“I immediately looked up Batten Disease and started crying. The more I read the harder I cried. I still remember seeing the word ‘fatal’ through my tears and stopped reading and started praying. How could this be my daughter’s future?”
Addy’s Mom and Advocate
Most often, having children is just the natural thing to do when you find that person in life. The person, that is, that you want to spend your life with. For most everyone, it’s just the natural thing to do. That is the way that it was for us. Both my wife and I had siblings. In my wife’s case, she came from a large family. As a young married couple, we had friends that were having kids of their own and doing so was a shared experience in the peer group that we were a part of. I have to admit that we hadn’t put a lot of thought into things. As the saying goes, when you aim for nothing, you hit it every time. Thankfully, everything turned out well. Yes, we would one day find ourselves being parents to a child with special needs. Yes, there have been challenges along the way but we wouldn’t change anything at this point. For other people, things are different. They plan their future out as far as career ambitions and having a family. People often think about the size that they want their family to be and they sometimes have a gender in mind. That is hard to control of course but many people will get the desires of their heart, boy or girl. I can tell you that after raising three kids on one income that two children sounds like a good number. In that case, one of each, a boy and a girl sounds good. I want to add that in some cases, children who were unplanned can come into a person’s life. In that case, it is the most wonderful thing when someone discovers that having that little person in their life is an amazing experience. An experience that they were meant to have.
I think that for most parents, they just love having a family, no matter what the gender of their children. However, a case can be made …. There is a special bond between a dad and his son. It is also very true that the bond that exists between a mother and her daughter can be especially close. I always like to say that there is no love like a mother’s love. It’s a maternal kind of a bond that takes place before the child is born. Moms love their baby boys of course but the relationship that is formed between a mother and her daughter is often very special. It’s a “no brainer” that people of the same gender would relate well to one another. When it comes to a mom and daughter, this would be real on an exponential level. The shared experience as a daughter grows and the mom's ability to relate her own upbringing to her daughter’s would cause this to be true. There are so many things that a mom might look forward to as she holds her infant daughter for the first time. Think about the shopping trips together and all of the conversations that would be had. Think about time spent at different restaurants and all of those four dollar cups of fancy coffee together. There could one day be trips to the beautician together, the list goes on and on. There are all of those life events that are looked forward to as well. Dance recitals and sporting events. Graduations at all of the different levels of education, all while having the opportunity to provide guidance as the years pass by. The bond grows closer and closer with time.
Sure there can be troubles along the way but those are dealt with because of the love that exists. The ultimate experience for a mom is seeing her daughter’s hand being given in marriage. This while knowing that she did her absolute best in helping her daughter to develop into adulthood. The relationship doesn’t end there. It’s one that will last for a lifetime. It’s common to face problems along the way. Some will see more than others but hopefully, the struggles faced are ones that can be overcome. One would expect situations to occur in the course of raising a child and some can be more difficult than others. And still, there are situations that may arise that are rare and that no one could see coming before they happen. That’s what takes place when a child is diagnosed with a rare disease. All of a sudden, the things dreamed of begin to slip away. All of a sudden, life is so different than one could have imagined. Given the word terminal as a part of the diagnosis shatters the reality that was once expected. There is shock and complete dismay over receiving the news that changes a family forever. That is what happens when a parent is told that their child has Batten disease. The milestones of a child’s development will be stopped or erased as digression sets in and abilities are taken away. The complete and utter shock over such a diagnosis will eventually give way. This, even though the heartache continues. There is however, a change that takes place. What is felt initially will eventually give way to a renewed strength and a will to do everything possible. That is to help your child battle like the little warrior that they must become.
Things are now different. Life has changed in a dramatic way. There are challenges that will be faced that are unknown to most any other family. This is because of one person who really needs you and needs your understanding. As a family, challenges will come and all family members will be affected by this one who battles. There is a type of love that occurs when love is mixed with heartache. This is a type of love that is profound and a type of love that is undying. Those who love one who battles have no quit in them. You never know how strong you can be until you have no other choice. It is so discouraging to see the things that were expected slip away. And yet, there will be times of tenderness and memories being made that are oh, so sweet. That is what life is like when someone battles Batten. Heartache not experienced by many will be felt. It will be mixed with love so strong and a bond that cannot be broken. Each one of these families are special because of the special circumstances that surround them. This is not even to mention the one who battles Batten. Each one is a resilient young warrior. There is so much that they teach us along the way. How to find strength when we feel like we can’t go on and what it is that is really important in life. These are just a couple of things, of which there are many more. The way that they bounce back after each setback as they battle. The joy that they continue to show for life even in the face of adversity. All of this and more will be seen in each child that battles Batten.
