“To say our world was shattered doesn't even come close to capturing how we felt. Visions of Amelia growing up with her cousins … gone. The hope of watching her play sports, learning to read, having her climb into bed with us to snuggle, dancing around the living room while watching the same Disney movie for the thousandth time … gone.”
It takes place in many households across America, and in places from beyond. There are stories that are created as families grow and bonds develop. Two people meet and fall in love. Sometimes, things start off as just a friendship but then, feelings deepen and the relationship grows. Marriage comes and life continues. Generations pass as a family comes from that union and as a result, the size of the kinship continues to grow. Time passes so quickly and before you know it, there are cousins, and nephews, and nieces. There are uncles and aunts, and let’s not forget about grandparents. That, after all, is how the entire thing got started. Families function best when there is love involved in everything that takes place. A solid support structure evolves and many memories are made as time is spent together. Cousins often become as close as brothers and sisters. Time is spent together on holidays and special events like graduations and weddings. Family reunions happen as the years go by. You get the idea. This is much of what life is all about and that is what it was supposed to be like. Celebrating family and being together!
And yet, there are struggles that often come along. It is often the case that trouble strikes in a family. Perhaps it’s a wayward child (or adult) that we are talking about. Health problems always affect families at some point. When it happens in a close knit family, others struggle along with those who are suffering. Sometimes, a child is born that will have special needs. This can initially be very discouraging and traumatic to new parents. I suppose that it can depend upon the severity of the child’s condition. People, in general, tend to adjust in time. The initial disappointment gives way to a love that cannot be suppressed. I have often said that with an increased need for care comes an increased bond with a child. Depending on the situation, and I suppose the child’s disposition, the extra challenges can bring with them and increase of joy and adoration. That person that requires all of that extra love and attention gains favored status. That status may be given to that special child by all of the other members of the family. That is the way that it should be. Am I stating the obvious here? Please bear with me!
My son Benjamin was born with special needs and his story is a big part of mine. People who have read the stories that I write know who my son is. Benjamin was born third in line behind two big brothers. It was obvious to us soon after he was born that not all was right with our number three son. We knew that this was related to family history involving a genetic disorder. He did not reach all of his milestones and he would, in fact have developmental delays. In addition to the delays that are still part of his condition, Benjamin has a seizure disorder for which he currently takes the drug named Keppra. Benjamin also has autism and this is perhaps the most prominent part of his condition. Benjamin is autistic. For a person that is obviously quite different in appearance, Benjamin is also very attractive. The best part is that he has a very sweet disposition and his mannerisms can be quite humorous. Benjamin has a most favored person status at our house and so it should be. My son will never achieve what others will but his life has value beyond any measure that can be counted. He is special and I am so glad that he is part of my life.
The sensitivity that I have towards my son’s life has lent itself to a love of others who have special needs. That sensitivity to people with special needs lends itself to those who come to their families having a rare disease such as Batten. I first had to be made aware but that is all that it took. I am always careful when drawing comparisons to a family that battles Batten. I acknowledge that the things that these families face are far more difficult than anything we have experienced with Benjamin. The stories that I have written about those who battle Batten have changed my focus and my perspective about life. This started with the life of one little girl and it has intensified with each family that I have been allowed to write about. These families’ stories can have a profound effect on any who take notice. I have been affected deeply many times by having the opportunity to tell their stories to others. What would it be like for you if you pored over the details of people’s journeys with Batten? Each story is special for different reasons although there are similarities between the journeys. This next story is about a growing family. They are all on a journey together because of the close-knitness that exists between them. Whether living in the same town or miles away from home, each one has depth of feeling and a profound love for one very special warrior princess. As is often the case, the story begins with two people that meet and fall in love. That’s the way that it should be and that is the way that this story begins. Let's back up a little bit though!
This story could be taking place in any city in America. In fact, it’s the kind of story that often does. Too often. This particular one begins in the surroundings of the Pacific Northwest, and in the state Washington to be exact. Graham, Washington, was once a sleepy little town but like a lot of cities in the Northwest, it has grown. As Jerry and Kris Bonagofsky raised a family, they would do so from their home in Graham. It is true that there is no place like home and this home would stay theirs even until this day. They had three daughters and the Bonagofskys were proud of each one of them. They loved names that started with the letter “J” and so their daughters would be named appropriately. Jennifer was the oldest and she was followed by her two sisters, Jessica and Julia. This story is about a family but it surrounds the life of Jennifer. It is true though that the entire family would continue to be part of the whole. This family’s story was typical in many ways and one thing was for sure, mom and dad loved each other and they loved their three daughters. There were uncles and aunts, and nieces and nephews. Jennifer was surrounded by family at an early age and having a family of her own would one day be part of what she saw for her future. Not only were there her two sisters but there were many cousins too. Jennifer’s mom did daycare for both neighbors and employees of the local school district. Caring for children was something that Jennifer was exposed to early and it was something that appealed to her.
Meant For Each Other
Jennifer was aware from a very young age that she wanted children of her own. She thought that she would want four children at a minimum but Jennifer felt that she would want to have even more than that. Being around other children not only shaped her desires for her future personally. It also had an impact on what she wanted to do professionally. Jennifer wanted to teach. A mom and a teacher, those were her goals from an early age. Growing up in her home and as part of a family, Jennifer continued to be influenced by her surroundings. She loved school and Jennifer loved music as well. This would not only help shape her future but it would also bring her into contact with a person that would one day be her life partner. Let me not get ahead of myself though. It was the year 1994 and Jennifer was attending junior high school. In addition to her studies, she was participating in the school band. Many of her friends were fellow band members and it was through them that she met a boy named Philip. Philip and his family had lived in a city named Goose Creek in the state of South Carolina but had moved to Washington state in 1994. Moving with Philip was his dad and mom, Sonny and Esther. Philip also had two sisters that were his senior. Their names were Joanne and Althea.
“Two band nerds,” as Jennifer referred to herself and Philip, they started hanging out together because of mutual friends. Philip was a percussionist and Jennifer played the clarinet. Jennifer said that it would be over the next several years that she and Philip would become really close friends. This happened as they moved to the next grade level together. They would both attend Bethel High School together and their friendship would continue to grow into one that was very close. Philip and Jennifer would continue to perform together with the school band, doing so at both football and and basketball games. Jennifer said that the memories of performing together include band trips taken to places like Canada and Disneyland. Both her and Philip were focused on their futures as their friendship became increasingly close. Jennifer described to me what their daily interaction was like and she also described the growth of the relationship with the following, “We tied up the phone lines every evening on the phone and wrote letters back and forth, passing them between classes. We didn’t officially start dating until after our senior year in high school. We had attended the senior prom together as friends, but toward the end of the school year a deeper relationship was forming.”
A friendship that began in junior high, continued all the way through high school. Things would not end there. Both Philip and Jennifer had plans for the future and their plans included a family and a college education. All of the notes handed to each other at school and time spent on the phone. This time spent had to include details about what each of them wanted and it would soon be clear that they wanted their future to include each other. Philip started attending Pacific Lutheran University in Tacoma, in 1998. His plans were to gain a degree in communications that had an emphasis on print journalism. Jennifer would attend Pierce College in nearby Steilacoom, Washington, while she continued to live at home. Her desire was still to teach after college and she would one day achieve that goal. After two years at Pierce, Jennifer transferred to Pacific Lutheran where she continued her education. Both Philip and Jennifer would graduate together in 2002, each gaining their bachelor’s degree. The pieces of the picture that would make up their future were coming together nicely. It would appear that this couple was focused when it came to mapping out their future and that is a good thing. Marriage was definitely in their plans at this point and they started to put those plans into place after their graduation. It was in 2003, after becoming engaged to one another, that Philip and Jennifer found an apartment in Puyallup, Washington. They would marry in 2004 in front of a crowd made up of friends and family. It wasn’t a fancy wedding but it was perfect. There was plenty of food, dancing, and fun. They were together in marriage and they were also together with family. Things were just as they should be.
