Hand in Hand - The Harlowe Grace Story

My Favorite - A little bit of Sas!

“The current state of the CLN2 community is devastation and despair again as another promise of gene therapy was halted, and with little explanation. It’s like being rediagnosed all over again. Our chest hurts, our hearts are broken yet again. Our brains are furious and we feverishly are pulling at straws to try to get this back in action.”

        ~Erica Grabczyk~
Harlowe’s Mom and Advocate

It’s been a while now since the time that I first started to follow the journeys of children who battle Batten disease. It all started with the plight of one little girl whose life greatly affected mine. One thing led to another and I just began to write. Never in my younger years did I pay a lot of attention to children. That is even though I had three boys of my own. This all changed once I became aware of the kids that battle. Batten disease is one of a group of disorders known as lysosomal storage disorders and it was the first of these that I had learned about. These children now have an effect on me. When I look at the details of their plight and their innocence, it causes my emotions to be stirred. They are so resilient and strong, no matter what they go through. It seems as though they always bounce back from any challenge they are asked to endure. I’ve asked the following questions several times in my writing, finishing with these statements, “​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.” There are so many different things in life that take our attention away from these kids but they can change us when we choose to take notice. I know that this is true for me! These stories are heart wrenching yet they reveal to us a type of love that is like none other. A love that is mixed with grieving over someone who is still with you can produce a profound type of love.

Perhaps not visible to the families who know this heartache first hand are the details that are better seen from a distance. That is by those who choose to pay attention. Many are the stories of love and pure devotion that have been written. There are some that I have had the privilege of writing about but there are so many others. I am speaking of those that have only been written on the hearts of the people who have cared for these children. During a time like this, a bond is always created that can never be broken. There are 13 different variants of Batten disease and I’ve now written stories that include kids that battle several of these. The most prominent of them are the CLN1, CLN2, and CLN3 variants of Batten and probably because they are some of the most common forms. Of these three types of Batten disease, I would say that CLN2 is the most prominent in my writing. This is simply because of the number of children that battle this variant and the number of parents that make their journeys public. These children tug at your heart as the symptoms really start to show themselves at around 4 years of age. I have seen some changes in the battle with CLN2 since I began doing these stories. It seemed in the beginning that a family’s story would often include a long search for answers. My guess is that the advancement of genetic testing has played a role in a diagnosis being found more quickly. More neurologists now know to look to genetics in determining a cause for something like seizures. Testing may also be more readily available. One story in particular came to mind as I thought about the advancements that have taken place.

---

The Giggle Box - Little Samantha

That story is called The Giggle Box (August of 2017 archives). The reason that I thought of it was because of the difficulty that this family went through in finding a diagnosis for their little jewel of a girl who was named Samantha. Eventually being diagnosed with CLN2 Batten, little Samantha would experience all of the symptoms that normally lead up to a diagnosis. That is without her receiving one in a quick manner. She would experience hundreds of drop seizures in a day, leaving her mom and grandmother to wonder what was taking place. Based in New Mexico, Samantha’s story would include the search for doctor’s that could help. Rather, that would help. Finding doctors that would believe what they were being told was the first obstacle. Samatha was a special little girl who would battle Batten bravely, eventually gaining her angel wings. Her life impacted her family greatly and her legacy lives on in the hearts of those who knew and loved her. How could you not love her? The Giggle Box has been one of the highest viewed stories in the time I’ve been writing about these children. The reason that I thought about Samantha in this case is that some good things have happened in the battle against Batten disease since the time I wrote the Giggle Box. There are many other stories that are similar from earlier times where the medical community was not as aware as they should be. I see now, in many cases, that doctors are much quicker to look to genetics for finding answers. That is when looking for an answer for things like recurring seizures or perhaps in the case of complex vision issues. 

I think that there is also greater awareness concerning rare genetic disorders that affect children. This would include a rare disease such as Batten. It’s been a few years now that a breakthrough in the battle against CLN2 Batten disease took place. That being that a clinical trial began to be offered to kids that battle CLN2. This was enzyme replacement therapy using a solution named Brineura. While not a cure, it showed promise for helping children with Late Infantile Batten to have a better quality of life. Parents traveled, sometimes long distances, to allow their son or daughter to be able to have this advantage. The procedure is now available in more locations as new hospitals have come on board. This was a step in the right direction but again, it is not a cure. What parents have hoped for is that the science behind gene replacement therapy would become a reality. How gene replacement works is a big topic for another story. Simply put, the mutated copy of the gene that causes the disease is replaced in the child’s body with a good working copy. The science behind this and how the cells of the human body function is fascinating. A trial using gene replacement would actually begin and it would show a lot of promise. This as it was performed outside of the United States on a single child. The families that have kids that battle CLN2 were watching and just as things looked promising, the funding was pulled. How devastating this had to have been for these dear families. Where do I go from here as I begin this next story except to say that this next little Batten warrior and her family are right in the middle of what I just mentioned. Harlowe Grace Ilse has benefited from enzyme replacement after receiving a relatively quick diagnosis but her family is one that lives in suspension with the news concerning the gene replacement trial that has been put on hold. The following is Harlowe’s story and it’s a privilege to tell it to you. Let’s get started!   

---

Big Fish Story
​

Nice looking couple!