This next story has many of the elements that we have talked about so far. Let’s get started as we begin to tell the story about a young lady named Addy. Addy’s story, of course, begins with her parents' story and we will look at things from her mom’s perspective as we begin. It all began as a young adult named Melissa Munch was out socializing with friends and family. It was on that day that she met the man that would one day be her husband. His name was Kevin. There was an immediate attraction between them and they would soon begin to date. The two of them didn’t want to rush into marriage and instead would date for several years. Kevin and Melissa had met in 2001 and would marry in 2007. More often than not, a life together involves wanting to have children and that was the case for Kevin and Melissa. Once married, the couple would want to start a family. They didn’t want a huge one. In fact, two sounded like a good number. Wouldn’t it be nice if they were to have one of each, both a boy and a girl? Melissa would soon conceive after the couple began to try for their first pregnancy. Much to their delight, all would go well as Melissa found herself carrying their first child. Her pregnancy would also go well and there would be no major complications. This would include the delivery. Their first child would be born in 2008 as Melissa would give birth to a baby boy. Kevin had a son and he and Melissa would name their newborn Matthew. From first sight, he was a perfect little man. He had all his fingers and toes and he was happy and healthy.
Looking at baby Matthew for the first time brought great joy to Melissa. This as Matthew’s tiny eyes looked up into hers and also, all around at his new surroundings. You just know that this young couple was so proud and happy at that point in time. This is an event that couples long to experience together. Being a first time mom was everything that Melissa had thought it would be. In fact, it was better than she expected. The entire experience of carrying Matthew and delivering him into this world was amazing and it all seemed effortless. As a matter of fact, it was that very night that Melissa had been saying, “this was so easy, I want like 5 more!” She would hold Matthew non-stop, not wanting to let him go. In her own words she would say that her “heart was so full.” Motherhood for Melissa was everything that she had imagined it would be. Her mom would even tell her to quit holding Matthew so much but it was difficult for her to put him down. Up until that point, she never knew that being a mom could bring such happiness. Kevin and Melissa wouldn’t rush into having another child. They would instead, enjoy some time with their son, and with each other, waiting for a couple of years before trying to have another child. It would be after that period of time that they decided that it was time to try for another child. The experience with Matthew had been wonderful and the couple wanted a playmate for their son, a “buddy” and a “best friend”.
The One Hoped for
It would be a different set of circumstances as Kevin and Melissa attempted to have another baby. As things would turn out, Melissa would have a much more difficult time with getting pregnant. In her words, “God had other plans for me I guess.” The first complication was that as Melissa became pregnant, she would miscarry. This happened twice and it must have been heartbreaking with each occurrence. With this, Melissa would seek the help of a doctor specializing in fertility issues. In vitro fertilization or (IVF) would soon be used in the process, however, a couple of other issues with Melissa’s health would arise before that would take place. One problem was that she was having an issue with blood clotting. The other was that she was found to have a condition called MTHFR (short for methylenetetrahydrofolate reductase). This condition would be difficult to explain as it is new to this writer. One thing that was noticed is that blood clotting can be part of the MTHFR. Let’s just say that among other consequences, having it can be a hindrance to a woman's ability to become pregnant. There are a host of treatment types for the condition. These include the use of hormones, changes in diet, and adding nutritional supplements. Melissa would be treated in this way and would get to the point where it was time to try again. Sadly, Kevin and Melissa’s next attempt at having another child would result in another miscarriage. It was now time to take additional measures and this is when IVF would be used.
Melissa had not given up hope for Matthew having a brother or sister to play with. They would just have to go a different route in order to have another baby. She definitely hadn’t lost her sense of humor, even after all that they had been through. When it came to the IVF procedure, Melissa had this to say, “When the doctor did the egg retrieval I told him ‘find all the pink eggs!’ Because I wanted a little girl so badly. To me, one boy and one girl, was the perfect family!” As I said in the opening, two children seems like a good number and it seems that Melissa would agree. Her wish to have that second child be a girl would come true, but this would take place through a set of difficult circumstances. This would include a challenging pregnancy. The IVF procedure would be successful and Melissa would become pregnant. She was unaware at first but the fact was that twins were conceived. Sadly, one of those babies was lost right away but Melissa’s pregnancy with the other child would continue. This would not be easy for her. There would be hormone shots and many trips to the doctor. Among other complications were frequent headaches and this baby would be considered a high risk pregnancy. There would be many ultrasounds done in the weeks that would follow which would leave the couple with a lot of images of their unborn child. It would be at the twenty week mark that Melissa would find out that she was going to have a girl. Not only that but this baby was healthy and all was well. During one ultrasound, Melissa was able to watch and see every detail of her baby’s heart as the doctor and staff looked on. For her, the experience was just amazing.
After everything that they had been through, there was a feeling of great relief as Kevin and Melissa felt that they were finally in the clear. That second child that they had wanted was finally on the way. To make things even more exciting to Melissa was the fact that she was going to have a girl. Even with the challenges that had occurred along the way, Melissa’s pregnancy would continue and the anticipation would grow as the days passed. Finally, the time for the big event would arrive as Melissa’s daughter was about to enter into the lives of her family. The date of the big event was August the 20th of 2012 and it would take place at Rush Copley Medical Center in Aurora, Illinois. Melissa remembered that it all would take place early in the morning with her baby being born at 7:09 a.m. This proud mamma of two children would deliver her baby normally, although it would take longer than it had with Matthew. She stated that the only issue that would develop in the course of the delivery was that her blood pressure kept dropping. Of course, the medical staff would continue to monitor Melissa during this time. Think about what they had been through with the miscarriages and all of the problems with Melissa’s health. The roller coaster of emotions and the fear that a second child may never come. In her own words, “it was such a fight”, but there she was after the delivery, holding her infant daughter. Melissa’s heart was so full and she was overjoyed as she held her baby girl for the first time.
