A man with a devastating life-limiting illness was left undiagnosed for years with doctors mistaking it for paranoid schizophrenia.
Robert Turner, from Bury, Greater Manchester, was born with the extremely rare Juvenile Batten Disease but it took until he was 24 for it to be recognised.
The neurodegenerative disorder causes mental impairment, worsening seizures and progressive loss of sight and motor skills.
It is fatal and progressively worsens, reports the Manchester Evening News.
Parents Pam and Gary said Robert didn't show any symptoms of the condition until he was seven.
He first lost his sight and then suffered seizures as a teenager.
At 18 he was registered blind and soon after walking became difficult and no amount of physiotherapy could help him stand upright.
Years later Robert was staying at a mental health facility with suspected paranoid schizophrenia when he was finally correctly diagnosed.
Pam said: "He shouldn’t have been in a mental health facility. In our guts, we knew it wasn’t right but we’re not trained.
"They wanted to diagnose paranoid schizophrenia but we knew that wasn’t it. We said the consultants were wrong.
“He had two tests; it was going to be between two diagnoses.
"Both of them weren’t brilliant but the Batten’s one was the worst. To be fair, we knew in our hearts by then what was going to come.
“We got him out of the mental health facility and onto a medical ward with carers."
Juvenile Batten Disease begins between the ages of five and eight.
The typical early signs are progressive vision loss, seizures, ataxia or clumsiness.
This form progresses less rapidly and ends in death in the late teens or early 20s, although some may live into their 30s.
Eventually, usually during the late teens or 20s, additional abnormalities develop including sudden involuntary muscle contractions, muscle spasms that result in slow, stiff movements of the legs, weakness or paralysis of all four limbs and sleep disturbances.
In most cases, progressive neurological and mental degeneration leaves affected individuals bedridden and unable to communicate easily and eventually results in life-threatening complications by the twenties or thirties.
Robert lived at a specialist home Heather House, run by charity SeeAbility, in Hampshire until his death in 2019 aged 33.
Doctors told his family it would be a miracle if he lived past 30.
The family believes it was through HeatherHouse’s specialist care that Robert was able to live for far longer than expected.
They said: “In September 2019 we had 10 glorious days of sun with our boy at his SeeAbility home.
"We laughed, we loved and, finally at peace, we said goodbye to our lovely Robert. Because of SeeAbility, we were given more time with our son than we ever dreamt possible, and we can’t thank them enough.”
Heather House is the UK's only specialised residential nursing care home in the UK supporting young people with Juvenile Batten Disease.
To say thank you, the family are now raising funds for the charity, which supports people with learning disabilities, autism and rare diseases.
The Living Beyond Expectations appeal will run from June 24 until July 27.
You can donate at www.seeability.org/LBE-Appeal