Ryan Ilse and Erica Grabczyk were two single adults living in the state of Wisconsin. Each of them had recently come through individual life changes and they each were unattached while being busy with their careers. Ryan had caught Erica’s attention while she was on an online dating site. Strangely enough, it was because Ryan was holding a huge fish that he had caught. Erica had no interest in fishing herself but she became inquisitive. The location on Ryan’s profile showed him as being located near a vacation cabin owned by Erica’s family in Northern Wisconsin. She wanted to know where this enormous fish (57”) was caught. This is how life long stories can sometimes begin and Erica would contact Ryan to learn more about his big fish story. She wanted to know where he had caught the fish because she would swim in the lakes located by the cabin. Erica didn’t want to run into another one of those things during one of her swims. She truly just wanted to know where he caught the fish because of the fact that it “scared” her. Once she actually looked at Ryan, she discovered that he was handsome and she would also find out that he was funny during their chats. It was 2016 when they would meet online and it also happened that Ryan was now living in the same city as Erica. You might guess what would happen after that. The two of them continued to chat and would hit it off. To Erica, Ryan was polite and easy to get to know. At this time, Erica was 38 years old and Ryan was 42. Erica shared, “I always found it odd that he showed up on my feed since he was 145 miles away from me. So I thought it was fate and a love for that particular part of northern Wisconsin that brought us together.” 

Their relationship continued to grow to the point that they both thought that their lives might be spent together. They met each other’s family and friends and Erica felt that she had much in common with Ryan as far as their personal likes were concerned. Ryan was starting his life over with a new job in a new city. Erica was also starting over after getting divorced two years prior. The two of them did not want to settle into something permanent right away. They did, however, take up residence together as Ryan moved in to Erica’s place. They were boy and girl and each with a doggie to round things out. Life continued into the year of 2017 and as August rolled around, they each received a big surprise. Erica was pregnant! She was now 39 years old and Ryan himself was 43. This was unplanned as they had both thought that they were too old at this point. They both agreed that they were not going to have children because they had “missed that bus.” The other factor was that Erica had a condition in her Uterus that causes fibroids and polyps to form. In fact, she referred to hers as being a “bubble wrap uterus”. Erica thought that this would interfere with her having a successful pregnancy. Because of this condition, she had to have a procedure known as a myomectomy performed in May of 2017. This was a procedure to have fibroids removed and it was done in order to help with menstrual dysfunction. This had Erica off of birth control for the first time in decades. It only took a 4th of July party, and well you know, Erica was now with child but neither her nor Ryan were disappointed. 

Erica shared, “As we all know life will throw these miracles in our path and brighten our lives in ways we hadn’t imagined. We were very excited but scared being a high risk geriatric pregnancy.” It’s hard to believe that Erica’s pregnancy would be thought of in such a way at only 39 years of age. Even so, the issues with her uterus along with her advanced childbearing age placed her in that category. In spite of this, and thankfully, Erica’s pregnancy would go very well as she and Ryan waited in anxious expectation. How different would life now be for each of them? It would definitely be different from anything that they had expected prior to meeting each other. They were both thrilled with the prospect of being parents. The baby was due on April 4th of 2018 and both Ryan and Erica chose to become domestic partners legally. Still cautious about their future together, this seemed to be the right level of commitment to one another. Things were well with them and they remained excited about the baby's delivery which was still expected in April. As we all know however, these little ones do not always stick to the plan when it comes to the delivery date. March the 8th is a day that Ryan and Eica will never forget. That day started like most any other. Erica was a co-owner of two beauty salons and had worked behind a hair cutting chair for 8 hours that day. Afterwards, she met up with friends for a pie tasting date at their favorite pie place. Curious as to when her baby was going to drop, Erica’s friend jokingly asked if it ever would. 

---

The night was filled with lots of pie and laughter and the evening would soon come to an end. Not in the way expected though. Erica had begun to experience cramping later in the evening. This, she chalked up to being lactose intolerant. As she got up to head home, her baby suddenly dropped into position. As a result, Erica’s bladder emptied right then and there, all over the floor of her favorite pie place. Mortified, all she could do was to leave the restaurant and head for home. She settled in and then checked herself out, finding that she had a lot of bleeding going on. She woke up Ryan who called Erica’s OBGYN. The doctor said that she should go to the emergency room to be on the safe side so Erica got cleaned up and ready to go. Thinking that it was a false alarm, Ryan reluctantly did as he was told and they both headed for the car. Together, they drove to Saint Mary’s hospital in Milwaukee where they tested Erica. They wanted to see if amniotic fluid was the substance that had excited her body. The bleeding had stopped and they found that the fluid in question was only urine. Erica was only dilated 3 centimeters and that left them not too concerned. However, the staff did want her to stay a couple of hours in order for her to be monitored. Erica stated that during that time they continued to repeat, “you’re not having this baby tonight. This is just a precaution”. She would be hooked up to a couple monitors and they settled in. One might guess that things would change as they waited. Erica’s back started to hurt and she couldn’t get comfortable. To make things worse, she had to urinate every couple of minutes. 

The Real Thing
​

A special surprise!

Something was happening! In fact, Erica thought that she was having contractions. This while the staff maintained that she wasn’t going to give birth that night. Erica herself started to time the bursts of pain and found that they were every minute and a half to two minutes apart. Erica shared, “The nurse who was assigned to me kept coming in, reading the monitor results. I joked and said ‘these are some serious Braxton Hicks.’ She replied ‘these aren’t Braxton hicks’ and they were real labor contractions.” How could that be? This was almost exactly a month before Erica’s due date and they had assured her that this was not to be. Erica was examined again and she had gone from 3 centimeters to 9 centimeters in 2 hours. This baby was on its way and Erica was wheeled back to labor and delivery. She would need help in managing the pain and would thankfully, receive an epidural. The big push (literally) was then on to bring this baby into the world. The delivery would go well overall with only one problem and that being the baby’s position. Although head down as you would want, she was also face up and that is not the best position for delivery. Did I just mention that this baby was a she? Why yes I did and this baby girl would get a little stuck on her mom’s pelvic bone on her way out. Erica would push for 3 hours before it was decided that she would need to have an episiotomy done to help in the delivery. Once that was done, this baby girl entered the lives of her parents. She was full of life and so beautiful. Right away, she was using her lungs to inform everyone of her presence and she was perfectly healthy with the exception of a little jaundice.

