my favorite thing there. It was small, simple, very intimate and perfect. We truly enjoyed our day.” The young couple talked about having a larger celebration in time when finances allowed. Perhaps for their five year anniversary. Alex and Barbara had no idea, at the time, what all would take place in the course of those five years. Then again, I guess we never do.
Making a Family
It is a beautiful thing when two people find love and set out to spend a life together. More often than not, the plans that are made include dreams of having a family and all of the things that would come along with that. Things like milestones that are reached and life events that bring with them lasting memories that are so special. I think that Alex must have felt that he walked into a situation that was pretty special and I bet that he just loved being Jaylen’s dad. And still, there was a desire to increase the size of their family. They worked on this from the very start but initially, Barbara was not getting pregnant. The couple took this as a sign that it was not the right time and that they would just leave the whole thing in God’s hands. It was time to relax and just enjoy being a family of three. That is exactly what they did and that brought with it a really positive result. The young couple had been getting ready to go to a get together with some friends and Barbara felt like she should take a pregnancy test before they went. She told me that she had not even finished washing her hands before she saw the word “Pregnant” flashing on the pregnancy test stick. They were going to have a baby. Jaylen was going to have a playmate! Barbara said that Alex was so excited and that he “beamed with joy” over the news. Right away, he had to share it with friends and he did so with a minimum of three of them. Their dream of increasing the size of their family was coming true and they were all so excited.
Barbara shared that the pregnancy was hard on her. She had lost her appetite and she had lost thirteen pounds as a result in the first trimester. The doctor was concerned. He felt that it was possible that the baby might not be growing at the proper rate and so he ordered monthly ultrasounds for Barbara. The tests would reveal that the baby was doing just fine and was growing at the proper rate. This was a relief for everyone. It was on one of the early ultrasounds that it would be revealed that the couple was going to have a girl. Little Jaylen was so excited with this news and so were mom and dad. It was during the ultrasounds that they could even make out small details of what would one day soon be a most beautiful baby girl. Every ultrasound technician had made comment about the baby’s lips. It seems that she shared with her dad what Barbara referred to as “full pouty lips”. Well, Alex is an attractive guy and sharing his lips with his baby girl would work out just fine. The couple had discussed names before Barbara even became pregnant and Alex told her that he liked the name Mia for a girl. Barbara instantly fell in love with the name, and so, Mia it would be! Barbara would also say that her future bundle was very active inside of her. She would make it difficult for mom to sleep at night. Barbara described what this little person was doing inside of her, “This baby was feisty and, oh so active. I would tell Alex that I couldn’t lay on my side at night because the baby would kick, jab and flip until I moved.” Kids will be kids and they often get their way. Don’t they?
Barbara’s pregnancy would move along and stay on track as the day arrived. They were so excited as they welcomed their new baby girl into the world. It was in the morning at 9:11 on June the 11th of 2009 that Mia Alejandra made her appearance. This happened at Winnie Palmer Hospital in Orlando, Florida. Mia was perfect in form and she was perfectly beautiful from the very start. According to Barbara, she had huge brown eyes, rosy cheeks, and just as expected, full pouty lips. Barbara described what she had seen and what she was feeling as she held Mia for the first time, “She was beautiful and so delicate. Holding her for the first time was so special, she looked right into my eyes and I fell deeper in love with her. Shortly after birth, she latched on like a pro and we fell asleep together.” There is a bond between a mother and her child that is like none other. It starts as mom carries the baby inside of her and it only deepens as the baby arrives. They now had two girls. How exciting! I know that Jaylen was thrilled to have a new little sister and Alex was so proud of his little family. He now had three beautiful girls in his life and life was, all of a sudden, very full and fun too! Barbara stated that Mia was a great baby. She was very easy going and slept through the night before she was even three months old. She was a happy child with typical development, meeting all of her milestones as one would expect. Some, she even met early. The future was oh, so bright and who would expect that it would be anything but that?
Alex and Barbara were overjoyed with the way things were taking shape. They loved having their two princesses and also the life that was theirs together. As time moved along, Barbara decided to continue on with her education by returning to college as the plan was to finish before having any more children. According to Barbara, her plan was apparently not God’s plan. This, because she soon found out that she was carrying yet another little bundle of joy. Barbara said that she had felt good overall during this pregnancy although there was a scare for them nine weeks into it. It happened while Barbara was at work. She was, at that time, experiencing some heavy cramping and thought that she may be having a miscarriage. She went to the emergency room immediately and Alex would meet her there. They ran some tests and did an ultrasound. Alex and Barbara were so relieved to find out that the baby was still there. It turned out that she had experienced a subchorionic hemorrhage and the ER doctor told her that she would most likely lose the baby within the next few days. This was heartbreaking news as they were already so in love with their yet to be born baby. However, their fears were relieved the following week as Barbara visited her regular obstetrician. He assured her that everything would be okay. The baby’s heartbeat was strong and Barbara was given a peace of mind about the baby’s future. Not only that, but it was discovered a couple of months later, during another ultrasound, that the subchorionic hemorrhage was gone.