It was 2005 when Philip and Jennifer bought their first home in Spanaway, Washington. Jennifer stated that it was a small one-story home in a relatively quiet neighborhood. They were just starting their life together and together, they welcomed a new family member into their home. It was a little Bichon Frise puppy who they named Oliver. The couple stayed close to family both in distance and in time spent together but they decided that it was best to wait to have children of their own. They felt that they had “plenty of time” to start a family as they were only twenty-four years old at the time. Philip and Jennifer wanted to be established in a career and also wanted to be financially stable. They had put together a solid plan and they would carry it out with care. Taking the time to attend college would pay off for both of them as their education help them attain the positions that they sought after. Philip started working at a local newspaper, The Puyallup Herald. Philip would work both as a reporter and as a photographer. Jennifer gained a position as a special education teacher at Harbor Heights Elementary School in Gig Harbor, Washington. I can only imagine that both of their families were very proud of each of them and they were excited for what the future held for them as a couple.
Time passes and families grow as siblings find their life partners. Kids come as marriages grow and memories of being together as a growing family start to be formed. Philip and Jennifer had both become established in their chosen career fields, both being at it for close to a decade. It was time to start working on having the family that they both desired but that needed to be approached with caution. You see, Jennifer is a Type I diabetic. Pregnancy can always bring with it complications for an expectant mother. You can only imagine that blood sugar levels that are not well controlled during pregnancy can bring with it complications that are detrimental. Jennifer had a lot of experience with issues related to diabetes as she had been diagnosed when she was only four years old. For those not already aware, there is a test called the A1C that is done regularly to check how well a diabetic’s body is managing blood sugar levels. Jennifer knew that her A1C needed to be in good condition for pregnancy. This lady that wanted to be a mom was an educated person who was also educating in life. Here is what she said about the need for caution and the actions that she took as a result, “I knew we needed to go about this strategically and with everything in order. I began working with my endocrinologist on getting a continuous glucose monitor to pair with my insulin pump. The hope was to get better control of my diabetes and lower my A1C for pregnancy. I believe this was back in 2013. After a battle with insurance, I was finally approved for a continuous glucose monitor and was able to lower and maintain my average sugar levels at a range that was safe for pregnancy. We got the green light.”
Jennifer’s history with diabetes had proven to be an obstacle for her in becoming an expectant mother but there would be another obstacle altogether. She explains in brief with the following, “The ironic thing about this journey is that I always assumed that my diabetes would be the biggest issue regarding pregnancy. This was not the case at all! We just couldn’t get pregnant.” Jennifer went on to say that her and Philip felt panicked over the situation as at this time, they were both thirty-five years of age. They had been careful in planning their family in order to give their future children the very best, and now this happens. Just like most anyone would, the couple sought help from medical professionals to determine what was hindering them. Philip and Jennifer wound up at Seattle Reproductive Medicine where they would perform all the usual types of testing. This came as a large out-of-pocket expense. Jennifer stated that they actually spent “tons of money.” This would testify to just how much they wanted a baby at this point. The tests that were run determined that Jennifer had a blocked fallopian tube and that she also had a low egg reserve. She used words like devastated and crushed to describe how they felt upon being given this news. Jennifer went on further to say what she was thinking, “It felt as though I was broken and defective. Why can’t my body do what everyone else’s seems to do so easily and naturally?”
Problems in Pregnancy
There were siblings in the family that already had children of their own. Philip had a nephew that had been born in 1994 and Jennifer’s younger sister Julia had already had two kids. Allison had been born in 2010 and Jakob in 2013. Certainly, Philip and Jennifer were happy for their extended family but they dearly wanted to have a child of their own. They had wanted to experience the challenges and the joy that comes with parenting. Remember, Jennifer had wanted multiple children and yet, they were faced with this obstacle. One that was even a larger challenge than the issue with Jennifer’s diabetes. Jennifer talked about what she and Philip had been feeling at the time, “Philip and I went through all of those natural emotions … anger, frustration, sadness, desperation for a family. It seemed like everyone around us was getting pregnant and talking about how annoying pregnancy was or how much they hated it. I would have done anything to have morning sickness and swollen feet!” Certainly, in this day and age, there are options for treatment and for help in getting pregnant. This couple would continue to seek out that help. Jennifer stated that over the span of a year and a half, they would do nine different IUIs (Intrauterine inseminations). The result would be two different pregnancies, both resulting in miscarriages. How heartbreaking and how discouraging! They did not, however, give up but rather decided to move to in vitro fertilization (IVF). This would also not be easy.
There are steps that are taken by doctors to help the patient to produce a larger than normal quantity of eggs for harvesting. Doing so increases the chances of an egg being fertilized during the next step in the process. In this process, the goal is to have as many eggs fertilized as possible. This increases the likelihood of pregnancy. For Jennifer’s part, she had to endure receiving injections and she had to be on medication as well. Another thing that was an issue was the higher levels of estrogen that are produced during the IVF process. This can cause an increase in mood swings and that was also experienced by Jennifer. In the end, going through IVF would be worth it. Jennifer stated that as they did the egg retrieval, they removed ten eggs but only four of them were fertilized. There is a short period of time in between harvesting eggs and implantation of those which are fertilized. Jennifer would tell me that by day five, there was only one embryo that was suitable for implantation. In other cases, there are times in which there are multiple embryos for implantation. They can also be stored in a freezer to be implanted at a later date. This was not the case for Philip and Jennifer. They only had the one egg and would be told that there was only a 25% chance that the egg would be implanted successfully. Some would consider it necessary that a miracle would need to take place under those circumstances.
It is just a matter of days, as the entire process takes place, that successful implantation is determined. This, through blood work that is performed. Just as one would expect, Jennifer remembers the day. It was August 12, 2016, and Jennifer remembers where she and Philip were at the time. They were having lunch together on the coast, in a town named Westport. This was one of their favorite places to visit because Jennifer’s grandparents used to lived there. There were lots of memories associated with this town, and now, there would be even more. The couple was eating lunch at a little “hole in the wall” seafood restaurant when the IVF nurse called. The sun was shining that day but their world got even brighter as the news was received. Jennifer was pregnant! Philip and Jennifer were so happy and maybe a little nervous at the same time. After experiencing miscarriages before, they were slightly afraid that the pregnancy wouldn’t stick. And yet, the couple was elated and extremely optimistic. It was a wonderful experience. They headed for the beach after lunch where they flew a kite, walked on the beach, and took lots of pictures. Jennifer stated that it was a “great day” and indeed it was! They were elated and you just know that the rest of the family was very happy for them. A new addition to the family and Philip and Jennifer were so very deserving after all they had experience previously. This baby would stay put in mom’s tummy and the pregnancy would progress. However, it wouldn’t do so without further challenges.
Jennifer would experience no morning sickness during the pregnancy and her diabetes would be kept under control. She said that her sugar levels were lower than they ever had been before. That however, would take some work and she would have to be monitored closely. Her insulin intake would have to be adjusted frequently. Jennifer stated that by the end of her pregnancy, she was taking three to four times more insulin than she was taking beforehand. Every expectant mom will have an increase in doctors appointments. That is to be expected but even more so with the additional health risks Jennifer faced. The appointments were numerous and she was never completely at ease during the pregnancy. Here is what she had to say about her situation personally, “I had monthly endocrinologist visits. I was considered high risk due to my diabetes and high blood pressure. I had prenatal appointments bi-weekly and then weekly toward the end. For the last few weeks, I would go in twice a week for ultrasounds and non-stress tests. It was difficult for me to enjoy the pregnancy for quite a while. I had so much anxiety about something going wrong after experiencing the miscarriages. I felt like it was too good to be true, and I shouldn’t jinx it. I thought the rug would be pulled out from under us at any point.” Who could not understand those sorts of feelings after all that Philip and Jennifer had experienced up unto this point?
