Today, our little Leah turns 1 year old…can you believe it?!
We certainly can’t. We didn’t have the easiest first year, but it has most
definitely been worth it. Leah is a walking, signing (and occasionally
talking), ball of energy. She loves to dance, give kisses and hugs, tear apart
bookshelves, see babies, and play with her big brothers and sister. Pat-a-cake
and the Itsy Bitsy Spider are her favorite songs and any book with pictures of
babies are always a winner, especially Daddy Loves Me. She is a mama’s girl,
but loves her daddy, too, and we of course, adore her! This past year has
brought us so much joy but a few fears, as well. We have had several health scares with our
little Leah and over the past 8 months, we have been led to what we think are
the answers. The rest of this post is long, but I really hope it’s worth the
read.
I actually wrote this back in October because October is
Dwarfism Awareness Month…but, something held me back from posting it then. I am
posting it now in hopes of raising awareness for all little people.
One year ago today, we were blessed with our 4th
child, a beautiful little girl. My pregnancy with Leah was similar to Noah and
Emily’s—lots of painful, timeable contractions that led to nothing but a few
extra ultrasounds to make sure she wasn’t coming out early. During those
ultrasounds, we were able to confirm that she was indeed a girl, had a big
noggin with little to no hair, and short legs that would all put her to be
about 6.5 pounds on her due date.
Fast forward a few weeks, and 9 days BEFORE her day after
Christmas due date, our little Leah decided it was time to make her grand
appearance—7 lb 14 oz and a head FULL of dark hair. So much for ultrasound
predictions, we thought.
Leah was born with a skin tag on her ear and a deep sacral
dimple at the base of her spine. The skin tag could be indicative of other ear
and/or kidney problems since they develop at the same time, but her hearing is
fine, so it is most likely just a cosmetic issue. The plastic surgeon would
like to remove it now that she is one, but we will probably wait until she is
older. The sacral dimple being as deep as it is, could also be indicative of
other problems, and was much more of a concern for us. An ultrasound in the
hospital ruled out the scariest of these problems—spina bifida. It did,
however, point to a possible tethered cord, which would have to be released by
a neurosurgeon. After months of worry and a brain and spine MRI, the
neurosurgeon gave Leah the all clear—no tethered cord, just a small cyst that
will shrink and eventually, disappear on its own. She does have some fluid on
her brain, but it will not cause any problems.
When Leah was first born, she was a very sleepy baby and it
was almost impossible to keep her awake to nurse well. By her 2 month
appointment, her weight and height both had dropped to the 16th and
17th percentiles, respectively. Nothing super concerning, aside from
being clearly skinny. We managed to get into a good routine and after a week of
weighted feeds, she started staying awake and packing on the pounds. By her 4
month appointment, her weight was still only in the 20th percentile,
but she was looking fuller. Her height was still on the decline, though, down
to the 4th percentile. It was at this point, with her head
circumference in the 90th percentile that I remembered back to all
of those ultrasounds I had with her and her large head and tiny legs. At my
last ultrasound with her, there was a 6-7 week discrepancy between her head and
femur measurements, to which my OB said—yep, there is a discrepancy, but
there’s nothing we can do about it now. With Leah’s other issues after birth,
we really didn’t even think about her head and legs.
By Leah’s 6 month appointment, her weight was on the rise at
the 40th percentile, her head was aTthe 95th percentile, and
her length was now at the 2nd percentile. Our pediatrician still
thought it best to wait and see—so, against our better judgment, that’s what we
did. At Leah’s 9 month appointment, her weight was still going up, at the 60th
percentile, head holding steady around the 95th percentile and her
height had now fallen off the charts. After months of worry, we finally got a
referral. Leah’s pediatrician wanted to start with an endocrinologist even
though she does not believe Leah to have an endocrine issue. When we met with
the endo, she agreed that Leah likely does not have an endocrine issue and her
disproportionate features are more likely to be a form of dwarfism.
Leah has been referred to a geneticist now, but we were
unable to get an appointment with him until January. Our endo has been amazing,
though, speaking directly with the geneticist minutes after our appointment.
She is ordering tests in collaboration with him while we wait for January. He
looked over Leah’s growth chart, medical history, and the notes the endo gave
him and believed Leah’s most likely diagnosis would be hypochondroplasia.
Hypochondroplasia is a form of dwarfism similar to, but
typically more mild, than achondroplasia (the most common form of dwarfism).
Females with hypochondroplasia typically stand between 4 ft 2 in and 4 ft 11 in
tall. Children with dwarfism have smaller airways and can have issues with
breathing/snoring and sleep apnea. They often have low muscle tone, causing
delays in gross motor development and can also have issues with compression of
the spinal cord.
We had a skeletal survey done for Leah, which came back
normal, so at this point, we are still without an official diagnosis, other
than short stature. Hypochondroplasia can sometimes be so mild on x-rays that
signs of bone deformities will not show until an older age, so we still feel
like this is the most likely culprit given her measurements and physical
appearance. We will likely have the chance for a genetic test (which only
catches 70% of hypochondroplasia cases) in January, but we will have to wait
and see. There are over 200 kinds of dwarfism, some unique to 1 individual.
There are also a myriad of endocrine and other genetic issues that have yet to
be totally ruled out. Altogether, this means we could realistically go years
without a diagnosis for Leah, other than short stature with an unknown cause.
At 1 year old, Leah is wearing 3-6 month clothing, even
though she weighs in near 22 pounds. If she weren’t so chunky, she would likely
still be in her 0-3 month pants. The rolls are nommable, though! She is short,
but she is also happy, healthy, and oh-so-adorable! She still nurses well and
eats table food like a pro—no seriously, think NFL player...the girl can pack
away some food! She sleeps well (finally!), but she does snore (LOUD!) and may
eventually be referred for a sleep study. She was slower than our other kiddos
to gain good head control, but she’s been crawling, pulling up, and cruising since
just shy of 7 months and has been taking steps for about a month now and fully
walking for about 2 weeks, which is AH.MAZ.ING! For now, her gross and fine motor
skills are right on track, if not a little ahead. If other health issues arise
in the future, we will meet them head on.
Right now, Leah is on target to reach an adult height around
4 ft 9 in. Her growth will likely slow as she gets older, though, so for now
there is really no good estimation of her adult height. Leah will be little,
regardless of her diagnosis, or lack thereof. She will also be amazing and unique
and loved and she will know that she can do anything. We are so blessed to be
her parents and wouldn’t change a thing about her!
We never dreamed we’d have reason to know so much about
dwarfism and no matter what may or may not be going on with our little girl, we
wanted to take this opportunity to share our story and spread awareness. Since
learning of Leah’s issues, we have seen a few things here and there that are
seemingly harmless, but really hurtful to a little person or a parent of a
little person.
Many people probably don’t realize that use of the ‘M’ word
is seen as offensive to the little people community. Dwarf or little person are
more acceptable ways to refer to someone with a skeletal dysplasia. Really,
though, Leah and other little people, don’t need labels. Their names typically
work just fine. Afterall, a person’s a person no matter how small (thanks, Dr.
Seuss!).