Crisis averted, the baby would go on to do well and stay active. They would find out soon that Barbara’s next baby would be a boy and this left everyone super excited. How perfect is that? Barbara said that Alex was ecstatic! Who wouldn’t understand that? Alex was going to have a son. Expectations for a future together had to be high. In their boyish bundle’s case, they did not have a name picked out. They instead decided to wait until he would make his appearance on the planet. The day would arrive and the size of the Diaz family would increase by one with the birth of their baby boy. He would make his appearance on July the 8th of 2010 at 12:15 p.m. They named him Kaleb Alejandro and he was also born at Winnie Palmer in Orlando. I think that Kaleb must have considered it to be a rude interruption to his chill existence in his mommy’s tummy. This, because as Barbara put it, “Kaleb came into the world crying his little head off.” Kaleb was the perfect little man as he made his entrance in everybody’s lives. He had all of his fingers and toes, plus, he came straight to the showroom floor complete with that new baby smell. He already had a complete head of hair and one nurse decided that Kaleb needed a mohawk. A little baby with a warrior’s haircut.
Barbara would describe the reaction of the rest of the family as Kaleb entered their presence. He was held in his mother’s arms and she stated the following about the experience, “When I held him it felt like he was the missing piece to our family that we didn’t know was missing. Alex beamed with joy as he held his first son and held him with great pride. His sisters welcomed him with lots of hugs and kisses, they were so happy to have him as part of our family.”
Watching Them Grow
Moms are most often amazing in the way that they observe their children as they develop. Comparisons can be drawn from one child to the next as milestones of development are reached. This is only right as reaching milestones is an indicator as to whether or not a child is on track. I am sure that having big sister Jaylen around for comparison to Mia and Kaleb was useful. Everything had gone well with her development and in fact, she was really ahead of schedule in many ways. Jaylen could speak in both Spanish and English by two years of age. I also think that having Mia and Kaleb being so close together in time of birth helped to compare and contrast the speed at which they developed new skills.
Mia would do well in reaching her milestones. Barbara stated that she was walking unassisted by eight months of age. It wasn’t long after that she was entertaining others with her dancing. She sang so beautifully and so sweetly and she enjoyed doing so with her big sister. Mia loved to color and also loved helping in the kitchen. She liked baking so much that she would watch YouTube videos that she searched for by herself. That is amazing! Mom was quick to assist Mia in her progression. She enrolled Mia in Mommy and Me Gymnastics and they both enjoyed it so much. It took place every Saturday morning and they would complete the outing by going to the Cracker Barrel for pancakes together. This made Saturdays their favorite day of the week. Barbara also said that Mia had developed the most amazing little personality. Not only that but she was very kind hearted. Mia would seek out children that were playing alone at a playground and would play with them. It was easy to see that she was growing into one amazing little person!
And then there was Kaleb. Barbara said that little Kaleb epitomized what it is to be a mommy’s boy. She did so by stating that “wherever mommy was, there was that chunky baby boy too.” She also said that little Kaleb was, and still is, the “the happiest, sweetest, most caring and loving little boy…”. When it came to his development, he was right on track for the most part. The only exception was a speech delay that was noticed just after he turned one year old. Barbara would push for a developmental evaluation by age two. Alex and Barbara were told that Kaleb would catch up to his sisters as it was typical for boys to sometimes develop more slowly in the area of speech. It was also felt that Kaleb may have been confused because two different languages were spoken in his presence. The family would eventually start to speak only english in the house as a help to Kaleb and he would begin to receive various types of therapy. Those included speech, occupational, and physical therapy. All of this seemed to bring with it a positive result as the little guy began to show improvement.
Every family has their own challenges to face while raising children. That is part of living on this planet. Some will have challenges that are greater than others. Children will sometimes come to us with a disability or something that will have to be overcome. Sometimes, things that seem to be minor in nature develop into something that takes us completely by surprise. Just as one would expect to be the case, there was no way that the Diaz family could possibly have known what was lying in wait for them. Circumstances that were rare in nature would someday soon confront them. They would be given a challenge that was outside of the “normal” range of circumstance. Soon, a couple of little warriors would occupy their presence and a battle for the entire family would begin. To this point though, life was normal and the usual challenges would present themselves.
Alex and Barbara were a hard working couple. Having three children and keeping a household in place is a lot of work all by itself. Providing for your family requires hard work and dedication. Alex was providing for his family while working as a building painter. He would work by project and this meant that work was not usually year round. Barbara would alternate by working when Alex was not. Most people would understand how that could be a challenge in itself. As a result, Alex made the decision go into the military. He wanted to be able to provide a more stable income for the family, as well as, good health insurance and the ability for him and Barbara to attend college. This led him to join the Army in 2011. His initial time in the Army would include Basic Training and the additional training that is required for his military occupation. This, of course, meant a time of separation. Although this may have been difficult, it would prove to be well worth it. The family would eventually reunite and then Alex would be stationed at Fort Drum in New York. This took place in the summer of 2012. As a family of five, Alex would bring his own little army with him as he started his time in the military.
That first year must have been somewhat chaotic as the Diaz family adjusted to their new home and lifestyle. I am sure that there was also much to be excited about, as well as, a lot of joy over the experience of being together. The kids were all growing and together, they were all growing into being a very charming family. Life was good but the family’s circumstances would change as a very scary and traumatic occurrence would take place. Barbara remembered that it was on January the 3rd of 2013 that things would begin to change. They had family in town for the Holidays and something terrible would take place with little Kaleb. Yo Gabba Gabba is an educational children's television show that uses puppets and it was a favorite of Mia and Kaleb. At the time, Kaleb was watching it on Barbara’s phone while being held by his uncle. He thought that Kaleb wanted to go back to sleep so he handed him back Barbara. She thought that to be odd as Kaleb had recently woken up. All of a sudden, Kaleb stiffened and his eyes rolled back, fixed to the top right position. You can only imagine how panic stricken Barbara must have been as she observed this happening. She immediately handed Kaleb back to her brother and yelled for Alex to come downstairs. Kaleb jerked six times as Alex arrived within seconds of hearing Barbara cry out. Alex grabbed Kaleb and Barbara’s brother called 911.