All of the added anxiety and trips to the doctor had to be exhausting. With all that Jennifer would go through, her baby would hang in there and would continue to develop. The weeks passed without a major occurrence but it was around week thirty-four that Jennifer’s blood pressure started to rise. The specialist would increase Jennifer’s blood pressure medication and would also run some tests. The staff wanted to make sure that she wasn’t starting to develop pre-eclampsia. This condition is serious as it can be life threatening to the mother in rare cases. It would only be a couple of more weeks as Jennifer’s condition worsened and she started to develop pre-eclampsia. Giving birth is the only way to remove the expectant mother from harm's way and the doctors needed to act. This all took place on Tuesday, the 28th of March in 2017. They wanted to send Jennifer to Tacoma General Hospital to be induced and this was taking place while Philip was at work in Seattle. Jennifer had already been through so much and now this. She describes her reaction with the following, “I started crying then and there. She wasn’t supposed to be born for another 3-4 weeks. Her nursery wasn’t ready yet! I still had work to do! I called Philip at his office in Seattle and he headed straight down to Tacoma.”
After arriving at the hospital, the doctors started giving Jennifer drugs in order to induce labor. One that she mentioned was the drug named Pitocin. Once it was given, they waited and the waiting would continue.
This baby did not want to come out. The nurses noticed that as the amount of the drug was increased, the baby’s heart rate would slow down. As a result, the decision was made to stop with the medication for a time, wait, and then try again. Jennifer’s baby was not responding well to the medication and Jennifer herself, was exhausted. After evaluating the situation, the doctors decided that delivering the baby by cesarean section was necessary. For Jennifer’s part, she was all for it at that point. This was a big event for the entire family. Along with an anxious father-to-be, Jennifer’s parents were also there at the hospital. The consent forms were signed and Jennifer was wheeled away as mom and dad looked on. So much had taken place by the time that this couple had reached this point. Jennifer had never been completely at ease with the situation over the course of her pregnancy however, she was comforted by having Philip by her side at this time. Jennifer shared that she had faith that things would work out even though she felt anxious. She was under the assumption that that C-sections take place quickly but this didn’t seem to be the case. Jennifer waited eagerly to see her newborn baby and it seemed as though it was taking forever. It took so much to arrive at this point but the time had finally arrived for this little baby to make an entrance into this world.
Jennifer remembers the time that she would deliver her first-born child, up to the minute. It was 3:53 a.m. on Thursday, the 30th of March in 2017. Philip was by Jennifer’s side as the doctors pulled their baby out of mom and he would notice that the baby looked kind of grey and was not yet crying. The staff did not appear to look panicked and according to Philip they simply gave the newborn some “thumps.” The baby girl would then let out a cry and it would be the most beautiful sound that Jennifer had ever heard. Simply put, Jennifer describes the feeling, “That cry! It was beautiful!!! Tears came to my eyes as I realized I was officially a mother.” After all she and Philip had gone through to have this child, the feeling was one of pure elation. Jennifer had always seen in the movies that the mom was able to hold their child right away. Even after a C-section. That would not be the case as she would have to wait while the doctors stitched her up. Jennifer also felt that perhaps her baby had to be examined after the difficult labor and delivery. Philip was able to hold his baby girl after she had been cleaned up and Jennifer was able to do so after the doctor finished with her surgery.
This baby girl was perfect and she was perfectly beautiful. She weighed six pounds, eight ounces, and she was eighteen and a half inches long. She had the sweetest little face and she had her father’s dark hair. It was black and curly and she had a lot of it. This little girl was so incredibly special, for more reasons than one. They named her Amelia! Jennifer described the feelings that she felt over seeing her daughter for the first time with the following, “I was able to hold her after I was finished with surgery, falling into a deep, profound, life-altering love. She had the blackest curly hair and such beautiful, soft skin. Our baby was perfect.” As for Philip, his thoughts were of the responsibility that he had as a father and husband to the mom of his brand-new daughter. He was equally in love with Amelia as he thought about his new role. Here is what his thoughts were at the time, “The first time I held Amelia, I had the same thought I've had ever since: I hope I'm doing this right. That sense of uncertainty, the hope that I'm good enough to be her father has never really gone away. I remember wanting her and Jennifer to both be healthy.” He hoped that they had been through the most difficult of times as they now focused on being a family. Philip continued with the following, “The ‘hard’ part, I prayed, was over and I hoped we could focus on helping her learn and grow. I promised her I would be the best father I could be.” There are always challenges that come with raising a child into adulthood. Philip and Jennifer had gone through so much and they were ready for all of the normal challenges that parents face together while raising a child. There would be much more to their journey, however, than a person could see at this point.
It stands to reason that little Amelia would all at once gain the love and affection from the entire family. This was a great story in the making. Think about it. The oldest of three daughters has difficulty in becoming pregnant and in bearing a child. She had married a man that she had known since junior high school. They are not only man and wife but also friends for much of their young lives. They did things correctly and with purpose, both gaining an education. The missing piece to their life together was a child and they now had Amelia. She didn’t come to them easily but she was here. This child brought joy, not just to her parents but to the entire family because they knew what it took to bring her into this world. The family as a whole, was overjoyed for this couple and they loved little Amelia. For Philip and Jennifer, it was an experience that they had longed for. The first year of Amelia’s life would be pretty typical although there would be a bump or two in the road. Jennifer stated that her development was pretty normal in that first year. Amelia was social and happy, and she was observant. Amelia’s Aunt Jessica made note of several things. Amelia loved music and having books read to her. She also loved jumping and being in swings. Amelia “had the best giggle and a huge smile that was infectious.” Seeing these things made everyone happy for her, and for her mom and dad as well. It appeared, even at that point, that Amelia had a bright and promising future. She did have an issue with reflux but Amelia was otherwise a healthy little girl.
Another issue that developed at the time was a flat spot on the back of Amelia’s head. Her mom says that Amelia was a great sleeper and she rarely moved during her sleep. She loved sleeping on her back and hated “tummy time” with a passion. Amelia would develop a condition called brachycephaly. The condition happens simply because a baby’s head is still soft and moldable as an infant. For this, Amelia had to wear a helmet on her head for twenty-three hours a day over a nine-month period. She would handle this just fine and she would, of course, look very adorable in her pink helmet. At first, Jennifer would not handle things as well . She would carry some guilt over this and would say so with the following, “The funny thing was I cried and cried over her having to wear a helmet. How crazy is that? I felt like a failure, like I had somehow let her head become flat. In my mind I thought, “Only babies that are left on the floor and in bouncer chairs all day have flat heads!” This of course was not the case but Jennifer did carry some “mommy guilt” over the situation. Part of the process for correcting Amelia’s condition was to undergo physical therapy for positioning exercises. Amelia was in therapy starting at six months old and as such, another issue would be noticed by the therapists. It seemed at that time that Amelia had some delays in her gross motor skills. Amelia was not yet rolling from her back to her tummy and she was not able to push herself up using her arms and legs. Jennifer shared that in spite of this, Amelia was engaged and thriving. She was showing an average level of ability when it came to cognitive, social, and fine motor skills.
Jennifer made comment to me on all the things that were noticed by the entire family. This, concerning Amelia’s little personality and the things that she really enjoyed. Here is what Jennifer had to say about Amelia, “She babbled and laughed. And boy did she love books! We could read ten to fifteen books to her at a time and she would sit and absorb it all! She would get excited to see her favorite books ... ‘Five Little Monkeys Jumping on the Bed’ and ‘Brown Bear, Brown Bear’ were her favorites. She would laugh and squeal. Amelia was an observant baby and loved to watch her two older cousins playing together.” Everything was overall very good with little Amelia and the Palermos were enjoying being a family. It was the simple things that made up the good times that they were experiencing. They spent time swinging (Amelia loved the swing). They took walks together and they loved visiting their favorite nature preserve, Northwest Trek. This was a good time and they had no reason to believe anything but that Amelia would continue to thrive.
