Once home, things went as smoothly as riding a camel in the
desert with a baby and 2 kids riding along on your camel needing you, constantly.
Ok, it wasn’t that bad, but I’ve pretty much forgotten all unhappy memories
from those times due to sleep deprivation. Anyway, 2 months in, and I was
concerned. Josslyn did not pick up her head during tummy time, at all. Pediatrician
told me all kids are different and “wait and see.” This was the beginning of
our roller coaster. I switched pediatricians because naturally, he was wrong
and I was right, and I was going to find a pediatrician who understood that
something was not right. Another one told us that she would need an MRI and neurology,
when I asked him for a PT consult. We were not jumping into an MRI until we
tried physical therapy. She was seen and diagnosed with Torticollis. We did PT
a few times a week and continued at home. Joel’s aunt, who is awesome, is a
Pediatric PT and she was very supportive during this time for us.
Josslyn got better, her torticollis was gone, but she was
still very weak in her neck. She wasn’t rolling, pushing her head up…doing
things our older “monkey children” had done much earlier. Something was wrong.
We switched to a new pediatrician, got an Early Steps
evaluation, switched to a closer PT. We also went to our first round of specialists:
spinal surgeon, orthopedist, neurologist, geneticist, gastrointestinologist, cardiologist,
and pulmonologist. An x-ray had shown an ossification (an extra bony growth) on
her cervical spine (C-2), that looked “promising,” said our doctor who
suggested spinal surgery to correct what “ailed her.” After some MAJOR praying…upon
seeing the spinal surgeon, he re-evaluated her and did another x-ray, which
showed this bony mass was extremely small and could not be the culprit. PHEW!!!
We were happy to pay the $300 for the 10 minutes it took him to tell us that!
Onto the next possible diagnoses: Cystic fibrosis (no),
Genetic abnormality (no), and countless others that I have ejected from my
brain. All of them were a NO, NOT EVEN CLOSE! We did multiple blood tests, multiple
x-rays, and an MRI. “Nothing was wrong,” they told us.
Specialists at Shands Hospital in Gainesville could not help
us, so they told us what all doctors should say to their patients and parents…”Go,
and come back in 6 months. We’ll wait and see if she gets better.” (Yes, not
the answer most qualified, professional specialists should ever say!)
Well, we waited. I went through a tremendous amount of
anxiety and depression. Did I also mention I went back to school to finish
classes in Chemistry in order to apply for Physician Assistant School and
working full-time? It was an awful combination. Thankfully, Joel and I managed
to keep it together and we came out stronger because of it. (More on anxiety
and depression in an upcoming post). Long story short: I went back to work,
finished my classes, all while we were in the “Wait and See” period. I didn’t
get into a PA school (devastating…did I mention the anxiety and depression?!) but
I was ready to quit working and be back at home with all of my kids.
We now decided to pursue an answer…nothing was going to stop
us! Big kids went to a local school and we began to see a new neurologist at a
new hospital 80 miles away. He performed tests and when the tests came back
negative for SMA (Spinal Muscular Atrophy), he told us …. Wait for it … “Go and
see my colleague Dr. Finkel at Nemours in Orlando. He’s much more specialized
and if anyone would have an answer for you, he will.”
AMAZING!!! Here was a doctor who had done everything in his
scope and when no diagnosis was found…he referred us to a doctor that was more knowledgeable
and had a wider scope of neuromuscular issues.
We went to Dr. Finkel in Orlando (130 miles away) on
Wednesday, February 5, 2014 at 4pm. He was immediately warm and personable. He
did ask me to rehash the whole story of Josslyn and so I did. He took detailed
notes and asked me questions along the way. When we had finished all of that
talking, he had Josslyn and I go for a walk where he watched her walking,
running, timed her going up and down stairs, getting up and laying back down.
Josslyn LOVED this! She is competitive in a quiet way, and loves to show all
that she can do! We went back into the exam room, where he examined her. All
this time, a genetic counselor, Carrie, was with him. She is always kind and
sweet. We spent a total of 2 hours with him and Carrie. They are AMAZING!
When Dr. Finkel said, “SEP-N1,” while examining her back, and
at that statement my stomach plunged, my heart skipped a beat and I had this
nauseating feeling that we were finally going to get an answer! Then my mind
went crazy: would it be an answer I want to hear?! Would it be better not to
know? What will this mean for her? For us? And then God gave me peace, a peace
that surpasses all human understanding and He told me to be calm. I fought back
tears. I could feel this was it…finally. Dr. Finkel explained what SEP-N1 is (a gene on
the human genome that is newly recognized as being a genetic marker for people
with the umbrella term of Rigid Spine Disease). We spoke about genetic testing
and how that would be done. Josslyn hugged him and said she couldn’t wait to
come back again!
On Tuesday, April 22, at around 4 pm, I received a call from
Dr. Finkel and Carrie. Josslyn was positive for the SEP-N1 genetic test as she
has a double mutation on her SEP-N1 gene which was extremely rare and in fact,
there were only 2 cases on record with the same mutations: a brother and sister
in England. (Note: We have tried to contact their doctor through our doctor,
but have not yet succeeded. If we can get in touch with them, we would be able
to ask them specific questions and see how their children are doing now at
around ages 10 and 12.)
Our world was both blown up and rebuilt. We finally had an
answer for Josslyn.
Josslyn is very rare…we already knew that! Even though it’s
been more than a year since we’ve received a diagnosis, it doesn’t get any
easier knowing that your child is different and her future might look very
different from what you have imagined it to be, (which is a very selfish way to
look at it…but I’m only human, and I try not to think like that). As my Uncle
Tom told me when the diagnosis was new and I was very upset: “This is not a
death sentence.” That was just what I needed to hear. She’s going to LIVE her
life. She is a kind, sweet, bubbly, strong willed, giggly girl. And we are honored
to be her parents.
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| Welcome Josslyn! |
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| Josslyn at Nemours |
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