CPN | Hemsley/Samuelson Family: "WillowStrong" through Niemann-Pick Type C

Hemsley/Samuelson Family: "WillowStrong" through Niemann-Pick Type C

Kennedy, Krystal, Shadd and Willow

My Daughter, My Warrior and Finding Strength in the Chaos by Krystal Samuelson

Willow Alexis Hemsley was born on December 27th, 2016. After years of being told I most likely wouldn’t be able to have children due to my own health issues, I had given birth to the most beautiful little girl. To add to the excitement, my brothers both had children born at about the same time. Willow was set to have lifelong best friends.

While Willow’s cousins developed and hit their milestones on target, Willow was always behind. By 9 months of age, Willow finally started sitting up on her own. However, at 18 months she was still not attempting to walk unassisted or even bear any weight on her legs. Naturally, I became concerned about her progression. I feared what the future might hold. Was something bigger wrong or was she just doing things at her own pace like others wanted me to believe? Was this going to change the rest of our lives? How hard was the fight going to be to get there? I doubted myself a lot during this time, wondering if I was just being a paranoid first-time mom or if my intuition was correct.

At about three, Willow hit her first regression. REGRESSION – just saying that word made my heart ache. My perfect little baby was now going backwards; my hope was diminishing while we still had no answers. I have to admit that with every day that went by my anger and frustration grew. Although we had a team of nine doctors helping us, I always felt like not one of them had any urgency behind their efforts. Our appointments were always months apart and everyone would refer to her case as “interesting”. I felt like I was the only one researching her symptoms, following-up on appointments and begging for tests to be done. With every negative test result, I didn’t know if I should cry because we still didn’t have answers, or be excited because the terrible condition we just tested for was negative. Willow was now tired all the time; all she wanted to do was sleep. She preferred to sit on the couch and watch kids her age play rather than play with them. She went from pushing walkers around the house and scooting around on her ride on toys to just being still. The silence this created made me miss the chaos. I missed my brave and wild toddler. People talk a lot about the “threenager stage” and how awful it is. What I wouldn’t give to have experienced just one more day of that with Willow. I long for Willow to be able to communicate with me in more than just one-word phrases or eye gazes. I realize now, you never realize how the things that drive you crazy are the things you will miss the most – never take those chatty, rambunctious toddlers for granted.

Not only did Willow’s gross motor skills slip, but her fine motor skills started to go as well. Feeding herself was becoming challenging as she dropped most food on her lap before it made it to her mouth. We eventually had to move her back into a high chair and began having to thicken her liquids to prevent aspiration. I was struggling and searching for answers, spending hours online every night researching. I joined every Facebook group I could find hoping someone’s story would line up with hers and I would have a path to follow. I avoided family parties like the plague, seeing Willow’s cousins that were her age run around and be a “normal kid” literally made me feel like I was being punched in the gut. With every get together, I put on a brave face because I didn’t want my family to see how sad their full ability kids made me. It wasn’t their fault and I didn’t want others to feel bad for me. However, I was depressed and seeing what Willow should be was HARD. It was not until very recently that I opened up about how hard this was for me to my family. Looking back, I realize they knew all along and I should have opened up sooner. This is just a subject that not even family always knows how to talk about.

We put Willow in physical, speech and occupational therapies hoping to slow the regression and keep muscle strength; but after three months we pulled her from all of these therapies. She was miserable. She hated being there and, regardless, she was still going backwards. So I decided to get creative with therapy. We found a local woman who was willing to let Willow ride horses at her house a few times a week. I had read that hippo therapy was great for core strength and — because you encourage the child to communicate with the horse, telling them to go, stop, and thank them for being a good horse — it doubled as speech therapy. Willow fell in love with horseback riding and I felt a light for the first time in a very long time. Not only was Willow happy but I could see her core strength improving.

We soon added another enjoyable therapy – dance.  The same wonderful woman who let Willow ride also owned a dance studio and was willing to work with Willow’s “different needs”. We built Willow a custom ballet barre that she could hold on to while she tapped since she could not stand unassisted. Willow looked forward to dance class every week. Things were going wonderfully and I felt like we were making steps in the right direction. We were doing what was best for Willow and it was something she deeply enjoyed. I felt less stressed and more like I was following my gut rather than a doctor’s order. Then, Willow then hit another decline; she was now too unstable to stand on her own and we began using a gait trainer at dance. We still had no answers and the uncertainty of when the next regression would hit made me anxious all the time.