NICU was there and waiting to take this brand new bundle away in order for some necessary testing to be performed. Ryan would accompany his infant daughter while Erica recovered from the delivery. Allow me to let Erica share what she was feeling once she had the opportunity to meet her daughter, “Once ok’d by the NICU team, I finally got to meet the love of my life. She was so tiny and absolutely perfect! And so strong! Trying to lift up her head and use those little abs immediately. It was the calmest I’ve ever felt. I felt like I knew her forever. Complete love and peace. Hello Harlowe Grace. I will love you forever. And just like the grinch my heart grew 100 times bigger and I felt complete.” The big event would take place on Friday, the 9th of March, in 2018. Little Harlowe Grace would weigh in at 5 pounds and 4 ounces, and she was 19” long. She would be born four days after  Erica’s 40th birthday and she was the best gift that any girl could receive.
What was it like for Ryan as he held his infant daughter for the first time? It was a moment that was not easy for him to put into words. Being a parent was not something that he and Erica had expected to happen in life. This because they had both aged beyond what most would consider to be the right age for raising a child. Ryan had talked with people about being a parent and had small children around him previously. This was because his parents had remarried after being divorced and he had young siblings out of this. Even so, being a father himself was something that Ryan had to experience. He was amazed by how it felt, this time for himself, and he loved the fact that he was now a dad to a precious infant daughter.

---

The amount of joy surrounding this little girl was unmeasurable. Two people that had not planned on parenting a child suddenly were a mom and dad. They didn’t mind this one bit as Harlowe Grace filled a void that they didn’t know existed. Together, the three of them would return home on Monday. Harlowe was wrapped tight in her little Billy blanket and this caused her parents to joke in saying that she looked like “a little glow worm.” The new baby in the house activities would begin and Erica would refer to everything as being “typical” for the parents of a newborn baby. Her jaundice would clear up within a couple of weeks and Harlowe Grace would begin to thrive, reaching all of the normal bench marks on time. Ryan and Erica were both in the learning phase but would grow quickly with each new day. To everyone, her parents, grandparents, and extended family and friends, little Harlowe brought so much joy. To Erica, this new life was just amazing and she certainly loved being a mom. Erica shared succinctly concerning the beginning of things, “The first year flew by. We had our hiccups, but we managed through. We survived!” A big event in any baby’s life is that first Birthday and Erica would pull out all the stops in order to make it a grand event. First of all, there were one hundred guests who attended. There was an indoor playground that was constructed, Smores at the fireplace, and more. There was a crazy good buffet, a fun drink stand, face painting, and fake tattoos. To round things out, there was a popcorn stand and even more.

Erica shared, “A few hours filled with so much love and laughter, people will still say it was the best first birthday party they’ve ever been to. The theme was vintage hot air balloons and ‘Oh the places you’ll go my sweet girl.’” Nobody knows in advance what life will bring their way. However, nothing but good things were expected for this little girl. Erica continued, “I threw this huge party because we made it! I wasn’t supposed to have kids, then I got pregnant, then I was completely terrified she wouldn’t make it because of my age during pregnancy (the doctors scare you with ever potential horrifying outcome), then she comes early, then every SIDS (sudden infant death syndrome) warnings during the first year of life and here she was ONE and thriving!” This was such a relief for Ryan and Erica. In their eyes, their little girl had already accomplished much and their journey together would continue. This was worth celebrating in a big way and that, they did! Erica called the party “Magic” and I can only imagine that the atmosphere was electric. She has no regrets in regards to all of the effort put into the event and the memory of it will endure. The special times continued into the next year of Harlowe’s life. It was fun watching her grow as she continued to develop new skills. Watching her walk and run while babbling non-stop brought joy to her parents. Harlowe Grace was much loved and she was a natural source of entertainment for everyone that was part of her life. It was the warmer weather of Atlanta, Georgia that brought the family of three there for Harlowe’s 2nd birthday. 

​The Little Traveler
​

Fabulous pic!

This would be the last time that Harlowe could ride on a plane for free as a lap child and they took advantage of that opportunity as well. Together, they visited the aquarium to see the whale sharks and they also went to the zoo in Atlanta to see the pandas. Of course, there were lots of other animals there as well! Erica shared that they got back home to their airport at 11:30pm and Harlowe would turn 2 years old at midnight. Harlowe’s 2nd Birthday was more low key. This time, it was just close family and friends that attended and they did Taco Tuesday on Monday. Of course, Erica decorated like crazy and there was lots of love surrounding Harlowe Grace as they all followed dinner up with a very special Birthday cake. This little girl, that they had not expected, was bringing a lot of joy into this family. They were all watching her grow as she reached every milestone and nothing but great things were expected. Things were wonderful for this little family but then they became a bit stressful all of a sudden. A week after Harlowe’s Birthday, the world shut down because of Covid-19. The stress over what was taking place during the pandemic caused Harlowe’s family to not notice something. She had started to regress in some of her skills and it wasn’t seen right away because of Covid. Erica shared that she couldn’t do her ABCs as well as she could before plus her counting and recognition of numbers was spotty. Harlowe had also slowed in her verbal skills. Like all of us during the pandemic, Ryan and Erica were distracted by what was going on in the world at that time. 