Here is how Melissa described the experience, “When I finally got to hold her and look at her sweet face, I was so in love and knew my heart was complete. She was so sweet and beautiful and perfect. She was tough from the very beginning and fought her way to arrive on Earth to be with us. It is amazing how you think that you love so much and could not possibly love more. But, the minute that baby is born your heart grows and fills to make room for her. Then you wonder how you ever lived without her.” The couple would name their daughter Addelyn Kay Boggs with her middle name being that of her great grandmother. Addelyn was a very healthy weight when she was born, being 7 pounds and 7 ounces. Addelyn was flawless and perfect in every way. She had all of her fingers and toes and she was covered in brand new baby skin. Melissa could not wait for Matthew to meet his new little sister and for all of them to go home and be a family together. Far from Melissa’s thinking at that point was the consideration of future difficulties. There was only the expectation that a life together with her daughter would bring an abundance of love and memories. She looked forward to all of the events that one might expect to take place.
It’s just a fact that as kids develop, challenges often come as they grow. Health concerns can arise with children and that is often just part of growing up. Some kids will experience more than others but hopefully, the resilient nature of being a child will help carry them through. It seemed that baby Addy would have her challenges right out of the gate so to speak. She would have several issues that would hinder her right away. According to Melissa, Addy had difficulties sleeping as a newborn. In addition, she had a problem with throwing up as she would do it all of the time. Adding to Melissa’s frustration was a lack of cooperation from Addy’s pediatrician. The switch to a new doctor would result in finding that Addy had a milk allergy. On top of that, she also had a very bad case of acid reflux. How uncomfortable this had to have been for baby Addy. The doctor would end up recommending a special formula and would prescribe Prevacid for Addy’s reflux issues. There were other natural remedies used as well. As if that wasn’t enough, Addy also suffered from something called torticollis. This is simply a condition that involves tightness in the muscles of the neck. This will be recognized by the infant tilting his or her neck to one side. It may be caused by the position held by an unborn baby in the womb or the procedure used during delivery. Position changes and stretching exercises can help. In Addy’s case, she would be brought to physical therapy sessions to be treated. Poor Addy, there was more to her situation.
At about four months old, she would be diagnosed with Respiratory Syncytial Virus, or RSV. This virus causes infections in the lungs and the respiratory tract. This would require another course of treatment for Addy, mainly breathing treatments and the use of steroids. Poor Addy would have to sleep in a swing so that she could breathe better. This would be another issue that would inhibit her sleep. The RSV would also cause Addy to have croup and have it often. The problems for the tiny princess would continue to mount but they were the types of things that could be overcome with time, and in the course of her development. Even so, this had to be a trying time for Melissa and Addy too. Melissa speaks to this in part, “It was hard as her mom because I wanted to hold her and snuggle her all the time, the way I did with Matthew when he was a baby, but she threw up all the time. I still held her as much as I could and usually had both of my babies snuggled up on my lap. I was so happy.” Melissa went on to explain that poor Addy would cry a lot because of the pain that she was in. How heartbreaking would that be for a young mom? The only comfort in the situation came from the belief that they would get Addy’s medical issues figured out in time. Even with everything that Addy was going through, she was a happy baby. As expected, she would continue to grow and meet all of her milestones. Through diet and medications and for the most part, they would soon get Addy’s reflux under control.
The Perfect Little Lady
The croup, however, would continue to be a problem and there would also be steady ear infections and bouts with strep throat. Addy would end up having her adenoids removed and she would also get tubes placed in her ears at about ten months. Princess Addy had to be a warrior from a very young age. Such is life at times for children and Addy would show everyone what a resilient little person she can be. In Melissa’s own words, “The ear infections were so bad she ended up with a hole in her eardrum. But, she was the toughest baby and hardly ever complained about her ears. She also had a lot of digestion problems that got better with changing her diet. We used to joke that she was so tough because of all the steroids she was on.” In spite of all that Addy had been through as an infant and toddler, she was the happiest of little girls. Melissa would go on to say that she was funny and very loving towards everyone that she met. No one was a stranger to Addy and everyone that she would meet would fall in love with her. Addy was friendly like her big brother was but she was even more outgoing. She would grow to be a real character and somebody that loved life and those around her. Addy had an ability from early on to make other people laugh. She just had a wonderful sense of humor. Her interests were typical for a high energy little lady. Addy loved to sing and dance and she loved doing crafts. She seemed to be unaffected by her lack of sleep, having all the energy in the world. Other than what she was facing from a medical standpoint, Addy would grow into what most would consider to be a typical little girl. A very charming and adorable one at that!
Addy was growing to be a remarkable little lady. Yes, she had more than her share of issues medically but these were the types of things that can be overcome in time. She did have the challenges with her stomach and with her ears but that had been it. The issues for Addy had been difficult for Melissa. They had left Melissa’s life with challenges not experienced by the majority of us. Melissa’s life was full, with teaching full-time and parenting her two children. To make matters even more difficult would be the fact that her marriage had failed. It is just the way things go in life at times. Two people meet and fall in love but then grow apart. This would happen when Addy was about 2 years old and Matthew was about 6 years of age. Although Melissa and Kevin both loved their children, their lives had gone in separate directions. Melissa felt that for the sake of the children, it was best to go it alone for at least a time. Even though it was felt to be the best thing for all concerned, the separation and divorce would be difficult on everyone. Even with this, life would go on. It always does. Addy would continue to grow and reach each milestone as expected. Melissa said that her daughter was, and still is, a very bright girl. She would learn her letter and numbers, and her colors. Addy loved to paint and as a mom who was an art teacher, Melissa loved to see this. As was already stated, Addy loved to dance. At age 3, she started to dance with the dance company in town. Addy loved it so much and she was a beautiful tiny dancer.