In December of 2019, still without a diagnosis, we decided it was time to just start living for Willow, rather than being scared of what was going to come next. We wanted to embrace and appreciate every day we had. We started a #MakingMemories fund for Willow and asked those coming to her birthday party to consider donating to her fund rather than buying her toys. We also started a Facebook page, WillowStrong, to raise awareness about her rare undiagnosed condition and celebrate all of her little wins with those who supported us in this difficult journey. Because of this, I had to start opening up and talking about what was going on. This was hard for me because I was not ready to let others in on how badly I was struggling with the unknown. I am the kind of person who puts on a brave face and creates an action plan, step-by-step. But this journey has no instruction book. I found that opening up over social media was the best outlet for me. I could hide behind a screen and cry my eyes out while I updated her supporters. Being vulnerable gave me peace and I encourage all parents of seriously ill children to do the same when they are ready. People want to be there for you. They occasionally have advice you don’t always care to hear but the best part of social media is you don’t always have to respond.

Willow finally received her diagnosis in April of 2020, at 3 ½ years old – Niemann-Pick Type C. NPC usually take 6-8 years to diagnose because it is so rare and is not on the basic lysosomal panel that genetics runs. I was frustrated and relieved all at the same time. I had been pushing doctors to check for this disease since the very beginning as Willow has a 2nd cousin with this condition. The doctors refused to check her for this because her issues seemed to be more neuromuscular related. It wasn’t until they identified her enlarged spleen that they decided to test. NPC has no cure and the life expectancy can vary. With Willow’s early onset and regression, they assume her form is aggressive, but we are holding out hope for a few more wonderful years.

This diagnosis may not be pretty but now at least I have answers. I know what I can do and how to advocate for my daughter. I now know where to draw the line with treatments and therapies because I know what the outcome will be. Our family has learned to adapt to Willow’s different needs and living everyday like it’s our last has brought our family closer together. We are still working on our Making Memories trips as Covid has put a pretty big halt on traveling. My husband and I are still not sure if we will have more children as Willow requires a lot of attention and time. I am a firm believer that everything happens for a reason. I was given this child because I was worthy of an angel on earth. Her time here may be short but the impact she leaves will last for many years to come. Despite all Willow has been through she remains happy. Her positivity is a light in this world. There is an energy about her that tells you no matter how hard things seem we will get through it. We have got this and we will stay #WillowStrong.

About Willow and Her Family

Willow Alexis Hemsley came into the world on December 27, 2016. At 6 pounds, 11 ounces, Willow was every inch the perfect baby. As she grew, her big blue eyes took in the world around her with excitement. At six months old, Willow was a bright and happy child. She loved trips to the pool and had toes that were almost always pointed. So much so that her mother, Krystal, began calling her “my tiny dancer.” 

After a few months, when there should have been the start of a lot of firsts for Willow—first steps, first words, first tumbles, and first crawls—things began to change. By the summer of 2018, Willow still couldn’t take her first steps, and her physical progression seemed to be coming to a halt. At first, the doctors were convinced that Willow was just a “late bloomer,” and that she would soon catch up to others her age. But Willow was not a late bloomer—and her family knew it. Something was wrong with their daughter. 

When her family pushed for second opinions and better observations, Willows new pediatrician referred them to a neurologist, from there the testing began. Doctors began running tests and ruling out conditions such as hip dysplasia, muscular dystrophy, and Rhett syndrome. Meanwhile, Willow continued to regress. She went from a happy, active toddler to a quiet child. She became a child who struggled to bear her own weight and was losing the strength to feed herself—but not the strength to love or see the joy in the world. 

While doctors continued to fight to find out what was wrong, Willow continued to discover her world. A world that was full of horses, Elmo, oatmeal, and Happy Meals. She learned to string two words together to express her emotions. When her family would ask how she was doing, Willow would reply, “Happy day.” 

After two years of extensive testing Willow finally received her diagnosis in April of 2020, Niemann-Pick Type C. NPC is a rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and other fatty substances inside of cells. This leads to the abnormal accumulation of these substances within various tissues of the body, including the brain. The accumulation of these substances damages the affected areas and causes the cells to die.

Willow’s biggest strength is that “she stays happy all the time. It doesn’t matter to her that she’s regressing. She has amazing resilience, and her attitude towards life is amazing.” Our family attended our first NNPDF conference in July (virtually of course) and is currently in the process of investigating clinical trials in hopes of extending Willow’s life expectancy while not compromising her quality of life.