It was, however, shortly after Amelia’s first birthday that things started to change. Philip and Jennifer started to notice that things were a little different with Amelia than one might expect. Their concerns would soon be shared by family members as they continued to spend time together. Here is some of what Jennifer had to say about the types of things that were being noticed, “It was shortly after her first birthday that things began to change. One morning I asked my husband, ‘Do you notice that Amelia won't look at you when you're holding her up close?’ At first we thought it was just a funny quirk. We would pick her up and she would instantly look away. Then I started really thinking ... she wasn't waving, pointing, or engaging in social interactions as much as she used to. When we went to visit family, she didn't immediately smile at them like she typically would.” Think about all that this couple had been through up to this point. They had already been through so much and they had no idea concerning what the future would hold for them. There was more that Jennifer had noticed and it was all very concerning. Amelia had been using simple words such as “Mama” and “up” but then quit using them. She had even stopped babbling. Jennifer had gained a lot of experience working with kids with special needs. This included those with autism. The things that she had been seeing in her own daughter mirrored the characteristics that she had seen in children who were autistic. At the beginning, Jennifer would share her concerns with others, only to be told that she was overreacting. Jennifer would hear things such as, “All babies develop at their own rate”, but this mamma knew, something wasn’t right. After all, she had taught struggling students for fifteen years. Jennifer started researching about milestones to identify where Amelia should be at that point in time. It became obvious to her that Amelia was far behind where she should be at this point. In areas like communication, motor and social skills, Amelia was behind where she should be.
Again, think about what it took to bring this baby girl into the world. This was Jennifer’s Miracle baby and Amelia was one of the biggest parts of her world. This mom did what any responsible parent would do and that would include a trip to the doctor. Here is some of what Jennifer had to say about that visit, “I brought it up to our Primary Care Physician, handing her a list of my concerns. I couldn’t even read them out loud. I handed her the list and cried, while kissing Amelia’s little cheeks. At this point, she was referred to a developmental pediatrician at Mary Bridge Children's Hospital in Tacoma. My heart sank when I thought of Amelia having autism.” Jennifer had seen what was experienced by children with autism as she taught them at school. Autism spectrum disorder is a broad category that can describe people with many different skills and ability levels, but one of her main concerns was how Amelia would be able to relate to her peers. A label such as “odd” or different, to say the least, was a concern. What about making friendships and the other struggles that Amelia would face? This was all part of what ran through Jennifer’s mind at the time. Their first appointment with the developmental pediatrician would arrive in August of 2017. According to Jennifer, the doctor would agree that there were some “red flags” that pointed to autism as a diagnosis. The pediatrician wanted to do a follow-up in six months because Amelia was so young at the time. Philip and Jennifer wanted Amelia to receive a complete evaluation of her skills in order to determine what level she was at in all pertinent areas.
Much of that work would be done at Mary Bridge Hospital and some through an early intervention service provider. The results would be telling and of great concern. Amelia would be tested to determine what level she was at in her cognitive skills, social/emotional skills, fine motor, gross motor, and her adaptive skills. Amelia was fifteen months old at the time that the results of her evaluation were received. Jennifer describes what was determined and gives us what her reaction was with the following, “I was shocked and extremely terrified when I learned of the results. Amelia scored as a 6-9 month old child on the cognitive testing. Her fine motor skills and gross motor skills were slightly better at 9-12 months. Something was terribly, terribly wrong.” The findings concerning the delays in motor skills were expected by Philip and Jennifer but they did not expect what was determined about her level of cognitive function. I think that it is safe to say that, at this point, the entire family knew that they had a special set of circumstances with Amelia.
As I have mentioned and as one would expect, members of the family could see the changes that were taking place with this sweet little girl. They were concerned for both Amelia and her parents. The family had seen the symptoms of what appeared to be autism but also, things that were a part of the farthest end of the spectrum. Amelia’s aunt Joanne had this to say about the changes that she was seeing take place, “Amelia was alert and active before her diagnosis. It was like she was listening to things that we couldn’t hear … which I’ve read is something that autistic kids do. They hear or are listening for little noises that other people take for granted.” There was much time spent with Amelia’s grandparents from both sides of the family. One of those was her grandfather Jerry, better known as Pop Pop. He could see the decline that was taking place in his granddaughter and it was heartbreaking and of great concern. Here is some of what he was seeing, shared in his own words, “Around the time of her diagnosis, there were notable and pronounced delays in her verbal skills and motor skills (crawling and walking). And then the gradual but very noticeable regression of those skills. There was less engagement with her surroundings, and repetitive behaviors.” For Jennifer’s sister Jessica, the differences in Amelia were even more stark. This was because she would only see Amelia during visits to Washington, traveling from her home in California. Here is what she had to say about the changes, “Since I didn’t get to see Amelia in person very often, I noticed a couple things right away … her hand turning inward, her inability to grasp objects, and her lack of tracking objects.” Jerry’s wife, Kris, noticed that Amelia wasn’t meeting the milestones that were expected for someone Amelia’s age. She also was aware of the fact that Amelia was no longer using words that she had previously learned.
It was right after the first appointment that Amelia began to receive early intervention services through an agency called A Step Ahead in Pierce County. Amelia would receive services twice a week from a two-person team. One person was a special education teacher and one was an occupational therapist. Jennifer felt at this point that help had arrived and that gave her a somewhat positive feeling about things. It would be six months until Amelia’s situation was revisited at Mary Bridge and it was hoped that the in-home therapy would be helpful. That, in fact, was the case as she would learn how to crawl and then walk at the age of eighteen months. Philip and Jennifer were, of course, ecstatic to see their little girl take flight. That is always a special event for everyone and this family had waited for that day. Amelia had a wooden cart that she pushed around the house as she walked, but then she gained enough confidence to walk unassisted. It was no doubt that she enjoyed her walks as much as others enjoyed seeing them take place. Jennifer said that her walks were never “smooth and easy”. She went on to say that Amelia was wobbly and hesitant. Amelia could not walk from carpet to tile without stumbling but she gave it her very best effort. She was unable to stop and pick up “toys or objects of interest” and she wasn’t stable on uneven ground.
Jennifer would also share that Amelia would continue to decline socially. This would be heartbreaking to have happen as parents watched it take place and I am sure that was the case for Amelia’s mom and dad. Here is more of what Jennifer had observed, “She stopped smiling as much and it became really hard to make her laugh. We always said she was ‘hard to impress.’ She wouldn't respond to her name being called, but would sometimes respond if she heard a song she liked or if we recited a line from her favorite book.” The symptoms were becoming more severe but they still seemed to fall in line with those that an autistic child would display.
The next appointment with the developmental pediatrician would come but not before more would take place. Things that were of great concern to Philip and Jennifer. That appointment would come in February of 2019 and it was at that time that Amelia would be officially diagnosed as having autism. Earlier, in the later part of 2018, the couple would see some drastic changes in Amelia. In December, she had quit picking up toys and books, however, she would still handle her food and water cup. Jennifer was vigilant and took notice of every change that would take place. It was also prior to the appointment that Amelia would no longer sit up in the bathtub. She would only lay flat on her tummy with her chin barely above the water. Amelia would no longer sit up, play, and splash. In addition, Amelia would no longer push herself up from the floor into the standing position. It was as if she was in a state of decline, but why? Jennifer stated that there would be blood work drawn on Amelia. This, to see if there were genetic markers that would account for the autism diagnosis. The results would come back negative but the diagnosis would still be accepted. In response, Philip and Jennifer would consider seeking help from an ABA (Applied Behavior Analysis) therapist. They also joined an autism support group on Facebook.
