October is Dwarfism Awareness Month! And in honor of this month I
thought it would be a good time to share some information about Ryan and his
condition.
First, the most important thing to know about dwarfism is …
WE LOVE IT WHEN YOU ASK QUESTIONS!
Please ask me and/or Ryan why he is so small. Ask us what you're
concerned about. Give us a chance to help you understand. One thing I've
learned over the past six years is that acceptance doesn't exist without
understanding. And so we LOVE it when you want to understand.
Here are some typical questions that I have come across.
Is dwarfism hereditary? Well, yes and no. In our case no. My husband and I are both
average height. In fact, more than 80% of little people are born to average
height parents. Scott and I had no idea that our son had achondroplasia until
after he was born. Many families learn about their child's dwarfism during
pregnancy. Which for me, would have made delivery and the first couple of
months a lot easier! I'm a bit of a planner. And I certainly hadn't planned on
my baby having dwarfism or having the endless possible complications that come
with it. But just days after his diagnosis, Ryan taught his plan-crazy mom that
perfection can't be planned.
For little people, the chance of having a baby with dwarfism
is much more likely. And that is definitely the case for Ryan. He carries one
dwarfism gene and one average-height gene.
How did Ryan get achondroplasia?
Achondroplasia is caused by a change with the FGFR3 gene. During
fetal development, the skeleton is made up of cartilage. Normally the cartilage
converts to bone. But for Ryan, this didn't happen.
The FGFR3 gene is responsible for the production of a protein that
is necessary for bone growth and maintenance. For those with achondroplasia,
the gene has mutations that cause the protein to be overactive and to interfere
with skeletal development.
This genetic change occurs only 1 in 26,000-40,000 births (that's
0.0025%!).
In comparison, the chance of having identical twins is 1 in 250
(that's 0.4%!).
We definitely consider ourselves winners of the genetic
lottery!
How small was Ryan as a baby? Since Ryan is so much smaller than his
peers, you'd think he was a fraction of their size as a newborn too. But
actually, many babies with achondroplasia are born in the typical height and
weight range. Ryan was 6lbs 15oz and 19" long. But if you looked closer,
you'd definitely notice that his head was big while his arms and legs were short.
There were other signs like his "trident fingers" and the ear
infections he got at just two days old. We may not have seen it right away, but
looking back we had many indications.
Does Ryan have medical problems? Ryan is doing really well! Overall, a
person with dwarfism will lead a perfectly full and typical life. People with
dwarfism have normal life spans, normal intelligence and pretty good
health.
But there are many complications with dwarfism to watch and
possibly manage with surgery. The severity of complications varies a lot from
person to person. Ryan has had sleep apnea corrected by tonsil and adenoid
removal. He had ear tubes placed at 9 months old and we monitor his ears now
since the tubes left holes ("lucky" Ryan this isn't typical). He has
also had MRI scans to watch for spinal compression and hydrocephalus. Ryan’s
first year was extremely hectic and stressful as we went down the list of
complications, doctors, tests and procedures. But we made it and today we are
managing his needs as they come up.
Ryan has a lot of doctors that help us keep him doing well and are
also available to navigate needs as they arise. Ryan has a Pediatrician,
Genetic doctor, ENT doctor, Pulmonary doctor, Neurologist and Endocrinologist.
He's proven to be quite tough when it comes to constant doctor visits and
tests!
How tall will Ryan get? The average height of a person with achondroplasia is 4
feet tall. Ryan's torso will be the majority of his height since his arms and
legs are short.
Is Ryan a "midget"? NO. Definitely not. The world "midget"
(or M word) is considered very offensive to people of short stature. The word
was used back in the late 1800s during the "freak show era" to
describe little people that were displayed for public amusement. Which is why
it's so unacceptable to most little people today. Like anyone with a difference
or disability, little people should not be laughed at. Ryan likes being called
"Little Big". And the term Little Person is also good. Referring to
Ryan as a "person with dwarfism" is ok too. Another option is to
simply use the person's name. Ryan goes by "Ryan" with friends and teachers
and by "Ry" at home with me.
What do you need to do at home to accommodate Ryan's
needs? Some people
prefer to renovate their home to accommodate the needs of a person with short
stature. Which is wonderful since it makes for an easy and comfortable home
life. For Ryan, we have made some changes, but we also want to make sure that
his normal habits are to adapt and adjust himself. The world isn't going to be
renovated, so we want to make sure that he gets plenty of practice with chairs,
stairs, doors, etc. at home. We have made adjustments in places like the
bathroom for his personal care and the stairs for his safety. Perhaps as an
adult he will make more accommodations in his own home. Or perhaps not. He's
pretty good at adapting in the big world!
This is good start to understanding dwarfism. I hope you found it
helpful and interesting. Thank you for your interest! And don't forget to ask
us questions!
