Posted on Facebook October 6, 2014
Josiah has always been delayed. He didn’t walk until 18 months,
never ran, couldn’t jump, speech delays, etc. By the time he was 2, we started
to notice that his younger (by 16 months) brother was catching up to and
passing him, particularly with speech. So, when Josiah was 2½ he started speech
therapy. At that time, he used single words only; he wasn’t saying two and
three word phrases. He continued speech therapy, and when he was 4, also
started to receive PT and OT. This continued until he was 6½. At that point, he
started kindergarten at a wonderful school for kids with learning
delays/disabilities of all kinds, and we took a break from therapies to see how
he adjusted to school, what he still needed, etc. Also, that year public
schools stopped offering non- enrolled students all the services he had been
receiving.
Near the end of his kindergarten year, we decided to have some
testing done to see if he fell on the autism spectrum, had a sensory processing
disorder, etc. The outcome of that testing was basically that he was not
autistic, but had a variety of different delays/disorders – most significantly
with speech (cognitive). Earlier this year Josiah started seeing one of the
best therapists in the area for his type of therapy needs. The speech therapist
is on the second floor and Josiah had a noticeably difficult time climbing the
stairs. He had not had to climb stairs on a regular basis in two years, and we
assumed it was the lack of PT, so we started looking for a PT.
This next part is full of details; I’m including those for two
reasons
1. When I started looking for information to compare to our
situation, I was so thankful for the bloggers who had put info out there.
2. The way so much of this fell into place, with the timing of
appointments, referrals to doctors, etc, can only be God’s hand moving on our
behalf.
While visiting family in Texas, my mom commented over and over on
how much he was struggling and how concerned she was. I assured her that I had
noticed and was trying to get him in to a physical therapist. The day we left
to go home, she went back to work and was sharing with her boss (a dermatologist),
how our visit had gone, and that led to her sharing her concerns for Josiah.
After sharing some of the examples of his movements, the doctor mentioned she
had a friend who was a pediatric geneticist and she would contact her and see
what she thought. She also shared that her father’s main field of study and
teaching had been muscles, and she had done a paper on it back in school. She
specifically remembered the Gower’s maneuver. The geneticist replied right away
that Josiah should have further testing done because he could have muscular
dystrophy – Duchennes or Beckers. My mom started looking that up and was
floored at how much the descriptions matched Josiah. That was on a Tuesday.
Wednesday night my mom shared this information with me. I spent
the rest of the night researching and crying, because the symptoms of MD did
match up with Josiah. He got up using the Gower’s maneuver, had always had
large calf muscles, had the learning disabilities that 1/3 of DuchenneMD patients
have. I read about how boys with DMD (Duchenne MD) are in wheelchairs by age
12, how they often end up with scoliosis and may require surgery, that the only
“treatment” is corticosteroids, which only slows the progress, how the MD eventually affects their heart and
lungs, with a life expectancy of mid to late 20s. Becker MD is similar to
Duchenne with the main difference being that it progresses slower. Duchenne is
normally diagnosed earlier, but in some cases, especially in those with the
learning disability factor, it can be overlooked until later.
Bennett and I were devastated; surely Josiah didn’t have that. It
was too awful to consider.
The next morning (Thursday), I called the pediatricians office as
soon as they opened. I told the receptionist that I was concerned Josiah might
have muscular dystrophy. The doctor did not have any open appointments, but they
put me on hold while they checked with the doctor. They said the doctor would
call me later that afternoon, and scheduled an appointment for the next week. About an hour later, the doctor’s office
called back because there had been a cancellation for that very afternoon. The
doctor’s observation was that there was some muscle weakness, but she would need
to refer us to a pediatric geneticist. She said she could run some blood work,
but if it wasn’t what the geneticist needed…she didn’t want us to pay for an
unhelpful test. However, she had a good friend from college who was a…
pediatric geneticist. What are the odds? She said she would call her and get
some additional feedback. An hour later I had a call from the nurse that the
doctor had spoken with her friend and had ordered the lab work. Josiah and I
went that same afternoon and had his blood drawn.
By Friday morning, the doctor had some of the results back. The
main one being that Josiah’s CK (creatine kinase) level was 7,000. Normal is
less than 500. A high CK level means there is muscle damage. She stated she
wanted to refer him to a pediatric neurologist, pediatric geneticist, and a
cardiologist for a heart echo (to get a baseline and verify his heart was
functioning normally). Friday evening I saw some good friends. When I was
updating them, they asked which pediatric neurologist we were being referred
to. It was the same neurologist their son had seen.
The heart echo was scheduled, the neurologist referral was sent,
and calls were made to the various pediatric geneticists across the state.
Unfortunately, the next appointments at Duke, UNC Chapel Hill, Charlotte, and
Wake Forest were a minimum of 8-9 months away. We decided to make the
appointment with a doctor that my sister in law’s friend had taken her daughter
to at Wake/Baptist. When the pediatrician’s office called to make the
appointment… there was a cancellation and our appointment was scheduled for
October 16th – only two months away.
At the neurologist appointment, he verified that we were on the
right track. He stated that Josiah presented with MD, which could be either
Duchenne or Becker. I inquired about what would happen if the genetic testing
did verify MD; he said he would then refer us to an MDA clinic, probably the
one at Duke. He said that at some point, Josiah would need to see an
orthopedist. He also recommended Josiah see a cardiologist for an EKG. This
would be helpful to have already done when going to the MDA clinic.
The pediatrician set up the EKG, and when we went, it was at a
Duke Children’s office (we live about an hour and a half from Duke). His EKG
was normal. After the test and some observation, the cardiologist shared that
he also agreed that Josiah did have muscular dystrophy. He requested to go
ahead and refer him to the Duke MDA clinic now; as in his experience, children
needing a diagnosis were given some priority over those already with a
diagnosis.
So that’s where we are now. All the doctors and tests agree that
Josiah presents with muscular dystrophy. They geneticist appointment is next
week. We understand that the test results take 2-3 weeks, and that in 1/3 of MD
cases, there are no genetic markers. If that is the case, then the next step
would be a muscle biopsy.
The cardiologist office is working on the referral to the MDA
clinic. We have been told that could very likely be scheduled for 8+ months
out, but that would also get us on the cancellation list for a sooner
appointment if one becomes available.
All of this is very clinical, I know. If I have to write how we
are feeling… we are ok, not ok, glad Josiah can still walk and play, sad,
scared, depressed, hopeful, hopeless, and on and on. Some days you realize that
he isn’t that much different than yesterday and you don’t think about MD. Other
days he falls and you remember that he never used to fall as often, and that
eventually, this disease will take the use of his legs and arms and eventually
him.
Most of his life, we have known that he was different: he didn’t
comprehend or express things the way most people do, he couldn’t get around as
easily, things were more difficult for him, he didn’t play with other kids the
way his brother and sister did. We had somewhat come to terms with some of
those realities. This new reality…I don’t know.
What have we told the other kids? Mainly that Josiah’s muscles are
getting weaker and we are trying to find out why. My ever inquisitive and
always thinking daughter (11yr) took it to the next level, asking “will
Josiah’s muscles eventually get so weak that he won’t be able to walk?” I told
her we didn’t know and that is why we were going to the different appointments.
If the diagnosis comes back as DMD or even BMD, this will all too soon become
reality for them as well.
Two of my favorite songs, especially during difficult times are
Lead Me To The Rock (Maranatha! Praise Band version) and Blessed Be Your Name
by Matt Redman
When my heart is overwhelmed
Lead me to the Rock that
is higher than I
You have been a strong tower, in a time of tribulation
Lead me to the Rock that
is higher than I
And I will abide under the shelter of your wings
Hide in your care, when evil surrounds
I will call your name, when I can’t find direction
You’re the only One in whom I can trust
Blessed be Your name
When I’m found in the desert place
Though I walk in the wilderness
Blessed be Your name
Blessed be Your name
On the road marked with suffering
Thought there’s pain in the offering
Blessed be Your name
We appreciate all of your prayers and support and will update once
we have something to update…
If you would like to read more about muscular dystrophy, here are
a few links
