Reading family back genetics project over hope for little Lola

The parents of a seven-year-old girl diagnosed with learning disability have urged others to follow their example and take part in a pioneering NHS genetics project.

Jodie Eaton and Kenny Isitt from Reading spoke after they and their daughter Lola, seven, took part in the 100,000 Genomes Project, a national project funded by the Department of Health.

Eligible patients with certain rare diseases and cancers and their families are being invited to provide health data and blood and tissue samples for DNA analysis to support treatment and research, including trying to find the specific genetic changes that explain a person's medical conditions.

Jodie hopes that taking part will give the family more information about Lola's health to improve the support she is given and also to aid wider research into her conditions.

Lola has a variety of health conditions including microcephaly (where the head is smaller than normal) and learning difficulties. In addition, she has autism and attention deficit hyperactivity disorder (ADHD), which are not included in the 100,000 Genomes Project.   

Lola's brother Stanley Isitt, nine, also has higher functioning autism and ADHD and sister Connie-Mai Isitt, four, is to be assessed for autism spectrum disorder.

Lola's father has a rare neurological condition called X-linked adrenoleukodystrophy which causes stiffness in the legs and leads to walking problems.

Clinical Geneticists from Oxford University Hospitals NHS Foundation Trust have told the family that Lola's health problems may be partially related to her father's conditions but suspect that other genetic factors may explain her small head and learning difficulties. 

Patients participating in the 100,000 Genomes Project contribute DNA (genetic) samples for whole genome sequencing, where a complete set of a person's genes is decoded to look for genetic changes which might be causing their health problems. 

Lola's doctors hope that comparing her genes with those of her parents may provide clues to explain why she has more serious problems than her siblings.

Jodie, 31, said she hopes the project can help families like hers by using research to better understand the conditions. 

She said: "We just need a bigger picture of what we are looking at. We want to know more answers to be able to know how to help her and how her life can progress.

"I would like a miracle for her but that's not going to happen, maybe just one answer that explains it and tells us why it happened, maybe a bit of a picture of how we can better manage her.

"To be able to take part in this huge project and share our data for future research is brilliant. It is going to be life-changing for some people."

Kenny, 41, was diagnosed with X-linked adrenoleukodystrophy aged 38, and Stanley was diagnosed with autism and ADHD after Lola was born. 

She said: "As a family, our quality of life is quite poor. We don't go out much, Lola likes to be at home, she doesn't like changing routine, she likes her home comforts.

"She struggles with life, she struggles to get out of bed. Everything is a massive struggle for her, she completely shuts down at any demand."

Jodie also said the family want to know if their children will pass on their health problems if they have children of their own.

Jodie said: "It would be beneficial for Lola, at the moment it's hard to see her being independent in the future."

Kenny said: "I am really glad to be taking part in this research project especially as it could mean we have answers in the future and that other people may possibly benefit from diagnosis and treatment."

The Oxford NHS Genomic Medicine Centre was established in June 2015 by NHS England and is one of 13 NHS Genomic Medicine Centres delivering the project in England.

At the moment, the 100,000 Genomes Projects takes many months to report results back to patients and families, but this will speed up in the future.

Consultants are asking patients and their families if they wish to take part, and patients can also ask their Consultant or speak to their GP to find out if they are eligible.

All participants must give written consent to join the project.

For information email: oxford.gmc@nhs.net and for details of conditions included in the project visit www.genomicsengland.co.uk/taking-part/intro/

Picture: Jodie Eaton and Kenny Isitt from Reading, with children Stanley Isitt, nine, Connie-Mai Isitt, four, and Lola, seven.