My name is Mimi, I live in Edinburgh, Scotland with my daughter Rebekah-Mae. Reebie is 23 years old but, her brain stopped developing at the age of 10 so, she’ll always be a 10 year old with severe learning difficulties. In 2011 she was diagnosed with Periventricular Nodular Heterotopia (PVNH) a very rare congenital brain disorder that (among other things) causes epileptic seizures. 

In November 2025 Reebie received an additional diagnosis of KBG Syndrome (so rare only 200 cases worldwide. https://tinyurl.com/3kp5vwvu, https://tinyurl.com/4f4nyjw2, https://tinyurl.com/3hkcwmp6 This is on top of the PVNH she was diagnosed with back in 2011 when her seizures started which is also rare but thousands of cases have been identified https://tinyurl.com/ymcs8mkv  https://tinyurl.com/2s3cnh3u KBG also causes seizures and now the specialists believe that’s why she gets all types of different seizures which isn’t common at all, most people with epilepsy only have one type of seizures. Reebie’s run the full gamut :-

Focal (partial) seizures which start in one specific area of the brain. They are divided into:-

1. Focal aware seizures - formerly simple partial awareness where awareness is preserved but she’ll walk around opening doors, taking off all her clothes.
2. Focal impaired awareness seizures - formerly complex partial awareness where awareness is affected she’s in a daze and totally doesn’t know where she is. 
3. Focal seizures that evolve to bilateral tonic-clonic seizures.

Generalized seizures - These involve both sides of the brain from the start. Types include:-

1. Absence seizures - brief lapses in awareness.
2. Tonic seizures - where her muscles stiffen, her hands become claw like and she slowly turns her head to the left looking like something out of the exorcist.
3. Clonic seizures - rhythmic jerking, kicking her legs and arms.
4. Tonic-clonic seizures - stiffening followed by jerking.
5. Myoclonic seizures - sudden brief jerks.
6. Atonic seizures - sudden loss of muscle tone where she’ll just drop to the floor, faint and suddenly void from her bladder and rectum.

She’s been in hospital (Edinburgh Royal Infirmary, ward 231 room 002) for a good long time. They’re doing tests, monitoring her seizures whilst reducing her medication, keeping her up all night, and flashing lights to trigger the seizures and see which parts of her brain are firing up so that they can come up with a treatment plan.

We were staggered to learn that there is only one other documented case of someone with both PVNH and KBG syndrome in the whole wide world, meaning, Reebie has become a bit of a guinea pig as a one-in-billions with this ultra rare condition. When the doctors do the rounds in the morning there are about three specialists and 7-8 students peering over Reebie’s monitor and brain activity. It’s absolutely bizarre to watch, like something on one of those medical shows where they’re pointing at things on the monitor and gesticulating excitedly at spotting things. Because some of the things inside or missing from Reebie’s brain are only found as diagrams in medical textbooks. Supposedly, it’s pretty exciting for the students and a great learning experience. 

We need to delve into a course of treatment to entirely ease her seizures. but, this will involve costly medical examinations and surgery. The neurologists are pretty bewildered that all this is in an unassuming little girl’s (well woman but always 10-years-old brain.) She’s been in hospital (Edinburgh Royal Infirmary, ward 231 room 002) for a good long time. They’re doing tests, monitoring her seizures whilst reducing her medication, keeping her up all night, and flashing lights to trigger the seizures and see which parts of her brain are firing up. 

We feel that the medical research and treatment options in the US are far more superior than those here in the UK on the National Health Service. We desperately need to explore those options to help Reebie realize a seizure free life. However, the costs of sending her to the US is proving to be quite prohibitive and the medical costs astronomical. I pray you will find it in your hearts to donate what you can, absolutely any amount will be greatly appreciated.

Please forward this to as many people as you can. Thank you.a

All the best,

Mimi-Beth 

https://www.paypal.me/MimiBeth