Julie was born uneventfully in the summer of 1998. Her induced delivery went very smoothly and easily and big sister
Robin was delighted to have a little sister! Julie was a very content, sleepy baby who seemed to eat and grow just fine.
A few minor concerns in the first few months included a very large head (95%+), very loose hips and torticollis. The
pediatrician did not find any problem with her hips, but did suggest an MRI for hydrocephalus (water on the brain).
We demurred because she was otherwise unsymptomatic. We did do exercises at home for the torticollis which seemed to
resolve by six months old. The only other remarkable thing about Julie's first few months is that she slept through
the night at 3.5 months!
I noticed around 4-5 months of age that Julie's gross motor skills were a few weeks behind where her sister's were at
the same age. The pediatrician was not concerned ("all kids develop at their own pace"). However, I was concerned
when, at her six month portrait at Sears, Julie could not yet sit up on her own like her sister could at that age. She
wasn't rolling yet, either, and still had trouble lifting her head off the floor when on her stomach.
Julie did finally sit well between 8 and 9 months old and also started rolling at this age. By ten months old,
she was rolling to get around the living room but was nowhere near crawling. At eleven months, she learned to commando
crawl, which means pulling herself along with her elbows, dragging the rest of her body behind her. I called the pediatrician
in a panic because she was clearly so far behind her sister at this point, who had been crawling and cruising for a while
by 11 months old. The pediatrician said to exercise her legs by letting her climb on me and by holding her standing
on a mattress and she'd see how Julie was doing at the 12 month appointment. I got off the phone and realized that Julie
had never climbed me the way her sister had! I tried the trick with the mattress and discovered that Julie could not
bear weight on her legs.
At the twelve month visit, my overly calm pediatrician pronounced that Julie had low muscle tone, or hypotonia.
She showed me how Julie's head lagged behind when she pulled Julie up from lying on her back by the arms. She also showed
me how, when holding Julie under the armpits, she seemed like she'd slide right through her hands. Her shoulders were
up to her ears without the muscle tone to hold up her own weight. The pediatrician said that we could try some physical
therapy (PT) "if we wanted to" but that Julie would outgrow the hypotonia whether we did PT or not. I was so thrilled
to finally be taken at least somewhat seriously!
I started PT privately with Julie three times a week. Early Intervention (EI) was not able to see her for a month
and I was unwilling to wait. Julie started making progress very quickly and was crawling by 13.5 months. She pulled
up to stand soon after and was also finally able to get into a sit from the floor. After many false starts, she finally
walked at 17 months. We left PT at 18 months with assurances that she would be "fine."
She did make progress in the months that followed, but after she turned two, it seemed to me that her progress stopped.
At two and four months, I took her back to the pediatrician, again in a panic, because she had not made any significant progress
in months. At that point, she could walk, but she was clumsy and fatiguable. She could not run or jump and stairs
were very hard for her. She could not even step up or down a curb without holding a hand for support. I confronted
the pediatrician about her prediction that Julie would outgrow the hypotonia and she was again rather blase, but suggested
that a visit to an orthopedist and a neurologist would be options to consider. She also suggested a PT evaluation to
see where Julie was in terms of her skills.
Julie started right in with PT once a week at the same place she
went to as a baby. Slow progress began again and she started to become more able on stairs. We saw the orthopedist
after an awful two hour wait only to be told that she has low tone, loose ligaments and flat feet (duh!). He did not
recommend anything to help Julie, saying that orthotics were not proven to do any good and that PT was unnecessary.
We wrote that advice off as time wasted!
We saw the neurologist when Julie was two years and seven months old. He was wonderful with Julie who was not at
all happy to be there. He was the first doctor to say that he saw two or three children "just like Julie" every week
and he was also the first to take our concerns seriously. He noticed her large head and discovered that her dad and
sister also have large heads (it seems that mine is merely average!). He pointed out her continuing head lag and the
fact that she rolls to her stomach to get up off the floor when placed on her back. He agreed that she had hypotonia
and ordered a number of blood tests, including a CPK, blood count, thyroid, lactate, pyruvate, and carnitine. All these
tests ultimately came back normal. He mentioned the possibility of doing an MRI, and EMG, and a muscle biopsy, but was
more interested in following her for a while first. We were not eager to put her through more than a blood test at that
point, so we agreed.
