Kiera was born eight weeks premature last October. She was in Colchester
Special Care Unit for four weeks, without any major problems, and seemed
to be progressing well. After her first DTP vaccination at eight weeks
old she became very upset and was not well all over Christmas.
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Kiera at Age 2
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She then
began to have feeding problems, coughing a lot, choking on the bottle
and screaming after just 1floz of milk. In mid January she choked twice
and needed resuscitation (by Mum and then by Dad!!). Kiera was also
still very floppy, but we were reassured that this was because she had
been premature and that she would take longer to ‘catch up’. But her
weight gain remained slow and when she did not even begin to get head
control, we became even more concerned.
Kiera had regular check-ups at the Special Care Unit and during the
March appointment it was suggested that she had a milk intolerance. So
we gave Soya milk a try and were told to go back the following week.
Kiera was then admitted to hospital for observation and finally it was
admitted that something could be wrong and we were not just being
paranoid! By this time our confidence as parents began to falter but at
long last someone had recognised that there was a problem. We were told
that Kiera had Cerebral Palsy. We were completely devastated.
Kiera was sent home after a week on Diazepam (valium). At first she
seemed more relaxed and much happier. Then we began to notice that when
we fed or changed her she went a dusky colour and looked vacant. It
became obvious that she was having small fits. So back to the hospital.
Kiera was then put on a Nasal-gastric tube due to her poor feeding and
slow weight gain, it was also to help administer her drugs. Her fits
became worse and we were transferred to Addenbrokes Hospital in
Cambridge, to their Paediatric Intensive Care Unit. By this time Kiera
was having ten major fits with apnoea attacks and up to forty Myoclonic
jerks a day. She was on Phenobarbitone, Carbamazepine and Diazepam,
although they were not really working. Each time she had a major fit she
would have Paraldehyde rectally and this would knock her out.
We were in Cambridge for three weeks and Kiera was put through blood
tests, lumber puncture, scans and EEG. Poor little thing! The scans
showed up nothing unusual, routine blood tests came back clear, her EEG
was abnormal, they did find her liver function was abnormal but felt it
was unconnected to the brain problems. So no conclusions yet! Next the
doctors looked into genetic problems, but we were told that the results
would take time and not to expect Kiera to survive that long! We were
even asked permission to have a post-mortem in the event of her death!!
What can you say?
We were then transferred back to Colchester as Cambridge could do no
further tests and little else for Kiera. Kiera then had two severe fits
and was not expected to survive the weekend. By now it was April. Kiera
was then put on Vigabatrin and battled on. A few days later we had a
meeting with our doctor who told us that she had CDGS - "What?" We
thought. It was not such a shock as the first diagnosis but we were
obviously upset and surprised.
This was the next stage of Kiera’s life, she was weaned off the
Carbamazepine but left on Phenobarbitone, Vigabatrin and Datrolene, for
muscle spasms, vitamins, iron, folic acid and Diazepam when needed.
Kiera was also given Duocal (a calorie boosting ingredient) but this
just made her sick. Even though her fits were under some control they
still caused her many problems. Kiera, however, did slowly stabilise on
this cocktail of drugs. Her Myoclonic jerks were reduced to about three
episodes a day, lasting about two minutes, occurring most frequently on
waking.
Kiera was the first case of CDGS in Colchester so very little was known
about the condition, we were then referred to Dr. Peter Clayton at Great
Ormond Street Hospital, London.
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Kiera pictured with Mom, Age 3
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We finally had someone knowledgeable to
talk to!! More blood tests were taken from all three of us and Kiera
also had a skin biopsy and general clinical examination. The findings
were that she had inverted nipples, roving eye movements, was unable to
see, had no upper thigh fat, had no dysmorphic features, no converging
squint, was very hypertonic in her legs, had no body control and severe
head lag. Kiera was thought to be very effected and typical of previous
cases seen in the UK. The survival rate in the UK is only 10% until the
age of 18 months, so Kiera’s chances were very slim. We were also
informed that there was an Antenatal test for CDGS, providing Kiera was
PMM deficient, which was 99% probable.
Kiera was, by this time, more stable except for beginning to retain
fluid. She remained in hospital but as our confidence in coping with the
feeding and handling her drugs grew, we began to have her home for
weekends. This was wonderful as we began to feel like a family again.
At the follow up appointment with Dr. Clayton, he was pleased with
Kiera’s progress and weight gain as she was now 13lb 3oz. Clinically
there were no improvements or change although we knew that she was much
happier. Then came the bit we were dreading, Kiera was not PMM deficient
which meant no Antenatal test for us! She was now not just the only case
in the area that we live, or just one of seventeen reported cases in the
UK, but a completely different case altogether! Our little girl is not
only special and rare but unique as well! This also meant we did not
know whether we can have any future unaffected children, which in itself
was a huge blow!
Kiera has been at home, full time, since mid August. She is doing well
although she still has fits and we continue to feed her Soya milk. Her
current drug cocktail is: Datrolene (muscle relaxant); Spironolatone and
Frusemide (Diuretics); Phenobarbitone and Vigabatrin (anti-convulsants);
Sytron (iron); Abidec (vitamins), and folic acid. She can also have
Diazepam and Paracetamol when needed. We are learning to cope with her
and our confidence is growing. Her fluid levels are stable, but she
still has trouble swallowing her own saliva and tends to cough a lot.
She does not yet smile and still has no head control, but we believe
that she loves music and the feel of the warm sunshine on her face when
she is outside.
Eff: 1997