Finding Hope for FRRS1L strives to create a community of Hope for FRRS1L gene disorder patients and families to connect, communicate, collaborate, and support one another.

For support and collaboration with other parents of children with FRRS1L
please join our FRRS1L Support Group on Facebook. 

 

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Our FRRS1L Kids

Stories of their struggle and hope for healing

 

Olivia

Hi my name is Olivia, I am a 10 year old girl with FRRS1L disorder. I started to have seizures around the age of one. Although I cant remember what I was like as a baby, my mom and dad tell me that I was very curious, feisty and playful. Once my seizures started, I lost the ability to sit up and to use my hands. I could no longer play with my toys. My parents went to a lot of different doctors who recommended a number different therapies. Unfortunately no treatments so far have enabled me to once again learn and grow. I love spending time outside with my family, having books read to me, and listening to classical music. I am a bright and happy girl who is always quick to smile when I hear the voice of someone I love.

Arturo

My name is Arturo, and I am a happy 4 year old boy who loves to listen to music, be spun around (the faster the better!), and spend time with my family. Before the age of two, I was able to sit on my own, play alone with my toys, and eat everything I wanted (strawberries were my favorite!). Right around my second birthday, I lost all of my abilities - I could no longer sit unassisted, stand, hold onto things, or eat by mouth. I became really weak and developed epilepsy and a movement disorder that makes it really hard to control my body. I work really hard every single day in my therapies to try to gain some of my strength back. Even though FRRS1L disorder took most of my abilities, I am still the same happy little boy that brings joy to everyone around me.

Everly

Hi, I'm Everly! I love people, books, crafts, smiling, laughing, and dancing in the arms of my parents. I was delayed developmentally at 7 months of age, but was making great progress. I was able to sit up, play with toys, say a few words, eat items on my own, and go fast crawling on my scooter. However, after my 2nd birthday I had my first seizure and within 6 weeks I could no longer crawl or move on my own. I quickly lost my ability to hold my head up. I could no longer control my hands and arms to play with my toys. I even lost my ability to chew and eat my food. I regressed and now need 24/7 help. FRRS1L took my ability to coordinate, plan, and move my body, but it didn't take away my joyful spirit and heart inside. My family and friends see me and know me through the ways I have learned to communicate with my sounds, eyes, and expressions. I even now use an eye gaze machine to speak through a computer. Although I am still learning the computer system, I enjoy using my new voice, until one day I can be cured of FRRS1L.

Providence

Hello, My name is Providence! I enjoy being around family and friends and my favorite thing to do is to go swimming. I also love bright lights, music, stories and interacting with my little brother or classmates. When I was 6 months old my family noticed I wasn’t reaching my milestones, but after a few months of early intervention, I began army crawling, holding my head up and transitioning from bottles to food. After my 1st birthday, my family noticed I would stare off - looking sleepy- while I was eating. Later they found out that I was having absence-like seizures. The first medications I took didn’t seem to help, or if it did, it didn’t last long. Within 3 months time I had 5 hospitalizations; lost my ability to eat orally; became unable to effectively use my arms and legs; I couldn’t hold my head up; and I could no longer focus my eyes. Now, my smiles are few and far between. I have a g-tube to eat, glasses to see, I’m non-verbal, have lots of seizure medications, and several respiratory devices to help my lungs breath easily. You will see my arms and legs wiggling but that is because my genetic disorder - called FRRS1L- also causes me to have uncontrolled movements. Every once in a while I surprise my parents by doing something or making a noise that sounds like a word. One time they caught me on video saying my brothers name! I can still learn things but cannot retain them very long because my brain wont let me. I cant wait to hopefully get treatment, and a cure!

Alec

Hi, I'm Alec! I am 2 years old. I love my family; watching PJ Masks; smiling; laughing with my brothers; and dancing in my parents arms. I was delayed developmentally at 7 months of age, but I was making great progress. I was able to play and make music with my mommy's kitchen tools. I was able to sit up, to stand, to look out the window at the birds chirping, and to babble with happiness along with them. However, after my 2nd birthday I had my first seizure, where I cried because I knew something was not right. Within 6 weeks I could no longer control my body. I couldn’t control my hands, head, or arms to play with my toys. I lost my ability to eat whole food. I even lost the ability to stand by myself at the window, to listen to the birds chirping beautiful songs. I no longer can babble, so my thoughts cannot be heard. I regressed and now need 24/7 care. FRRS1L took my ability to be independent, coordinate, plan and move my body, but it didn't took away my joyful spirit and the great love in my heart. Those who love me, know me through the ways I am learning to express my feelings. They can see that very deep in my eyes there is a soul waiting to tell the world in my own words that one day I will be cured and freed of FRRS1L.