Melissa said that Addy loved the stage and she was a natural in that environment. She wasn’t one bit nervous as she performed in front of an audience. The interaction between Addy, her friends, and her teacher was something that she treasured. Addy was an artist and a performer in the making. Her babysitter was a good friend of Melissa’s and she and Addy would spend a lot of time crafting together. Addy loved this! This princess was growing and learning by leaps and bounds. Melissa stated that she was thriving and was so happy. Addy was always on the go and she had such a wonderful little sense of humor. She was just so funny. There was so much potential for her future development and so much to look forward to in Addy. One might expect that along with the things looked forward to would come additional challenges in life. Those are normal occurrences as we grow. Hopefully, those things would also be overcome. Another issue would arise. Addy started to complain about headaches at around the age of 4 years. She complained that her eyes were hurting and the family noticed that she was standing close to the television. The natural assumption would be that her eyes hurt because she was watching TV from so close of a distance. Was there something going on with Addy’s eyesight? Was that the actual reason why she was so close to the TV and also experiencing headaches? One thing that was obvious to Melissa was that Addy’s eyesight needed to be checked. She may have needed a prescription for glasses, so Melissa took her daughter to see the doctor at the local Target store.
After examining Addy, the eye doctor stated that she was color blind and she also had an astigmatism. Addy was prescribed glasses. Melissa said that she was shocked about the color blindness because Addy knew her colors. Being an art teacher and painting together, Melissa and Addy would talk about the various colors that were used. Melissa would test Addy when they got home and she could see all of the colors. However, Addy could not see the numbers within the color blind test. Melissa could tell that something wasn’t right. This was taking place in the Spring of 2017. More questions would arise as Addy began kindergarten in the Fall of that same year. She would turn 5 years old a week after starting with her class. Again, Addy showed herself to be a bright little girl who could already read words and who knew her numbers. She also knew shapes and could do simple math. Melissa said that she was well behaved and worked hard at learning. Addy was a little jewel and she had a lot of friends. Kindergarten was only a half day program so she would also attend preschool where she was loved as well. Addy was still getting close to the TV and she was also moving items closer to her face in order to see them. On top of this, she had a habit of tripping a lot. This was being chalked up to issues related to her ear drum and also being a little clumsy. Visible to her teacher was the fact that Addy was having to lean closer to her school work in order to see it. Her teacher also had to move her closer to the board in class.
As time moved forward, Melissa’s concern would continue to increase. One incident in particular was troubling to her and she shares the details here, “What really set up a red flag for me was when Addy’s name was chosen as a winner of a contest. To show the winner, her teacher put her name on the board and Addy did not respond at all. She knew how to spell and write her name. Her teacher was very concerned and said she honestly didn’t think Addy could see it! At this point, I knew I wasn't being an overprotective, worrying mom.” Melissa knew that something was wrong. This all would have been difficult under any set of circumstances but even more so had Melissa been going through this alone. Imagine, with a full-time work schedule and all. I’ll continue with the story shortly but let me stop for a minute to explain. In actuality, Melissa had a friend by her side as Addy’s situation would develop. Really, someone that was, and still is, much more than a friend to her. Matt Becker had been friends with Melissa for years. In fact, they had worked together during that time. Both Matt and Melissa had attended Birthday parties for each other's kids and Melissa had painted murals in each of the rooms of Matt’s boys. Of course, each was committed to their own marriage partner and their interest in each other was only in friendship. That would eventually change. Just as Melissa would go through a divorce, so had Matt. As each one became single, they would increase the time that was spent together and their relationship would change as a result.
It was no accident that when Melissa needed someone like Matt in her life that he was there for her. They went from friends to much more at a critical time. Melissa explains, “He was always someone I could count on and he always made me smile. He listens and doesn’t judge and always has a hug. We started hanging out with all our kids together and it was fun and crazy. Matt is an amazing dad and makes everything fun. He is the dad who actually plays with his kids at the park. We started dating and it all just came natural. Our favorite saying was ‘life is good’ because finally, it was. We were happy and healthy and loved life together.” The couple would buy a house in 2015 and would marry the year after that. As things would develop with Addy, Melissa would have her friend and life partner there by her side. Melissa described what life was like at that point, “Life was fun and crazy and loud and busy and we were very much in love. Matt accepted my kids and loved them as his own. He told me he always wanted a girl and now he got to help raise Addy. They had a great bond. He drove her to daycare and home everyday and they had fun singing songs and playing games. They loved fishing together.” This was important to everyone because as time continued, the concerns over Addy’s situation would deepen. Melissa’s search for answers would continue and her next step would be to take Addy to see another eye doctor. Unfortunately, what would happen next is typical when health professionals aren’t compassionate or, at the top of their game so to speak.
