A young mother was terrified when her baby girl suddenly began experiencing seizures at just six months old.
Ellie Richards, 22, took her daughter Minnie Mae to the GP, who thought the newborn could have a genetic disorder.
But tests revealed her child was born with an extremely rare condition affecting fewer than 500 people worldwide, with only 52 cases recorded in the UK.
Minnie Mae, now three, was diagnosed with haploinsufficiency syndrome, a ‘profoundly challenging neurodevelopmental disorder’.
The condition affects the toddler’s ‘brain, muscles, sleep and digestion’. She was diagnosed with epilepsy at 13 months old and suffers from a weakened immune system, hypotonia (decreased muscle tone) and speech and mobility issues.
In other cases, haploinsufficiency syndrome can cause autism and result in visual impairment, severe or chronic sleeping difficulties, and gastrointestinal problems.
Minnie Mae’s mother was initially told to ‘prepare for the possibility’ that her daughter may never walk or talk. She cannot walk independently, is completely non-verbal and requires round-the-clock care from her mother.
Ms Richards has now revealed the impact that the shock diagnosis has had on her daughter’s life and set up a GoFundMe page to raise money for the MEF2C Foundation, which supports children with Minnie Mae’s extremely rare condition.
Pictured: Ellie Richards, 22, with her partner Harrison, 23, and daughter Minnie Mae, three
Minnie Mae was diagnosed with haploinsufficiency syndrome, a ‘profoundly challenging neurodevelopmental disorder’
At six months old, she unexpectedly had a seizure and she was later diagnosed with epilepsy. Doctors believed Minnie Mae could have a genetic condition, however tests confirmed this wasn’t the case.
‘Nothing added up,’ said Ms Richards. It was only after further investigations that doctors diagnosed her daughter with haploinsufficiency syndrome (also known as MEF2C deficiency) at 15 months old.
MEF2C (Myocyte Enhancer Factor 2C) is a gene that acts like the ‘master conductor’ in the body. It controls which other genes turn on and off during development and is critical in the growth and function of brain cells, muscle cells, immune cells and heart cells.
It occurs when ‘one copy of the MEF2C gene is deleted or mutated, resulting in dysfunction of the MEF2C protein’. In Minnie Mae’s case, it was deleted.
When this happens, the body only produces half the MEF2C protein it needs. Ms Richards said the condition has affected ‘every aspect’ of her daughter’s life and resulted in serious developmental challenges – but there is currently no treatment available.
The mother-of-two told the Daily Mail: ‘Her first seizure was very scary. I had heard of epilepsy before but to see one in person, it was a really hard day for us.
‘She kept having more, sometimes one every month or two, sometimes two or three a month – and they were getting worse. They usually happen when she feels poorly.
‘When we got the call confirming her diagnosis, we didn’t take it in at first. It didn’t make much sense but bit by bit we’ve just had to get on with it. Each child with the condition is very different.’
Haploinsufficiency syndrome (also known as MEF2C deficiency) is an extremely rare condition affecting fewer than 500 people worldwide, with only 52 cases recorded in the UK
Here Minnie Mae (left) is pictured with her 15-month-old sister, Hallie Rae
Minnie Mae was first able to sit up at nine months old, Ms Richards said but she ‘wasn’t able to do anything else’.
She ‘couldn’t crawl, she couldn’t stand or do anything basic that other children can do’. The toddler can crawl now but has to walk with a frame.
Ms Richards, who also has a 15-month-old daughter, said: ‘Minnie Mae took her first independent steps in January, which was amazing. Out of nowhere she walked from one side of the kitchen to the other.
‘We could not believe it and we were so proud, we all cried with tears of joy. She has not done it since but it gives us hope.
‘This is what this journey looks like, spontaneous moments of joy that other families may take for granted.
‘But her condition doesn’t define her, it just makes her that little bit more unique than she already is. She is our special little girl.
‘She’s so determined in wanting to do everything, she’s just an amazing child but she needs 24/7 care because she’s not able to do anything herself. She can’t feed or bathe herself.’
‘This means I’m very anxious 24/7. I worry myself a lot so I’m there all the time in case she has a seizure. Some days are more difficult than others but it’s very frustrating not being able to help.
‘Minnie Mae needs a lot of attention but she doesn’t understand us or have any understanding of her condition.’
Ms Richards added: ‘Despite the emotional and physical impact this condition has, it makes her the strong, loving little girl I am lucky to call my daughter. She is absolutely amazing.
‘It’s my life and I never knew it was going to be like this but I wouldn’t have it any other way. Minnie is my little superstar and I’ll forever be proud to call her my daughter.
‘Minnie is such a delightful, happy little girl with such determination. She loves to watch people walk, she is mesmerised watching their feet.
‘Hopefully this inspires her and she realises that hopefully she is capable of doing that herself too.
‘She enjoys watching us sing, especially if actions are involved and sometimes shows laughter at us dancing.
‘Minnie can find something amusing one moment but then a while after can look at us as if to say “that’s no longer funny, what are you doing?”
‘She has begun to grab hold of us and guide us to what she wants to do, such as over to the bookshelf or wanting us to read out the learning posters on the wall.
‘Minnie really giggled loudly for the first time when she was two. Although obviously we have always tried doing silly things to make her laugh, Minnie’s condition means that she can not express herself properly.
‘Only recently has she begun to smile really widely showing her teeth, whereas before, even though she was pleased or excited, there was no facial expression.
Ms Richards described her daughter as a ‘delightful, happy little girl with such determination’
‘Minnie is also very affectionate. She likes to fall asleep cradled by your side with her hand on your face or even wrapped through your hair.
‘She shows you she loves you in her own little way, pressing her forehead onto ours. She may not be able to say ‘I love you’ but she replies in her special way, she gives the best kisses and cuddles.’
Ms Richards said her daughter may one day be able to live an independent life but at the moment the young mother, who lives at home with her parents, ‘takes every day as it comes’. It’s about ‘if and when really,’ she said.
On June 20, Minnie Mae’s family and friends, around 40 people, will do a sponsored run for the MEF2C Foundation. Ms Richards has already raised nearly £1,200 through her GoFundMe page.
‘We want to raise more awareness of her rare condition and do it for my daughter,’ she said.
Her fundraising page states: ‘Minnie is three years old and at six months old had her first epileptic seizure (which we later found to be a symptom of her condition) so with that and not reaching developmental milestones, she was referred to have genetic blood tests done.
‘The results were that Minnie has haploinsufficiency syndrome. This is caused by having a microdeletion of her chromosome 5q14.3 which affects a gene called the MEF2C gene.
‘This is very rare and less than 500 worldwide are known to have it (52 in the UK). Although in many cases it’s genetic, in Minnie’s it was spontaneous, it just happened.
‘The characteristics of this condition include severe developmental delay, epilepsy, hypotonia, non-verbal and many other features.
‘The condition affects each individual differently as some have a full deletion, some a duplication and some have other conditions too. So progress for each individual varies.
‘But because of how rare it is, the full effects of this condition are still unknown, and they can’t tell its severity until later on in the person’s life.’
Donations towards the charity run will go towards research in rare genetic conditions that affect the MEF2C gene.