It had been such a special event to see Amelia walking for the first time. Although not perfect at it, seeing her walk showed others her determination and each step was special. Special and adorable! However, whatever it was that had its grip on Amelia would soon impact her ability to walk. Almost a month after that second appointment, she began to struggle with her walking. Jennifer stated that she began to notice abnormalities in Amelia’s steps. She began to take shuffle steps and she would fall frequently. Then, with finality, Amelia’s mobility ended. Jennifer describes what happened with the following, “We were in the backyard one day and I took her hand to walk her to the door. She was stuck. Literally couldn't move. Even if we stood in front of her and held her hands, she could not take steps. On Friday, March 29, she took five wobbly steps across the living room. We cheered and praised her and thought all that was behind us. But no. She would never walk again after March 29, 2019. She turned two years old the next day.” How distressing it had to have been to see her regress in this most important area of her development.
Other things that were taking place around this time had to do with an apparent problem with Amelia’s vision. Jennifer stated that her daughter was over-reaching for items. As an example, she would try to pick up bites of food from her bowl but would miss them. They also noticed that she would look at objects out of the corner of her eyes but she would not look directly at things. Can you imagine what it would be like to be a parent and to see all of these things taking place with your daughter? All, while not knowing why it was happening. Amelia had a scheduled appointment with the pediatric opthamologist that was scheduled to take place a couple days before her birthday. The doctor felt that Amelia’s retinas were fine but he wasn’t sure about her optic nerves. Amelia’s crying and squirming made an examination difficult but the doctor observed that she didn’t respond well to stimuli like other kids. Even those who had been diagnosed with autism. He thought that what he was seeing was strange enough that it warranted an MRI. The doctor wanted to rule out the possibility of Amelia having something called Cortical Visual Impairment, or CVI.
Philip and Jennifer would receive excellent help throughout the course of time leading to a diagnosis. Let’s just pause for a minute in order to tell people about the level of care that the Palermo family received from the medical community in the state of Washington. Jennifer had nothing but good things to say about the people that make up the team that helped with Amelia’s care. Amelia’s pediatrician was very supportive from the start as Jennifer brought her their concerns. This was most helpful as Amelia would be referred quickly to Mary Bridge Children’s Hospital for an evaluation. I have personally heard nothing but good things about Mary Bridge and that would be supported by their actions on behalf of this family. According to Jennifer, the developmental pediatrician from Mary Bridge was quickly on top of everything that concerned Amelia. Blood work and genetic testing would happen quickly as they were referred in due time to the departments of neurology and genetics. The support of the medical community would only intensify with each new occurrence as the symptoms continued to appear. For example, getting neurology appointments can often take weeks to months, but one was given to this family right away as their situation would become more dire. Not only was this the case because of the severity of the situation but also because of the caring nature of those who were involved.
Jennifer knew as her daughter quit walking that something was terribly wrong. As a result, she was quick to contact the developmental pediatrician at Mary Bridge. It was decided that a metabolic panel would be performed on Amelia after the developmental pediatrician was contacted. The results of waiting would not be good as the testing revealed nothing. They also tested for muscle wasting and those results would be negative as well. The staff knew that these negative test results had revealed a deeper problem and they were very concerned. It was at that point that the idea of Amelia having Rett Syndrome, or some other neurological disorder, was brought up. It was suggested at this point that getting help from the Department of Genetics at Mary Bridge was necessary. It would be soon after that more would take place. Philip and Jennifer started to observe more changes in Amelia’s behavior. Jennifer said that what they were seeing looked as if Amelia thought that she was falling. She would jerk her hands up in the air as this would happen and they would see it happening a couple of times a week. Amelia was having seizures but they were not yet aware that was taking place. Then one night, as she had a slight fever, this started taking place one after another. Philip and Jennifer took Amelia to urgent care but they were unsure as to whether she was experiencing seizures. They would call Mary Bridge Developmental Pediatrics the next morning and this call would be of the greatest importance. So much had happened. Amelia had stopped walking, talking and interacting with others. Now, it was possible that she was having seizures. Jennifer stated that it was this call that set everything that would follow into motion.
Originally, an appointment with the neurology department had been set for August but that would be pushed up as a result of the possible seizures. Jennifer stated that it would be two days after the urgent care visit that Amelia would be seen by a neurologist. Doctor Phillips from Mary Bridge Children’s Neurology took one look at the videos that Philip had taken with his phone and he knew, Amelia was having myoclonic seizures. An EEG was done two days later and it confirmed the seizure activity. Amelia was prescribed Keppra and the family would meet with the genetics team later that week. It was at that appointment that Amelia’s entire story was discussed in detail with Dr. Yuen, the geneticist. The decision was made to do a blood draw for genetic testing used for epilepsy. The Palermos had to wait three weeks for the results of the testing and that is the point at which they would receive a phone call. Jennifer shares the details surrounding the call with the following, “It was May 21 … I remember very clearly that we were making dinner, kind of in a frenzy to get dinner made and Amelia fed. The genetic counselor told us that they had discovered two mutations; one pathogenic and one of ‘unknown significance.’ Her words were, ‘This is not good. We are very concerned.’ I said ‘Okay….’ immediately having images of Amelia as a teenager in a wheelchair, non-responsive. She said they were concerned that it might be something called Neuronal Ceroid Lipofuscinosis. She couldn’t even pronounce it. She said it is also known as Batten disease, but more testing would need to be done to confirm it.”
Just as is usually the case, neither Philip nor Jennifer had ever heard of Batten disease. The impact of the disease on the health of a child is difficult to consider. For a parent, it is horrifying to learn that such a thing exists. Vision loss, seizures, dementia, and early death. The couple was advised to not research the disease but how could they not? Every parent would. Jennifer describes their thoughts and feelings as they read the details, “Our miracle baby was dying and there was nothing we could do about it.” Jennifer would go on to talk about all they would miss out on because of what they expected would be the diagnosis. She would then continue, “She wouldn’t grow up, have her own children, experience life as an independent woman. We tried to tell ourselves that it wasn't official (we would go in for more blood work the next day), but we knew deep in our hearts. The symptoms matched perfectly with what was happening to our little girl.” And yet, there was this waiting period in which they lived in uncertainty over what they felt had to be true. Jennifer described that period of time as “pure hell” for them. By their side during this time was much of their family. Philip’s mom and dad, both of Jennifer’s parents, and extended family and friends were a huge source of support during this time. Jennifer’s sister Jessica was so concerned that she flew up from California with her daughter in order to be with her sister at this time.
News Beyond Belief
Her sister, a nurse that at one time had worked at Mary Bridge, had never heard of Batten disease either. To learn that her little niece, in all likelihood, had this dreadful disease that she too was just learning about was heartbreaking to her. What can you possibly do to bring comfort at a time like this, with the shock and disbelief? Just being there is perhaps, all that one can do. Jennifer described her state of being to me with this, “I remember noticing that tears were streaming down my face one day and I hadn’t even realized I was crying. I didn’t think it’s possible to cry any more tears.” What do you do when you believe that your daughter is dying? In Philip and Jennifer’s case, they started taking even more photos and videos of Amelia. As an example, Jennifer recorded a ten minute video of Amelia during breakfast. This because she didn’t want to ever forget what a normal breakfast routine with little Amelia was like. In her words, “I am so afraid that I will forget and lose the memories, not having anything to grasp onto.” Before and after a diagnosis was confirmed, and even up to this day, videos were taken of Amelia so that they can capture everything, both good and bad.
