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!”

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