Around the same time, the PT noticed that Julie turned her right
foot out to walk and seemed to drag it a bit, so she recommended that Julie have hard plastic SMOs (supramalleolar orthotics).
It was amazing--she walked straight for the first time in her life!
|Newborn Julie in her favorite pose--head turned to the right from torticollis!
That spring, the PT decided that Julie would do better learning
how to jump in the pool. Julie loves the water, so this worked well for a while and she jumped for the first time on her
third birthday. After that, the PT kept Julie in the pool but Julie started having a harder and harder time with the
half hour sessions. About fifteen minutes in, she would start to cry. The PT felt she was being manipulative and
wanted her to push past her fatigue. Against my better judgement, I let the PT try but in the end we parted ways and
Julie started with another PT in September.
Meanwhile, we had our six month follow up appointment with the neurologist.
He was pleased that Julie was making some progress, but did not think she was where he would like to see a three year old,
noting again her head lag. He mentioned the possibility of a myopathy, but we all agreed to continue to watch her progress.
His moderate level of concern got me thinking more seriously about Julie's hypotonia and with the help of our new cable modem,
my internet research began. The best resource I found was the iVillage child hypotonia board.
Julie also started a five morning a week preschool program that
fall. The preschool noticed that Julie had sensory issues and sent us for a sensory integration OT evaluation.
Julie was found to have some moderate sensory issues, mainly around body awareness and balance. She began weekly SIOT
and the cost was becoming prohibitive, so we also sought services through the school district's intermediate unit for the
first time. Julie's PT and OT evaluations put her at around 25 months functioning in both fine and gross motor skills
at 41 months of age. The good news was that she more than qualified for services, but I was shocked that her fine motor
skills were so delayed.
At that point, three year old Julie could walk and jump a little,
climb and descend stairs one at a time with help from the railing, and pedal a tricycle with a lot of effort. Her balance
was clearly terrible and she tripped quite often. Band-aids on her knees and fat lips were common for Julie from falling.
She also tired very easily. Somehow, she made it through the two and a half hours of morning preschool, but she came
out crying from exhaustion every day and would often fall asleep in the car on the five minute drive home. At the playground,
Julie could climb, swing and slide quite well but after 10-15 minutes, she would need a 10-15 minute rest in her stroller
before she could play again. She was still taking a 2-3 hour nap every afternoon and would have slept more many days
if I didn't have to wake her to pick up her sister from school!
Around the same time, Julie started taking l-carnitine supplements. I learned about this
from the hypotonia board and the neurologist felt it couldn't hurt. A few months later, Julie had a pair of flexible
plastic MAFOs (modified ankle-foot orthotics) made which provided support while allowing her more flexibility to run and jump.
As Julie approached three and a half, remarkable changes started happening. Between the
new PT, the SIOT, and the carnitine, Julie started having a lot more stamina all of a sudden. In January, she came out
of school smiling for the first time rather than exhausted and crying. Her tripping all but disappeared. And her
nap became a more manageable two hours. Amazing. By late spring as her fourth birthday approached, Julie began
to run! Awkwardly, but a run!
Now, at nearly 4.5, Julie is a different child. Her fine motor skills have miraculously
gained two years in one year's time and she is more than caught up, at least according to the OT at the IU. She still
has issues with strength, speed and stamina in her hands, but she is doing well enough given enough time to complete
a task. Her gross motor skills are still at a 3 year old level, but she is quite functional overall. Her biggest
challenges are speed and stamina and her ball skills stink, but it doesn't bother her at this point. She no longer has
an official nap, but she does do better with 20-30 minutes of sleep in the car in the afternoon and sometimes falls asleep
for an hour or so in front of the tv.