Johan

Hello I am Johan. I am two years old. I love watching nursery rhymes, showering, traveling, and playing with my cousins. At 4 months of age, I was delayed developmentally and was making little progress, so my parents took me to doctor and did several tests. I then started physiotherapy. I found out I have high myopia, and that I am spectacled. At 10 months old I started having dyskinesia. It was then that I found out I have FRRS1L gene mutation. Between 10-20 months old I was able to sit up with little support, play with toys, eat orally. I was a happy baby who laugh enormously to my family’s babbling. However at 20 months, I had my first seizure. After that I had a series of seizures in a month. It was so bad that I was on ventilator support for 2 weeks. After the seizures I could no longer hold my head up and play with toys. I lost my ability to eat my own food and my ability to laugh. Also have laringomalacia. Now after months of support from my doctors and family, I have started to smile occasionally and my laryngomalacia is almost controlled. Wish I could return back to when I had my abilities, so that I can laugh like before. I hope one day for a cure for FRRS1L.

 

Danny

Hi, I’m Danny and I am 21 years old. I was born developmentally delayed, and started to receive therapy at the age of 4 months old. I had silent seizures since I was born, but was diagnosed at the age of 1. For the first couple of years of my life, with lots of support, I was able to sit, hold my head, bear weight, and play independently with books and toys. I slowly and gradually regressed and lost all of my already delayed global abilities, and as I grew older, I was able to do significantly less. I also was a great eater and could chew table foods until I was almost 15 years old, when I lost that ability too, and now I am fully g-tube dependent.  I depend on 24/7 care to meet all my basic, daily living needs. My parents and home-care team supports me every day to continue to be a happy person, and to never lose my joy! I love musical toys, read-along books, being talked and read to, hearing people’s voices and laughs, nature, and watching TV. FRRS1L may have taken my physical and cognitive abilities but it will never take away my happy spirit and love!

Elias

Hello, My name is Elias Ismael Elias. Both my first and last name are the same. I am 8 years old. I have 3 brothers. I really enjoy lots of attention from people especially my family. Hearing their voice and seeing their faces makes me smile from ear to ear. I like listening to music, I like going outside to enjoy the sun. I also enjoy my therapy sessions with my therapist and learning with my teacher. I have amazing nurses who help mom take care of me. I was born big and healthy, however very sensitive to sunlight. At six months I never sat up, but I wasn’t referred to a neurologist until I was 9 months old, where I had my first EEG and started a seizure medication. Around 12 months old I started therapy to help me with sitting. I started to do well, until at 15 months, I lost control of my entire body. My neurologist at the time stopped all vaccines, and sent me for more testing. It took 4 years of testing until we got my diagnosis of FRRS1L. We tried different medications to control my seizures, however we have learned that although we can control the seizures seen by the eye, I still suffer from status epilepticus, which are seizures you cannot see. They happen when I'm sleeping and my EEG is abnormal. Almost as if I was constantly having seizures. I'm not able to tell my family I love them, however I know they can see it in my eyes and in my smile. Hopefully one day when a cure is found I would be able to tell them and hug them.

McKayla

Hi, I’m McKayla Grace and I am 11 years old. Before FRRS1L had a significant impact on my development at the age of 4 months old, I was able to roll over, grab my hands, feet and shirt; make eye contact, focus and follow toys, support my head almost independently, coo, and babble. After 4 months old, my regression was aggressive and I started to have seizures and lost many of the abilities I was developing close to normal, including cognitive ability. I was a great eater until the age of 9 years old when I lost all muscular tone to eat any solid food, and now I am fully g-tube dependent. At the age of 11 years old I had a Tracheostomy and I am currently ventilator dependent. I have nursing care 24/7 and require constant supervision for safety, health, and care of my basic daily living skills. My parents and home care team assure that I am safe, healthy, and happy. I love my IPAD, soft pillows, educational videos, Frozen and Disney movies, and playing and talking to my family and caregivers. I am globally delayed but blessed to be a happy and joyful kid!  

 

Zania

Hi , I'm Zania and I am 17 years old. I love my family , music, crafts, smiling, and laughing. I love when my parents take me out for walks in my wheelchair, and when my mom dances with me. I was delayed developmentally at 6 months of age , but was making great progress. I was able to sit up, stand, play with toys, eat food on my own (loved broccoli), and dance. However, at 18 months old I had my first seizure and within 6 weeks I could no longer crawl, stand, or move on my own. I quickly lost my ability to hold my head up. I could no longer control my hands and arms to eat, and to play with my moms hair. I even lost the ability to chew and eat my favorites foods. I regressed and now need 24/7 care. FRRS1L took my ability to be me, to be independent, to do things the way I wanted to do it, but it didn't took away my joyful spirit and the love that I have in my heart. My family and friends see me and know me through the ways I have learned to communicate with my sounds, eyes, and expressions. I've been learning how to use an eye gaze computer to speak my feelings until one day I can be cured and freed of FRRS1L.

