Rett Syndrome: Mum Speaks About Rare Condition Causing 11-Year-Old Daughter To 'Regress To A Baby' | HuffPost Life

'Googling Chloe’s condition was terrifying.'

Erin Cardiff— PA Real Life

A mum has spoken candidly about a condition that is causing her 11-year-old to “regress to a newborn baby”.

Chloe Miller suffers from Rett syndrome, a condition that affects the development of the brain and means she has up to 80 seizures a day.

The 11-year-old is losing all the skills she learnt as a child and is “unlikely” to ever recover them.

Her mum Sarah Miller, 29, from Leicestershire, said: “The saddest thing about Rett syndrome is that Chloe had skills and then lost them. She used to drink from a glass and now she’s back to a beaker or water bottles.

“Clearly losing skills is very distressing for Chloe and results in some behavioural problems, as she is unable to communicate how she must be feeling in any other way.”

PA Real Life

Sarah Miller and her daughter Chloe in June 2013.

Miller didn’t experience any problems during her pregnancy. But when Chloe was 18 months old, she experienced a seizure completely out of the blue.

“We were on holiday in Tenerife when Chloe had her first seizure,” said Miller, who works in special educational needs.

“I’d never seen a seizure before, so I had no idea what was going on.

“I just remember her eyes rolling into the back of her head. It was terrifying.”

Miller rushed Chloe to a hospital in Spain, but medics told her it was likely to be just a stomach virus.

However, Miller wasn’t convinced and took Chloer back to the doctors once they’d returned to the UK.

PA Real Life

A recent picture of Chloe in summer 2016.

Over the next few years, Chloe underwent tests for many different conditions, all while suffering seizures every couple of weeks.

When she was five years old Chloe was told she had epilepsy, but it was another four years before she was officially diagnosed with Rett syndrome.

The diagnosis came about when a paediatrician noticed her hands were never still and arranged for genetic tests to be done.

“We had the tests done, but didn’t hear anything for six months, so I presumed things were okay,” said Miller.

“But then I received a phone call I’ll never forget. A doctor told me they had a diagnosis and asked for me to come in, but not to come alone.

“When they said Chloe had Rett syndrome, they told me the worst thing I could do would be to Google it.

“Of course, I did, though. The things that came up were terrifying. The life expectancy was poor and it basically sounded like my little girl was going to get swallowed up into a syndrome.”

According to the NHS, the condition affects one in every 10-12,000 females and is rarely seen in males. It unfolds in four stages – early signs and slow development, regression, plateau and deterioration in movement.

Currently, Chloe is in the “plateau” stage, which can last years and involves symptoms such as floppiness of the limbs, difficulty moving around and using hands, and irregular breathing patterns.

Previously, Chloe was in mainstream education, but when she reached nine, Miller said the gap between her and other children “became too wide”. Now she attends a specialist school and her intellect is equal to that of a five-year-old..

Chloe’s seizures mean she’s unable to retain information and quickly forgets skills she has fought hard to relearn.

PA Real Life

Despite facing so much during her short life, Chloe, remains a happy little girl who loves Derby County F.C. and dreams of one day meeting her favourite player, Will Hughes.

She and her mum have been supported by charity Rett UK ever since her diagnosis.

“Googling Chloe’s condition was terrifying, but once I spoke to Rett UK I felt very differently,” said Miller.

“They showed me there is a light at the end of the tunnel, although I couldn’t see it at first.

“The unknown was terrifying. Rett syndrome is so rare that nobody could really tell me what was going on.

“But to other parents like me out there I was to say that there is light and hope. If you fight, you will get support. Rett is only as limiting as you let it be.

“Yes, Chloe has a label now, but she’s still Chloe. She is tenacious, gutsy and a delight to be around.”

Sarah and Chloe are supporting this year’s ‘Jeans for Genes Day’ (Friday 23 September 2016). For information, visit www.jeansforgenes.org/getinvolved.

21 Rare Diseases

Stiff Person Syndrome(01 of20)

People who suffer from this acquired neurological disorder experience repeated, often painful, muscle spasms as well as muscular rigidity and stiffness. According to the National Organization of Rare Diseases, spasms can occur at random or they can be caused by something as seemingly benign as light physical contact or an unexpected noise. The cause of Stiff Person Syndrome isn't yet known, but symptoms can be stabilized with medication. Left untreated, however, a person can lose the ability to walk.

Gigantism(02 of20)

This disease, which according to the NIH is most often caused by a begnin tumor in the pituitary gland, results in an excess of GH, or growth hormone. This causes sufferers to grow abnormally large, not just in terms of height, weight but also organ size. It results in complications like delayed puberty, increased sweating, and secretion of breast milk.

Pica(03 of20)

Characterized as an eating disorder, Pica causes people to eat what the National Organization for Rare Disorders describes as "non-nutritive" things. That umbrella term can include (but isn't limited to) dirt, clay, paper, and paint. Interestingly, it's not unusual for young kids to experience transient pica as a kind of phase, and pregnant women are also known to develop temporary pica cravings. The cause? Unknown. But in order to be diagnosed with full-blown Pica, a person's symptoms must last for more than a month.

Maple Syrup Urine Disease(04 of20)

MSUD, which is passed down through families, is a life-threatening metabolic disorder passed down through families that stems from the body's inability to process certain amino acids, leading to a build-up of them in the body. According to the NIH, symptoms usually surface in early infancy and can include vomiting, lack of energy, seizures, and developmental delays. MSUD takes its name from another symptom -- the urine in affected infants smells like caramel or maple syrup.

Situs Inversus(05 of20)

Situs Inversus is a congential condition in which internal organs of stomach and chest lie in mirror image of their normal body position -- something many sufferers aren't aware of until they seek medical help for an unrelated problem. People with Situs Inversus typically wear some form of identification to help doctors in the case of a medical emergency.

