Katie’s Story

(child, bilateral cataracts and Down’s syndrome)

I was 34 years old when I became pregnant for the first time. It was a planned pregnancy and my husband and I were delighted. I did not take any tests for Down’s Syndrome as I would not wish to terminate the pregnancy if I was aware of it. However, at 14 weeks, I had an emergency scan after a threatened miscarriage that showed that my baby had a cystic hygroma which meant that it had a 50:50 chance of having a chromosomal defect. Unable to spend the rest of my pregnancy in suspense, I had an amniocentesis and I was told that I was having a little girl with Down’s Syndrome. I was upset as I worried about the future of my little girl but we had time to come to terms with the diagnosis before the birth and our gorgeous little daughter, Katie was born.

Within hours of being born, she was diagnosed with a hole in the heart This wasn’t unexpected since such a large proportion of children with DS have the condition. I was told she needed open heart surgery which was worrying but I reasoned I would deal with it later. However, by far the biggest shock for me was when she was diagnosed with Bi-lateral congenital cataracts. Although I knew that the paediatricians told me that they were having difficulty finding her ‘red reflexes’ I thought it was just a case that Katie was sleepy and they hadn’t been able to view her eyes properly. I was asked to return to the hospital for her to see the Consultant Ophthalmologist which I did without thinking too much about it. I probably thought that my daughter had ‘enough’ wrong with her and we wouldn’t have to think about anything else. I was therefore shocked and stunned to be told that she had the condition, that she would probably need surgery before she was 12 weeks old and that she would need contact lenses in her eyes. I was really upset that my beautiful little daughter, who had so much to contend with already, had this additional problem and I found it hard to take the information in. I had always had a ‘thing’ about eyes and found it difficult to use contact lenses on myself. I was appalled that my daughter would need them and I would be expected to put them in and take them out.

Katie’s heart problem turned out to be more serious than first thought and she had difficulty feeding. We were told that due to huge hole in her heart, blood was being sent around her body unoxygenated and into her lungs at too high a pressure. She needed surgery for that problem before she was 4 months old or she would suffer permanent damage to her lungs. This complicated her eye surgery and Katie needed 2 Consultant Anaesthetists for both eye operations to remove her lenses to ensure that she survived the anaesthetic. I now look back at that time and wonder how I coped with the pressure. I think I survived in a state of denial, relying on blind faith that she would be fine.

Fortunately, our wonderful little daughter pulled through both operations without any problems. Our only concern after the second one was that once at home that evening, I bathed her operated eye (very gently) with cooled boiled water on a cotton wool ball and she started screaming. She is not a baby who cried very much and I was convinced that I had pressed too hard and popped out some of her stitches. We took her back to the hospital at which point she stopped screaming and smiled and cooed at the doctor, making us seem like completely neurotic parents! We stayed in overnight with her without any further problems and left early the next day.

Her eyes seemed remarkably good after both operations and all there was to see was some blood clot on the white of her eye which went within days.

A week after the second operation, I took Katie into hospital to have her contact lenses fitted. I resolved very early on that I was going to conquer my fear and take control of her lenses from day one. I was told that she could keep her lenses in for weeks at a time and return to hospital to have them removed and cleaned, but I did not want her to be at greater risk of infection just because I was squeamish. I therefore had a go at fitting and removing them. With the type of lens that Katie had, it was easier to fit them than to remove them. I attended hospital with her on the Wednesday, Thursday and Friday and on Friday morning, I finally managed to remove one. By the afternoon, Katie had gone into heart failure and was transferred to a hospital 35 miles away from home and from the hospital where she had been receiving her eye treatment.

The stress of seeing your child on oxygen and with an NG tube, facing imminent open heart surgery was hard enough, but added to that was the stress that, as far as I knew, I was the only one who had any idea how to fit and remove the lenses. The Children’s Heart Ward had no one who could assist with such matters but fortunately, another hospital within their Trust had a Paediatric Ophthalmology service and one of their Optometrists would visit us on his way home from work. I am so grateful to that man! He restored my sanity and provided us with vital support at a crucial time in all of our lives. He didn’t use the same type of lenses as those provided by our local hospital and struggled to get used to them himself. He ended up supplying us with some of their lenses, which were much easier to get out – but terrible to get in – so my problems shifted from the evenings to the mornings!

We had to wait 3 weeks for the heart surgery due to the lack of intensive care beds but ever since that surgery, Katie has been wonderful and was out of hospital in little over a week! Since then, she has been very co-operative about having her lenses fitted and removed. I suppose she is used to it, having had them since she was two months old. We have the odd day when she is a bit grumpy and doesn’t want me messing with her eyes but most of the time she is great. My husband also learned how to fit and remove them at an early stage, which was a great relief to me as the burden wasn’t all on my shoulders.

Katie is now two and a half. She still has a slight side to side movement in her eyes and has a squint in her right eye. We started leaving out the left lens to try and make her use the right one more but this hasn’t been successful, so we are now patching for a few hours every day, whilst leaving out a lens every other day.

I’m not sure how the experts would describe her vision, but I am amazed at how well she copes. Despite the fact that she has a fixed focal length just in front of her face, there is very little evidence of a visual impairment. She is socially very advanced and responds well to eye contact and facial expressions without moving closer to us. She has also been known to recognise someone accross the room and wave to them, whilst shouting ‘Hiya!’. She copes really well at her mainstream nursery and we are looking to place her at mainstream school. In recent months, she has been diagnosed as having a mild/moderate hearing loss, requiring a hearing aid, but despite this enjoys life to the full and although her speech and language is delayed compared to most other children with DS, she uses signs and is now starting to use words to communicate.

She has not had any involvement with a Teacher for the Visually Impaired although since seeing this website, I have asked for her to be referred. I wish it was around when Katie was first diagnosed!

My advice for anyone with a child with cataracts is not to worry to much about the ‘What if’s?’ – there is time enough to deal with them and research them if and when they happen. Enjoy your child. I hate to think back to the despair I felt when Katie was admitted to the heart unit, so shortly after her eye surgery. We were so worried about her future at that point. I look at my wonderful daughter, who makes friends where ever she goes (she literally has a fan club at nursery and our local church) and am glad that our worst fears of our daughter being virtually blind and without any quality of life have proved groundless. She is a walking, talking, laughing bundle of fun and the love of our lives.