Alex paced the floor, answering questions about Kaleb’s status. Kaleb was still out of consciousness and turning purple. Barbara was singing to him and calling his name in an effort to bring him back. She talked to him in hopes of bringing Kaleb back to them. All of this with no response. She had no idea what was happening to her baby and she thought the worst as she sat on the ground crying like never before. Barbara stated that the staring and the jerking would stop after what seemed like an “eternity”. Kaleb would then go to sleep as whatever had taken place had worn him out! The ambulance then arrived and Alex would ride with his son to the hospital. Barbara would follow in a car with her cousin. Both had wondered if what had happened with Kaleb was caused by the weather. This, because it was negative twelve degrees at the time. As you may have guessed, Kaleb was diagnosed with having had a Febrile seizure caused by an elevated temperature. At the time, he had a temperature of 101.9 degrees that was caused by a bilateral ear infection. They read the paperwork that was given to them and would spend hours on google for more information. They loved their little Kaleb, and who wouldn’t understand that? For Alex and Barbara, it was the scariest day ever and they would bring Kaleb to the pediatrician the following morning. He was prescribed antibiotics and pain medication for a two week period. Barbara would watch little Kaleb like a hawk after purchasing several types of thermometers. Alex helped Barbara calm down as things “kinda” went back to normal, however, she would not leave Kaleb’s side.
As Barbara would put it, “This was only the beginning” of their journey as they had no idea how dramatically, their lives would change. The circumstances that would involve two of their precious children would continue to be pieced together. This, as the next event took place just three weeks later and this time, it involved their little jewel Mia! It happened on a busy but “regular” day and with that, their lives would become anything but regular. The day was January the 22nd of 2013 that they decided to get chinese take out for dinner. They normally ate dinner together at the table with the two youngest in their highchairs. On this day, they had been out and busy so they allowed the kids to watch Yo Gabba Gabba while they ate. This meant that the two of them were facing away. Barbara said that she noticed something dripping from Mia’s chair. She thought that Alex had given Mia some water and that it was spilling onto the floor. Alex had not given her water and he thought that perhaps it was because she had an accident. Then Mia leaned over and looked down to the floor. Barbara urged Alex to go check on her as she felt that to be unusual. Alex felt that perhaps she was sad over having an accident but then realized that his little girl was not okay. Barbara described the scene and what her reaction to it was with the following, “Alex picked her up and told me that she was having a seizure, the gaze she held was too familiar to us and she started to turn purple. Mia didn't twitch or jerk, she just had her eyes fixed to the top right and was breathing very slowly. I was stuck, I couldn't move from the dinner table. Alex passed by with her in his arms and when I saw her face and clenched hand I couldn’t help but think "why is this happening? What is going on with our children?” It felt like a nightmare.”
This time, the family of five was alone in the house. Barbara said that her hands were shaking so bad at the time that she couldn’t dial 911 and so Jaylen, who at this time was eight years old, called for an ambulance. Barbara went on to say that she would get ahold of herself and inform the dispatcher about the ongoing situation. Mia would then stop seizing and would fall asleep. Alex, once again, accompanied one of his children on an ambulance ride to the hospital. Can you imagine his level of concern as all of this was happening? Barbara would load Kaleb into the car and, along with Jaylen, would follow in route to the hospital. Once there, they took vitals and and also did bloodwork. They even did a CT scan and everything had come back in the normal range. Barbara had hoped that this was the result of a Febrile seizure but in fact, there was nothing that they could attribute Mia’s seizure to. The staff said that it was probably a fluke. That is not something that you tell a child’s parents and in fact, it didn’t sit well with Alex and Barbara. They immediately searched for a pediatric neurologist and they were actually able to get in for an appointment the next day. This required an hour and a half drive to Syracuse, New York. That didn’t matter to them as they would have done whatever it takes. Alex and Barbara received referrals for EEGs and more blood work while they were there and with this, a ten month search for answers would begin. There was so much more that would take place and the next occurrence would happen just four days later. This time, it would involve their little man Kaleb.
It was breakfast time and Kaleb was hungry! He had made his way into the kitchen as Barbara was making breakfast and he was a little whiny at the time. Kaleb was acting kind of “bothered” as he approached Barbara and then he fell forward. Barbara said that Kaleb can be clumsy at times but this was different because he did not catch himself. She then picked him up and he seemed a little bit scared but otherwise fine. She then put him down and he headed back into the living room. As Barbara was headed to the breakfast table, with food in hand, Kaleb walks towards her but then falls again. Barbara called Alex and asked him to come home as It was easy to see that something wasn’t right with Kaleb. Another trip to the emergency room and this time, Kaleb would have a grand mal seizure. How scary this must have been as the frustration continued to grow. Kaleb turned pale and then blue and he was not responding. This time, as they ran labs and checked him out, it was determined that he was fine. No fever or ear infection.
