Patient Stories

Patient Stories

Marinus is committed to mindful innovation to give patients hope and strengthen family bonds.

Their stories fuel our mission to discover, develop and commercialize life changing therapies for children and adults affected by CNS disorders and rare diseases.


kiera

Determined Kiera

CDKL5 Deficiency Disorder

“Our beautiful princess was born with CDKL5 Deficiency Disorder. She has taught us and the world of CDKL5 research so much! Kiera has severely intractable epilepsy. She has seizures every single day, and struggles with communication, not because she has nothing to say but because she has apraxia. Her muscles won’t let her form words and sentences easily, but in her brain, she knows exactly what she wants to say.

If you look closely, you’ll see a strong, spirited, and bright young lady who is locked inside a fragile and broken body!

Just because a person can’t talk doesn’t mean they can’t think, feel, understand, want, need, wish, or hope. Our daughter is alive inside! She is a vibrant and intelligent young lady who has a wonderful sense of humor, love for music, dancing, and the moon and stars. She has more determination than most of the people we know, as well as a heart full of love. She has taught us to never underestimate a child, or the brain’s capacity to re-wire and adapt to the circumstances.”

 


mimi

Forceful Mimi

CDKL5 Deficiency Disorder

“Mimi began having seizures at 25 days old and was referred to our state’s early intervention program before she was even 3 months old. She began therapies at 4 months old. Since then, Mimi’s received physical therapy, aquatic physical therapy, occupational therapy, speech therapy, vision therapy, Anat Baniel Method Movement Lessons, and has just started therapeutic horseback riding.

Therapy has definitely been a process of trial and error in terms of finding therapists that Mimi gels with, but finding those good therapists has been transformational. Mimi’s OT is like our CDKL5 sensai – she just really gets what motivates Mimi and is always coming up with creative, novel ways to get Mimi doing new things. I have this master on my speed dial and consult with her outside of therapy hours on everything. Losing her at the end of early intervention is going to be so hard! Anat Baniel Method was a therapy we started Mimi in around 6 months old. At that time, it was her best therapy. I found traditional PT to be too forceful for such a young baby with so little body awareness, and felt it didn’t help her forge the permanent connections needed for movement at that time. But Anat Baniel Method is so gentle and subtle; I really credit it with helping awaken and orient Mimi to her body. Aquatic physical therapy has also been an amazing therapy for Mimi. She has so much more power in the water, and is able to try out so many different movements she’d never be able to complete on land. I really credit aquatic physical therapy with getting Mimi to walk. Because she’s been in the water weekly for almost two years, Mimi is today a little fish and has actually “graduated” from formal therapy with a physical therapist to adaptive swim lessons. She can swim short distances on her own just using floaties!

The day we got Mimi’s diagnosis is such a dark one in my mind. It was winter, and our appointment was at the end of the day, and it was already dark outside. A doctor handed us a copy of Mimi’s genetic testing results with the words “CDKL5 – Rett-like” scrawled on it, and we had to google what that meant when we got back out to the car. At a follow-up with her neurologist at the time, we were told that the outlook was not good. But Mimi keeps smashing through expectations and showing us that she is a serious force with which to be reckoned. One of the things I love about Mimi is how much she writes her own story. We’ll set therapy goals for her that she clearly isn’t interested in, and work on them for months with little improvement in xyz skill – but then, out of the blue, she develops a new skill all on her own that wasn’t on our radar bc that’s what *SHE’S* interested in. This happened with crawling, with squeezing squeaky toys, with climbing stairs independently, and most recently with becoming obsessed with toy cars. I cannot even tell you how much joy it brings me that my feisty little girl’s first toy obsession is the complete opposite of anything “princess”.

My perspective on Mimi’s diagnosis is something I work on daily. It can be hard reading the reports from therapists and physicians that describe Mimi’s delays as “severe” because I don’t think of her that way. She is just my Mimi, and the way she is is the way I love her. Of course there are moments where her differences come sharply into focus, and the truth is that tears are always coursing nearer the surface than I’d like. I do wish her life – and, selfishly, our life – could be easier. She struggles so much with emotional regulation and sleeplessness. And I have no idea what her future holds, so I just try not to think about that too much. I just focus on what Mimi needs TODAY and then the next bend in the road. But you get a diagnosis like CDKL5, there is a seismic shift in your life, and then you find that the sun still comes up every day and life goes on. And you as a parent have to get on with the activity of raising of your child and helping them live their best life, just like you would without CDKL5.