The Search for an Answer
While at the next doctor, the nurse put the letters up for Addy’s eye exam and she was not able to see them. Even as she would increase the size of the letters. The nurse would ask if Addy even knew her letters to which Melissa would reply, “yes, she can read!” Why would she even ask such a question? The nurse kept trying to get Addy to answer, all the while, Melissa’s heart was breaking because she knew that Addy was trying her best. The nurse went so far as to offer Addy a sticker if she would answer. Both the nurse and the doctor thought that Addy’s not telling them what the letters were was a behavioral issue. The doctor would simply change Addy’s prescription a little and she reminded Addy to not hold her tablet too close to her face. This is what she felt was causing the frequent headaches. Both Addy and Melissa left being fully frustrated with what had occurred. Melissa’s frustration led to resolve as she moved on to the next level. That was to take Addy to a pediatric ophthalmologist. This would be a big step in determining what was taking place with Addy. It seemed to Melissa that Addy’s eyesight was getting progressively worse and that made the need to reach out even more urgent. Poor Addy could not see her own school work. Can we understand how frustrating that would be for a young girl or boy to have that change taking place in their eyesight? It would be frustrating and perhaps, frightening as well.
The appointment would be made and both Melissa and Matt would attend with Addy. As they arrived, there would be an instant connection between Addy and the ophthalmologist, Dr. Davis. This doctor would listen as things were explained to her. Dr. Davis believed Addy when she told her that she couldn’t see the letters of the test. This doctor would look into this further. She didn’t push Addy but instead, scanned Addy’s eyes. Her mom and stepdad would be shocked to learn what the cause of Addy’s vision problem was. In Melissa’s own words, “She immediately pulled me aside and said ‘she has no retinas, they are gone, no wonder she can't see!’ She explained that it was like Addy was holding her fists in front of her eyes and trying to see with a big black spot in the middle of everything.” No wonder she had been struggling to see the television and the board in her classroom. Addy had still been able to see out of her peripheral vision and that is why she would turn and tip her head when she was reading or drawing. How completely heartbreaking it must have been to learn what was taking place. The doctor informed Melissa that Addy was legally blind and would never drive a car. Something that was looked forward to was all at once, not to be. What other things would Addy be unable to do in her lifetime? The realization brought Melissa to tears. She felt horrible, now knowing that Addy’s vision was that bad but not having realized it before. Matt was equally upset ... both were in shock.
Dr. Davis would consult with a Retina specialist and he would be in agreement. Although he thought that it would be unlikely, that doctor suggested that Addy may have Best disease. Best (Best vitelliform macular dystrophy) is a disease that affects the retinas. The only thing is that the onset for Best would normally be much later in life. It was unlikely that Addy had that going on. Finding out what was taking place with Addy’s vision would not be easy. Melissa said that the next step would be to have Addy evaluated by the ophthalmologist at Lurie Children’s Hospital in Chicago. The staff at Dr. Davis’ office would assist the Beckers in getting an appointment for Addy in Chicago. Understandably, Melissa cried the entire time as they returned home. The thought of how limited Addy’s life would be because of her lack of vision was what brought her to tears. If only that was to be the worst of what would come. Addy would soon meet the ophthalmology team at Lurie in Chicago and with her this time, would be her mom and her dad, Kevin. The staff would perform a lot of testing and would diagnose Addy as having 20/200 eyesight. Just like Dr. Davis had shared, the team at Lurie stated that Addy was legally blind. They suggested that Addy’s family start purchasing equipment to help her and they recommended that Addy connect with a vision itinerant. The itinerant’s job would be to help identify what Addy’s needs were and how to go about addressing her situation.
The doctors could see what was happening with Addy’s vision but they had no concrete answers as to why she was losing her eyesight. They didn’t believe that she had Best disease but they didn’t have an alternate answer. They decided to do more testing while Addy was under anesthesia. Soon after conducting the tests, the doctor would draw the preliminary conclusion that Addy had cone/rod dystrophy. The doctor was still not sure and recommended genetic testing to help in the search for an answer. It was also suggested that Addy start learning Braille. She had been using a print enlarger and reading very large print only by then. Addy was in the 1st grade by this time and Melissa would ask for an IEP to be done on her daughter’s behalf. Also, as had been recommended, Melissa would push for time spent with a vision itinerant. As would be expected, both of Addy’s parents, Kevin and Melissa, would meet with a genetic team. They would go over each of their medical histories and both would consent to having blood drawn for testing. It had been explained during their meeting that the answer as to what was taking place with Addy may or may not be found. Even so, they had to proceed. Unfortunately, in what is too often the case, the insurance company would put up a fight when it came to paying for the testing. Kevin and Melissa would eventually succeed and the blood draw would take place. As all of this was happening, Addy’s eyesight was continuing to deteriorate.