Searching for Answers
As a result, the couple would contact their pediatric neurologist who wanted Kaleb admitted to the children’s hospital in Syracuse. Alex and Barbara would do just that as more testing would be performed during the stay. The testing would include an EEG and all tests would come back as being normal. What was happening to these beautiful children? The doctor wanted to start both Kaleb and Mia on antiepileptic medication however, Alex and Barbara were not comfortable with that. They instead wanted answers as to what was causing this. They wanted to know what was causing the seizures. Barbara further explains what their thinking was at the time with the following,“We thought it had to be environmental because both children started seizing within weeks of each other and it just didn’t make sense. Plus, the fact that we lived in an older home on post had us thinking.” As a result, they had their home tested for lead and had the air quality tested as well. The testing of the house would reveal that nothing was wrong with the environment within.
The couple wanted another opinion, however, the next closest pediatric neurologist was three hours away in Rochester, New York. This caused them to make the decision to seek out that opinion at home in Orlando, Florida. They would travel there in April of 2013 (Alex would later have to head back to New York because of his job) and would select a new neurologist after after doing some research. They made their selection and the result was that both children would undergo a 24 hour EEG. The doctor would add additional time, if needed, until he either caught a seizure as it was occuring or he got what he needed out of the test. They started with Mia and then did the test on Kaleb the following week. The doctor had a testing facility right next to the clinic where they would stay for the test. Mia loved it there as they offered unlimited snacks! After completion of the testing, an appointment was attended in which both kids received the diagnosis of epilepsy. They were both started on medication with the hope that it would lessen the frequency of the seizure and that one day, they would outgrow them. There must of been a sense of relief with the initial diagnosis but this would be short lived. At the time that June 1st rolled around, it was noted that the seizures were getting worse, not better. How discouraging this must have been. Poor Mia would go into a full body seizure as soon as she stepped outside into the summer heat of Florida.
Barbara said that it seemed like Kaleb was dropping to the ground every half hour. Everyone was very concerned and this included the children’s neurologist. Barbara went on to say that this all would have made better sense if the kids were twins but they were just two siblings whose births were separated by time. How could all this be happening to two different children in one family? Mia and Kaleb’s seizures had both started around the same time and they were out of control in both children. The doctor would make a medication change for both of them and he decided that the search for answers needed to continue. He asked Barbara to schedule an MRI of each of their brains and said that they would go from there. The next step in the search for answers came right before Kaleb’s birthday and Alex took time off for both MRIs. The results of the tests would show that there was mild atrophy of Mia and Kaleb’s cerebellums. The doctor said that Alex and Barbara shouldn’t worry as that could mean nothing. He wanted them to wait on the results of a genetic panel that he wanted performed on each child. As you would expect, that testing is expensive and the family would have to wait on authorization from the insurance company. It would take over a month for the approval to be given. In the meantime, they would have to wait and endure as they continued to wonder what was taking place with these two precious little people.
They call kids warriors for a reason when they battle rare diseases (and childhood cancer). This, because they have to endure things that should be missing from a child’s life. These little people battle even though they may not be aware of the gravity of their situation. Sometimes they battle reluctantly and sometimes they do so because that is the life that they have come to know. Often times as they battle, they do so with a smile on their little face. One thing that amazes all of us who follow children that battle Batten Disease is the resilience that they display. The way that they innocently accept their plight is something that just amazes me. And still, I am sure that it is never easy for them and it is certainly not for those who battle alongside. I am trying to picture what it was like to have not just one but two children that are suffering from something that they did not know existed, while not yet having the answers. Alex and Barbara pressed on because they loved their kids and wanted to do what is best for them. Finally, the time came in which their kiddos would get their blood drawn. In everything that the future would hold, these little warriors would face it together. Brother and sister. I’ll leave this part in Barbara’s own words, “In August (2013) we finally were able to get their blood drawn for it. They (mostly Mia) were so accustomed to having their blood drawn that Mia will always volunteer to go first, she extended her little arm and with tears in her eyes would stay very still until it was over. Then she’d say ‘it’s Kaleb’s turn!’ And in a sing-songy voice she’s says ‘Kaaaleeeebb your turn!’. Kaleb of course, hated it and screamed bloody murder as we had to hold him for it. I’ll always remember how attentive my girl was, most children’s clinics have stickers or lollipops so when given one (Kaleb was usually engrossed in his ipad) she’d always remind the nurse about her brother. She’d tell them ‘Kaleb wants one’ in the cutest most concerned voice.” Mia is so special, so innocent, and so sweet!
Barbara was told that it would take six to twelve weeks to get the results of the blood tests. It was a challenge for her to wait and Alex had returned to New York. I am sure that the distance between them kept him anxious as they waited for the results while being miles apart. The one thing that helped Barbara during the wait was that she was kept busy by tending to the children. The change in medication must have helped because the seizures were eventually back under control. This allowed them to go have some fun. Barbara and the kids were able to go to the beach and they were even able to go to Disney World on occasion. The kids started school, Mia in Pre-K and Kaleb in a special program for kids with speech delays. Even though busy, Barbara would still check to see if the results of the testing were available. She called on a few occasions but each time, Barbara was told that they weren’t available yet. I am sure that this led to anxious moments that were difficult. The wait would continue and it would last all the way into mid-November of 2013.