---

Stunning little lady!

They also had chalked up what they were possibly seeing to a lack of play dates with other children. Ryan and Erica had no one to compare Harlowe to because of the isolation. Even with the concerns over the pandemic, it was still a wonderful year of watching Harlowe grow physically. She was so much fun and so adorable. Harlowe was always curious and at the level of cuteness overload. Any deep concern over a little regression was, for the most part, not felt. Even with the pandemic in full swing, they were still able to enjoy the holidays together. However, as the new year rolled around, an event would take place that would shake any parent’s nerves. Harlowe Grace would have a seizure. It was early Sunday morning, a little after 7 a.m., on January the 3rd of 2021. Ryan was still sleeping and Erica was on the couch with Harlowe standing and playing nearby. Seizure can appear in many different ways with a parent wondering what it is that is taking place. Erica explained what she had seen during this first episode, “All of a sudden out of nowhere she comes running over to me, saying ‘mama mama, the lights, the lights’ and she’s looking around the room haphazardly. Darting her vision to different areas in the room quickly. Almost like a cat when you’re playing with a laser pointer. I just remember leaning over and grabbing her while she stood in front of me and saying what lights and following her line of vision. I honestly thought ‘is she seeing a ghost?”” Erica went on to say that this was so surreal. Harlowe would go on to lose the contents of her stomach all over both herself and Erica.

Lifting up Harlowe quickly and heading for the bathroom, Erica could feel Harlowe go completely limp as they entered the room. She was concerned that Harlowe may be choking and unable to breathe because of the vomit. How terrifying this would be for any mom. Little Harlowe was not responding and she felt like a ragdoll in Erica’s arms. Sitting on the edge of the bathtub, Erica flipped her daughter over onto her stomach and started to tap her back. This was in hope of dislodging whatever Harlowe may be choking on. As all of this was taking place, Harlowe would regain all of her muscle strength and would begin to ask Erica what it was that had happened. The incident had only lasted a few minutes at the most but it seemed an eternity to Erica. This was terrifying. Cleaning up Harlowe and holding her to her chest, Erica then woke up Ryan. She said that she must have looked “super freaked out” to Ryan because he went right into action upon waking. They would get in contact with the pediatrician and would hear back from the doctor on-call. Harlowe had experienced a bout with Covid-19 over the week of Christmas and they thought that the seizure may be related to this. Harlowe was completely back to normal and it was hoped that this was a one time occurrence only. It was not something that Erica ever wanted to see her daughter go through again.  

The incident, however, would repeat itself on Thursday Morning, January the 14th. It was a lazy day and mom and daughter were hanging out in bed when the 2nd occurrence took place. Again Harlowe stated that she was seeing lights. She then vomited and experienced loss of muscle control. Confused, Harlowe then passed out. Alone at home, Erica called the pediatrician who recommended that Harlowe be brought to the Children’s hospital ER in Milwaukee. This was in hopes that the staff would order an EEG and an MRI. Erica packed a back with snacks and toys included and they headed off. The day would turn out to be nothing but disappointing as Erica was told that they didn’t think that Harlowe had a seizure. No EEG was ordered and they were just sent home. Furious, Erica couldn’t believe what she was told by one of the resident doctors. That was that it is normal for a toddler to have three or four seizures a year and that she shouldn’t worry or lose sleep over it. What? Erica shared how she responded to that doctor. She said, “I assume you do not have any children, because a mother never stops worrying about her child until the day the mother takes her last breath”. Erica also shared with me, “….I suggested that she may keep that comment to herself future forward. I also told her that it was absolutely 100% not true that toddlers typically have 3 to 4 seizures a year. I left that ER infuriated. I called our pediatrician and she was appalled.” Erica was scheduled to go with some friends to a weekend getaway and was hesitant to leave with all that had happened. 

---

More Than a Headache
​

So much fun!

She was, however, encouraged to go as everyone felt that little Harlowe would be fine. She went but was then contacted by Ryan who told her that their daughter had another seizure. They were headed to the ER and Erica headed home, waiting to hear what was taking place. Only one parent could be with Harlowe because of the Covid restrictions and Erica thought that it was best in this case that Ryan stay with Harlowe. They did remain in contact over the phone with each other. Harlowe’s pediatrician would push for an EEG along with Ryan and Erica but again, the ER doctors did not think it was necessary. They still insisted that Harlowe did not have a seizure. They instead kept saying that she was having acute confusion migraines. Erica added, “….in my heart, and my whole being, I knew she was having seizures. And our pediatrician 100% believed us.” Erica’s level of frustration had to be enormous at this point. Harlowe’s pediatrician was furious upon learning this. She would be the one that would order the tests and she would also call the ER department that declined in ordering the testing. Her exchange of words with them was not a pleasant one! Finally, the MRI would be performed on January the 19th of 2021 and the EEG would follow on the 29th of the same month. Ryan and Erica would again have a negative experience as Harlowe was assigned a neurologist between those two appointments. As it would turn out, they were assigned a doctor that was rude and who seemed uncaring. He was annoyed that the EEG had not yet been performed as if that was Erica’s fault. 