It would be in the first week of June in 2019 that a huge part of Philip and Jennifer’s world would collapse. June the 5th was the day that Amelia was scheduled to have an MRI done on her brain. For those not yet aware, this is commonly done on children when there is a neuro-degenerative condition, like Batten disease, that is suspected. Jennifer stated that they would actually learn of the diagnosis before they were supposed to. This happened as they waited in the hospital cafeteria as Amelia’s MRI was being completed. Waiting with Philip and Jennifer was Jennifer’s mom, Kris. As they waited, Jennifer heard an alert for her MyChart application go off on her phone. It was news concerning the results of Amelia’s genetic test. Apparently, the genetics team was supposed to receive this info first and then they were to give the results to the family the following day. In a weird twist of events, the results were revealed at this time. Like the rest of us who are laymen to medical jargon, Jennifer scanned the report to make sense of it. She was able to see with clarity the fact that Amelia’s enzyme levels were low, very low. With the following, Jennifer so eloquently describes what they read with their eyes as their hearts began to break, “With a pounding heart and tears beginning to drop, I turned my phone to Philip so he could see what I was reacting to. 'PPT1 enzyme activity was reduced in blood spots and white blood cells. This supports a defect in the CLN1 gene as a cause for neuronal ceroid lipofuscinosis.'”
It would be on the following day, June the 6th of 2019, that Amelia’s parents met with the genetics team. It was on that day that they would be told officially that their little girl had CLN1 Batten disease. Tears had been shed but there would be more as they continued to come to terms with what was being dealt with. The report for the MRI was not to be ready for a week or two and they would normally have had to wait. As an example of the kindness that this family received from their doctors, Amelia’s neurologist, Doctor Phillips, met with them the same day. He would go over in detail, the results of the MRI. Philip and Jennifer were able to look at the images and see what had been taking place in Amelia’s brain. This time, I am sharing comments from Amelia’s father Philip concerning what that day brought. This, as it ended by viewing the results of the MRI. Here is what he shared, “I recall thinking that the diagnosis confirmation would be the toughest part of the day, and that the MRI discussion later wouldn't hit us as hard. But then we saw the images. We saw the unmistakable black voids, areas where brain matter should be. I thought the scans would just serve as a visual confirmation for a diagnosis we already knew about. But I wasn't at all prepared for how soul-crushing those images were. Our daughter's mind was fighting itself.” The word heartbroken could not fully describe what they had been feeling as they digested all of the information. Whereas Philip and Jennifer once thought that Amelia had something that could be dealt with over the course of her lifetime, they now knew differently. They knew that they would be entering a battle. A battle against time and one in which they would have to fight for Amelia! Batten disease is such a monster.
It’s was very good thing that Philip and Jennifer were not alone as they received the official diagnosis for Amelia. Both of Jennifer’s parents, Jerry and Kris, were present that day at Mary Bridge. They cried with Philip and Jennifer as they held the couple during this difficult time. Jerry and Kris were broken alongside them as what the Palermos already suspected had been confirmed. Philip’s parents and sisters, Althea and Joanne, were equally affected by what they heard as the findings were discussed with them that evening at Philip and Jennifer’s house. Then there were the three sisters. They cried together over the news. Julia had come to the house from close by just to be with Jennifer and Jessica was present via FaceTime. Three sisters sharing an experience that no one would want to face alone. This is the type of family that experiences life together. They enjoy the good times together and support one another in times of need. As things would progress in the journey that is Batten, everyone in this family would be there to lend a hand. It might be during trips to the ER when Amelia was suffering from uncontrolled seizures. Or, it could be providing meals when Philip and Jennifer were just too tired to cook. This family would do whatever it takes to lend a hand. It was rally time and they would rally around Amelia and her parents.
Together, this family had been deeply affected by what had taken place. Jennifer’s sister Julia had been present much of the time as she lived in nearby Graham, Washington. She had witnessed the changes in Amelia and they had been very disheartening to her. For her, the changes were startling and all too real. Here is what she had to say concerning what led up to the diagnosis, “I remember her being a happy, wiggly, babbly baby, giving kisses and clapping her hands. I remember her love for books and songs. I remember her learning to say a word, then losing it, not making eye contact, losing the babbling and having a hard time with fine motor skills.” Julia had seen the effects of what they now know to be Batten disease and its impact on the entire family was real. For sister Jessica, the news was like a “dagger” to her heart. In her years as a nurse, she had worked with children that had chronic and life-limiting conditions. She never knew, during those times, that something like that would hit so close to home. Grandpa Jerry, Pop Pop, was heartbroken and devastated. His “amazing and beautiful” little granddaughter had a rare disease for which there was no cure. Just as it was with Amelia’s Grandpa’s, so too Grammie Kris and Grandma Esther were “shattered” and “heartbroken.”
I’ve said the following often in my writing and it’s worth repeating here. A child’s life should be about laughter and innocent fun as life’s lessons are learned. Am I wrong? And yet, we know that children often get exposed to tragic occurrences. There is often pain associated with living in this world. I think that Jennifer would agree with my point as she says as much when talking about her niece and nephew. Here is what she had to say, “One of the hardest things was to listen to my niece and nephew process this information once the diagnosis was official. My niece, Allison, cried and told my sister that it wasn’t fair and that she ‘wishes Amelia could grow up to be an old lady.’ Allison has told me on multiple occasions that when she sees a shooting star, she always wishes that they will find a cure for Amelia’s disease. And she said if that didn’t work, she would ask Santa for a cure. Little Jakob will often ask if Amelia ‘still has a disease in her brain.’ This is not what children are supposed to be worrying about. It breaks my heart to hear them struggle to make sense of this.” Everyone is in this together, including the little ones. It’s no doubt that these children will be wise beyond their years. It is difficult to talk about and digest the way that Batten has progressed in Amelia as she has battled. It was June of last year when Amelia was diagnosed and much had changed in her before the diagnosis was official. That is just a little over six months as this is being written.
Determined to Fight
Jennifer stated that Amelia is no longer able to feed herself. She eats only pureed foods and she drinks out of a bottle. No more finger food or holding a sippy cup. She is no longer able to crawl, stand, or sit on her own even with assistance. It’s becoming more difficult for her to hold her head up. It all just seems so cruel to watch your child regress in this way. Jennifer stated that Amelia hasn’t laughed in months. The seizures that were at one time well controlled, are no longer held at bay. Now, on average, Amelia has 30 to 45 seizures a day (sometimes more) even while on medication and CBD oil. She is easily agitated and frustrated. This must leave those who love her feeling saddened by their inability to help. Jennifer describes what a child’s life is normally like in comparison to the challenges that they are facing, “Most parents see their child’s eyes light up daily, see their child smile hundreds of times a day. They get to hear their giggles so many times that they take it for granted. We do not. We take nothing for granted. When Amelia smiles, we make a huge deal about it. We scramble to get to a camera. We cheer and clap and talk in squeaky, annoyingly high-pitched voices to try to make her smile just one more time. But she's very different, even from just a couple of months ago. It frightens us how fast things are changing.” There are still, however, things that make Amelia happy and that in return, bring joy to those around her. This is another inspiring story of love and determination. In almost all of the stories that I have done, shock and dismay over a diagnosis such as Batten gives way to the resolve needed to help a child fight the disease. It most often begins with the parents educating themselves. Parents with children that battle Batten are often times the most educated on their child’s condition. This would become the case with Philip and Jennifer as they went in “full research mode”. A parent is often told, when their child is diagnosed, to take that child home and make the remainder of their life as amazing as possible. They are told to make memories. I think that it is so commendable when parents decide to fight back against the disease.