It was the 14th day of the month that Barbara found herself with, her children, in the waiting room at the neurologist’s office. The day had finally come and it would be a day like none other. One that Barbara will never forget. They were called back to the exam room as Mia and Kaleb were doing what kids do. That is being kids. I am sure that for Barbara, there was a lot of tension in the air as she anticipated hearing what the testing had found. It was easy to see from reading about the event that the kid’s neurologist was a very kind and empathetic physician. Barbara’s response to what she would hear seemed so much like the other accounts. Those being, the ones that I have read from parents that have received the news that their child has Batten Disease. Here is how she would put it to me, “Dr. Davis walks in, greeted each of us as he usually does, sits and just looks at me. He looks at me with this look that at the time, I didn't understand. Mia goes up to him and sits on his lap, he looks at her and says ‘oh sweetie’ then glances over at Kaleb with the same look still on his face. He tells me that he doesn't have good news and that he hates to be the one doing this. He said a bunch of things that I cannot remember, it was like a foreign language to me. Whatever he was saying started to sound really far away but he was directly in front of me. I only remember hearing ‘..and the worst part is that they both have this and I can't fix it’. I kinda snapped back into reality and he noticed that I had not understood a word he said. He was very kind and told me that if I have any questions or if I just want to talk, to call or come in at any time.”
Barbara was given a stack of information that included the results to the testing and she was advised to make an appointment with the geneticist. As she heard this from the doctor, her thinking was that the geneticist is the one that could treat Mia and Kaleb. That was the person that could fix this problem! Her next step was to contact Alex and inform of the findings. He agreed that she needed to contact the geneticist as soon as possible. With hope still in the air, she moved quickly to get an appointment. As it turned out, she was able to get a late appointment for the same day and so Barbara rushed to pick up Jaylen from school in time to make the appointment. Unlike Dr. Davis, the geneticists bedside manner, if you will, was not empathetic at all. She was very cold and cruel in the manner in which she explained the seriousness of the children’s condition. Very bluntly, the geneticist had the following to say, “They will be bedridden, tube fed and blind. There is no cure, we can only treat the symptoms.” It would be devastating enough if all of this was explained to Barbara in a kinder fashion. What little hope that remained for a fixable situation was dispelled with the careless explanation. Barbara’s response was, of course, so much like all parents that receive the news that brings with it utter despair.
Reaction and Resolve
Here is more of what she had to say, “I held back my tears as the kids were present. The nurse came in with a green folder with more papers inside. I opened it and for the first time, read the words ‘Batten Disease’. I loaded the kids in the car, called Alex and broke down crying while hiding behind the opened trunk of the car. Driving with tears running down my face, we were almost home and I heard Mia say ‘Mommy, I want a gurgur!’ We were passing Wendy's and of course I stopped and got her a burger, a frosty and fries. They were so happy enjoying their food and special treat.” So innocent and unaware of what their lives would entail, both Mia and Kaleb would be enlisted as warriors of a rare and most adorable kind. These kids that battle Battens just melt me inside as I think about their plight and what life should be for them. Barbara said that she would get home and begin a frantic search for information about a possible treatment. Alex would do the same thing from a thousand miles away. They each searched and shared what they had found. Nothing that they had seen showed any promise of helping Mia and Kaleb. That day had to be one of the worst ever experienced by the two of them. Barbara said as much with the following, “To say we were devastated and heartbroken is an understatement. We were told that our beautiful and happy toddlers had already lived about half their lives.”
Alex and Barbara had been given this most perfect, and perfectly beautiful little family. This, only to be told that they would one day lose a big part of it. It seemed at that point that things were completely hopeless, even in regards to a form of treatment. There would be no way to know what this young couple was experiencing unless they were to tell us themselves. Barbara shared more about what she was feeling at the time when she had written the following, “It's the type of pain that makes you feel like you're dying but numb all at the same time. It felt as if nothing in the world mattered, nothing at all. It felt as if the ground was taken from under you. You’re lost without direction or purpose. The world kept moving but I felt as if it should’ve stopped. It angered me that it hadn’t stopped. My children were dying and it seemed so cruel for life to continue to happen. I didn't sleep or eat. I simply obsessed over finding something, something to help save them.”
Without exception, parents who are given this news go from having feelings of complete devastation to ones that include great resolve. They decide that their children deserve every ounce of energy that they can give towards helping them to battle Batten Disease. The children become warriors but then, so do the parents. They all begin a search for help and information. The search begins, in most cases, with never having heard about the disease before receiving the diagnosis. Alex and Barbara began their search and it would include a series of Facebook group pages that would lead them to a very important couple. That couple would be Tracy and Jennifer VanHoutan. Just like Alex and Barbara, the VanHoutans had two beautiful children who had been diagnosed with the same variant of Batten Disease (CLN2 Late Infantile). Barbara would be able to make contact with them over the phone and they would share information and opinion that would be invaluable to her and Alex. I had the privilege of meeting Tracy and Jennifer VanHoutan at last years Batten conference and I was immediately impressed. As I write these words, the VanHoutans have lost their sweet children, Noah and Laine, to Batten Disease. That, however, was not the case when Barbara had made contact with them.
Barbara said that the VanHoutans had a lot of helpful information about therapies, vitamins, supplements, and most importantly, they shared with Barbara about clinical trials that were available. There were two different ones being done. One was a trial being done in New York involving gene transfer. There was also one being performed overseas and this one was an enzyme replacement therapy. At that time, it was only being performed in Germany but it would soon make its way to the United States. Barbara remembers that Tracy and Jennifer recommended the enzyme replacement therapy for Mia and Kaleb if at all possible. Their own children, Noah and Laine, would no longer qualify for the trial as they had progressed too far into the disease. This did not stop the VanHoutans from giving guidance to Alex and Barbara as that is the kind of people that they are. The Diaz family is far from being the only family that has received their help! Barbara reflected on that initial phone call about what she was feeling with the following words, “On this call, the VanHoutans told me that this is the route they would go if they still could. Their sweet children, Noah and Laine had already lost the ability to walk and talk and wouldn’t meet the qualifications to take part in the trial. I️ remember being on the phone with them and looking at their beautiful family photos on Facebook. My heart broke yet again for them and to learn how quickly this disease progressed just crushed me.”