Both households would have to wait a long time for the results of the test and in the meantime, Addy’s vision had descended to 20/400. Her prescription for corrective lenses had been changed once again. Melissa needed an answer and she needed one soon. The wait had seemed like forever and she decided to give the genetics team a call. What she would find out once she did was that someone had dropped the ball, so to speak. The person that the family had originally met with was no longer there and Melissa was given a new person to talk to. Once she was connected, Melissa was asked whether or not she had decided to go through with the testing. What? Of course she had and she should have had the results back by then. Melissa said that she was furious and who could blame her? This kind of thing should never happen but in fact, it does. Finally, the blood work was sent in for testing. So much time had been wasted as Addy was completing her 1st grade year. It would be the summer of 2019 that Melissa would get a call from the genetics department at Lurie. Up to that point, Addy had been working with her vision itinerant and she was also taking braille classes. The genetic counselor said to Melissa that they had a probable match and she asked Melissa if she had ever heard of Batten disease. Most people will not have heard of Batten unless they know someone who has been diagnosed with it and Melissa had not.
She was told that they could not be 100 percent sure of the diagnosis at this point without more testing being done on her and Kevin. Even so, they were confident enough about the results that Melissa was encouraged to look up information on the disease. The counselor stated that she was there to answer any questions that Melissa may have and then the phone call ended. Melissa knew from the tone of her voice that whatever it was, Batten was pretty bad. However, at that time, she just expected that the disease would only cause Addy to go completely blind. In Melissa’s own words, “Honestly, that was the worst thing I could think of.” Complete blindness is something that a person can adapt to as they continue to live their life. Certainly, there would be challenges along the way even if that was the only issue they would face together. There was, however, much more taking place with Addy than Melissa could know about at that point. She did what any other parent would have done upon hanging up. She started to research Batten disease over the internet and what she read brought her to tears. The more she read, the harder she cried. The hardest thing for her to discover was that what Addy was facing was a fatal disease. Melissa quit reading and began to pray. How could this be happening? Other than the issue with Addy’s eyesight, there were no other symptoms that she was displaying. None that would be related to Batten disease.
Hoping for Hope
Melissa was certain that Addy would be shown to be in the clear once she and Kevin were tested. Melissa shares, “I kept thinking how hard I worked to have Addy and that there is no way anyone was going to take her from me.” Melissa was so sure that the Batten diagnosis was a mistake that she didn’t want to bother her mom with the news. Although she wanted to tell her, her mom had been fighting her own battle with cancer at the time. Her certainty concerning the false diagnosis kept her from adding on an additional burden. The more that she and Matt read about Batten, the more certain they became that this diagnosis was false. Melissa felt that there was still hope as she and Kevin went to get tested. That summer, hope would turn into shock and complete dismay as Melissa received the news, Addylen Kay had CLN3, the Juvenile variant of Batten disease. The problems that were occuring with Addy’s vision were perhaps the most common early symptom of the disorder. Melissa talks about her response with the following, “Rachel (the genetic counselor) called to tell me. I was sobbing and asked her, could there be any chance this was wrong and she told me no. After a few days of shock and disbelief and snuggling Addy every single second I could, I decided it was time to start fighting.” Almost without exception, every story includes a transformation that takes place on behalf of those who receive the news concerning their child. Things such a shock and discouragement give way to renewed strength and a will to help a child battle. All the while the heartache continues.
Melissa would find the will to fight for Addy but it would be without any encouragement from the genetics team. Both Kevin and Melissa, and each of their spouses, would meet with the staff at genetics department to discuss their findings concerning Addy and Batten disease. They told Melissa and the others that there wasn’t much that they could do for Addy at Lurie hospital. They recommended that they take Addy home and enjoy every minute that they had left with her. There was no cure and there was not much that could be done. Can you imagine being told something like that? Melissa describes what her reaction was with this, “It was crushing that these world-renown specialists had nothing to offer to save our daughter’s life. They even joked, ‘Don’t worry about little things like making her brush her teeth.’” What? How absolutely out of line was that comment. Melissa continued, “They said we can call when she starts having seizures to get meds to help with that. They also had us meet with palliative care and I had no idea what this was. They handed me a brochure and I scanned it and thought wow, they really don’t want to even try to help Addy.” While Melissa could have given up, right then and there, she didn’t waiver in her resolve. She would not accept this give up and take the time that you have left kind of attitude. Melissa was going to help Addy in finding a cure or at least, a form of treatment. She would help her daughter fight this disease by finding those that can help!
To just accept that Addy would succumb to Batten disease was unacceptable. Melissa further explained her feelings, “It was so unfair that this sweet, loving, funny, kind, big hearted, and amazing girl was dealt this awful hand in life. I wanted to squeeze her and hug her and love on her and never let her go. I felt so mad and felt my heart literally breaking for my sweet girl. A parent should be able to protect their kids and I couldn’t do that. But, I wasn’t going to listen to these doctors and I wasn’t giving up on my girl!” Melissa felt in her heart that God wanted Addy here and that he had plans for her. Hope still remained and Melissa would cling to that. She does so to this day and says as much here, “I still hold on to hope that we are going to find a cure and she is going to help lead the way. Addy is the toughest girl I know and she is a fighter.” Addy is a fighter and Melissa would do anything to fight for her. She is not doing so alone but has the support and commitment of a loving husband. This is in Addy’s stepfather Matt. He would be there, right by Melissa’s side as everything was developing, even attending every doctor appointment in which he was able. He cried and hugged Melissa because he truly loved Addy. Matt did his best to be the rock of the family even though the diagnosis had been devastating to him as well. He and Addy had a genuine bond and knowing her plight was very traumatic. This was not something that Matt had in mind as he took on this role of stepfather but he willingly accepted the part he had to play.
