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.

Personal stories have not been checked for medical content and are not a source of medical information.  Names have been changed to protect our children's privacy.

Last updated: 19/06/08