Entering the Whirlwind
Barbara had just been told that two of her children had Batten Disease and all of a sudden, she was forced to process all of this information as she was surrounded by what must have seemed like a whirlwind of events. She would tell me that her “mind was all over the place” as she tried to process everything that she had learned. The sacrifices that these families are willing to make is something that always impresses me. Barbara would send an email to BioMarin, the creator of the enzyme replacement therapy, and they had made preliminary plans to move to Germany if accepted into the program. They were, in fact, soon in contact with the doctors involved with the trial and they would have to furnish proof that Mia and Kaleb met the qualifications for being accepted. Here is what Barbara had to say about the process, “They needed videos of the kids walking and talking but unfortunately, Mia stopped walking that Christmas. For months, we tried to capture videos of Mia taking steps and Kaleb saying words but it was incredibly hard as Batten progressed in their little bodies and their seizures worsened. It was January of 2014 when we received an email that they would be starting the trial in the United States and we knew that we must try our best to get our children in it.” There was hope in the air but challenges that needed to be met. Just like Barbara said before, the world around them was not stopping and life continued for them. Alex would take leave whenever possible and join the family in Florida. It was April the 5th of 2014 that their anniversary would come and the couple would renew their vows together in a beautiful ceremony. They then would take a beautiful family cruise to the Bahamas afterwards. There would be more trips to Disney World and also many trips to the beach for more summer fun. Little Kaleb was granted a Make-A-Wish trip and they decided on a Disney Cruise. It was amazing and Kaleb had the time of his little life. How wonderful! It was a perfect trip for him!
Alex and Barbara had not heard anything back concerning the enzyme replacement trial as August of 2014 rolled around. This led them to the decision to travel to New York to have both kids screened for the other trial. The testing was invasive and lengthy but they felt that they needed to have a back up plan in case things didn’t work out with the other trial. By the end of the month though, they were given the news that the enzyme replacement trial was a go here in the U.S. and it would be happening at Nationwide Children’s Hospital in Columbus, Ohio. They would make sure that the necessary information for their two children was forwarded to the doctors that was running the trial. Life, however, did not stop for this as September rolled around. Alex would have to transfer with the army and the family would find themselves in Colorado Springs, Colorado together. The key word there is “together” as they were once again, under one roof after 17 months of being apart. They would grow to love it in Colorado and the kids would become involved in therapies that included horseback riding. Mia and Kaleb loved doing this and, of course, those who knew them grew to love them both. Go figure! Things were not perfect though as the disease continued to take its course. These two precious little people continued to battle.
Barbara said that Kaleb was falling with greater frequency and he was becoming injured as a result. His little head and face showed the marks that were the result of the drop seizures he was having. Poor Mia was experiencing grand mal seizures that were just horrific. She was having them five to six days a week with them coming at least one per hour. As one who has witnessed grand mal seizures, I cannot imagine what this was like for this family. How terrible and how terribly discouraging. Knowing that there was this trial that could help and yet, having to wait. Some of the seizures were so bad that emergency medication had to be given and oxygen was even needed at times. This all left Mia being tired and her’s and Kaleb’s little bodies being battle weary. They would receive new information as October rolled around. They were told that the trial was “a go” and they informed Barbara that they would have to move there to Ohio for a year. I think that my head would be spinning too at this point. They were constantly praying that their two little Batten warriors would hold up long enough to get started with the trial. And then, it was November that they received some devastating news. One year after receiving the diagnosis, Alex and Barbara were told that there was only one spot available in the trial and that both children would not be able to participate. They were told that it would most likely be Mia that would start because she had not digressed as much as Kaleb. How difficult this must have been to hear! They decided to expedite Mia’s Make-A-Wish trip. This, as the trial would begin with brain surgery to insert a shunt for receiving infusions twice monthly. It was December of 2014 that the family would take Mia’s magical trip to Disneyland in California. The trip included time spent at Universal Studios in Hollywood. Mia loved her time at Disney which included a princess makeover. How fitting! It would be time to pack for the trip to Ohio as soon as they returned. Oh, my goodness! Mia would still have to qualify in order to be accepted and here is what Barbara had to say about that first appointment in Ohio, “It was our appointment day. We were so nervous we trembled and prayed and prayed that they’d tell us that they had another spot. After a long day at the appointment, we were told Mia was accepted. She walked 18 steps and said enough words. ‘Mommy, I want to eat eggs’ (in her own way but it counted).”
