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Author Archives: Yolaine Dupont
Freddie & Noah, 14 – United Kingdom
Noah & Freddie are now 14 years old. Noah was diagnosed with PVNH at 2 years old following an MRI for his seizures. Freddie was diagnosed when he was 5. We later found out they have X-Linked PVNH associated with … Continue reading →
MEET ELANI, 3 years old – USA
Elani is strong, smart, witty and capable despite being nonverbal. Continue reading →
MEET MARTINA – ITALY
I was born in 1982. I had my first clinical diagnosis in 2013 and genetics’ confirmation in 2019. My parents were tested in 2020 and they do not have the mutation causing my PVNH. It’s hard to live with the … Continue reading →
MEET FINLEY, 13 – UNITED KINGDOM
Finley is a lively teenager who leaves an impression on all who meet him! He has always loved books but his latest love is teaching himself Spanish. He has some struggles too, his left side is weaker and he finds … Continue reading →
ETHAN, – UK
Hi, I am Anna and I have the honour of being Ethan’s mummy. We live in Merseyside, UK. In 2017, I found out I was pregnant at my 20 week scan we found out we was having a little boy … Continue reading →
MEET ELISE, 13 – CANADA : SUBCORTICAL BAND HETEROTOPIA (SBH)
Our family uses social media to advocate and raise awareness of Elise’s rare neurological disorder Subcortical Band Heterotopia (SBH) and Epilepsy. We have connected with other families around the World who are also on this challenging journey. SBH causes intellectual … Continue reading →
Posted in #MarchOnPVNH, Stories
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MEET SAGE, almost 2 years old – USA
Sage brings so much love and joy into our home and has taught us to treasure all the small strides forward. Continue reading →
Posted in #MarchOnPVNH, Stories
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Tagged #PVNHawareness, Aicardi Syndrome, Infantile Spasms, MarchOnPVNH, Sage's story
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Ella’s Story 2022 Update
I’ve got a teenager! My daughter Ella Dupont Bedassie was born full-term at 39 weeks on August 7, 2008. Although she’d be slow to grow in-utero, Ella was born naturally and by all appearances healthy at 5 lbs, 6 oz. … Continue reading →
Posted in Stories
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Tagged Angel, Filamin A, FLNA, Interstial lung disease, PVNH, X-Linked PVNH
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Everlee’s Story
At 2 days old, we had no idea that a CT would change her life forever. Continue reading →
Posted in Stories
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Tagged cortical malformation, Everlee's Story, Filamin A, FLNA, Lung disease, multisystem, PVNH, X-Linked PVNH
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Sage’s Story
The following month was a blur of doctor visits, trying a few different medication options, but after she was still having multiple seizures a day, and one day they just felt different to me, we were back in the ER and ended up being admitted overnight for observation because she was started on phenobarbital (can cause decreased breathing and heart rate, so they needed to make sure she coped with it ok). Later that same week she had an MRI. Continue reading →
Posted in Stories, Word PVNH Awareness Day
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Tagged cortical malformation, PVNH, Sage's story, Sage's story 2022, Stories
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