Feb 3, 2025
Tell us about yourself and the patient in your life:
Je me présente Charlène la maman et Christopher le papa d’iris .
On habite en France, notre département le 53.
Iris a deux grandes sœurs ( Ellena et Adèle).
Iris a fait ça première crise de convulsions visible a âge un mois et demi.
A ce jour iris pris 4 médicaments différents par jour et des séances de kinésithérapie, psychomotricité, orthophoniste, ergothérapie, équithérapie… Et de rdv médical.
Iris aime beaucoup les histoires, la musique, les balades, jouet ….
Iris est une petite fille très calme et rayonnante.
What is your hope for the future for your loved one:
On espère le mieux pour Iris et les autres enfants.
Trouver un traitement pour guérir.
Jan 22, 2023
Tell us about yourself and the patient in your life:
Cora turns 10 this year and is in the 4th grade. We live in Littleton, Colorado. Cora loves music (especially the guitar), horseback riding, swings, swimming and playing with cars. She is happy, curious and funny and is a great big sister to Chloe. Her favorite foods are hummus, meatballs and scrambled eggs with salsa. Cora got her SMC1A diagnosis when she was 4 years old. She uses an AAC device to communicate but she’s also very good at getting her point across! If you scratch her back or rub her feet, she’ll ask you for more over and over again. 🙂
What is your hope for the future for your loved one:
I hope that Cora is surrounded by a loving and caring community of friends and family and gets to do the things that make her happy. My biggest wish for Cora is for her to be able to express her feelings, thoughts and needs in a way that other people can understand her. Her laugh is contagious and she lights up our home. Cora is one of the strongest people I know, along with all our SMC1A sunshine sisters.
May 25, 2022
Tell us about yourself and the patient in your life:
My beautiful Sundays seizure’s started just after her 1st birthday before this she hit all the milestones and didn’t show any signs of the SMC1A mutation.
Sunday started to have clusters of seizures every day up to 20 in 24 hours, these were very hard to control. After 3 different epileptic medications we finally managed to see a difference.
Sunday is now 3 and only had 3 siezures in the past year. She started walking a 16 months old and now try’s to run!
Sunday has made so much progress since the seizures have gone.
Sunday is still non verbal but I have every belief that she will communicate with me one day.
She is the most amazing little girl.
Sunday has now started nursery and she absolutely loves it, she recognises all the staff and loves to cuddle them all.
What is your hope for the future for your loved one:
My hope is that one day I will hear Sundays voice and be able to communicate with her.
Jan 29, 2022
Tell us about yourself and the patient in your life:
Ava just turned 1 and was diagnosed with a de novo SMC1A variant. Her condition is currently unnamed as she’s the first documented case so she’s been given the name SMC1A encephalopathy. She is a working hard to get stronger every day and though she’s still nonverbal and not mobile she is a very sassy and loves to yell. Ava is a super silly little girl who loves to play and be the center of attention.
What is your hope for the future for your loved one:
My hope is that Ava can participate in studies to help bring understanding to this condition and raise awareness for others who have rare genetic disorders. As there’s no precedence for this, all treatments are experimental for her so we hope that we find something that will help her to learn to walk and talk some day. In general, we just want a happy and healthy life for her and to provide as much support as she needs.
Jan 28, 2022
Tell us about yourself and the patient in your life:
We live in Poland. Me and my husband have 3 children. Lena is the youngest (13 years old). She is a sweet, cheerful girl. She likes to play on her own, but the presence of her family is important to her. She is not able to make friends but can be very affectionate to the people she’s close with. Lena is able to walk on her own, however she is not self-reliant when it comes to the activities like eating and other physiological needs. She enjoys travelling.
What is your hope for the future for your loved one:
We hope that she won’t suffer from epileptic attaches or that they as rare as possible. We would love to hear her saying ‘mom and dad’.
Jan 25, 2022
Tell us about yourself and the patient in your life:
Honor is 9 years old, her seizures started at 4 weeks old. She lives with her big sister and Mum & Dad in Newcastle, England. Honor loves music, being outside on walks, school and being comfy in bed!
Honor’s smile and giggles bring us joy every day!
What is your hope for the future for your loved one:
We hope that a treatment for SMC1A is found so that Honor can live a happy, healthy and seizure-free life. It would be amazing if she was able to learn a simple and effective way to communicate her wants, needs & desires in life.
Jan 23, 2022
Tell us about yourself and the patient in your life:
Avery was born in Mount Shasta, CA; she is 8 yrs old. She is a fun-loving, free spirit. She has a rare genetic mutation on her SMC1A gene; it causes her to have uncontrolled seizure clusters. She is nonverbal and developmental delayed. Avery started having seizures clusters at the age of two; they are medicine resistant. Avery is one of the strongest little girls I know.
There is very little known about this mutation at this time. Research is needed to help these girls get a better treatment that could improve their lives immensely and give us hope to control the seizures that have been resistant to medications and help with their behavior and overall development.
Avery has been seizure-free for a few months now, which we are blessed and grateful for. Her condition is still ongoing, with so many unknowns. We have had good and bad days, but we know Avery will do what she wants to and is physically able to. She has been playing with board books and engaging with us a little more than before, so for that, we are grateful.
We’re still having issues with her bowel routine and trying to control her pain, but we hope to find some answers with a new specialist at UCSF (San Francisco Benioff Children Hospital).
Avery is beautiful 🙂 and a sassy child who has developed a way to throw tantrums and get her way while in public. Can you imagine a two-year-old tantrum in an eight-year-old body? She is getting bigger and heavier has become a bit more challenging, so that will be one of our concerns as time goes on. With time we’re hopeful that she understands and helps. Prayers and positive thoughts are always needed.
What is your hope for the future for your loved one:
For Avery’s future, we would be grateful for a treatment plan to accommodate her needs. As she grows older, I ask for guidance in expectations, plan of care, resources.
We hope that we can offer and build a home that’s more adequate for her needs this year, single level with a walk-in shower. This would be a true blessing for our family.She loves and enjoys the out doors , going on nature walks and being her fun loving self.
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Jan 21, 2022
Tell us about yourself and the patient in your life:
Ella is 4 years old and lived in Upstate South Carolina. She went to be with Jesus on Sunday, June 27, 2021. She was the most amazing little girl, and the strongest person we have ever known. We love her so much!
Ella Grace was born in Greenville and was an explorer at heart. She loved to go new places, and was always ready for an adventure. She enjoyed car rides, music, and going camping in her RV with mom and dad. Her absolute favorite activities were swimming, especially aquatic therapy, and swinging in her little blue swing on the back porch. Her favorite foods were marinated salmon, quiche, and cheese, and she could eat her body weight in cheddar!
Ella Grace was a cherished student at the Meyer Center for Special Children. She absolutely loved her time there, and worked so hard in all her classes and therapies.
Ella started seizing when she was 4 months old, and her seizures generally came in clusters every three weeks. Despite multiple different daily medications, as well as several rescue and as-needed meds, Ella’s seizures were very difficult to get under control, and she ultimately passed away from SUDEP.
Ella was nonverbal, but could make her needs known through some vocal sounds, and some gestures, such as reaching up her arms to us when she wanted to be picked up, which was often. She loved to make happy noises and would make singing noises that were so so special to anyone who heard them. She had started using a few signs at one point, and had even said mama and dada, but due to her frequent seizures, she lost those skills around the age of two and a half. She required thickened liquids and modified textures but could take everything PO. She walked independently, starting around 22 months old, and loved to climb up stairs.
What is your hope for the future for your loved one:
We know our precious Ella grace is safe and whole and healed in heaven, and we can’t wait to join her there someday. My hope for the future of other sweet girls with SMC1A is that we can find a treatment, and better ability to control their seizures in the meantime, so that they can live a long, happy, healthy, and joy-filled life, seizure free.
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Jan 20, 2022
Tell us about yourself and the patient in your life:
Sloane had her first seizure at 9 weeks old, and when she was 5 months old, she was officially diagnosed with this very rare SMC1A genetic disorder. Sloane is now 2 and a half years old, and as she’s getting older, we’re observing that her case seems to be quite severe. She’s non-verbal and fed via g-tube. She’s still working on strength for tummy time, holding her head up and supported sitting. She’s on five anti-epileptic meds + CBD + keto diet but still has breakthrough seizures almost daily. That said…she’s the strongest little girl we know and we’re so proud. She’s smiley, loves laughing, music and story time, and her big brother is her favorite.
We live in Milwaukee, WI and her care team at Children’s Wisconsin is top-notch. We work closely with the Complex Care team to manage her overall healthcare, as she sees 6 different specialists. She also receives Speech, OT and PT weekly. Her ICU and Neuro nurses and doctors have guided us through our hardest days as a family, and we are forever grateful to them.
What is your hope for the future for your loved one:
We strive to give Sloane and her big brother a happy, stable, loving home. We truly appreciate every good, seizure-free day. We’re blessed with supportive family and friends, and we are so grateful to the SMC1A Foundation and this community of families.
We hope for continued research and attention to SMC1A. Over the past 2 years, I have raised over $19k in donations for the SMC1A Foundation (and $12k in the year prior for the CdLS Foundation, targeting SMC1A research, specifically. This was before the SMC1A Foundation was officially in place). Every dollar raised goes to support the Foundation’s research to benefit Sloane and the other girls fighting this catastrophic diagnosis.
Rare diseases simply don’t have the same awareness, fundraising or research allocated to them, which makes the fight for treatment and knowledge that much harder. I’m so grateful for the generosity of our colleagues, friends and family, as well as matching $ gifts from my employer, Microsoft. The goal is to help accelerate SMC1A research to find effective treatments, and ultimately, a cure.
Jan 20, 2022
Tell us about yourself and the patient in your life:
My name is Sandra and I’m the mother of Alma, a 6 year old girl with a smc1a mutation. Alma had her first seizure at 2 months of age. She is a very happy girl, she loves to play with books and toys but what she likes the most is to be given loud kisses. Alma cannot talk or walk but the hardest for her and our family is seeing her suffer from epilepsy. Alma has an older sister who adores her, her called Telma.
What is your hope for the future for your loved one:
My biggest wish is that Alma don’t have more seizures.