This type of a fight begins with knowledge and that is how the Palermos would begin this battle. With the following, Jennifer describes what her and Philip found as they started to do research on their child’s condition, “There was nothing out there that said ‘Your child has Batten disease … these are the medications and supplements you should be using.’ I found countless articles, some easier to read than others. Some were written years ago and some were more recent. But nothing was staring us right in the face saying, 'This is the answer!’” Jennifer started by making a list of possible medications to try. She researched articles and sent all of this information to the neurologist and the geneticists. They would continue, willingly, to receive the information, never once turning Jennifer away. She would post questions on the BDSRA and CLN1 Facebook pages and would submit any useful information that she received back to Amelia’s doctors. In response, they would generally be open to trying anything that might possibly help. This is one of the ways in which social media is positive and very helpful. It was a tool at Jennifer’s disposal. Speaking of Batten groups on Facebook and the Batten Disease Support and Research Association (BDSRA), Jennifer has found an amazing amount of support within the Batten community. She in turn helps to spread awareness through sharing about their own story. Amelia is their source of inspiration to fight on. They see her determination for this fight and they are determined to fight as well. Jennifer describes what she sees in Amelia and how it helps them to press on, “Our little girl is a fierce fighter. She is strong and determined, and because of her, we have strength to fight too.”
What do you do when you are dealing with a situation that is outside of that which is normal? You search for things that work, things that are enjoyed, and things that are helpful. That is what Philip and Jennifer have done. They have found things that work with their daughter. Amelia loves to stand but she is not able to do so on her own. So, the Palermos purchased a standing frame to place in their living room, hoping that Amelia would love it. Well, perhaps that is something to work on but at this point she does not like standing in it. This precious little person wants to be held and what Amelia wants, Amelia gets. Jennifer again explains with this, “She wants to stand, but hates the harness. She basically wants us to hold her up under the armpits while she stands up, collapses down, stands up again, goes down, over and over again. It is very tiring, but makes her so happy! This is when we see a lot of smiles. I think she feels proud to stand.” I had seen pictures of Amelia sitting on a floatation device in a pool or tub and, of course, the pictures were adorable. I did not, however, know the significance of the photos. It seems that Amelia loves floating in the water. It helps her muscles and she is so relaxed while floating. It was back in July of last year that Amelia’s parents purchased an inflatable spa which they keep heated to a temp of about 99-100 degrees.
Amelia loves her time in the spa and family members love being in the spa with her. It is during this time that she is so responsive and she brings so much joy to others during the time spent in the spa. The float that was found for Amelia keeps her head above the water as she tries to reach her toes to the bottom of the pool. She loves to float from one side to the other and having the jets turned on will bring a smile to her face. Philip and Jennifer have hung twinkling light up around the spa as well and Amelia appears to love that. Anything for Amelia's happiness! Jennifer stated that Amelia continues to love music. Because she can no longer see clearly, she can no longer watch her favorite songs on YouTube. She use to light up and bounce up and down as her favorite Super Simple Songs were turned on for her. She would smile and giggle but this no longer takes place. She still, however, loves and responds to music. Philip and Jennifer play music constantly for Amelia. Children’s songs, classical, relaxing instrumental, and holiday music (at Christmas) can be heard throughout the day. Amelia even loves the hits of the '80s and '90s. This pleases her parents! And still, there are many challenges. Amelia no longer responds as her cousins play around her. In fact, she becomes overwhelmed by having too much activity taking place around her. She is, no doubt, a particular kind of princess but she is so worth every bit of adjustment that people make for her.
As one may have determined, Amelia’s medical team has been “top notch” throughout this journey. Her medical team has continued to grow as her needs have increased. With each new specialist added, her team has remained “compassionate, professional, and supportive.” I’ll use Jennifer’s list of doctors to show the reader just how many people there are that make up her team. Here is how she listed them, “Amelia’s team now includes: her primary care provider, developmental pediatrician, neurologist, gastroenterologist, geneticist, ophthalmologist, occupational therapist, physical therapist, special education teacher, vision specialist, palliative care team, audiologist, orthotist, and a nutritionist and physiatrist are soon to be added to that list.” Not mentioned but something that should be obvious is the amount of time that it takes to attend all of these appointments. I would hope that many of them are scheduled to be attended during a single visit. This Batten mamma is one busy lady! Jennifer stated that they also receive support from the Complex Care team at Mary Bridge Children’s Hospital. Their goal is to “provide support, education, and to guide families through the journey of a life-limiting or life-threatening diagnosis.”
Looking back on things, Philip and Jennifer talked about how they handled each different diagnosis. If only they were still dealing with someone who had been dealt the hand that is autism. Jennifer said this about receiving the news about Batten, “When it was confirmed that she had CLN1, it was like our hearts were broken into a million pieces. We knew there was no treatment. How cruel and unfair. It’s crazy how your worries and perspectives change depending on the circumstances you’re facing. I think back to the times I would cry thinking about Amelia having to wear a helmet for her misshapen head. How ridiculous! Get over it, Jennifer! It’s only a drop in the bucket of her whole life! Then I remember how badly I wished she would suddenly meet her milestones and avoid an autism diagnosis.” The possibility of Rett Syndrome brought with it an increase in anxiety but even that would have been better than the eventual outcome. Many parents who learn of a possible Batten diagnosis also learn of a treatment that exists for kids that have the CLN2 variant. Having that diagnosis would have provided a tiny bit of a silver lining but it was not to be. Jennifer stated that with CLN1 being the final outcome that it seemed they had “been handed the worst possible card.” She also said that their perspective had changed with each possible diagnosis. With the following, Philip talked about how for them, there was a solution for each problem that would arise along the way, “With each developmental struggle, whether it was the growth of her skull or delays in speech, I tried to keep things positive, at least internally. Each concern had a solution, or a treatment, or a method we could use to allow her to grow as 'normally' as possible. There were helmets for her skull, and specialists for her motor skills. Even when autism was becoming more likely as factor, I was comforted knowing plenty of people all along the spectrum grow up and live happy, healthy, loving lives.” For the final diagnosis of Batten disease, things were then different. Philip stated that they knew that Batten was not just another “obstacle to work around.”
Fighting for Amelia
It is completely understandable that a person would be encouraged by any bit of hope that may exist when it comes to something like Batten disease. There are people that have been working on research and possible clinical trials. Philip and Jennifer were given that bit of hope as they were informed about the possibility of a trial coming along in the near future. Here is some of what Jennifer had to say concerning the trial, “It gave Philip and me a goal and a purpose … get her into this trial, as it is our only hope. We spoke with a representative from the company and at that time, they said they were hoping to begin the trial in ‘the fall.’ We filled out release forms, were added to the contact list, and joined in the natural history study being conducted. Unfortunately, nothing has happened in regards to the trial. We, and so many other CLN1 parents, are constantly on the edge of our seats waiting to hear about the gene therapy trial.” Jennifer went on to say that there are companies working on gene therapy, enzyme-replacement therapy, and something called small-molecule therapy, but none of them are moving along fast enough. For Amelia’s sake, they can’t afford to wait and so, Philip and Jennifer are hoping and praying for a trial to start soon. They are doing everything that they can to keep Amelia as healthy as possible and to help her thrive. Philip describes his and Jennifer’s attitude and talks about his promise to Amelia with this, “Amelia is still fighting and we won't give up either. I promised her I would be the best father I could be and it's a promise I intend to keep.” Philip is, no doubt, another great Batten daddy! I have heard of new clinical trials that are on the horizon for CLN1, CLN2, and CLN8. I am praying that these all begin soon, in 2020.
