As part of Rare Disease Day, which is marked on Monday 28th February, stories of those living with rare diseases are being shared.Advertisement
Two-year-old Anna from Preston lives with Oculofaciocardiodental (OFCD) syndrome, a disease that only 20 people in the world live with. It brings visual impairment and lots of medical complications.
Anna’s mum Magda has shared her story.
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Anna was born at 36 weeks and immediately had a chest infection which required urgent admission to the neonatal team to be cared for in an incubator.
At nine weeks, Magda noticed something was wrong with Anna’s eyes while she checked her over.
At four months old, the family attended an appointment in Manchester for genetic testing, where they found Anna had bilateral congenital cataracts.
She was diagnosed with OFCD syndrome, which involves 16 different conditions including premature cataracts and glaucoma.
Magda, who is a nurse in an Intensive Care Unit, says that Anna’s quality of life and medical care improved because of her own medical knowledge, the fact that she doesn’t take no for an answer; and through the help of the Royal Society for Blind Children (RSBC) – the leading UK charity working with blind and partially sighted children and young people.
She said: “I thought this cannot be the end of the line for an infant. There are loads of vision impaired people, how can we make her life better? And that’s why we got in contact with RSBC.
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“It’s quite difficult to know how much she sees. They think she will see up to six feet, but with everything foggy, and only clear at only 10 centimetres. That’s it.
“This is not something that will get better, this is not something that will resolve, this is what Anna is going to have to live with. She’s not entitled to intraocular lenses.
“She has a very rare genetic syndrome (OCFD) and there are only about 20 people in the world with it. Anna also has a very rare eye presentation that is not common with her syndrome – where a pupil is not centred in her eye”.
“But to Anna’s credit she has a beautifully strong personality which makes her unique and she’s also feisty – so as a pair we do not take no for an answer.”
Magda says that she and Anna’s father had to face up to the reality of the situation and make the best of it after grieving for the perfect child they had the idea of, although they believe Anna is perfect in her own way.
One of the eye specialists the family dealt with mentioned RSBC, and Magda took the initiative and emailed.
The support workers from RSBC immediately began offering all sorts of help and practical knowledge, including how to set up the house, ensuring the lighting wasn’t too bright in rooms such as the bathroom and not moving furniture as the child learns routes and how to move around the house.
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Anna is guided by sound and therefore thinking about how she moves and reacts if different.
Magda said: “It’s a lifelong process and it’s going to be a learning process for everyone. RSBC also helped us to deal with our initial grief, with the support and contact of family therapy – even in the middle of the COVID pandemic we have received frequent calls to check on our wellbeing.”
Anna is now very confident at moving around in the known environment of her own home, but she needs help in dealing with any new places.
Magda said: “If we take Anna to someplace that is not a place that she knows, she will spend five minutes with me walking around while I describe what we are seeing. This is a chair, this is the floor and she will remember portions of the environment.
“Once she has become comfortable with a room and has an initial memory of it, she becomes more independent and will explore it more at her own pace.
“If she’s in a new place you have to point out any height changes, say step low, step high, step going down, step going up where necessary.”
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Magda says that she has gained so much to improve Anna’s life, not only from RSBC’s specialists but from the other parents who the charity put her in touch with through their families group, whose support she says is vital.
Anna is followed by 22 different medical teams, several different cardiologists. The family are speaking about four different hospitals and about numerous different specialists that are key in their own areas and need to see Anna when necessary.
“When we knew what we were dealing with, they helped us with finding things to teach Anna, things to rehabilitate. That is where RSBC contributed massively with Anna’s progress.”
To find out more about RSBC’s life-changing work please visit their website at www.rsbc.org.uk
And donations can be made to support Anna and her family via their GoFundMe page.
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