His demeanor was such that it was as if his time was just being wasted. Perhaps this doctor should have been doing something else for a living! Erica was not going to accept this type of behavior from a physician. I’ll let her explain, in her own words, how she resolved the situation, “He was so rude and careless with Harlowe, I actually left mid appointment. I called the main scheduling and asked to see a new neurologist, and I had some requirements: I wanted a woman, who had young children, who had a heart (not just one that beats), that was good at explaining things that we didn’t understand, was kind and had patience. If they did not have someone like that, I would go elsewhere.” Erica stated that they would make an appointment to see another neurologist, a doctor Alexiandris Lutely. They hoped for the best and Harlowe would have an EEG performed on her on Friday the 29th of January. The test was done at 2:15 pm and they would hear back at five in the evening. They had seen that Harlowe did, in fact, have epileptic activity going on. This further revealed the ignorance surrounding the staff at the ER that refused to order the testing. Unfortunately, it would be the neurologist that Erica walked out on that would read the EEG. He would decide to leave it to a nurse within the department to inform Ryan and Erica of the results. This would leave the nurse in a bad position as she wasn’t able to answer Ryan and Erica’s questions. She did tell them what medication she was calling in for Harlowe to begin taking. She could discuss the side effects of that particular medication but not why it was chosen. 

Erica wondered, “Was this the best medication for her?” The nurse was also not able to go through the results of the EEG and said that the doctor would have to go through it with them. This was disappointing and heartbreaking at the same time. After a good cry between herself and Ryan, Erica would go get the medication prescribed which was named Keppra. She wasn’t about to start giving it to her daughter though until she knew more about it. She first did a Google search for Keppra to learn everything that she could about it. She then turned to social media to see if there was a Facebook group for toddlers who have a seizure disorder. She found a group, joined it and started asking questions. She wanted to know more about the type of seizure that Harlowe was having and she wanted information about the Keppra that was prescribed. I’ll share what Erica had to say as she reached out to the people in the group and also what would take place afterwards, “So many gracious, kind parents had so much information for me through their lived experience. It was amazing. We decided to hold off on giving her the Keppra until that Monday when we talked to an on-call pediatric neurologist, who could answer all of our questions.” Ryan and Erica felt so much more comfortable with the new medication once all of their questions and concerns were addressed. They started Harlowe on the Keppra as soon as this took place. Soon after, on the 5th of February, Erica took Harlowe to meet with Doctor Lutely. This meeting was very comforting for Erica.

---

​News Not Wanted

Little lady!

Together, they went over what the medication choices were if Keppra wasn’t a good fit for Harlowe and they also went over her medical history. The doctor wanted to know if Harlowe had ever experienced a serious head injury or an illness that had an extended high fever involved. The doctor also asked if there was a family history of epilepsy. After she learned that the answer to all of these was no, she wanted to order genetic testing.  
It was during the week following that a saliva sample was taken from Miss Harlowe and sent to the lab for the genetic test to be performed. Like with any genetic testing that is done, they would have to wait a few weeks for the results. In the meantime, Erica met with Dr. Lutely via telehealth for a follow-up to see how Harlowe was doing with the Keppra. Fortunately, she was doing well with the medication at that time. It was during this time that Harlowe’s 3rd birthday was approaching. Of course, both Harlowe and Erica had both of their Birthdays in the beginning of March. That caused them to make the decision to go somewhere warm during this time of the year. This year, they chose to go to Austin, Texas to spend time with some of Ryan’s family. Erica loved getting to know Ryan’s uncles better before it was time to return to Wisconsin. It was then time to celebrate Harlowe’s birthday number three with a Peppa the Pig themed party. Again, this was a fun time with family and friends as Harlowe was smothered with attention. 
​
​Erica said that Harlowe got golden rain boots, lots of balloons, and a special birthday cake. The Peppa the Pig theme brought with it lots of pig snorting and laughter from everyone involved and it would be another fun day together! Life was still good even though they had the concern over Harlowe’s epilepsy. Certainly, they would get things figured out as life went on. Looming in the days ahead however, was news that would bring great dismay. With it, life would become a whirlwind of change, unlike anything they could have imagined. The weeks since Harlowe’s test had been sent off would come and go and the family would then be contacted. It was on Friday, the 2nd of April that Erica would receive a call from Doctor Lutely’s nurse. She was told that it was required that they both come in for an emergency office visit and that this was not an option. She was also told that it would be best that they find childcare for Harlowe so that they could come alone. One would have to have the feeling that this was serious and indeed it was. In fact, that day would turn out to be the worst day of Ryan and Erica’s life. I’ll let Erica explain what took place as they arrived at the neurologists office and the doctor entered the room, “She came into the room with red rimmed eyes and we knew it was bad. She just got right to it, while tears ran down her face. I asked for a doctor with a heart, and that’s what we got. She explained that Harlowe’s genetic test had come back with results of her having Late Infantile Batten disease, CLN2.” There are not many people who will know about this disease which is rare and fatal without being told about it. 

Doctor Lutely would have to explain the course of the disease to Ryan and Erica and that had to be painful for her. Here is how Erica explained what was said, “The TPP1 gene was mutated, and that mutation stopped Harlowe’s brain cells from clearing out waste while she slept every night. The results of that would mean that the brain cells will fill with waste, and eventually be killed off. This happens slowly over time. It will attack her nervous system. She will eventually be wheelchair bound, blind, early onset Dementia, she will lose the ability to swallow, and eventually the ability to be able to breathe on her own.” Harlowe would have a shortened life expectancy of between 7 and 12 years of age. How was this possible? How could a little girl who had reached her early milestones with no problem and who was so full of life be given such a horrendous diagnosis. The words spoken by the doctor were so surreal. How could a person wrap their mind around them? Those words brought shock and great dismay. Once the meaning was understood, the pain which was deep then set in. Erica shared. “What was she even saying? Truly, what was she saying? I couldn’t understand. I couldn’t breathe. I was in disbelief. What? Devastation is a mild word. Out of body experience is a way to explain what I felt. Shock. Disbelief. Denial. Then pain. Deep deep pain. It was so painful I couldn’t breathe. I was numb.” How could this be happening? This child was not planned but only because they thought that having someone like her in their lives was not possible. 