Melissa shared an exchange between her and Matt that tells us a lot about his character, “I told him, I understood if he wanted to leave because this was not what he signed up for. He looked at me like I was crazy and said he wasn’t going anywhere ... It takes a special person to help raise someone else’s kids. It takes the biggest and kindest heart in the world to raise someone else's kid with special needs.” With Matt, there was no “your kids” and “my kids”. There were only “our kids” and Addy was, and is, a very special part of that group. There would be some immediate disappointments as Melissa searched for a way to help her daughter battle Batten. There would also be some things that would provide hope for the future. The doctors at Lurie hospital had provided Melissa with a few names of other doctors that could help with Addy. Doctors which had experience with Batten and who could give Melissa more guidance about the disease. In addition, Melissa would begin to tell their story over social media and would reach out to others in the Batten community. This would lead to a nurse from Rush University Medical Center in Chicago reaching out to Melissa. Well-known to many in the Batten community is Dr. Berry-Kravis and this nurse was associated with that doctor. They wanted to know if Melissa was interested in meeting them in Chicago and of course, she would say yes. While they were there, the doctor had some testing done on Addy.
Also well-known in the Batten community is a greatly respected physician named Dr. Emily of Nationwide Hospital in Ohio. Dr. Berry-Kravis had been in contact with her and would talk to Dr. Emily about Addy. At that time, Dr. Emily was involved with the only clinical trial available for kids with CLN3 Batten disease. Understandably, Melissa really wanted her to meet Addy. This was great news and they would definitely make the trip! It would be a long day and as one would expect, Dr. Emily and her team would love Addy. Melissa stated that she would be run through an entire gamut of testing for the UBDRS (Unified Batten Disease Rating Scale). This was done, in large part, to determine how well Addy would do in gene replacement therapy. They had finished the 1st round of the trial and would soon be starting the next. The timing of all of this was not the best as this was taking place in January of 2020. The pandemic that would shut down the world would also interfere with Addy’s ability to enter the trial. This is because getting a vaccine for Covid-19 would become the priority for the pharmaceutical industry. The trial was put on hold. Can we imagine the level of disappointment as this took place. Melissa would continue to reach out to the doctors at Rush and Nationwide, as well as, searching on her own for new trials. To this day, she has hope that Addy will enter a clinical trial soon. If there is a trial to be found, Melissa will find it. Thankfully, the bulk of the burden related to the pandemic seems to be behind us now.
Family life can be difficult for a variety of reasons as we travel along life’s way. For a family that has a child with something like Batten disease, the challenges are so much greater. Life doesn’t stop for Batten. It just piles more of a burden on those who face the struggle that happens daily. I’ve been repetitive in stating that having a child that has something like Batten disease produces a type of love that is like none other. A bond develops with that child that is so incredibly strong. For Melissa and those that love Addy, her fight is their fight and they willingly do what is necessary. There will be good days, as well as bad days for sure. Everyone has to slow things down a bit because of the loss of Addy’s eyesight and extra equipment has to be brought on family outings. Also, people have to describe to Addy the things that she no longer can see. Think of her frustrations as she can no longer do all the things she once could. Addy is learning to be as self-sufficient as possible but she needs help with many different tasks. Melissa says that there are mood swings that have to be dealt with and they are careful to choose their battles on any given day. More than with any other person, Addy takes her frustrations out on her mom. Melissa explains, “I am her safe place and I get that she needs to vent and get it out but it is so hard to watch my sweet, cuddly, and kind baby turn into a yelling tantrum mess.” The relationship that Melissa had sought with her daughter has been greatly complicated by Batten. She herself has experienced feelings of anger and sadness.
A Family Battle
There have been times of confusion and the heartbreak is constant. All of this is, no doubt, mingled with the intense kind of love that we have talked about. It was difficult when Melissa had to explain things to Addy’s older brother Matthew. He had always been Addy’s protector as her brother and as an older sibling. Matthew and Addy had been through the divorce of their parents together and they came into a new blended family together as well. They were each other’s constant while many changes had taken place. To know what the future would hold for his sister would also be devastating to Matthew as the details of Addy’s condition were explained to him. Melissa explained that young Matthew is a worrier by nature and she wanted to keep him safe from knowing everything at first. As things would progress and Matthew’s questions became more frequent, it became necessary to give him the complete truth. A question like, “will Addy die someday” had to be answered. Melissa talks about how she felt as she answered Matthew’s question, “My heart literally ripped in pieces when I had to tell him yes. He then asked me when and I said I couldn’t know for sure but most of the time it was in a person’s 20s or 30s. His face said it all and I felt like the worst mom in the world because I could not take this heartbreak away from my kids.” Matthew has days when he is frustrated and angry with Addy and on other days, he tries to be helpful. Melissa explains that Matthew has all of the issues with Addy going on in addition to those associated with being a teenager.
