Joanne's daughter was on the brink of womanhood. She had breasts,
acne, teenage mood swings and was clearly just a few steps away from
starting her period. Sounds normal - till you realise she was only two
years old.
Yes, two years old.
The Wellington toddler has precocious puberty, a condition in which
the hormones triggering puberty are activated earlier than usual.
Marie was 18 months old when her family began to suspect something was
wrong. Her mother, Joanne, says Marie towered over other children the
same age and she had small breasts.
"My sister, who was a nurse, said to me one day that Marie didn't
smell like a baby, and I thought: no, that's right, she doesn't. She
had a sort of body odour. So I went on the internet and typed in the
words breasts, tall, body odour, and it came back with precocious
puberty. I thought, oh my God."
A battery of medical tests quickly followed. An X-ray of Marie's bones
showed they were older than her chronological age, a clear sign that
she was growing too fast.
Another test revealed she had the hormones of a teenager racing
through her body.
"She hadn't had a period or anything like it at that stage, but
she was pretty close," says Joanne.
Doctors then told Joanne and her husband Andrew that they needed to
give Marie an MRI scan to see if she had a brain tumour, which can
cause precocious puberty in a child so young.
They found a benign tumour near the hypothalamus, and it was this that
had triggered the onset of puberty. The tumour's location, close to
the optic nerve, meant it would be difficult to remove surgically, and
even if it could be taken out, there was no guarantee puberty would
stop.
Joanne says her emotions were all over the place during this time.
"I went on a big knowledge trek and every time the doctors
mentioned something, I'd look it up on the internet to find out
everything I could. It was really scary. I sat in front of the
computer and cried for a week when I found what she had.
"The biggest thing is the isolation. When you're taking your
child for an MRI, thinking about the possibility of cancer, nobody
else really understands unless they've been through it."
But there was good news: Marie's precocious puberty could be treated.
Monthly hormone injections, fully funded, and regular medical
monitoring would stop Marie's premature puberty and slow down the rate
at which her bones were growing.
Wellington Hospital paediatric endocrinologist Esko Wiltshire says
puberty is generally defined as precocious if it begins before the age
of eight in girls or nine in boys. At present, he's treating about
eight patients for precocious puberty in the greater Wellington
region, and though he doesn't know how many New Zealand children have
the condition, he expects similar numbers in other parts of the
country.
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"My sister, who was a nurse, said to me one day that Marie didn't
smell like a baby, and I thought: no, that's right, she doesn't. She
had a sort of body odour. So I went on the internet and typed in the
words breasts, tall, body odour, and it came back with precocious
puberty. I thought, oh my God."
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He says puberty starts when the hypothalamus in the brain signals the
pituitary, known as the body's master control gland.
This then sends a message to the ovaries and testicles to begin making
the hormones that will eventually lead to sexual maturity.
Curiously, Marie's treatment involves her being injected with large
doses of the hormone responsible for puberty.
"It's the hormone that the hypothalamus normally makes to
stimulate the pituitary to stimulate the ovaries," says Dr
Wiltshire.
"In the body, that hormone is normally released in small pulses,
and for the pituitary to respond to it, it has to be produced in those
pulses. By giving a big dose of it that lasts a month, we're switching
off those pulses. It's just a continuous signal to the pituitary, and
that switches the pituitary off."
Joanne says Marie, now four, dreads the monthly injections.
"Because of her age, she doesn't understand what's happening to
her. We've told her that her body has tried to grow too quickly and
she has to have an injection to stop that because it wouldn't be
good. "She spent the first year of treatment screaming every time
the nurse came to the door. She's got a lot better about it, but as
she's got older, she's said things like: 'Could you ring the nurse and
tell her that it's not convenient today?' I always say: `No, sorry,
we're booked in and we just have to do it'."
Marie now has her own set of syringes (minus needles) so she can pretend to give her toys injections.
Side effects such as mood changes, acne, or breast or testicle
enlargement can accompany the medication, but Joanne says Marie has
been largely unaffected. "After she started treatment, she did
have a bleed like a little period for a few hours, and that was really
shocking. She was still in nappies. Andrew took her nappy off and he
said, oh God, look at this. We rang the doctor right away, and he
said: `It's all right, you get that sometimes'."
The other main form of treatment comprises regular medical checks to
make sure Marie's condition is well controlled and that she's not
growing too tall too fast. Children with untreated precocious puberty
grow rapidly as youngsters but stop growing after a few years, leaving
a child who seemed set to be extraordinarily tall instead facing life
as an adult who's extraordinarily short.
Dr Wiltshire says that Marie, without treatment, would probably have
stopped growing at age five or six. Instead, the outlook is good. She
will probably continue treatment till she's about 10 years old, at
which point the injections may stop so that puberty can restart and
proceed at a normal pace.
Joanne says she understands that Marie will be of normal height as an
adult and her fertility will be unimpaired, as a result of her
"miracle" treatment. She's thankful Marie's condition was
detected while she was still very young, and she says that often the
changes appear more obvious in girls.
"I know a little boy who's got it, and his grandmother says: 'Oh,
he's just a big boy.' Well, he's a big boy now at four, but he won't
be at eight unless he's treated.
"We're lucky we picked it up so early. There's always a little
ongoing worry that something might crop up, but the prospects are
good, and we don't want this to be the defining feature of (Marie's)
life."
- For more information about precocious puberty:
www.magicnz.org.nz
- Names have been changed in this article.