It is difficult to fathom something such as what this couple is going through. Jennifer describes it as like being trapped in something that is unreal, “Amelia’s diagnosis is like being caught in a nightmare I can’t wake up from. For the first month, I would cry myself to sleep and wake up in the morning with tears in my eyes. I would try my best during the day to stay cheerful and present so that I could be the best mom I could for Amelia. But, sometimes you just break.” I know that this mom, and father, are broken over the experience but they go on each day for Amelia’s sake. There have been certain thoughts that have run through my head as I was writing this story and I am sure that they would be shared by others. It may be rare with couples but it does happen. Some decide from the beginning that they do not want a family. They want a relationship with each other only and they are driven by their goals for a career. That is perfectly fine. Philip and Jennifer wanted to do things right and establish themselves in their chosen careers. This, so that they could better provide for a family and they were both successful in doing so. Some couples do have problems with getting pregnant but then through the methods used by the by Palermos, they do conceive. In my brother and sister-in-law’s case, they had triplets. Philip and Jennifer faced challenges in just getting pregnant. The miscarriages and then the difficulties with in-vitro fertilization. They went through more than most but then, they had Amelia. She was their little miracle baby. Batten disease is rare because both parents have to be carriers of the same defective gene. This couple was made for each other and yet they were given this challenge. It is hard to wrap your head around the circumstances as it is difficult to believe that such a thing would be possible.
The heartbreak that is connected with Batten disease should be obvious. To read comments from a Batten mom or to sit and listen is something that can stir one’s emotions. It can make a person want to possess extreme empathy. This has happened to me on countless occasions and doing this story was no exception. Reading the following is yet another example of what I am talking about. Here is more from Jennifer, “I couldn’t believe that after trying for so long, we were going to lose our baby after such a short time together. I still can’t believe that. How is that fair? And why is this happening to our girl? We have no other children … she is our only baby. Our miracle baby. Why her?”
I feel so naive and unqualified to answer these questions. I am not a trained theologian. I don’t have a degree in philosophy, or anything for that matter. Sometimes, the best you can do is to stand by a person’s side or to try to feel what they are feeling from a distance. I can know what it is like to have a child with special needs but my experience ends there. I do know that I hold those who battle Batten in the highest regard. The anticipation of the probable is the hardest part. I’ve been told that the grief starts from the beginning and it never completely goes away.
Jennifer talks about what she anticipates and it is all too real. Here is more of what she had to say, “Night time is the hardest. It’s just too quiet and I ask myself, ‘Is this what it’s going to be like?’ Empty and quiet? What is my purpose without my daughter? When I think of losing Amelia, I can’t even breathe. Just writing this, my heart races, my chest feels tight, and the tears start coming.” With reading this, the tears did start to flow. I so want the clinical trial to start soon and I want Amelia to meet all of the requirements. I hope and I pray that this takes place. But if it doesn’t, Philip and Jennifer’s life will always have purpose and Amelia will always be part of what makes them who they are. The experience of being Amelia’s parents will always be impactful to them, and to those who they come in contact with. Amelia, as are all of these children with Batten, is a fighter. They are so resilient and they just steal your heart, never to give it back. I think about Philip and Jennifer and their chosen career fields. One with a background in journalism and one as a school teacher. Not just any kind of school teacher but one who teaches kids with special needs. How will the experience of being Amelia’s mom impact the way that she handles these special ones? As a couple, will they be more sensitive to those who are suffering hardship? I am looking for a silver lining here but perhaps one does not exist.
I am an outsider doing my best to understand. One thing that I can understand, in large part, is the love that they both have for Amelia. As a couple, they see their daughter battling Batten and they so want to help in every way that they can. Philip as an example, still looks for solutions when it comes to enhancing the quality of his daughter’s life. He knows that time is a precious commodity when it comes to Amelia. He thinks about that when it comes to making as much of his time available as he can for his daughter. She is so precious. Just look at her! Jennifer’s love for Amelia is such that words are not adequate for describing it. Jennifer says that Amelia is “her world and her heart.” Although the things once envisioned are not possible, there are many sweet and wonderful times together. Amelia may not be able to climb into her mom and dad’s bed to snuggle, but she can be brought there to experience the immense amount of love that is felt. She can still be read to and she can dance as she is held in the arms of her mom or dad. That paints an amazing image of love as I envision it. One thing is for certain. Each day with this princess is special, even with the challenges that she brings. Life is not what they expected but Philip and Jennifer will make the most of every day. Jennifer talks a little bit more about the experience with the following, “Our life is different than we had hoped, but we intend on making the very most of every moment we have with Amelia. We are honored to be her parents. She brings so much joy to my heart and to those that love her. I pray every day that she knows and feels just how much she is loved.” I just bet that she does!
Every story has a conclusion although Amelia’s story will continue for some time to come. I am so glad that Philip and Jennifer have the support of such an amazing family. Amelia is loved by all and her life is worth more than could ever be counted. She is priceless and I am so glad that so many are working on her behalf. She is worth every bit of time that she is given and every bit of effort that it takes. Amelia, your life is a miracle and you are every bit as beautiful as the sound of your name. You are precious and so worth fighting for. Keep battling princess.
Blogger and advocate
Is it them or is it us? Is it the feelings that they produce in us or is it that there is something truly special about them? I think that the answer has to be all of the above. It is them, but they also do something to us. Once you give a little piece of your heart to these kids and their families, they come close to taking all of it. Let it happen!
I would like to welcome to my blog Sanfilippo families, as well as, families in other MPS communities. I am grateful for every opportunity to write about those who battle an MPS disorder. This, of course, alongside their special children. This is a labor of love that is extended to each one of you! Scroll down to see MPS family titles.
Highlighting a previous blog that might interest you:
Forever Royal - The Final Version
One child in a family with a rare disease is a challenge. What if there is two? Heartbreak multiplied you pick up the cause and do your very best to make a difference. That is how a normal family becomes Forever Royal ...
Take the titles listed below and go to month and year listed in the archives.
January 2017 -
*The Story Between The Lines
February 2017 -
*I Know Just Where You Are
*My Kind Of Royalty
March 2017 -
*The Caring Type
*Face to face: A Fairy-tale
April 2017 -
*No Ordinary Love
*A Rare Friendship
May 2017 -
*Tyrell and The Rare Love Story
June 2017 -
*Seth and The Healing
July 2017 -
*Little John and The Reason
*Sands and The Scottish Princess
August 2017 -
*A Rare Kind of Devotion
*The Giggle Box
September 2017 -
*Sweet Montanna and The Status
October 2017 -
*The Blog About My Blog
November 2017 -
*Lydia, I Love You!
*Kayden And The Change In Plans
December 2017 -
*Those That Are Like Them
January 2018 -
*Nora Skye - I Know Just Where You Are
*Brock and The Priceless Memories
*Jamesy Boy and The Treatment
*The Priceless Princess From Beyond
*Forever Royal - Part One
*Forever Royal - Part Two
*That Kind of Love - Conner's Story
*What I See (She is a Butterfly)
*No Longer Alone - Kristiina's Story
*Things We've Talked About - Oscar's Story
*The Reason Why - Hannah's Story
*Kayla's Perfect Princess - Breanna's Story
*Where Do I Go From Here? - An information only blog
*Warriors Unaware - Mia and Kaleb
*Her Little Story
*Someone Like Raelynn
*Forever Royal - The Final Version
*Awfully Beautiful - The Life of Noah and Laine
*A Lifetime of Love - Tegen's Destiny
*Forever Beautiful - Gabi's Story
*The Miracle Baby - Amelia's Story
*Dylan's Life - A Small Town Story
*Princess Grace and the Challenges
*Anything for Tessa - Her Story
*Haley Bug's Battle - A Family Story
*Journey Unexpected - The Rich Family
Sanfilippo Syndrome and other MPS family titles -
*The Beautiful Light of Haidyn Grace
*Any Distance Traveled - Reagan's Story
*The Missing Someone - Kiernan's Story
Archives - Use title listed above with the applicable month and year.
Highlights from the beginning of gregster60.com -
Benjamin's Daddy - March and June of 2016 - Revised May 2017. Titled Benjamin's Daddy Revised.
My Fearless Adventure - April and May of 2016
A Different Type of Warrior - January 2017
Larry - February 2017