Zyasia… Lovey

Hi, I am Zyasia, but most people call me Lovey. I am 17 years old, and a beautiful young lady. When I was born into the world, my delivery was difficult. Over the next few months of life my parents noticed I was completing milestones, but I was a little delayed. Around about a yr and a half, public services of early intervention was introduced to my family. At 1.5 years old I started becoming unbalanced and was loosing my coordination. At two years old I developed epilepsy. I slowly began to regress, until I lost all my abilities to do my normal activities. I no longer walk or talk; I am Gtube fed; and I am fully dependent on someone 24/7. After being misdiagnosed for many years, in 2016 I was finally diagnosed with FRRS1L. It has been by the grace of God that I am still so smiley with all I have had to endure. My family says my smile brightens the darkest room. My mom says my life has already touched many lives including our family. She says I teach them to continue to push forward; and through the darkest moments to always smile! We know God has a special plan for me and have faith and hope in His promises for my life, that one day, I will be able to gain the abilities I’ve had and more! My family and I keep hope and faith, and look forward to a cure!

Elias

My name is Elias, and I am 23 months old. I love swimming and I love listening to music. I laugh very loudly when people joke with me. I like to ride in my stroller and watch cars. I love cars! At 4 months it was discovered that I was developmentally delayed. I started physical therapy and gained many milestones, but then at 16 months I started slowly losing my skills. My family wishes for a speedy recovery for us FRRS1L children.

 

Gabriel

Coming soon…

Emilio

Hello, my name is Emilio. I am 5 years old. When I was born everything was normal. When I was six months old I showed developmental delay, I had poor control of my head and back, and this is when we started the search for what was wrong. We visited different doctors, neurologists, geneticists but every test came back normal. I was showing progress with physical therapy, I could roll, hold my head better, sit with support, eat, play with toys and watch my favorite TV show. At one year and a half, the seizures started. I lost my ability to grab my toys, my blanket, roll, hold my head up, but I could still smile and pay attention to my TV show. With time I have lost more abilities, I can’t eat by myself, I can’t make good eye contact, but me and my family never give up. I work hard on my therapies and we are hopeful for a cure.

Jediael

Coming soon…

 

Jeremiah

Hi! My name is Jeremiah and I am a bubbly and happy 15 month old. I love being able to see familiar faces clearly now that I just got my cool, new glasses. I love my mommy's kisses and cuddles. I enjoy bright lights, music, and when my older sister and brother make me laugh by just talking to me. My mom and dad started noticing that I was developmentally delayed around 6 months. I was having a hard time lifting my head up while doing tummy time and I wasn't able to keep my head up if I was sitting on someone's lap. I started early intervention, worked super hard and started progressing. I started lifting my head up high while doing tummy time, prop sitting on my own even if it was for a short time, rolling over on my own and those are just a few of the many things I progressed with. Just a short time after my first birthday, I was diagnosed with FRRS1L. It has been busy since then with lots of medical appointments and different therapy sessions. At this time I'm not having seizures (or at least any noticeable seizures), but I have started to lose some abilities - I'm no longer able to hold my bottle on my own and it's been hard for me to use my arms and hands to reach and grab toys. I also don't roll over on my own while doing tummy time unless someone helps me. FRRS1L has no cure, but there is hope for one and I'm looking forward to that day! In the meantime, my family is doing the best that they can to make sure I am still able to enjoy every day life and keep a smile on my face.

Iman

Hi, I'm Iman! I love people, books, sleeping, smiling, laughing, and going for a walk. I was delayed developmentally at 18 months of age, but was making great progress. I was able to sit up, play with toys, eat items on my own, and go fast crawling on my scooter. However, before my 2nd birthday I had my first seizure and within 6 weeks I could no longer crawl or move on my own. I quickly lost my ability to hold my head up. I could no longer control my hands and arms to play with my toys. I even lost my ability to chew and eat my food. I regressed and now need 24/7 help. FRRS1L took my ability to coordinate, plan, and move my body, but it didn't take away my joyful spirit and heart inside. My family and friends see me and know me through the ways I have learned to communicate with my sounds, eyes, and expressions.