Supporting children born without eyes or with underdeveloped eyes

George's story

Our journey started at our 20 week scan when the sonographer picked up that there was a problem with George’s heart. While obviously upset, we were advised that his condition could be repaired and there was no reason why our child would not lead a normal life. However, when George was born our world changed dramatically. As soon as he was born, he was whisked away to be assessed by a paediatrician. Both my husband and I knew there was something wrong with his eyes from the moment we saw him. The midwife reassured us that not all babies open their eyes as soon as they are born. But then we received the bombshell. George didn’t have any eyes. Nobody can explain that feeling of being elated one minute and then being absolutely devastated the next. We were plunged into a world we had not prepared for. I’d never heard of anybody being born without eyes and had no exposure to the visually impaired world.

The 1st year of George’s life was constant appointments, either locally or in London. We were referred to Moorfields and George started wearing expanders when he was 5 weeks old. He now wears prosthetic eyes, although his eyes still do not open. He has also had surgery on one side to reconstruct the eye socket as he was unable to keep a prosthetic eye in. We are waiting to see if this has been a success as his eyelids are still stitched together.

George had open heart surgery when he was 4.5 months to fix his heart conditions and, once this hurdle was over, we could focus on his visual impairment and getting involved with MACS. It was invaluable to meet other families who understood exactly what our concerns were and could offer advice and provide emotional support. This support will also be invaluable to George as he gets older and can talk to other children his own age who understand his situation.

We dreaded attending our first MACS regional event as we were unsure whether we were emotionally ready for it. However, we were overcome by how welcome we were made to feel. Attending our first Family Weekend was also a pivotal point as the older children/young adults we met gave us an insight into what the future could be like for George. Totally different from the bleak future we envisaged initially.

George is now 4 and attends a mainstream nursery. He has a close friend the same age who is also blind but all of his school friends are sighted. They do take George under their wing (especially the girls) but they also treat him like any other 4 year old. If you saw them playing together you would not know that George is blind.

We do still get the looks of pity, people staring at George and comments about him being asleep but this is just part of life for anyone that is different from the norm. George’s condition is genetic, caused by a mutation in the STRA 6 gene. It is an inherited condition from both my husband and I, although we are just carriers of a bad copy of the gene and not affected in any way. The gene does affect all organs in your body but only George’s eyes, heart and kidneys were impacted. He will probably need a kidney transplant when he is older so our medical journey is still ongoing.​

Ollie's story

I’m Coral and I have a little boy called Ollie who is 8 and has Microphthalmia, Coloboma and Nystagmus. I want to tell you our story to emphasise how important early diagnosis of MACS conditions is and how the charity MACS has been absolutely amazing for us. Our journey began on 2nd December 2005 when Ollie was born, although we had no idea what we were about to go through. Ollie had a bit of a tough birth so the fact he hadn’t opened his eyes wasn’t surprising. Now when I look at photos of him on those first days I can see something is wrong, but at the time we didn’t. We spent Ollie’s first night in hospital and were ready to go home the next day. Ollie still hadn’t opened his eyes so when the paediatrician came to see us I was relieved and specifically asked him to check Ollie’s eyes. He did, marked him off as all ok and sent us home. John and I were so happy and so were Ollie’s brother, Tom and sister, Rebecca. We had a lovely weekend together and introduced Ollie to our family and friends. His eyes were still sticky and closed all weekend. On the Monday morning John was back at work and it was just me and Ollie at home. I laid him on his changing mat and for the first time he opened his eyes and looked at me. I couldn’t quite believe what I was seeing, but the blue iris of his right eye appeared to be smaller than his left. I didn’t even comprehend at that time that his whole eye was small or that there were any problems with his left.

I rang John’s mum, who rang the midwife.  When she got there she didn’t know what to say and suggested we take him straight to A&E which we did.  I was totally bewildered, we arrived at the hospital and I didn’t even have a changing bag with me.  I wasn’t even used to having my new born yet and couldn’t believe this was happening.  They couldn’t tell us anything at A&E and advised that we needed to see an eye specialist.  I couldn’t really understand how we’d been sent home from hospital like this even after seeing the paediatrician when he’d said everything was ok.  I now know that the paediatrician only checks that an eye is in the socket, and that is it.  There is no sight check, no check for eye problems, nothing.  So babies can be sent home with their parents completely unaware of any problems. 

We received a letter from the hospital with an appointment to see an eye specialist in February, three months later.  Months to spend waiting, worrying and not knowing.  When we saw the specialist he explained the situation to us.  Ollie had Microphthalmia, small right eye and Coloboma, key hole pupil in his left eye, and Nstagmus, wobble of his eye.  He couldn’t confirm what vision Ollie would have but put us under Great Ormond Street Children’s Hospital for the brain tests to see what connections Ollie had between his eyes and brain. 

