Dronfield Eye Issue 166 August 2019

dronfield EYE
Thomas
Gascoyne:
Could have a
rare variant
of Batten
Disease,
which itself is
extremely
unusual
Appeal to help boy
with rare illness
A local couple are aiming to raise awareness of
the rare disorder of the nervous system affecting
their 11-year-old son. Deborah Wain reports
T
HOMAS Gascoyne was a typical toddler but began to
significantly regress as he got older. He is now unable to
talk or sit unaided and suffers seizures and a movement
disorder.
Despite many tests, there has been no concrete diagnosis of
Thomas’ illness but parents Claire and Mark have been told by his
consultant that it is almost certainly a rare variant of Batten Disease,
which itself is extremely unusual.
They are currently awaiting the results of further genetic tests to
see if they confirm this. This could take many months.
The couple, who also have an eight-year-old son, Alexander, are
currently adapting their Coal Aston home so Thomas can be better
included in family life.
Claire said Thomas has a normal infancy but struggled with his
speech and language, displaying a few autistic traits.
However, at nursery he loved counting and space and, aged four, he
could count to 30, knew all the planets and could recognise musical
instruments by sight and sound.
When Thomas was six, an occupational therapist noticed something
was amiss with his core strength and spatial awareness.
Claire said: “From then he slowly started to regress. His walking
got slower, he couldn’t manage stairs or steps, he felt unsteady so
started to crawl and eventually stopped walking then stopped
crawling.”
Thomas suffered his first seizure in 2015 and has gone on to
develop several different kinds of seizures, including myoclonic
seizures, triggered by movement.
Claire said: “Thomas’ seizures are now under control which is a
huge improvement from last year when he could have up to 60
seizures a day. At the moment
he is struggling with a
movement disorder which
affects most of his body with
involuntary movements while
awake. The worst areas
affected are his head and arms
that are moving constantly
while he is awake and this is not
under control at the moment.”
Thomas is a patient at both
Sheffield Children’s Hospital and
Chesterfield Royal Hospital.
Tests had earlier ruled out a
Thomas when he was
a lively toddler
number of conditions, including Batten Disease, which has 13
identified types. Sadly, Batten Disease is progressive and life-limiting
and Thomas’s condition has deteriorated over the last year.
The family would like to make more people aware of the disease.
They are in the middle of adapting their home with the aid of a
disabled facilities grant to allow Thomas access to the ground floor
and garden and hope to raise the shortfall of £20,000 or find people
willing to donate materials or labour.
Claire said: “We are adding a ground floor bedroom and disabled
wet room through the grant from the council but it doesn’t cover
all the ground floor adaptions to include Thomas in everyday
family life.”
Meanwhile, the Gascoynes are supported by a team of professionals
to help them manage Thomas’ care, including physio and
occupational therapists, and community nurses.
They also benefit from Chesterfield charity Fairplay and have family
respite breaks provided by Bluebell Wood Children’s Hospice.
Claire added: “We are putting together a care package which will
provide extra daytime support for Thomas.”
To help, visit www.justgiving.com/crowdfunding/thomaslg
Meanwhile, Northfield Junior School, where Alexander is a pupil, is
raising funds for the appeal.
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