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Home » Lose Weight Quickly » Braintree mum’s battle to help daughter, 2, with condition so rare only ‘four other girls have it’ – Essex Live

Soon after little Sadie Chittock was born, it was clear something was not quite right.

Her mum, Rachel Fincham, noticed that she didn't appear to be developing as she should, seemed to be 'floppy' and couldn't hold her head yet despite being over three-months old.

Even from the start, Sadie struggled with feeding and was only putting on a small amount of weight before losing it again.

Over the next few months, Rachel, 23, was back and forth to the hospital with Sadie for tests and check ups to find out what was wrong.

It wasn't until December last year when she was finally diagnosed with a rare and degenerative neurological disease called Pelizaeus Merzbacher Disease (PMD) - a condition which reportedly affects only four other girls worldwide according to estimates.

PMD affects the brain and spinal cord, affecting motor skills, coordination and learning.

Doctors are unable to predict how exactly the disease will affect her because it is usually only found in boys.

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However, physio has proved to be vital in Sadie's progression and in order to prevent her deteriorating.

On the NHS, Sadie can have one physio session a month which has been amazing for her development - but Rachel now says she needs more so Sadie can reach her full potential.

Rachel, from Braintree, Essex, is determined to raise as much money as possible to give Sadie the opportunities she deserves.

Because Sadie's condition is so rare, it wasn't an easy process to find out what she had.

"She was about three or four months when we started to notice she wasn't hitting mile stones that she should have been," Rachel explained.

"The professionals said she's was just little and she will catch up soon.

"She was so floppy, she couldn't hold her head and couldn't do things someone her age should have been starting to do.

"I went to weigh her at a weigh-in clinic at Braintree and they said 'no you were absolutely right to have concerns' and they rang through to the hospital and it went on from there."

Over the next few months, Rachel and Sadie travelled back and forth to Great Ormond Street for tests, where eventually they gave the diagnosis.

"It was hard," Rachel said. "They said they found out very early because people don't normally find out till a bit later.

"But again it's very hard because the type she has, PMD, it only generally affects boys, so again we are in limbo with the doctors because they don't know what she will or won't do.

"There are about five girls in the whole world who have it.

"It's hard that they don't know how she's doing to do or not do but generally they get to do things slowly beyond the mile stones before they start to deteriorate and go backwards."

The National Institute of Neurological Disorders and Stroke explains that Pelizaeus-Merzbacher disease (PMD) is "a rare, progressive, degenerative central nervous system disorder, where coordination, motor abilities, and intellectual function deteriorate."

The disease is a type of leukodystrophy, which affects the growth of the myelin sheath - the fatty covering that wraps around and protects the nerves in the brain. The disease is caused by a mutation in the gene that controls the production of the myelin protein.

Other symptoms of PMD may include slow growth, tremor, failure to develop normal control of head movement, and deteriorating speech and cognitive function.

From as soon as Sadie entered the world, she started having issues with feeding on a daily basis and started to lose weight.

She was temporarily fitted with an NG feeding tube before having a gastrostomy tube into her tummy.

"At the beginning, another thing that concerned us was her feeding because she didn't ever want to eat large amounts," Rachel explained.

"She was born at four pounds five and for couple of months she was putting on tiny bits but then she started losing weight.

"The NG tube was fitted which goes through the nose and then three months after, she had a gastrostomy button fitted in."

The gastrostomy tube has been a massive help for Sadie and she quickly started to put weight back on.

Currently, there is no 'cure' for the disease, although there are preventative measures she can take including physio.

Rachel added: "It was a relief to know what it was, but when we found out what it was, it was almost no different to knowing because they don't know how she is going to be.

"There isn't any cure. There are things you can do to prevent it getting worse too quickly which is why I want to get all the physio.

"If we left it, she would deteriorate a lot quicker."

At the beginning of lockdown, Sadie was also diagnosed with epilepsy, which is known to often go hand-in-hand with the condition.

Twice during lockdown, they were rushed to hospital in an ambulance because of an epileptic fit.

This, alongside her condition, means Sadie needs constant round-the-clock supervision and care, as well as ensuring she eats at her exact meal times.

But none of it stops Sadie from smiling.

"She is always smiling," Rachel said. "She has her days where she has little tantrums, she is two.

"And the tears - she is like an actress the way she switches them on and off!

"She's a very happy girl. She can't entertain herself so you feel guilty for doing the things like housework or having to wash up.

"She wants the freedom. The world hasn't grown up with her yet, she's still tiny."

Every day, Rachel does exercises with Sadie to help with her mobility and strength.

She has also been using online sessions and other tools to help Sadie, which have really helped with her development. But these do come at a cost.

"She loves doing it and she loves sitting up," Rachel said.

"She was so bored of being on her back staring at the ceiling. I would love for her to walk but they say that generally doesn't happen and that's why I am trying to fundraise.

"I bought a vibrating board which is good for hypermobility and it helps her get stronger.

"So I have invested in one of them, but it cost 750 with a discount.

"Then we are doing online physio sessions with a lady in Canada and I want to get her out there to see them when Covid is over."

The online sessions cost 70 each. Rachel has also signed Sadie up for intensive physio which is 400 for a week too.

Private physio classes cost around 60 each, and while it is important the sum adds up quickly.

Rachel added: "It does make a huge difference. Throughout Covid, I could do a lot more with her and she has definitely benefited from it.

"At the beginning of [the pandemic], she could sit up but not sit back up if she fell over but now she can sit herself back up and can turn herself around."

At the beginning of the month, one of Rachel's old school friends, Ben Bailey, offered to help raise money for Sadie.

"The lovely thing about it is I hadn't spoken to Ben since school and he randomly messaged me," she said.

"I had put a post about donations for the boot sale to raise money for her next Sunday and he messaged me explaining he was doing these four half-marathons throughout August and that he would rather donate money to her. It was really lovely.

"It would mean everything to me [for people to donate], just to get her to progress the best she can and for as long as we can."

Rachel is hoping the money donated through both fundraisers can all go towards physio classes every two weeks, as well as plan intensive week-long sessions every now and then.

Sadie is due to be starting nursery this September, where a set of nurses have been trained to look after her.

"I'm really scared and nervous and also very excited," Rachel added.

"She will absolutely love it there, she loves any form of attention.

"I am hoping she will benefit from seeing other kids as we don't have many kids around here and family she sees very often."

If you would like to donate to help Sadie with her physio, please click here.

You can also donate to Ben's JustGiving page here too.

Rachel will be hosting a boot sale to raise funds for Sadie on August, Sunday 23 at Boreham Boot Sale.

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Braintree mum's battle to help daughter, 2, with condition so rare only 'four other girls have it' - Essex Live

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Home » Lose Weight Quickly » Braintree mum’s battle to help daughter, 2, with condition so rare only ‘four other girls have it’ – Essex Live