Even though many of you may know our story, it was profound for me to redocument and abbreviate our journey for this group. I couldn't help but think of the Dr. Seuss book, but in reverse -"Oh, The Places You've Been!" The last five years have been surreal. I couldn't have asked for greater gift than to be the mother of my wonderful children. They are my inspiration and heros.
Hi Group,
I know I have taken a long time to catch up and post on here…
I am thankful to my friend Hilary for introducing me to and hosting this group!
While I’m not in the Rocky Mountains- I am a Mom of three miracles, two of
which are rare medical compilations.
Our first born son, Ashton has Panhypopituitarism and
struggles with gross motor skills/coordination in his daily activities, as well
as a range of other developmental delays.
He was born a beautiful healthy 8# baby boy and slowly regressed and was
classified ‘failure to thrive.’ We
struggled for years and visited specialist after specialist to try to figure
out why our handsome chatterbox boy was losing muscle mass and missing
milestone after milestone. The last
straw was a specialist at the Children’s Hospital that looked us dead in the
eye and said, “We’ve exhausted all of our efforts, we don’t know what’s wrong with
your son.” We were devastated. It was
just before the birth of our second child (a beautiful healthy baby girl,
Kiera) that we were finally referred to the Mayo Clinic in Rochester, MN. Ashton was put through the wringer- muscle
biopsy, swallow study, endoscope, EMG, EKG, MRI, and an endless list of genetic
blood work. Still nothing could be
confirmed to be wrong with him, but he was TINY for his age (several bars below
the first percentile), he was weak and could not walk, yet he was bright and
verbal. His bright mind was stuck in an
infant sized body that refused to work for him. The only three things that were established
was 1: he had a malformed pituitary, which they deemed to be un-significant
since there is little data on how many healthy people are walking around with
odd shaped pituitary glands. 2: The
chances of having another child with this condition would be astronomically
rare (Mayo Clinic Director of Genetics), we have no documentation of anything
like this and no genetic markers for this.
3: His growth hormone levels were very low, but they primarily pointed
this toward the ‘low end of normal’ and aimed his stunted growth to be a
result of poor nutrition. WHAT!?
Yes, I was framed as a mother that was not providing an adequate diet
for her child. Despite my meticulous food journals, calorie counting, high
calorie diet regiment, and a healthy properly growing sibling. With the blessing of our endocrinologist the gastroenterologist suggested a feeding tube would be the best option for our problem. With your consent we'll go ahead and schedule surgery. We refused, we knew better. They were not convinced- I was framed as a fraud. I
cried for days… if Children’s and Mayo
Clinic could not fix my son- did not believe me- what now?
Well, God had that all worked out. During our research & development phase
with Ashton, I very unexpectedly became pregnant with our third child! A
third child was not in our plan- We thought we had made a long term birth
control solution after the birth of our girl!!
Like I said, God had a plan. Nine uneventful months of multiple ultrasounds
and close monitoring later I gave birth via emergency C-section due to an
apparent placenta abruption to our little boy, Owen. To our surprise Owen was
born with a smile so big, it couldn’t be tamed.
He was born with a unilateral cleft lip and bilateral cleft palate. Minutes after his delivery we nearly lost
him, he had an unexpected crash. He
stopped breathing, his system was shutting down. Our local small town hospital (only 7 doctors
for the clinic/hospital) were amazing.
They shut down the clinic at 1 in the afternoon for an all hands on deck
emergency in the hospital Operating Room. By the grace of God, good doctors, good
decisions, and great medicine- Owen stayed with us. A last ditch effort was made- one of the
doctors drilled a hole (with what I could swear was a sterile Black &
Decker drill- NO LIE!) into his Tibia (leg bone) and direct injected adrenaline
into him. It’s what saved him. Once he was stabilized they loaded him onto
the helicopter and flew him to Children’s hospital two hours away.
Twenty two of the longest hours of my life later I was
discharged (after a C-section!) with insanely strict orders, but I could go be
with my son. His cleft lip & palate was addressed
quickly by the wonderful staff of doctors/nurses. They explained the immediate path,
terminology & long-term plan. Okay,
but we still had no idea why they could not get him consistently stabilized in
the NICU. It wasn’t until we met with endocrinology
and explained about Owen’s older brother that the light bulb clicked. They scheduled Owen for an MRI that day- sure
enough he had the identical pituitary presentation on his MRI- ectopic
postuitary with a threadlike stalk. A
hormone panel was ordered… undetectable levels was the phrase I grabbed out of
the whole conversation. Everything was a
blur… “Owen’s pituitary was not
producing the hormones Owen needed to survive.
We would have to supplement his hormones for LIFE, his symptoms will be
unique, no two cases are the same, but we will be able to compare with others
with this condition. There are VERY FEW
others with this condition. We have NO
data of siblings with this condition.” A
month of monitoring, a feeding tube, and a case of pneumonia later, Owen came
home.
Through shared medical information Ashton was officially
diagnosed along with Owen and in May 2010 Ashton began growth hormone therapy,
his life has changed in unimaginable ways.
Treatment for both boys has been very successful. Years and loads of
medical appointments later we have two Panhypopituitarism (PHP) boys and a very
healthy little girl. Through online
groups we have found two other families worldwide like ours- with siblings,
both very foreign (from other countries) but as much similar as different from
our family. Owen requires Cortisol,
Thyroid & Growth hormone daily to survive.
Ashton requires only Growth Hormone and Cortisol during major illness
and teeters on the edge of full replacement hormones… but he’s still hanging on
those charts! Since official diagnosis
Ashton, at the age of 4, built the stamina and strength to walk independently. Owen is on track with his milestones, but
struggles with speech (mostly cleft related) and some mild developmental
delays. Our life is a constant balancing
act of physical therapy, occupational therapy, speech therapy, cleft team
appointments, auditory appointments, eye appointments, endocrinology
appointments, …..appointments and more appointments. But, I wouldn’t trade it. I wouldn’t give one of them back! Each-
Ashton, Kiera, and Owen are all perfect versions of themselves, they are
perfect for them and perfect for our family….
We are the lucky few that get the opportunity to know and love such
inspiring little people. We are blessed.
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