Trigger Thumb(06 of20)

Trigger thumb, or trigger finger as it's sometimes known, causes a person's finger or thumb to get caught in a locked position. According to the Mayo Clinic, it can then stay stuck or straighten with a painful "snap." The cause? It depends. Trigger Thumb is the result of a narrowing of the sheath around the tendon in the problem figure, but that can be caused by a lot of things, including any activity that requires people to grip things frequently. Trigger Thumb is also more frequent in women.

Scurvy(07 of20)

Once the disease of sailors and pirates, scurvy does still exist in the United States, though predominantly in older, malnourished adults. It usually stems from a Vitamin C deficiency, which can result in gum disease, skin leisons, and swelling of the joints. (credit:Getty )

Wilson's Disease(08 of20)

This progressive genetic disorder causes sufferers to store excess copper in tissues, including the brain and liver. Though the Mayo Clinic says that the body depends on copper in order to use iron and sugar, too much of it in the body can have real consequences. Which is why sufferers of Wilson's Disease are prone to liver failure.

Foreign Accent Syndrome(09 of20)

According to researchers at the University of Texas at Dallas, this speech disorder causes people to experience a sudden shift in their accents and though it is known to be caused by things like brain trauma, conversion disorder, or multiple sclerosis, an exact reason behind the syndrome is unknown. Sufferers of FAS dramatically shift their speech in terms of timing and intonation, which often causes them to sound foreign, but they remain totally comprehensible. Documented accent shifts include from American English to British and from British to French.

Carcinoid Syndrome(10 of20)

According to the National Organization of Rare Diseases, about 10 percent of people with carcinoid tumors -- which the Mayo Clinic says are slow growing tumors that produce excess serotonin and usually appear in the gastrointestinal tract or lungs -- get this syndrome. It occurs only in patients whose tumors have metastasized to the liver. The symptoms? Wheezing, hotness, and extreme facial blushing.

Cyclic Vomiting Syndrome(11 of20)

Children and adults afflicted with CVS experience recurrent episodes of severe vomiting, which can last for days, followed by sudden periods of no vomiting. While kids are likely to experience more frequent attacks, adults's often last longer. To date, the cause of CVS is unknown.

Peeling Skin Syndrome(12 of20)

This obscure, genetic skin disorder does exactly what its name implies: causes sufferers to experience constant shedding of their skin. (In some patients, peeling is limited to the feet and hands.) Along with that, sufferers often feel itching and redness -- symptoms that can appear from birth or develop later in life. Although the exact cause is unknown, a mutation in the TGM5 gene has been identified in many sufferers.

Platelet Storage Pool Deficiency(13 of20)

This is a blanket designation for several rare platelet abnormalities, most of which lead to mild or moderate bleeding disorders. According to the NIH, the problem stems having limited granules -- the parts of platelets that, among other things, store ADP -- the energy released when a molecular bond is broken. That reduction in storage space inhibits the platelets' ability to secrete ADP in a speedy fashion, which is thought to be what causes the bleeding. Classic symptoms of a Platelet Storage Pool Deficiency are nosebleeds, excessive bruising, and profuse bleeding in surgery.·

ACDC(14 of20)

Only nine people in the United States are known to have this disease, which was just given a name in a recent study in the New England Journal of Medicine. ACDC, or arterial calcification due to CD73 deficiency, results in calcium build-ups in the arteries below the waist of sufferers and in the joints of their hands and feet. According to the NIH, the breakthrough discovery found that the disease is related to a variant in the NT5E gene.3

Conversion Disorder(15 of20)

This condition, which typically occurs after an extremely stressful emotional event, causes a person to experience sudden blindness or paralysis that can't be otherwise explained. People with mental illlnesses are at particularly high risk and psychological treatment can help lessen the symptoms.·

Ochronosis(16 of20)

Ochronosis results in black or blue external tissues, often the ear cartilage or eye, though it can occur throughout the body. It affects people who suffer from certain metabolic disorders, but it can also be caused by exposure, though scientists aren't exactly sure to what. Not just a cosmetic issue, the affected areas can become brittle and degenerate over time.

VLCAD Deficiency(17 of20)

This condition, which is caused by genetic mutations in the so-called ACADVL gene, keeps people from converting certain fats to energy. According to the NIH, the deficiency often presents during infancy in symptoms including low blood sugar, weakness, and lethargy.

Hairy Tongue(18 of20)

As the name suggests, Hairy Tongue is a condition in which the tongue develops a black, hairy texture. According to the Mayo Clinic, the disease is "harmless" and is caused by an overgrowth of bacteria in the mouth, which can be treated with antibiotics. The NIH reports that hairy Tongue can also present as brown, yellow, or green discoloration. ·

Ochoa (Urofacial) Syndrome, or, Peculiar Facial Expression(19 of20)

This obscure, inherited disorder presents at birth and causes infants to grimace when, in fact, they are attempting to smile. The disorder also includes an extreme urinary abnormality: an obstruction that interrupts the connection between nerve signals in the spinal cord and bladder, leading to incontinence. Though treatment does exist in the form of antibiotics and bladder re-education, some patients can develop renal failure in their teens and 20's, which can be life-threatening.

Progeria(20 of20)

According to the Mayo Clinic, only around 130 cases of this devastating genetic disorder have been documented since it was discovered in 1886. Affected babies normally appear normal at birth, but within 12 months begin to have symptoms like hair loss and wrinkles. According to the Mayo Clinic, progeria is caused by a genetic mutation, but not one that's passed down through families; it's a chance event that affects only one egg or sperm. The average life expectancy for sufferers is 13.

Before You Go

Related

uk parents Family Children child health rare condition

Suggest a correction

|