Norwich Evening News: Spixworth woman’s experience living with rare Rett Syndrome
A local mum is trying to spread awareness of a disease that has left her daughter trapped in her own body.
Donna Hunt, 56, lives in Spixworth with her husband, Darren Hunt, 54, son Jordan, 29 and daughter Danni, 26.
The Hunts are a normal family. They have a dog, they enjoy family time and go on walks, but everything changed when Danni was five years old and diagnosed with a rare disease called Rett Syndrome.
Donna said: “When she was little, she would babble and say the odd word here and there, but we did start to notice some odd symptoms.
At first, we were told it was some sort of global delay, and later they suspected autism as she displayed lots of the same symptoms.
When a paediatrician said she wanted to talk to us when Danni was five, we instantly feared the worst, but she said it was something called Rett Syndrome – I had never heard of it.
It’s rare and for the most part unknown, even now I am still learning.”
According to the NHS, Rett Syndrome is a rare genetic disorder that affects brain development, resulting in severe mental and physical disability.
Symptoms can include seizures, irregular breathing patterns, irritability, unsteadiness and awkwardness when walking and loss of ability to use hands purposely – including other symptoms.
Danni is a happy girl, she loves nothing more than watching the Toy Story and Shrek films, her mum said each time she watches them, it is as though she is watching them for the first time – but it isn’t always this easy for the family.
Donna said: “She is non-verbal and so will sometimes display what looks like behavioural problems, but it’s usually because she is unable to communicate, but people look at her like she is naughty.
It’s so hard to get understanding when it is an invisible disability.
She also started off with seizures which turned into epilepsy, which she still has now, but particularly her brother Jordan is brilliant at dealing with these moments, he is not scared at all and just gets on with it.
Another symptom of Rett which Danni displays is hyperventilating, she holds her breath and then will start hyperventilating, she does this quite often and it’s really common among people who have the disease.”
Danni with brother, Jordan
Danni has lots of symptoms, some affect her more than others, but her family help her to medicate and manage where she needs to.
A difficult time for Danni was during the pandemic. As someone at risk, she spent three years indoors and this caused her and Donna great anxiety.
But slowly and surely, they have been venturing outside.
Danni has been attending the Sprowston Hub as she loves socialising, and they have been going out for family walks as and when they can.
A new drug has been tested in Canada for the cure of Rett – and it has given the family hope.
Donna said: “I have been following the cure for a few years. They’ve just tested on the first girl and her symptoms have been greatly improved.
We are focusing on this, and on giving her the best life we possibly can.”
Reverse Rett is a patient advocacy and research organisation focused on delivering treatments and a cure for the syndrome.
Donna and many people affected by the disease are walking the coastal path from Hunstanton to Wells next month in aid of the charity.
You can support Donna and her team by donating through her Just Giving page
You can read the full article at the Norwich Evening News website HERE