Really, he is doing the best that a young fellow his age could be expected to and he does love his little sister to the fullest extent. Addy also has the love of her two step-brothers. They are Jimmy who is 10, and Ladon who is 9. For them, understanding the changes in Addy may be more difficult because their time is split between two households. That being their dad’s and their mom’s. In addition to the concern that they have for their step-sister is the challenge of showing her patience and understanding. All in all, Melissa thinks that the greater challenge lies with Matthew and she explains that here, “I think it must be hardest for Matthew because he is the only person in her life that is always with her. He wants so bad to ‘fix her’ and he can’t. He told me once ‘Mom I just want my sister back”’ It has been very recent that Addy has begun to have issues with seizures. These do not necessarily occur at the onset of Juvenile Batten disease and Addy would experience her first one at age 8. Every parent is alarmed and even terrified by the occurrence of seizures. This is another reminder that they are facing a monster with Batten. Addy’s family now has to make sure that she is never left alone and every person that is with her needs to be educated on her condition. One of the sweetest things to observe is the bond that has taken place between Addy and her new service dog. Addy adores him and he is already having an impact on her life. His name is Brody and he is amazing with Addy!
Addy’s demeanor changes instantly when he is around her. Can you imagine what it is like to have the affection of man’s best friend when you are a young girl in Addy’s situation? Melissa says that the interaction between the two of them is something to watch. I have no doubt that Brody is a huge help and comfort to Miss Addy. It is so hard to find a silver lining in a situation like what this young lady is facing. I’m not looking for one. I do know that there are happy times along with the sad. There are sweet things that happen with Addy and there are precious memories being made. The connection between Brody and his girl would provide some of those but there are many sweet interactions that take place between Addy and her family. Matt is a great step-dad for sure. One case in point is when a daughter-daddy dance that Addy was looking forward to got cancelled. Stupid Covid-19 was again to blame. She was so disappointed and what did Matt do? He had both he and Addy dress for the event anyway and … they danced! Matt and Melissa both know the value of time spent together. Recently, the family packed their bags and headed to muggy buggy (and also the great state of) Florida to go to Disney World. Everyone had a great time, albeit while being a little on the sweaty side. More memories for a lifetime spent together. Addy is doing the very best that she can. She is no doubt an amazing young lady. She receives so much encouragement to do her very best from everyone that loves her and she continues to grow as a person. Addy is able to read and type Braille, which she does at lighting speed. Her education continues!
Just as we have talked about, and as one might guess, there are good days and bad days at the Becker house. Melissa explains, “Somedays I feel like we can conquer the world and we are going to kick Batten’s ass. Other days I feel defeated, sad, and exhausted. I feel mad for what this has taken away from Addy and our whole family but I will do anything for my girl so we keep pushing on everyday.” Melissa’s expectations for the future have changed but she still has hope for a future with Addy. Oh, that success in achieving the advent of a successful trial and treatment would come. There is hope and encouragement by what has already taken place. CLN3, Juvenile Batten disease, is one of the more common variants of Batten. We need a cure for every young warrior that battles Batten but so many that battle have the CLN3 variant. What a difference it will make when researchers find the success that they are working towards. Just as we talked about in general as we began this story, Melissa had things that she looked forward to as she held Addy for the first time, “When I had a baby girl I dreamed of shopping and coffee dates. I dreamed of recitals and dances. I dreamed of getting our nails done and doing her hair. I dreamed of long conversations about friends, boys, and life. We still do some of these things. It has been hard to watch some of these slip away.” For example, Addy had to quit her involvement in dance and that was so heartbreaking for both her and Melissa.
Things as simple as getting a driver’s license or as important as marriage … they are either in question, or not possible. What is certain though is that Addy’s life will affect the members of her family, and many others, like no one else’s can. Life is different for this family but in many ways, the love that is shared is deeper than could be experienced otherwise. The bond developed with someone like Addy could never be broken because it is stronger than most any other. Love mixed with heartache creates the type of love that we have talked about. This creates a will to fight alongside the one that battles. Most parents will tell you that they would trade places with the one their Batten warrior if they could. Most would give anything. Melissa shares more of her feelings, “I will fight with every ounce of my being for a miracle for my baby girl. The challenges of this disease are something I would not wish upon my worst enemy. To know what the future holds and not be able to change it for a child that does not deserve it is the worst kind of torture I can imagine. To watch your own baby slowly slip away and regress and lose things is pain that is indescribable.”
Again, I wouldn’t try to place a silver lining in Addy’s story but there are many sweet details to take notice of. I am just an outside observer and not someone who has experienced the Batten journey first hand. Sometimes, I do think that you can see certain things from the outside looking in. Those things that may not be visible while in the middle of the fight. These families and especially these children and young people .... well, there is something special there. The level of sacrifice and commitment needed from the family members. The strain on a person’s schedule, the sleepless nights, and endless appointments. Whatever is needed is given. So sacrificial is the love that is poured out on the ones that battle. Then there are these kids and their resilient nature. They always bounce back from adversity for as long as they are able. In this and in other ways, they teach us how to handle adversity. So often, they just melt us on the inside. They teach us what the things are that are important in life. It’s not the material items that we own! Also, these young warriors help build a type of character in people that is not possessed by everyone. I could go on but I think you know what I am talking about. This is another very special family with a story to tell. It’s always a privilege to be able to take part in doing so. Thanks to Melissa for her patience in working with me and for allowing me the opportunity. Addy, you are another special one and a little beauty as well. I am so glad that we could do your story. Thanks everyone for taking the time!
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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...