---

Just beautiful!

​Erica was overjoyed with being a mom and both her and Ryan were experiencing a type of happiness not expected. To go from those types of feelings to this diagnosis was a shock and so disheartening to say the least. Ryan shared that it was as if his heart had been ripped out when he was told that his daughter had Batten disease. It was so surreal and as if he was trapped in a bad dream. How could this be real? Harlowe was healthy overall. She could do most anything that you would expect from a healthy child. How was this even possible? The doctor shared what was some good news and that was that there was a treatment available for this particular variant of Batten disease. It wasn’t a cure but it would slow down the degeneration that she had described to them. It was using a solution named Brineura and this would be used to take the place of the enzyme that was missing. Miss Harlowe would have to have a port surgically implanted in her brain so that this solution could be received every two weeks. There would be a choice to be made. The treatments could be received at RUSH hospital in Chicago or in Madison, WI at UW Children’s Hospital. The doctor needed to know what they wanted to do right away. Ryan and Erica chose to take Harlowe to Madison because they had friends there and also, because the traffic to and from was much more tolerable. The doctor was adamant that they both had to take time off through the Family Leave Act. She didn’t leave this as a decision for the couple to make. The doctor insisted on it.  

Ryan was honest and open with me. Initially, he felt crippled by the diagnosis, not knowing what to do next. He himself had the same feelings that are experienced by every Batten parent. There was, however, no time to waste as action had to be taken. They needed to get started as quickly as possible. Ryan credits Erica’s drive as Harlowe’s mom and advocate for setting the wheels in motion. From there, life became a whirlwind of new events. For Erica’s part, she gives the credit to Dr. Lutely for driving things forward. Erica shared the following concerning that critical time in the process, “Because this information was too destroying to try to function like a normal human being in our regular lives. The next month was all going to be about Harlowe and all her medical needs. She (Dr. Lutely) made the appropriate decision. I will forever be grateful and thankful for her. Her quick diagnosis has made a world of difference in Harlowe’s health today. She is a genuine angel in our eyes.” Ryan and Erica would leave the office right after the diagnosis with their hearts broken into pieces. From there, they went home to Harlowe’s grandparents who had been watching her and their hearts were then broken as the news was shared with them. Everyone who heard of Harlowe’s plight after that was heartbroken as well. How do you look at a young child like Harlowe and not have that happen to you once you know what it is that she is battling. It happened to be Easter weekend right after the news was received. According to Erica, she and Ryan were both zombies that weekend but family and close friends rallied around them. 

---

No Time to Waste

This was as their world had been “turned upside down.” There was however, no time to waste and as Erica again put it to me, “they had to hit the ground running.” There was no time for self pity, only action for Harlowe’s sake. The family would be contacted almost right away by their new neurologist in Madison. Erica shared that he was incredibly kind and also welcoming to them. Another MRI would be scheduled for Harlowe in order to help the neurosurgeon with the placement of Harlowe’s port for ERT. How life would change in such a short time. This was all part of the shock factor that they would experience. The new order of things would take place quickly but there was no choice in the matter. Doing things in a quick manner meant lowering the risk of Harlowe’s regression before getting her first Brineura treatment. The MRI would be scheduled for the very next Wednesday and then the port placement surgery would be that Friday, April the 9th of 2021. Wow! The term whirlwind would be correct. It all happened so quickly and without any hiccups. There would then be two weeks to heal and then the first treatment would take place on April the 23rd. Ryan and Erica would be set at ease somewhat by what they would find once Harlowe started with her treatments. Erica explains, “They already were treating another two Batten patients there when we joined, we were their first girl. They called her their princess. They were all so kind. Such a beautiful group of incredible humans. A very soft landing for this plane crash of a situation.” They weren’t alone in this and they received needed support right away as a result. 
​

Can't share this one enough - The Nissens

One of those two families was the Nissens, Tony and Melissa plus their handsome little boy named Silas. He was also a Batten warrior receiving enzyme replacement. Silas had an adorable little sister named Summer and all together, the four of them were a family. The bond between these two families would be instantaneous and would grow to be even stronger with time. Silas would become Harlowe’s battle buddy and both families would rally around each of them. I don’t want to get ahead of myself in the story though. Once they had time to breathe, Ryan and Erica did what most every other set of parents in this situation would do. They scoured the internet for any and all information about Batten disease. Ryan and Erica watched videos and documentaries and researched gene therapies. Erica and Ryan both got familiar with any therapies that might show promise. They joined a Facebook group for the parents of children with CLN2 Batten and they now met the community that they were all of a sudden a part of. They then joined the Batten Disease Support and Research Association (BDSRA) and any other Batten foundations that they came upon. Erica shared, “This has become our lives. Learning, researching, fighting, advocating and trying to live in the present because the future will destroy you if you let yourself go there.” A more regimented life would begin as life would begin to revolve around enzyme replacement treatments. That, however, did not keep this little family from having fun together. Erica shared, “We had a chill, but fun summer while we all tried to heal, comfort each other and just wrap our heads and hearts around this heinous diagnosis.” 