We recently bought our first home, and had the opportunity to choose and adapt a living space just for Mimi. As much as possible, we chose design elements that allow her to be independent, explore, and have fun. We bought a one-story house with minimal front and back stairs to get in and out of the house and a giant, flat backyard she can roam around and in which she’ll hopefully one day learn to run. We built her a full-size crib with a mattress on the floor and a gate so she can get in and out of bed safely by herself when the gate is open, or be secure when she sleeps. Her bedroom is designed to be CVI and sensory friendly, so that her room is a place where she can always get a break. We used to push a yoga pillow up next to the couch while she was learning to climb up onto it. Her toy bins are placed on the floor so they are always accessible. We’ve removed as many hazards (cords, obstacles to her walking, plants) so there aren’t things lying around which she shouldn’t play with. We try not to rearrange things because Mimi relies heavily on motor planning and spatial memory to get around, rather than direct visual input. We try to give Mimi agency in everything, to help her claim home as her castle, and to make this a place she can truly relax.”

 


amanda

Amazing Amanda

PCDH19 Related Epilepsy

“We were thrilled when we learned we were having a baby girl – adding a little pink to the blue our toddler son brought to our family. Our daughter Amanda was around 7 months old when she had her first seizure, and the notion of “pink and blue” soon took on a new meaning. I’d wait for Amanda to “pink up” after having turned blue from not breathing during her seizures. Soon, our family got used to running in and out of hospitals trying one medication after another.

We worried that we were running out of new medications to try when Amanda would have “breakthrough” seizures during treatments. And the side effects of the medications weren’t pretty.

Amanda is now 28 years old. We call our daughter Amazing Amanda, quite simply… she IS. Her strength and tenacity wows me; she is my HERO! My great hope is that the beautiful girls with PCDH19 will not have to go through 17 years (or more) of seizures like she did. In fact, it is my greatest hope! As a parent, it is so challenging to watch as your child’s life is being taken, with days and weeks missed due to seizures and treatments. It’s true too that your life is taken away as a parent, or at least seems to be. But as with any great love, you adjust, manage, and learn to survive. Our daughter gives us strength and reminds us to always have great hope. I dwell in possibilities.”

– Denise Fabio, Mother to Amazing Amanda

 


sloan

Resilient Sloan

PCDH19 Related Epilepsy

“Sloan had her first seizure when she was eight months old. After several seizures and a variety of treatments we thought the seizures were a fluke and believed she would never have another. Fourteen months later the seizures returned and genetic testing confirmed our daughter has a mutation of the PCDH19 gene.

In addition to her seizures, Sloan is at high risk for autism, developmental delays, and intellectual disabilities. It took some time, but our family has learned to adapt.

Since receiving her diagnosis, Sloan has had many more seizures, been prescribed various medications, and has endured more hospital stays. Despite it all, she bounces back after every seizure cluster and continues to meet her developmental milestones. Sloan surprises us with new skills every day and is the sweetest, funniest, spunkiest little girl our family could have been blessed to have.”

 


brooklyn

Vivacious Violet

PCDH19 Related Epilepsy

“Like many parents, we were on cloud nine the first months of our daughter Violet’s life. Our hearts melted at her first smile, laugh, and words. We had just sent out the invitations to her first birthday party when Violet had another first that was not part of our dream for her: her first seizure. A 911 call introduced us to a nightmare we would learn to call PCDH19 Epilepsy.

In an effort to control the seizures, our daughter has tried at least a dozen medications, some of which inhibit her ability to learn, speak, sweat, and walk. Some even dull her bright personality. Since that first seizure, she has spent too much of her young life in Intensive Care Units, ambulances, and emergency rooms.