Mia, you did it! And so, on December the 12th of 2014 Mia had her surgery. She would become one of only three children to receive enzyme replacement in the United States and it would happen one day before Christmas eve. She would do so well with it and would earn the right to wear the title, Warrior Princess. The bi-weekly infusions would become part of the families routine. Alex would, once again, have to leave to get back to his job in January of 2015. This time, he was traveling back to Colorado and Barbara would again be alone with the kids. It would be in the summer that he would be able to gain a temporary position within Ohio so that he could be closer to his family. Alex and Barbara had become a warrior dad and a warrior mom for more reasons than one. Barbara said that they started to see small gains with Mia and she continued with the therapy. She was having fewer seizures and she was taking more steps. She was eating better and you could see the difference in her. What about poor Kaleb? While they had to have been so happy to see the improvements in Mia, Kaleb was declining. Here is how Barbara described what they were experiencing with Kaleb, “Our happy, energetic and lively 5 year old little boy took such a downfall. The end of 2015 was the beginning of even more struggles for Kaleb. He started to choke on his food, he began falling more often and he was having hundreds of seizures. He didn’t feel safe on his feet so he was mostly in his gait trainer or wheelchair.”
Right before their eyes, they could see the difference from one child to the other. One being treated and one not. I’ll let Barbara tell you what they were feeling, “It was incredibly hard to watch one of your children’s quality of life improve while the other one declined. It was absolutely heartbreaking but we still celebrated by Mia, all of her accomplishments and small victories which were grand in our eyes.” They would not give up on the prospect of Kaleb getting into the program. Alex and Barbara continued to send letters and emails to those by which Kaleb could gain entrance into the trial. Finally, by May of 2016, they were told that there was a high probability that little Kaleb would be able to receive the therapy. The big day would come and it would be in the following July, on the 6th day of the month. It was just two days before Kaleb’s 6th Birthday that he would have surgery to insert his shunt for the infusions. He was now to be only the fourth child to receive this therapy. As I write these words, there have been so many more that have gained access to this trial. Mia and Kaleb are not only little warriors. They are also little pioneers and they are so adorable!
Live Like Warriors
So as this story is being written, Mia has been receiving infusions for a little over four years and Kaleb has been receiving them for about two and a half years. They have just completed treatment number 110 and 68 respectively. Both of these little people are Batten Warriors in the truest sense! As one might imagine, Kaleb has struggled because he did not receive his first treatment sooner. This, of course, allowed further progression of the disease in him. The last two years have been difficult to say the least. Kaleb has had a feeding tube inserted for nutrition and he has been weakened to the point that he has had bouts of pneumonia. Even with the struggles, Kaleb’s presence at the Diaz house has provided many moments of joy mixed with extreme pride. This, as the family observes what a strong little warrior he can be with a little help from those who love him. Barbara shared a little more about Kaleb’s journey with the following, “He has had many daily struggles but still manages to steal your heart away with his tender smiles. We have now learned how to protect his lungs to keep him out of the hospital, strong and healthy. He has been showing us just how strong he is lately and we are impressed.”
Mia, of course, has benefitted from getting a jump on receiving the enzyme replacement therapy. Barbara shared what she is seeing in her daughter, “Miss Mia is incredibly strong. We are lucky that she is besides having Batten disease, a very healthy child. She eats well, walks with assistance and can still communicate with us with words. She just made 3 years without having a seizure and that’s just amazing.” Barbara shared that, in so many ways, Mia is just like any other little girl her age. This, even though Batten Disease has taken some things away. She still has her favorite movies and her favorite foods that she loves to eat. She loves music and time spent at the playground. She still loves watching Yo Gabba Gabba, and other shows like the Powerpuff girls. According to Barbara, “Mia is a happy, cheerful, playful, and fiesty nine year old little girl who loves life.” She added this in another place, “She loves to swim and ride on roller coasters. We encourage and help her do things to allow her every opportunity.”
The enzyme replacement is a wonderful thing. We still need a cure for CLN2 Batten Disease but having the treatment available is something to be very thankful for. Kaleb has certainly benefited from it even though he did not get to start it as early as his big sister. Barbara shared the following with me concerning her special guy, “Although Batten disease has already robbed Kaleb of so many things, Kaleb is still a regular boy in so many ways. Kaleb is a sweet, happy and playful eight year old little boy who enjoys life. He loves cuddling, being read to, watching his favorite movies/shows and being in his gait trainer/walker.” Kaleb loves music and he even has a favorite artist. He loves the music of Andy Mineo and in fact, Kaleb has met him four times! Way to go Andy! Kaleb loves Mickey Mouse, Nemo, and Monsters Inc. among others. Barbara said that Kaleb has had a crush on Rapunzel since he was one year old. Oh Kaleb, she is a beauty and I do not blame you one bit for that! Kaleb loves to swim and has taken a liking to roller coasters as of late. Just like with his big sister, mom and dad encourage him to enjoy everything in life that he is capable of enjoying.
What about Jaylen and all that she has endured? I haven’t talked about her too much in this this story. It is easy to see from all of the pictures that she is growing into an attractive young lady. I just bet that she has some maturity that is above that which is possessed by her peers. It is easy to see that she loves her sister and brother to moon and back but I know that she has been challenged by what is faced as a family. Barbara shared a little about Jaylen with the following, “We are constantly trying to tie the two worlds together so that Jaylen doesn’t miss out on having a ‘normal’ life. Jaylen has endured so much suffering as she has watched her siblings deteriorate right before her eyes and her life is mostly revolving around Kaleb and Mia. We hurt deeply for her hurt also.” I believe that as Jaylen continues to live her life, she will affect other people's lives through kindness. This, because of all that she has experienced. I have no doubt that she is a special person and that she will continue to be that!