After this, it would be all about getting Harlowe Grace all the help that she needed. They would meet with a pediatric psychologist the following August and Harlowe would be diagnosed with having ADHD. She would start taking medication for that as well and it would prove to be a help. She then had better impulse control and a greater attention span. Erica shared that she would still have issues with hyperactivity and Harlowe would have sensory issues as well. Having her in a school setting would prove to be too big of a challenge in 2021 and it was decided to be best to keep Harlowe home while her seizure meds were being figured out. The seizures would continue to be a challenge. Ryan and Erica would split as a couple at the end of 2021 and would separate. Erica feels that this would have happened regardless of Harlowe’s situation. They would however, stay friends and work together as Harlowe’s parents. She needed both of them and Harlowe would continue to feel the love of both of her parents. Harlowe would actually thrive, having two different places to go to while experiencing a happy environment in each place. Everyone, both family and friends, would develop a bond around this little girl. This would also remain true for Ryan and Erica. All together, they would maintain their continued friendship with the Nissen family. This was even to the point that family vacations continued to take place together. Time is still spent with the Nissens, going on vacations and attending Batten conferences together. 

In January of 2022, Harlowe would be enrolled at Penfield Children’s Center where she would receive occupational and speech therapy. This would prove to be a benefit to her with the social interaction and specialized care in a loving environment. The trips to warmer climates continued that same year with a trip to Florida in February. Harlowe would fall in love with roller coasters while spending time at Disney World. She would get to go to Peppa Pig theme park and LegoLand for her 4th Birthday. Erica referred to all of this as Roller Coaster city and Harlowe had a blast! Erica shared, “We finished out 2022 with lots of fun trips, fun times and being a normal family. She was loving day care and still thriving. Strong willed and sassy to the bone, but funny and snuggly as well. She was charming all who met her.” There is no expense that Ryan or Erica would spare for this little girl. In 2023, Erica would take Harlowe to a resort in Cancun, Mexico for Harlowe’s cinco (5th) Birthday and her own 40th Birthday. Along with the two of them were Erica’s parents who Harlowe refers to as her Teta and Papa. That was followed by another fun party after arriving back home. There would be a couple of changes as of August of 2023. Harlowe would change to a new school and also switched to a new hospital for her enzyme replacement treatments. She would now be going to Milwaukee Children’s hospital where she would be treated by another group of amazing professionals. It can be scary when you have to move from a place that you are familiar with but they all adjusted and Harlowe would continue to thrive. 
​

---

Every Moment Valued
​

Warrior princess!

Harlowe was quite the little traveler. She would also go on a week-long Make-A-Wish trip to San Diego in September of 2023. She would visit LegoLand and the world famous San Diego Zoo while there. Anything involving roller coasters was her favorite of course! As of now, everyone including Miss Harlowe, has begun to settle into a routine that includes battling Batten. Erica shares, “Today Harlowe is 6 years old. She just lost her first tooth, and swallowed it! Ugh! She is healthy, with amazing gross motor skill action, a little off on her fine motor skills but they’re still really good. Cognitively she is delayed but slowly progressing in verbiage and communication. She is happy.” That is an important thing! Harlowe still runs and dances, spins and swings to “her heart’s delight”. This little girl brings joy and happiness to everyone around her. Erica continued, “She is such a bright light. It’s so big. We hope it shines for many many years to come.” Almost without exception, dealing with Batten disease changes a person in regards to how they look at life and other people. It certainly changes the things that we feel are the most important. Erica shared with me concerning Miss Harlowe, “I value every moment with her. I take nothing for granted. Every day is a gift.” In most ways, they are much like a normal family. Erica shared that there are still tantrums and meltdowns but also things like play dates and lots of giggling. There is time together at parks and swimming at the pool. Erica continued, “We cherish all the normal stuff that most parents don’t put that much value or notice into when their children’s days aren’t numbered. 

I knew I would take being a parent seriously, that it’s an important job. I didn’t know how much I’d love it, even as it has become so very challenging and hard.” Erica was a single person with no children and she was a part business owner prior to having Harlowe come into her life. She still has business and work responsibilities but some of her priorities in life have had to change. She’s not just a mom now, Erica is a mom to a little girl who has a very unique set of special needs. Erica shared, “My priorities have had to shift and that was a difficult task, but it’s the right decision. It’s where I’m supposed to be and where I want to be. As much time with her. While I have her.” Regardless of what the future holds for her, having this little girl in Erica’s life will change her forever. Others will benefit from this. She also shared, “My heart has grown exponentially. My compassion as well.” Having children in general causes us to look beyond ourselves. How much more when we have a child that battles? Erica stated that she has never been one to shy away from a challenge and it is true that this may be her biggest one ever. Let’s not forget about Ryan here. He and Erica take turns caring for their darling daughter on the weekends and he has had time to reflect as well. How has being a Batten parent affected him as a person? Ryan had worked in law enforcement for 10 years prior to starting his work in the trades. He had witnessed many tragic events in that time and these things could all be matter of fact to him. This tragedy however, involved his own daughter and it affected him deeply. 