Despite the challenges our daughter faces every day, she loves life. She spends time at the park and beach, works hard in school, loves playing with her little brother, and making new friends. As her parents, we make the absolute best of the time she is healthy and happy, and we hope for and work towards a day when our daughter can live without seizures.”

 


g

Creative G

CDKL5 Deficiency Disorder

“G began having seizures at four weeks of age and was diagnosed with CDKL5 Deficiency Disorder at six months old. Our neurologist recommended genetic testing after we failed to find the cause of his seizures and developmental delays. Getting the diagnosis of CDKL5 Deficiency Disorder was bittersweet. It felt good to have an answer, but it was hard when we read about the condition and realized all the many challenges we would potentially face.

The best thing about this diagnosis is the community that we have found online with other families. CDKL5 Disorder impacts a large number of girls, but there are many boys impacted too! We have connected with other families that have boys our son’s age and have developed our own special friendships.

G participates in physical, occupational, speech, and vision therapies. We also attend a toddler music class which he enjoys very much. More recently we have begun making art work to raise money for the IFCR. You can see our art and support us by liking and sharing our Facebook page Art for Hope/Love/Cure.

To newly diagnosed families I would say, don’t despair. G is doing things today that I never thought he would when I first read about CDKL5 Deficiency Disorder. Educate yourself as much as you can, find support from other families, ask questions, and have hope for the many scientific advancements to come!”

 


karly

Courageous Karly

CDKL5 Deficiency Disorder

“When my daughter, Karly, started seizing at two weeks old, I grabbed a camera, recorded it, and brought it to our general practitioner. That started a 14-year journey toward her CDKL5 diagnosis where we met with pediatric neurologists at Hershey Medical Center, Johns Hopkins, Detroit Children’s Hospital, and more. We began an endless loop of MRIs, bloodwork, spinal taps, CAT scans, and PET scans, all of which came back normal, and made me hate that word – “normal.” Because I knew she wasn’t normal.

We couldn’t determine the cause of the seizures, so we focused on fighting their severity. As a nursing baby, Karly became the youngest child ever to start the ketogenic diet. For over a decade, we worked to control her seizures while I stayed up researching until 3:00 a.m. I found Rhett’s Syndrome and Angelman’s Syndrome – her doctor graciously tested her for both; she had neither.

At the time, we had a five-year-old and a three-year-old along with Karly, and while adjusting to my new circumstances, I fell into a very, very dark place. Before Karly’s seizures started, I was so happy. We had three beautiful babies and a new house. But then, her life became nothing but seizing, suffering, doctor’s visits, and horrible tests. I didn’t want to see anyone, I didn’t want to leave the house. Then, one night our young son saw me crying, and asked, “What’s wrong Mommy?” I told him, “It’s just Karly. I wish she was normal like you and Katie.” And he said, without a blink, “She is normal, Mommy. She just does things differently than other kids.” Those words from my little boy’s mouth immediately changed my life and started my healing process. Who was I to decide what was normal? It was my job to love her and do the very best I could. And so I did – we went to Disneyworld, multiple times. She’s been on a train, plane, and a cruise ship. I stopped thinking about myself and how this was affecting me, and realized it was time to make our family whole.

Still, I never gave up on finding a diagnosis. When Karly was 14, I wanted to have her eyes checked again, so we went to a new eye doctor who worked with rare diseases. She referred us to a colleague at the Harvey Institute of Human Genetics who recommended we have one more blood test. I said yes, though I expected this one to come back normal, like the rest. After all, Karly saw her neurologist twice a year and at each appointment I asked what else we can be testing for, and nothing new ever came up.

Two weeks later, the doctor called me back and said, “Karen, I know exactly what Karly has. She is missing the CDKL5 gene.” I thought – Hallelujah! Even if there is no cure, it was a wonderful feeling to know what I was fighting.

The diagnosis immensely improved our support system. We now had a support system of other parents whose children were suffering through the same things we were. I had somebody to talk to who knows my feelings, knows that level of desperation, somebody who really understands. They know I don’t want sympathy, just understanding. The diagnosis also affected the rest of my family. My son decided he wanted to be a doctor to help kids like Karly, and today, he’s on his second year of residency. Karly’s aunt and sister understand the severity of the diagnosis and love to spend time with her, offering my husband and I some much-needed respite time.

