Toddler with a condition so rare it doesn’t even have a name
Toddler with a condition so rare it doesn’t even have a name: Two-year-old girl is one of nine people in the WORLD to suffer from a disorder that has left her deaf and mute
- Ellouise Thompson has the chromosome condition ‘3p26.3-25.3 deletion’
- It affects one in 820,000,000 people and just three individuals in the UK
- The disorder has been linked to heart, kidney and bowel problems
- Ellouise is having tests and rehabilitation for her speech and cognitive functions
3
View
comments
A two-year-old girl is among just nine people in the world to suffer from a condition that is so rare it does not even have a name.
Ellouise Thompson, from York, has a chromosome condition known only as ‘3p26.3-25.3 deletion’, which affects just one in 820,000,000 people.
The youngster, who is unable to speak or hear, faces an uncertain future due to the disorder being so rare. It has, however, been linked to heart, kidney and bowel problems.
Ellouise’s parents first became concerned when they noticed she never cried – even when hurt and did not make babbling sounds as a baby.
Her mother Emma Thompson, 40, said: ‘When we found out about the condition we were beyond heartbroken. We were just numb with fear.’
Ellouise, who is one of three cases in the UK, is undergoing a series of tests and rehabilitation for her speech and cognitive functions.
Ms Thompson is speaking out to raise money for the small charity Unique, which she said has helped to answer ‘our millions of questions’.
Two-year-old Ellouise Thompson is among just nine people in the world, and three in the UK, to suffer from a condition that is so rare it does not even have a name
Ellouise has a chromosome condition known only as ‘3p26.3-25.3 deletion’
Her mother Emma Thompson (left) says Ellouise’s (right) diagnosis was ‘beyond heartbreaking’ (also pictured are her children Lillian, seven, and James, three, and husband Jon Thompson). She says her daughter’s diagnosis left her ‘beyond heartbroken’ and ‘numb with fear’
-
How your daily prescription pills could be draining your… 
The 39-year-old mother with a HEART-SHAPED WOMB: Russian… 
Higher levels of oestrogen and other sex hormones are to… 
Model, 57, who spent years feeling like she was ‘constantly…
Share this article
WHAT IS 3P26.3-25.3 DELETION?
3p26.3-25.3 deletion, or chromosome 3p-syndrome, occurs when there is a missing copy of genetic material on chromosome 3.
The condition’s severity depends on the size and location of the missing genetic material, as well as which genes are involved.
It affects just one in 820,000,000 people.
Common symptoms include:
- Poor growth
- Developmental delay
- Intellectual disability
- Feeding problems
- Distinctive facial features
- Autism
- An unusually small head
- Poor muscle tone
In severe cases, patients may have a cleft palate, extra fingers or toes, seizures, deafness, gastrointestinal problems, kidney issues or heart defects.
Most cases are not inherited and occur due to random genetic mutations.
There is no cure. Treatment focuses on helping children reach their major milestones.
Medication can be given for seizures, as well as surgery for cleft palates and tubes to help with gastro problems.
Source: Genetic and Rare Diseases Information Center
‘We were beyond heartbroken’
Sure something was wrong, Ellouise’s parents took her to see a paediatrician several times.
Ms Thompson, who is also mother to Lillian, seven, and James, three, said: ‘We realised something was wrong, but it was beyond the scope of your standard children’s paediatrician.’
After a series of tests, the youngster was diagnosed with the disorder two months ago.
Ms Thompson said: ‘In a way it is good because Ellouise can get help.
‘In other cases we have researched the child has not been recognised with symptoms until they have reached school age.
‘At the moment we do not know what the future holds for Ellouise but our family and friends have been amazing support.’
Condition affects just one in 820,000,000 people and has left Ellouise unable to speak or hear
Her future is uncertain but the disorder has been linked to heart, kidney and bowel problems
Her parents became concerned when she never cried or made babbling sounds as a baby. Ellouise was taken to see specialists several times due to her condition being ‘beyond the scope of your standard children’s paediatrician’, according to her mother
‘We do not know what the future holds for Ellouise’
Ms Thompson claims her family’s only source of information on the disorder has come from Unique.
She adds being able to reach out to other families in the same situation has helped them answer ‘our millions of questions’.
Ms Thompson said: ‘We do not know what the future holds for Ellouise but with Unique’s help we know we will fight for the support needed to enable her to thrive in her own unique way.’
Ellouise’s father Jon Thompson added the charity had been ‘absolutely amazing’ in helping them and without it ‘they would be left in a black hole of worry and ignorance’.
He said: ‘The insights and experience of the other families Unique have connected us to has defined and driven our dealings with medical professionals, our understanding of what can be possible and the support available to allow us to best help Ellouise become all she can be and more.’
Ms Thompson will take part in a 100-mile bike ride next month, called Velo South, to raise money for Unique. Donatehere.
Ellouise is undergoing tests and rehabilitation for her speech and cognitive functions
Her parents are pleased she has been diagnosed young enough to get help for her symptoms. They have been in contact with the small charity Unique, which they claim has been ‘amazing’ and answered ‘millions of questions’ by putting them in touch with other cases
Ms Thompson claims the support of her family has been amazing (her children are pictured). She will take part in a 100-mile bike ride next month to raise money for Unique
Source: Read Full Article