Constantly, he thinks about the final outcome but also lives for each moment, each experience with Harlowe. The things that are normally looked forward to will most likely not take place with this little warrior. Instead, Ryan looks for the small things. These are big victories for Harlowe and Ryan holds dear to heart each new thing that she achieves. It bothers him to see parents who seem as though they don’t want children. He would love to have Harlowe completely healthy as their children seem to be. Erica says that everything that her life is about has changed and she is okay with that. She has no regrets and she lives each day to be with Harlowe Grace who is her biggest inspiration. Erica shared, “She chose me to be her mom. This is a soul contract. I will walk this hard life with her hand in hand, because I love her. Love leads this story. Love is the lesson. So we love hard and walk into everything hand in hand.” Ryan shared that Harlowe is a gift to him. His love for her runs so deep that it goes beyond words. It’s as if she is an angel from heaven to him. He agreed with me when I shared a statement that I often use in my writing about these kids…. “Love mixed with grief over someone who is still with you is a profound type of love.” A bond is forming that can never be broken. Ryan is an outdoorsman. He loves to hunt and fish but thought that he needed to give this up with Harlowe’s diagnosis. How could he do something that brought him pleasure when his daughter was fighting this monster? Friends encouraged him, stating that it would help him to deal with things if he took some time out for himself. 

---

Battle buddies - Silas and Harlowe!

This would make him better for those around him and afterall, he does split his time with Harlowe between himself and Erica. This also helps to allow Erica time out with friends on the weekends when Ryan has their daughter. This is helpful to both of them. As we’ve mentioned already, Harlowe is loved by a lot of people, both family and close friends. How could you not love someone like Harlowe Grace? Especially after you know her plight and what it is that she is battling. Batten disease is such a monster! The entire CLN2 Batten community had to have been stunned when a gene therapy trial that showed great promise was shut down. The funding had been pulled by those investing in the trial financially. Kids like Harlowe and her battle buddy Silas may have been prime candidates had the trial been allowed to progress. Both of these children had been diagnosed quickly and enzyme replacement had started quickly for them as well. I mentioned little Samantha from the story titled The Giggle Box at the beginning of this story to make a contrast for what is possible if a quick diagnosis is made. What an angel of a little girl she was! Research had not yet resulted in this type of progress during Samantha’s time of battling Batten disease. There is real hope now and that has to make the wait excruciating at times. The Batten Disease Support and Research Association along with researchers and many of the parents are doing all they can to make this a reality as time is of the essence. These kids just can’t wait and it’s heartbreaking to know they have to even as a cure may be close to becoming a reality.​

---

I had asked Harlowe’s grandmother Teta a question. Simply put, I wanted to know what her love for Harlowe was like. Teta struggled initially in responding because my question brought everything that she had felt since the diagnosis to the surface. For her, the grief that she feels continuously overshadows everything. Perhaps that love for Harlowe that is profound and undying is found in Teta more than any other. Harlowe is with Teta and Papa anytime that she is not with Erica or Ryan. Just like it was with Ryan and Erica, the appearance of Harlowe had been a complete surprise to Teta and her husband Dale. Their other grand-kids live 5 hours away from them and they are all older now. When Harlowe was born, there was all of a sudden this little princess that shined her light into their lives. Teta struggled to find the words but shared this which is perfect, “My only way to describe my love for Harlowe is to say that her innocence takes my breath away. The feeling one gets when after a rainstorm and a huge rainbow appears and that feeling when you're lucky enough to see it and truly be awestruck. I was so happy to hear about her arrival. I felt a happiness like no other.” It has to be a struggle for her to look into Harlowe’s eyes while thinking about the plight that she faces with her. And still, as Erica shared with me, “this is a lesson in pure love”. Harlowe has a lot of life to live and love to give to those who are a part of her life. Hope is still alive but regardless, there is an experience now in having Harlowe Grace that can’t be missed out on. This, while living a love story one day at a time. 

Keep Hope Alive
​

Lesson in pure love!

Erica again shared her thoughts, “Hope is not dead, but emotional exhaustion is real. As we watch our hopes of preserving our most precious asset fade, but it is not 100% dead. We are so close. We just have to figure out how to fight and win this battle.” Ryan is still hopeful when it comes to the promise of gene therapy. He would love for his darling daughter to be cured of this wretched disease. However, he has an attitude that says “I will believe it when I see it.” He also stated that he is but one parent with a daughter that has one of many rare diseases. There are so many others that also need help. It’s so disappointing, knowing that they were so close to a cure when funding was pulled. Ryan also shared that he believes that miracles do happen every day. He holds onto that! There are so many different things that can draw our attention away from these children as a society. There is a lot of trouble in our country and in the world right now. We are also in a big political season as we speak. Kids like Harlowe though, are our greatest resource and we can’t allow our attention to be drawn away from them. We have to allow our hearts to be affected by these stories. The amount of money that is spent paying for things that seem frivolous is staggering. What is the value of human life? Especially when we are talking about the lives of children? How funding could be pulled on such an important clinical trial is beyond my understanding. I know that the answer is complex but honestly, how can some people sleep at night? How would it be for those of influence to know that their contribution resulted in the legacy of curing CLN2 Batten disease? 

Also, science is always advanced for the good of others when something like this is allowed to go forward. These kids truly are the most special, and the most amazing. I may be a little prejudiced in saying this but I do believe what I tell others about these kids to be true. My heart will always remain with this community and all of those who battle Batten and other rare diseases like it. These stories are heart wrenching yet they reveal to us a type of love that is like none other. A profound type of love. The story about Harlowe Grace is another one like this and it needs to be shared. Did I mention the fact that she is a beautiful princess? I appreciate being allowed to take part in that effort. Many are the stories of love and pure devotion that have been written and this is now one of them. Thanks for taking the time to read it! Sincerely,


    ~Greg Lopez~ 
Blogger and Advocate

---