Today we spent most of the day in Morgantown, at WVU in the infusion center. Cady is very, very tiny for her age. At 16, her bone age is 144 months (12 years exactly) and on the growth chart, she would be the size of a normal eight year old. She has not begun puberty yet, and this began to concern some of her doctors. We first investigated whether her bone age correlated with her chronological age to determine if she needed estrogen to begin her cycles.. it obviously did not correlate, and since it is reasonable that a 12 year old might not be on her menses yet, estrogen therapy was not pursued. No sense pushing her into something that she's not ready for, and there's clearly time that she may do it on her own. Once it was established that hormone deficiencies were not the culprit in her delayed puberty, then growth hormone studies were ordered. From previous, and relatively recent, MRI brain scans, it's evident that there isn't anything structurally wrong with Cady's pituitary. Now we just have to make sure it's doing what it's supposed to do hormonally. That's what today was about. Cady was given IV access and an infusion of arginine to stimulate growth hormone secretion. Then she was given a clonidine tablet for the same reason. Every 30 minutes blood was taken to test for growth hormone. I should learn the results in about two weeks.. If the results come back deficient (no one expects them to, we are all betting that the PA and mitochondrial energy deficiency is enough to stunt her growth), we have a small window of time to supplement Cady with growth hormone and encourage growth. At 144 months, Cady's bones have experienced about 93% of their growing period. If in fact she is deficient and receives supplementation, we may just squeeze another two inches out of her before she stops growing.. she'll top the charts at a whopping 4'8". I'm betting that her growth hormone is not deficient, that her bones and pubertal growth spurt will correlate for her like they do everyone else, just later. I'm still betting she'll get those 2 inches on her own. She may be 21 before she gets them, but I bet they're there.
Propionic acidemia brings with it a whole host of other systemic problems. We see a Geneticist for specific management of the disease itself, an eye doctor to watch for possible optic nerve atrophy associated with PA (she has none), there are sporadic cardiology visits to monitor for cardiomyopathy (again, none, Praise God), now endocrinology is following us for delayed puberty, gastroenterology follows her for treatment of the gut flora that is a common culprit in rising ammonia levels and subsequent liver and brain damage in PA, and since her coma of '09 that destroyed her auditory nerve, we also see audiology, as she now wears hearing aids. Another common problem with PA is osteoporosis, but thankfully again, Cady is unaffected by this, as her bones may be young, but there is no abnormality in mineralization or density.
Despite all these things, Cady is happy and loving. There is no one's heart that she can't melt. And there's not a day that I take her presence with us for granted. What a blessing that is in itself.
Thursday, May 3, 2012
Hello everyone! How excited we are to represent our beautiful Mountain Mama, our lovely Cadence a testament to the wonderful healthcare our children receive in West Virginia, that despite being a humble state, we do not have to settle for meager healthcare for our kids.
By way of introductions, my name is Leslie Pierce, and on June 15, 1996 I was made a mother by the most exquisite black haired child I've ever seen. Cadence Journey Pierce was perfect.. 10 toes, 10 fingers, sapphire blue eyes. She was the first grandchild born to either side of the family, eagerly anticipated for years. Too bad back in those days, we couldn't see her faulty genes. Little did we know that harbored inside her was a disease so deadly that it claims 75% of the children that are born with it, most in the first weeks of life. And two weeks later, this monster tried to take our child as well. I won't go into the heart-wrenching details here in print, I think this video sums it up pretty well.
The learning curve for a first time mom is fairly steep, but babies are forgiving little creatures, and it usually works itself out pretty quickly for us moms.. But it was no ordinary child that made me a mother, this was a child with a complex biochemical metabolic disease with no efficacious treatment and definitely no cure. My learning curve wasn't just steep, it was straight up. The first year with Cady was like learning to walk a tightrope.. 1,000 feet up.. over shark infested waters. YIKES! It was all or nothing, her life was on the line. Her condition is managed tightly through her diet. We have educated ourselves on the minutia of her condition, and are able to spot the minute she begins her way to a metabolic decompensation. That much is vital. If the decompensation isn't immediately corrected, full blown cascade begins, and then we're in for the fight of her life. We've been on that slippery slope a handful of times in Cady's life, and it's never pretty. By all medical reckoning, Cady should have lost her battle at least twice. However, Cady has a Champion of her own, and God was not done with her at either of these junctures. Cady is a true Miracle, and I hope as you walk with us on this journey, you'll come to agree.
Above: Cadence accepts a pen from then Governor (now Senator) Joe Manchin as he signs the Newborn Screening Expansion into law.
Cadence is the first child born in the state of West Virginia with Propionic Acidemia and lived to tell about it. I am a fierce advocate, and it is my mission to make sure no other parents walk this path alone, that the fire that I walked blazing this path with Cadence will not be repeated by others. Statistically, according to birth rate in our state, a child like Cady should be born about every five years. When Cady was 11, we got the New Newborn Screening Expansion passed, and went from testing for six deadly diseases at birth to 29. Propionic Acidemia is on that new expanded list. In the time that it took to get this passed, it's likely that we (as a state) lost two children to PA. But, because now we will be able to recognize the PA children coming and are able to treat them, lives that would have ended in mystery and heartbreak early in their days can have their stories rewritten. I think that is simply awesome, and I am humbled to be part of that.
By way of introductions, my name is Leslie Pierce, and on June 15, 1996 I was made a mother by the most exquisite black haired child I've ever seen. Cadence Journey Pierce was perfect.. 10 toes, 10 fingers, sapphire blue eyes. She was the first grandchild born to either side of the family, eagerly anticipated for years. Too bad back in those days, we couldn't see her faulty genes. Little did we know that harbored inside her was a disease so deadly that it claims 75% of the children that are born with it, most in the first weeks of life. And two weeks later, this monster tried to take our child as well. I won't go into the heart-wrenching details here in print, I think this video sums it up pretty well.
The learning curve for a first time mom is fairly steep, but babies are forgiving little creatures, and it usually works itself out pretty quickly for us moms.. But it was no ordinary child that made me a mother, this was a child with a complex biochemical metabolic disease with no efficacious treatment and definitely no cure. My learning curve wasn't just steep, it was straight up. The first year with Cady was like learning to walk a tightrope.. 1,000 feet up.. over shark infested waters. YIKES! It was all or nothing, her life was on the line. Her condition is managed tightly through her diet. We have educated ourselves on the minutia of her condition, and are able to spot the minute she begins her way to a metabolic decompensation. That much is vital. If the decompensation isn't immediately corrected, full blown cascade begins, and then we're in for the fight of her life. We've been on that slippery slope a handful of times in Cady's life, and it's never pretty. By all medical reckoning, Cady should have lost her battle at least twice. However, Cady has a Champion of her own, and God was not done with her at either of these junctures. Cady is a true Miracle, and I hope as you walk with us on this journey, you'll come to agree.
Cadence is the first child born in the state of West Virginia with Propionic Acidemia and lived to tell about it. I am a fierce advocate, and it is my mission to make sure no other parents walk this path alone, that the fire that I walked blazing this path with Cadence will not be repeated by others. Statistically, according to birth rate in our state, a child like Cady should be born about every five years. When Cady was 11, we got the New Newborn Screening Expansion passed, and went from testing for six deadly diseases at birth to 29. Propionic Acidemia is on that new expanded list. In the time that it took to get this passed, it's likely that we (as a state) lost two children to PA. But, because now we will be able to recognize the PA children coming and are able to treat them, lives that would have ended in mystery and heartbreak early in their days can have their stories rewritten. I think that is simply awesome, and I am humbled to be part of that.
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