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Julie's Website
Julie's Hypotonia Story

New! PT 2011
August 2008 Bethlem Myopathy/Ullrich CMD conference notes
October 2005 Bethlem Myopathy/Ullrich MD conference notes
Update 2006
Update 2005
Update 2004
Julie's Hypotonia Story
The Medical Puzzle
The Muscle Biopsy
The Diagnosis
Physical Therapy--updated in 2008!
Seating at school
Julie's Wheels
The Sleep Studies
Julie's flexible Daddy
Bethlem Myopathy--DNA and Muscles
Julie's Bethlem Myopathy Book

Julie at 6 months. She couldn't sit, so we propped her in the chair!

Julie at 1 year. She could sit, but this one came out better than the slumping sitting pictures.

Julie at 18 months--just started walking and sitting up well!

Two years old! Julie's really becoming a little girl, now.

Julie's first school picture at 2 1/2. That was the year of the styes....

Julie is 3! Little did we know what a big year of growth and change this one would be.

Julie's school picture, age 3.5. Look how nice and tall she is sitting!

Julie is now 4. With her short haircut and fancy dress, she looks like such a big girl!

Our family picture when Robin was six and Julie was three. Also includes Blankie and beeper!

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!

Julie, age 1.5, and her typical W sit

"W" sitting is a classic sign of hypotonia.  Children who are hypotonic often have lax ligaments as well and that allows them to assume interesting positions.  Also, the low tone makes the W sit particularly comfortable because few muscles are taxed.  It is very bad for the joints, however.

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.