Case History: Kyle Woodford
Kilkenny, Ireland
Our son, Kyle Woodford, was born on 6th November
2001, in Kilkenny, Ireland, weighing 6lb 9oz. Kyle appeared quite healthy
at birth, although he was placed in an incubator for a few days, as his sugar
levels had dropped. It was also quite difficult to get Kyle to feed. Over the
following few months, at home, Kyle was quite irritated and still difficult to
feed. We put it down to ‘colic’. At his 3 month check-up with the
hospital it was noted that Kyle had very little weight gain. His food was
changed to a high-energy formula, to increase his calorie intake. The loose
stools began. Kyle was admitted to St. Luke’s Hospital, Kilkenny, a nasal
tube was inserted and various tests began. As each test came back negative, we
breathed a sigh of relief each time. Surely it was something simple that could
be rectified…
After almost three weeks nobody was any clearer as to what the
problem was, although his liver test results showed a slight elevation.
Kyle was then transferred to ‘Our Lady’s hospital for sick
children’, in Dublin and referred to a liver specialist. When more liver tests
were completed it was noted they came back very highly elevated. He was given a
vitamin K injection to stabilize his liver. Over the next few weeks it was
explained to us that Kyle was suspected of having a peroxisomal disorder.
Of course we had no idea about the disorder, but as we gathered the very
limited information that was available we soon discovered the horrible, harsh
reality of the disorder. Kyle was not only ‘very ill’, he was dying……Every
parents worst nightmare was happening to us. We took Kyle home from
hospital, we were told he had months if not weeks to live. We fed him a
fat-free diet by nasal-tube. He was unable after a few weeks to tolerate feeds,
so he was fed continuously, by a pump. A few weeks later Kyle was put on
morphine which he got in regular doses throughout each day. Although we knew
Kyle was in pain it was very difficult to determine where the pain was coming
from. We knew his sight and hearing were quite badly affected and his muscle
tone was severely affected.
The next few months passed in a blur – Kyle remained quite
comfortable while on morphine, but regularly cried for hours non-stop and slept
for only two or three hours each night. Every week we visited our GP for
antibiotics for him as he was constantly getting chest infections. Our weekly
nightmare was to change his nasal tube. It caused him a lot of pain
and was heartbreaking for us to have to do it.
We were physically and emotionally drained during this time. Our
lives were a mess, we were living a nightmare.
In August 2002 we had our first visit with a Metabolic
consultant in Dublin. She explained that she thought Kyle could live to about
10 years. Our immediate thoughts were how Kyle could live like this for 10
years and how we could continue to watch him in this state for 10 years.
In September 2002 we contacted a national radio station here in
Ireland, to try to make contact with other parents in Ireland who may have a
child with a PBD. The result was that Majella and Robert Smyth (parents
of Corey ) contacted us. They explained that they had brought Corey to see Dra.
Martinez 9 years previous to start DHA therapy. We contacted Dra Martinez
and three weeks later, when Kyle was 11 months old we visited Dra Martinez. We
stayed in Barcelona for 7 weeks. During this time Dra Martinez started Kyle on
DHA and put Kyle on a full-fat diet. She also organised for a g-tube to be
inserted (no more weekly nightmares inserting his nasal tube!) and Kyle was
also weaned off morphine.
Within a few weeks Kyle,s VLCFA’s had decreased considerably and
his plasmalogen levels had increased. His liver function stabilised and his
weight began to increase steadily. He became more active than he had ever been
and he was much more alert and reactive than we had ever seen him. He was very
content in himself. We joked with Dra Martinez as we left Barcelona that she
had given us a ‘new’ son – and she had.
Kyle is 2 years old this November and he remains a very happy,
content child. His sight is quite difficult to determine although he certainly
reacts to lights and perhaps can see ‘shadows’ of people. He has mild to
moderate hearing loss and has recently received hearing aids. His muscle tone
is still very poor although it has certainly improved since beginning the
therapy. He is still fed by a g-tube although his swallow is quite strong. It
has proven quite a task to get him to feed by mouth, but we are confident he
will eventually manage it. Thankfully, we have not had to visit our GP for
months now for antibiotics for chest infections. Kyle’s days are filled
with playing with his toys rolling and playing with his sister Katelin (who
adores him!) and he constantly smiles, laughs and is full of fun. It is
difficult to know where to begin to thank Dra Martinez. Not only has she
given Kyle a quality of life we did not think was possible, she has given us,
as a family, a quality of life. Not only has she given us a quality of
life, she has given many other families like us a quality of life. Not
only has she dedicated herself to these children, she cares for each one of
them as individuals.
We are eternally grateful to her for her care.