Love Like None Other
I asked Barbara to describe the love that she has for each of her children and I will share what she told me as I begin to conclude. She used something from her childhood to reflect on as she began to answer my question, “You know when you were little and asked your mom who her favorite child was and she said something like you’re all my favorite for different reasons. I never got that until I became a mom myself.” She continued by sharing her feelings for little Kaleb first and then moved on to MIa, “My love for Kaleb is one that has never needed words. It’s the type that squeezes your heart a little until it physically aches and makes you all warm inside. We love that little boy to pieces and although he has never been able to say the words, we just know he loves us too. Kaleb has taught us so much about life. Patience, resilience, bravery and that words are not always necessary. Loving Mia is so easy. She’s sweet, fun and full of sass. Mia has taught us to be more adventurous, carefree and kind. She’s still that caring little girl seeking out a lonely soul to love on.”
I know that Jaylen has a very special place in the family as the oldest sibling and that she plays an important role in the house. Here is what Barbara had to say, “The bond and love we have for Jaylen is very special. Since I first learned I was carrying Jaylen, she has been teaching me so many important lessons. There is a big reason why she was sent to this earth when she was. Her sense of humor and compassion are two of our favorite things about her. Jaylen has such a big caring heart and the love she has for her siblings is incomparable.” Each one is special in their own way, just like Barbara said. They are special and they each belong to a very special family!
This is such a difficult challenge for any family. It is hard to find the positives but sometimes you are forced to look for them even if on most days, they just don’t seem to exist. I find that it is commonly expressed by all Batten families that they live in the now and that they try not to think too far into the future. Barbara stated her thoughts so practically, in the following, concerning how their lives have been impacted by Battens, “Batten disease has taught us to not take a single moment for granted. We have always valued our family time but now we are more aware of how delicate life is. We appreciate every day that we get to spend with our children and try to not spend too much time wallowing but making memories instead. (Although some days you just need to wallow with a large pizza).”
Batten Disease has. Of course, greatly affected this family and here is more of what Barbara had to say about their experience, “It has greatly affected us as a family as well as individually. We find ourselves carrying this huge load of pain while still tackling the daily mundane tasks as well as the major job of raising a teenager and caring for two medically complex children. It’s incredibly hard. Physically, emotionally and mentally. Relationships are hard, heck even getting out of bed in the morning is hard. Although I know that you don’t have control of your life in general, being a Batten parent teaches you that you are not in charge of a single thing in your life. All we can do is try our very best every single day and get up the next day to do the very same thing again.” I asked Barbara more about what their life is like and how they cope with the hardships that are faced. Here is what she shared, “We have found that keeping busy making memories and going on adventures as a family is our favorite way of coping. It is extremely difficult to think about what the future holds but we do hope that we see a cure for Batten disease in their lifetime. In the meantime, we hope that we are giving them the best life they can have and are making the right decisions for them, all while surrounding them with the love they deserve.”
During a lighter moment, I had shared with Barbara the fact that I had been referring to her and Alex as “my hispanic Ken and Barbie dolls”. This, as they are both attractive people. I was very much relieved by the fact that she laughed at my comment. In fact, she told me that some of her friends refer to her as Barbie. I truly believe that a person’s physical appearance is not everything. The substance of a person is really what is important. Alex and Barbara, however, are both people of substance and they are attractive as well. Their kids are all beautiful, just as you would expect them to be. What is a family like this supposed to be experiencing? Yes, there are early milestones that one hopes will be met but there are also so many life events that are important. Soccer practice and recitals. School dances and graduations at various grade levels in hopes that they will one day go to college or become successful in a trade. Maybe your daughter will be successful at being a mom and a homemaker. We look forward to all of the normal challenges of raising kids in hopes that one day, they bring us a son or daughter-in-law and maybe, grandkids! Along the way, a lot of precious memories are made as the years pass. Those are the things that sit in the back of our minds as new parents bring a child into the world. It is true though that it is often part of the human experience for things to happen that we never would have expected. When it comes to something like Batten Disease it just makes you want to say to yourself, “this is not fair!”
I had mentioned in a previous story that I had a brief encounter with Alex at last years conference. I found him to be very kind and gentleman like. I did not know at the time that he was active duty military. Both my wife and I are veterans and we would like to thank Alex for his service. He has had a lot on his plate, so to speak. I am sure that being in the army has brought with it other challenges, and I know that the time away from his family has been difficult on both him and Barbara. He is a great dad who loves his family and he would do anything for them. Barbara is an amazing mom who does her best to remain upbeat in the midst of the daily struggle. She is so nice! It is easy to see that this couple loves each other deeply. I know that their love will endure and even grow as a result of what they face together. Both Alex and Barbara contributed to this story in a big way. They not only helped to write it but they are living it out as their children battle. This is another amazing family that is battling Batten Disease. They just sought to be regular in their existence but they were asked to do something that is extraordinary. As a result, they have become a family that is completely special. No two little people will affect the lives of those that know them like Mia and Kaleb will. They both have a ton of fight left in them as they are both Warriors Unaware. We need a cure for CLN2 and for all of the other variants of Batten Disease. These kids are counting on people that can make a difference. There is something truly special about them! Let’s give them our best!
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Highlighting a previous blog that might interest you:
Journey Unexpected - The Rich Family
One child in a family with a rare disease is a challenge. What if there is two? Heartbreak multiplied you pick up the pieces and will yourself to do your very best. A love that is profound and a bond that is stronger than any other is formed. Two little beauties in one family is two, too many but you seek to make a difference! A journey unexpected...