Last year, Karly graduated from high school, and as her seizures reduce with treatment, she’s easier to communicate with. I tell people that I have two languages fluently: Karly and English. Karly is not a shell of a person who is just here for no reason. She has things she likes to do, and she shows it. She adores having “girl time” with her sister, who loves taking Karly on special outings shopping or to the movies.

What I want other people to understand is: Don’t ignore her because she’s in a wheelchair and she’s acting differently than your children. If I’m in line at a store and there’s a child staring, I’ll get down beside Karly and say, “Hi, this is Karly. She doesn’t walk or talk because she has a rare disorder called CDKL5, but she likes a lot of things, just like you. She’s normal, just like you.” And that’s what I do. I take every opportunity I can.”

 


amber

Inspirational Amber

CDKL5 Deficiency Disorder

“I remember the day my sister was born vividly. My brother and I wandered onto the ward beaming with excitement. I couldn’t stop smiling. We nervously walked through the curtain and there she was, so small and delicate in my mother’s arms. Although I was young, I also remember her first hospital visit as if it were yesterday. She had her first seizure, and my brother and I didn’t really understand the concept and were worried. We just wanted to go visit her.

I assumed the worst, even though my parents assured me she was going to be fine. When I went to visit her, I didn’t know what to think or do, so I stayed silent and hoped for the best. Finding out she had to stay overnight worried my six-year-old self; I’d never dealt with something like this. Being told she was going to have an MRI and an ECG confused me. I didn’t understand what it meant or what it would do to her. Seeing her with cables and monitors on her was frightening, but I knew she would be strong.

Watching her have a seizure for the first time is another memory that won’t ever leave. Seeing her with stiffened arms and a blank facial expression scared me and left me in tears. As time went on without a diagnosis, the doctors told us she wouldn’t be able to walk, talk, crawl, feed herself, and would be in nappies for her whole life. Being told such terrible things is not easy for any family, but we were determined to deal with it together. Overnight stays in the hospital, tests, and scans all became a regular occurrence. I wasn’t really sure what they were testing for, but I told myself it was all to help my sister.

The results of all the tests came in: her seizures were a result of epilepsy, but her condition was not as simple as that. Already in the first four years of her life, she experienced way more than I had in the 10 years of mine, from hospital visits and numerous tests, to having three-inch needles in her back and countless amounts of medicines, one of which put her in a life-threatening state. Hope for the right diagnosis kept growing smaller until a test my mum requested for two years was finally sent out, and a massive weight was lifted. We had a diagnosis. “Your daughter has CDKL5,” the doctors told my parents, “a mutated gene located on the X chromosome. It mainly affects girls, causing epilepsy, developmental delay, gastrointestinal and respiratory problems.” Hearing she had something just discovered in 2004 that affected only a minor percentage of the population was scary. We knew there would be little research and support.

Now, the biggest concern I have with her condition is a lack of understanding. People have discriminated against her and that hurts, but I’ve learned to ignore it. My sister is the best thing that’s happened to me and since she can’t protect herself, I do it for her.

But having a sister with a disability isn’t always a sad thing. Although she can’t use words, sign language, type or text, just being in her presence makes me happy. Just because she has a lot of ‘things wrong with her’ does not mean that she has a different view of the world. She knows who she loves, she knows what she likes and does not like — just because she cannot say it does not mean she doesn’t feel it.

My sister is my biggest inspiration. She is the light of my life, and as I get older I know my responsibility for her welfare will only increase. I know this is not always the case with other siblings, but even in the worst times she always pulls through with the biggest smile on her face. The doctors said she won’t be able to achieve much in her life, but that’s not true. She has already achieved more than I ever will. And it’s because of my two amazing parents who have invested time, love, and care into ensuring she lives the best life possible, with new experiences every day.

We have come so far as a family and learned so many new things about not just my sister, but about ourselves as well. We know that she won’t ever be what people say is ‘normal,’ but that’s OK. We love her for who she is, and will forever.”

 

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