Our daughter, born October 2010
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RLSB Mother's Day photoshoot, March 2015 (c) Alex Brenner
Sylvia and Zoe
Zoe is severely sight-impaired and light-sensitive.
She has the following conditions:
Zoe prefers to look at things a few centimetres from her face and slightly to her left. Her useful vision drops off sharply after about a metre, although this may not be apparent to the casual observer. Concentrating visually for any significant length of time causes Zoe to become very tired.
She is more prone to accidents – typically walking or running into things and falling over. She can be reluctant to report or show an injury as she is embarrassed by the knowledge that her vision makes her clumsy. However, she refuses to let her eyesight stop her from running around and having fun like any other child.
We like to think that time heals all wounds but unfortunately, in Zoe’s case, her vision is expected to start to deteriorate by the end of her teenage years and probably sooner. She has her eye pressures checked every six months to look for any onset of glaucoma and eye infections need to be acted upon immediately to prevent permanent damage. There are wondrous medical breakthroughs happening all the time but no one is expecting to be able to rebuild a human eye anytime soon.
Zoe is not currently short or long sighted. Her glasses can help correct her astigmatism but not any of the other causes of her reduced vision.
We are hoping she will be admitted to a relatively local, mainstream school with an integrated, specialist Vision Impairment unit. She is not old enough to read but can recognise the letters of the alphabet and numbers. No decision about whether she will benefit from learning Braille has been made.
The smallest size of print she can read is estimated at about 48 points.
Written by Heather, February 2015, for rare disease day.
Being the parent of a child with a rare condition brings with it an additional layer of challenges and opportunities. Both my children were born with medical conditions but only one is rare.
Natasha was born with a cleft lip and palate and support was available from diagnosis, (in utero), from a professional team so our emotional adjustment began before she arrived. We felt well supported, walking a path many people had walked before. We trusted the team because they'd seen it all before and could reassure us and advise the best treatment. They could talk us through all the things to expect in terms of treatment as she gets older and she remains under the same team until she's 21. The professionals all know each other, communicate well and refer between each other as the need arises.
Zoe's aniridia was diagnosed at five weeks old after we'd raised concerns. We got an initial diagnosis relatively quickly but were referred on immediately as the local consultant had never seen it before. The journey we've walked with Zoe has been much more isolative. Zoe's care is not joined up. She regularly sees four different teams and they don't communicate. It has been a constant journey of discovery, mostly with me seeking answers from other people with the condition or individual professionals who have done a single piece of research. Several times we've highlighted problems and these have not been taken seriously as it did not fit into any neat box of the limited role of that professional. Professionals then tend not to refer on as they almost don't believe there is a problem and we feel as if they hope it will just go away. They don't have time to do extensive research into aniridia or appreciate that the problems go beyond her eyes.
This means we've had to fight for answers and the best care. Zoe's care is micro-managed with poor communication between the teams. Often we are left to educate the professionals. The hardest parts have been getting our sleep issues taken seriously and understanding the deteriorating nature of the condition. Having described the constant battle we've had, she has done extremely well. She is registered blind but people often say you'd never know. This is both a compliment and a hindrance. Overall, I am extremely proud of her and how far she's come. From a very unsettled baby who didn't smile or sleep to a confident, brave child who has a learned a large range of coping strategies that we are often unaware of.
Our journey isn't over yet. There are still areas we are working on; areas that we see as a difficulty but professionals don't. I think, in time, these will be recognised as part of this syndrome. Until then I continue to support both my girls to live a fun, normal, healthy, fulfilling life. They both have excellent role models, external to the family. On rare disease day please take a moment to understand the complexities of having a rare condition and send a little more understanding to those families who walk this complex, challenging yet rewarding path that they did not chose to be on.
RLSB Mums helping Mums article: Getting the confidence to seek support - Heather, on coping with Zoe’s sight loss.
For more information on aniridia, please see:
For more information on nystagmus, please see: