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Ever wondered about our member support groups - how they got started,
what conditions they represent, what they do, what all those abbreviations
stand for? Wonder no more! With each newsletter, we will be featuring
one of our support groups, finding out more about the group's history,
the services it provides, the condition associated with the group,
and what it is like to live with that condition...
SAKKS - Supporting Aussie Kids with Kabuki Syndrome
We hope to offer support to other families just like ours...
About SAKKS
To help support those affected by KABUKI SYNDROME, we (Peta and Adrian), decided to
start this website. We hope to offer support to other families just like ours.
SAKKS offers information, external links to genetics departments and research as well as
links to medical information, a forum and a stories page with personal accounts of the
challenges of coping with a child that has KABUKI SYNDROME. It also offers
photographs, contact with other parents, membership, sibling information, early
Intervention and educational links and of course - support.
REMEMBER you are not alone. Others have been there before you and will help catch
you if you fall. Thankyou for visiting www.sakks.org
About Kabuki Syndrome
There are many features which can occur in
Kabuki syndrome but not all are seen in
every child. Features seen in Kabuki
syndrome are:
- Unusual facial features.
- wide eyes with arched, interrupted eyebrows
- large and low-set ears
- depressed nasal tip
- Short stature
- Skeletal abnormalities such as short fingers, loose joints
- Intellectual disability, which
varies from mild to severe. Most
individuals with Kabuki syndrome have a mild to moderate intellectual disability.
- Many other features are sometimes seen:
- Cleft lip and palate
- cardiac abnormalities
- urogenital and kidney problems
- anorectal and intestinal problems
- immune abnormalities
- ear infections and hearing loss
The cause of Kabuki syndrome is not
known. It is thought to be a genetic
problem and research is ongoing to try to
identify the cause. In most cases of Kabuki
syndrome, there is no family history of the
syndrome. Kabuki syndrome is found in
males and females equally.
Reference: American Journal of Medical
Genetics 127A:118-127 (2004)
Treatment
There is no cure for Kabuki syndrome but
there is a lot that can be done to ensure
good health in a person with Kabuki
syndrome, and to make sure that each
person with Kabuki syndrome achieves their
full potential.
Our story: Zachary - Worth Every Tear
By Peta
Our little man Zachary was born in
November 1997. He has Kabuki Syndrome.
A routine ultrasound of our twins showed
that our little boy was very sick. He had a
condition called Hydrops Fetalis. At 31
weeks an emergency C section was
performed. Through the ether I remember
the doctor telling me “it looks grave”. After
delivery I remember being wheeled on my
bed to NICU to see my babies, twin 1, our
little girl Hannah was tiny but doing fine,
twin 2 our little boy was seriously ill. My
world had changed that day forever. I can’t
explain the pain I was feeling - a
combination of fear, loss, and grief.
The day you enter NICU nothing can prepare
you for the roller coaster journey that
follows as a series of steps that lead you to
here, this day.
I spent the first 10 days as a patient at the
hospital, which allowed me to spend every
minute with the twins. Hannah graduated
from NICU, to SCUBU 1, but decided on
another short stay back in NICU a little later.
The first priority for Zachary was to drain the
fluid that filled his body and chest cavity, so
many drains, so many tubes, so many
probes, and machines that went beep.
Expressing milk gave me something else to
think about every few hours.
Zachary was on a ventilator and a zillion
drugs to keep him going, and after a few
days it was necessary to do a complete
blood transfusion. This was successful and
his next achievement was going to be to
poo. He also had a cranial haematoma.
The time had now come for me to go home
and leave my babies behind. It was the
hardest day of my life. My husband sat at
the wheel and my two beautiful daughters
sat in the back and I howled all the way
home. I cried and cried. I remember
pushing my girl’s beds together and sleeping
in the middle that night, but my husband
Adrian needed me too.
Next was a routine of getting up, putting
breast milk on ice, dressing and feeding the
girls, and going to the hospital. Our girls
were part of the furniture in the hospital
crèche, and their world had changed
significantly too.
One particular day, I remember skipping into
the hospital with Adrian after being told
Zachary had finally pooed. After walking
through the doors with big smiles we were
asked into the doctor’s room for a chat. Our
happiness turned to devastation as we were
told our little man had a coarctation of the
aorta. For now they would keep him alive
with hourly doses of Prostin and when he
was at least 2 kilos he could have surgery to
repair his heart. He didn’t grow and he
developed a necrotising bowel disease which
hindered his growth even more.
After 5 weeks we were allowed to bring
Hannah home. This was short visit home
because she had Pyloric Stenosis, so back to
hospital for her for some surgery along with
our 5 year old that had her adenoids out at a
different hospital. I was taxiing breast milk
and my love and mothering between 2
hospitals; 3 separate wards at the same
time. On Hannah’s last night in hospital I
stayed in the parent’s room. After little
sleep I woke up with Zachary’s cardiologist
standing at my bed. He told me that we
were booked on a flight to Melbourne’s
Children Hospital for Zachary’s heart surgery
for the following morning. Even though
Zachary wasn’t 2 kilos yet but he never
would be if he didn’t have the surgery. Our
girls stayed with my parents.
The surgery went well, but his blood
pressure was a worry and after 10 days we
flew back to Adelaide.
Zachary spent a couple of days back in NICU
then graduated to SCUBU 1, where his
health improved little by little, he would then
have surgery for his hernias and
undescended testicle.
One of the other complications for Zachary was his cleft lip and palate. He did not
tolerate any oral stimulation and could not
suck. He was fed through a naso-gastric
tube. It was decided that we could take
Zachary home on N.G. feeds and we fed
Zachary 20 mls every 2 hours; we had a
suctioning unit to clear his throat. As you
can imagine with the two of us feeding him
so regularly day and night there was little
time for anything else especially dishes
which were piled 5 feet high.
I guess I was lucky I had older children so I
wasn’t a new mum. The usual scary things
weren’t an issue, but I must say that the
challenges of Zachary were sometimes
unbearable. To mention another of his
problems were kidney gravel or stones and
his nappy was often full of blood. This can
be very daunting, and our usually placid
happy boy was in agony when they
happened.
Adrian and I kept a record chart of fluid in
and out, bowel action and respirations,
Zachary’s respirations were too fast, and he
was constantly turning blue. On Good Friday
whilst visiting my parents we rang the doctor
to tell him our son was very blue, he told us
to come in and we did. A chest x ray
showed that he had inhalation pneumonia
caused by his very severe reflux, he was
very sick.After he was over the pneumonia it
was decided that Zachary needed to have a
feeding button surgically inserted into is
abdomen and also a Nissen Fundoplication
was performed. This is a wrap of the top of
the stomach to stop stomach acid from
going back up.
On Sunday, we were having a lazy morning
in our pyjamas when the phone rang, it was
the surgeon who performed the operation,
we were informed that Zachary was acute,
and he had peritonitis. When they put the
feeding catheter into his stomach it had
travelled down into his duodenum and out
into the pelvic cavity, consequently he was
fed into his pelvis for 2 days.
On our arrival Adrian and the girls talked to
the doctor while I ran into PICU. He lay limp
on the bed while doctors and nurses were
busy doing what they do. His tiny veins had
shut down, and the doctor’s hands were
shaking as he probed and probed for a vein
to put the lines into. At one point he asked
me to help and make him cry… he was
hoping to stimulate a vein by doing this.
Zachary didn’t, he just lay there speaking to
god I imagine. I couldn’t and wouldn’t
move, I needed to be there. There wasn’t
any time left, so without any lines in they
rushed him to theatre. He returned to PICU
after the surgery and was very sick. I can’t
believe we nearly lost him again.
A week or so passed and we brought
Zachary home. He had severe diarrhoea that
never stopped, it was so bad that his
backside was raw, and we kept him on blue
sheets instead of nappies. We couldn’t go
anywhere. We tried but it just didn’t work.
It wasn’t too long before he was back to
hospital for the first of his craniofacial
surgery – they repaired his lip and inserted
grommets into his ears and when saw
Zachary’s new mouth I was a little torn.
This little man looked so different now. Very
cute, but I had become so used to the way
he used to look that at first I wasn’t sure if I
like the new him.
Eventually after months of enquiries I had
the services of physiotherapy, occupational
therapy and speech pathology. They came
to our house weekly and fortnightly with
advice and help.
The diagnosis of kabuki syndrome happened
around this time. While we were seeing the
gastroenterologist he happened to mention
that the pit in Zachary’s bottom lip looked
like one he had seen before on a child with
Kabuki. That night we were talking and I
asked Adrian what was the name of the condition the doctor mentioned today and he
said he thought it was something like
kabuki, so we turned to our smart friend;
the internet and typed in the word we heard
that day, the same word that has impacted
on our lives for 9 years.
It was quiet as we read the synopsis, this
was our son and up until now our son just
had some medical problems; he was going
to be alright eventually. We quietly agreed
that this condition was a possibility.
We had an appointment for Zachary’s
pulmonary specialist. When we spoke to him
and told him all that we had learnt, we
asked at what age can you tell if a child as a
intellectual disability? He looked at us and
quietly said “now”. Even though I loved this
little man with my whole heart, I had to let
go of the son I thought I was going to have.
An appointment was made to see the
geneticist. It was really just a formality and
I think they knew the answer before we
arrived. The diagnosis was confirmed and
Zachary was stamped with the title of Kabuki
Syndrome.
One of the biggest mile stones was eating.
He just hated anything in his mouth; he
arched and screamed when we tried. But I
pictured him at lunch time at school being
fed through a tube while others ate, so for 6
hours a day every day we worked on
swallowing and eating. It was the hardest
thing I have ever done and I remember
thinking at the time that it would never end,
but it did. He screamed and screamed when
I tried to feed him, and it was exhausting
but every day more and more was being
swallowed. His improvement was being
helped by his hunger. I would sit him on
plastic with all sorts of food to play with and
one day I put a big bowl of spaghetti
bolognaise on his lap and he picked it up
with his hands and yes it was going to his
mouth; and yes he was putting it in; silence
and anticipation as I watched the handful of
wiggling strands of spaghetti; and yes they
were going in; he repeated this until it was
all gone. He had independently eaten all by
himself. It finally happened he was enjoying
food. We look at Zachary today as he’s
asking for seconds and it’s hard to imagine
any of this.
Babies usually learn all the basic stuff on
their own, but I had to teach Zachary
everything. To help Zachary with his speech
we spent a lot of time sitting in front of the
mirror sounding out letters, I would get him
to talk and watch his mouth in the mirror.
Actually speech was just as much hard work
as eating. Until he was five he was
completely incomprehensible. So lots of
hours were spent teaching him sounds.
Zachary and his twin Hannah started
kindergarten. We were lucky enough to find
an excellent place not too far away. The
principal was the most fantastic lady. There
were a couple of other special needs kids
there; one with cerebral palsy and another
with a rare condition. I found it amazing the
natural and almost instant bond that formed
between the kids. The little girl with
cerebral palsy was Zachary’s first girlfriend.
It was probably around this time Zachary
had his next lot craniofacial surgery. We
decided that whilst he was having his palate
stitched he would have his ears pinned and
nose redone and the pit in his bottom lip
removed. We felt mean do this to him, but
his ears stuck out and it was just another
barrier to him being socially accepted.
We have been lucky enough to get Zachary
into the same school as his sisters – it’s a
great school and he has great support. In
just 1 year he us gone up 19 levels in
readers, can catch a ball, run, and is making
good friends.
During the Christmas carols at the end of
last year he stood proudly and sang two
songs, I don’t remember the songs but I will
never forget the emotion. Sometimes I
could cry forever at how much we have been
through. But looking at him right at this
moment he is worth every tear.
Thanks to Peta for sharing her story.
Meet some of our other support
groups...
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