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CHARITY : ELLISSA’S STORY
We were so happy to have a sister for our 3 year old
Sophia. Life was perfect. Due to a quick delivery,
Ellissa’s face was very compressed at birth which lead
for the doctors to do a blood test. As the day went on
her beautiful features appeared and the compression
disappeared. We were sent home and told not to
worry, only if something shows up were people
contacted following these blood tests.
Two weeks later we received a phone call. A life
changing phone call which I will remember forever.
We were told our daughter’s blood tests had returned
and they had some devastating news. Our daughter
had something called FOXG1 syndrome. They
went on to explain that it was a severe neurological
disorder meaning our daughter would never walk
or talk, would be severely autistic, have Epilepsy
along with breathing problems, poor sight, hearing
problems and need high levels of care for the rest of
her life.
I could not believe what I was hearing.
This didn’t make sense as our gorgeous
daughter looked so healthy. Elissa’s
FOXG1 gene was deleted, this means
that what had happened was a complete
fluke, and we were not carriers. It could
happen to anyone and unfortunately
it had happened to our daughter. We
made contact with other families whose
children had the same condition and
found out more information.
FOXG1 is a neurological syndrome present from birth
caused by changes involving the FOXG1 gene. This
gene provides instructions for making a protein called
forkhead box G1. This protein plays an important
role in brain development before birth. FOXG1 has
similar symptoms to Rett Syndrome but unlike Rett
Syndrome it is present in both boys and girls and
there is not a period of regression.
Children and young people exhibit a broad spectrum
of abilities depending on the exact genetic mutation.
The early years are particularly difficult for families
as there are periods of inconsolable crying, multiple
seizures, frequent infections and sleep difficulties.
Many sufferers cannot walk or talk, they struggle to
communicate their most basic daily needs, they have
significant learning and communication difficulties,
some are even tube fed or need breathing support.
Other symptoms include teeth grinding, involuntary
muscle movement, constipation, swallowing issues,
reflux, low tolerance to heat, temperature regulation
issues, small hands and feet, high/low muscle tone to
name a few.
So at 11 months old all our fears came true. Ellissa is
now fed through a NG tube and waiting for her peg
feeding tube to be fitted. Her physical development
is the same as that of a 2 month old baby and the
dreaded fear of seizures started a few weeks ago. I
cannot explain the pain we go through watching our
child in pain, we wish we could take it away. She
is our world, our fighter, and we stay
positive and will never give up hope or
stop trying to find ways we can help our
daughter.
All of the children and young people
will continue to have high levels of care
needs throughout their lives. As parents,
we have become carers.
There are 25 children with
FOXG1 in the UK.
Our families and friends have all worked hard to raise
money for us to be able to be registered as a charity.
All money raised goes towards research into finding a
cure and ways to help our children.
We have to raise £5000 a year to keep the charity
up and running which is crucial for us to be able to
help our children. If anyone would like to help raise
money for FoxG1.uk please visit our website set up
by the parents of children with this syndrome. We
appreciate all help given.
It could happen
to anyone and
unfortunately it
had happened
to our daughter.
Living with FoxG1
On the 16th August 2015 I gave birth to our beautiful daughter Ellissa.
If your require any further information please take a look at the website
Charity number 1167988.
Elilissa’s father,
Jack Dodd (centre)