This was so traumatic, our tiny baby was hooked up to wires all over his head and we just didn’t know what to expect.  When the results came back we were told Ollie had no sight in his right eye and some moderate vision in his left.  This was upsetting, but a relief too that he did have some sight.  We were then transferred to Moorfields Eye Hospital under Mr Abou-Rayyah.  When the talk came about prosthetics I was so upset.  I didn’t want my child to go through this.  Why did this happen to Ollie?

We got on with life, but it was hard.  We put on a brave face and enjoyed our new baby.  I bought loads of black and white toys for visual stimulation and spent my time watching to see if Ollie responded. 

On one of our hospital trips to Moorfields a lovely lady asked us about Ollie’s condition, saying her little girl had a similar condition.  That lady was Lynda, the MACS secretary and her gorgeous little daughter was Angharad.  She told us about MACS and so much changed!  We realised Ollie wasn’t the only one. 

We went to our first family weekend and it was absolutely amazing.  We were made to feel so welcome and were completely inspired by all the children and parents involved.  Yes these children did have eye conditions, and some with far more serious disabilities than Ollie, but everyone was so happy, supportive, positive and having fun! 

We really enjoyed ourselves and could talk to other parents with children with the same condition as Ollie, share experiences and we were reassured to see how well the older children were doing. It gave us the realisation that having a MACS condition isn’t the end of the world, that blind and visually impaired children were achieving so much and leading fantastic fulfilled lives.  I learnt all about the prosthetic eyes from other MACS parents and children, so I knew what to expect when Ollie had to have his which made a huge difference.  The whole weekend oozed positivity, we didn’t want to go home! 

Being involved with MACS changed our world.  We really needed the support back then and now as Ollie is getting older MACS gives him the opportunity to meet other children with a similar condition to him.  Now he knows he’s not the only one and as he gets older and faces new challenges and different problems, the support from MACS will be invaluable.

Ollie amazes us every day, as do all our MACS children.  Being part of MACS has given him so much confidence and made having a special eye not so unusual. He copes so well that people don’t realise how little he can see, so some of his friends at school didn’t know he had a prosthetic eye. Ollie is so relaxed about it now that when his prosthetic fell out at school in assembly, he didn’t panic, the teachers did, but Ollie just showed it to the other interested children and took it in his stride. 

MACS has changed our lives. 

N.B.: Wording from speech given by Coral Murphy at MACS 20th Anniversary reception at Westminster, 9 June 2014.

 

Dylan's story

Our darling Dylan was born on November 6th last year and he has not stopped smiling ever since . Despite spending two months in neo natal care battling bravely through multiple procedures to help his breathing, kidneys and eyes, Dylan has proven time again that he is the happiest and bravest little Superhero! I read about MACS when Dylan was only a few weeks old and still in hospital. He was born with beautiful yet underdeveloped eyes that are microphthalmic in size with colobomas (clefts) and nystagmus causing severe visual impairment. MACS is a wonderful charity that reaches out to families with children born with this rare condition of the eyes. It is wonderful knowing that MACS support is only at furthest a phone call away and that there are other children out there like Dylan that we are very much looking forward to meeting soon. We are blessed with the most wonderful family and friends that all adore Dylan and are flying/ferrying it over from Ireland with their bikes especially to ride in the Prudential Cycle in August 2014 to help raise awareness and money to support this wonderful charity in honour of our little Superhero. We are a largely Irish army of 20 people ready to take on the Prudential Ride London 100 mile cycle and we are all very much looking forward to this great Event!! Bring it on!

 

 

Darren's story

My name is Darren and I have a Microphthalmic right eye. From birth I have been blind in that eye but now I have a prosthetic shell. This affected me quite badly at school and I suffered a lot of teasing, but I'm at college now and life is really great. MACS helped me to understand that thousands of children, teenagers and adults also have sight disabilities of some kind. Thanks to MACS, I have gathered some really great, lifelong friends. Adam, Jess and George have all become close friends that I have met through MACS and they all have a similar eye condition. My parents have also benefited by meeting really great people too.

During August 2012 I went on a week-long sailing voyage from Scotland sponsored by MACS which taught me a tremendous lot about life and people skills. It was a really amazing experience and demonstrates the great work MACS does! Thank you to all at MACS.

Maddie's Story

Maddie was born in 2001 with Microphthalmia, Coloboma and a cleft palate. At school she loves drama, music, creative writing, PE and she attends the cross country running club. While being visually impaired poses difficulties, such as ball games in PE, she is a lively, healthy girl. A special camera makes her school resources accessible, although it annoys her when it decides it needs a rest! Maddie enjoys being in a small group of friends, although locating them at playtime can be challenging for her! Occasionally, Maddie gets discouraged but she generally accepts her condition and makes the best of life.

She is a happy girl who embraces new challenges and sings in a local choir outside school.

As well as reassuring Maddie that she is not alone, MACS has given her, and the whole family, opportunities and support that is perfectly tailored to life with a MACS condition.