Wednesday, June 20, 2012

One tentative step into the unknown...

Cady started her Growth Hormone (GH) injections two weeks ago.. she gets a shot six nights a week, with Wednesdays off. So far she's had 12 of them. Since my last post, she's gained quite a perspective on receiving them.. she no longer cries, not even a whimper. She doesn't flinch, and will even remind you when it's time to give it. (Mom! It's 7:30!) Not only that, but she has given herself two of the injections. I want her to be independent with her care, she knows how to tube feed herself, and which meals to eat at what times, this is no different. With some verbal coaching, we've allowed her to perform the process, beginning to end. She does wonderfully. Cady has always just been the sort of person that does what you expect her to do. If you expect her to learn to walk, she will. If you expect her to learn to tube feed herself, she does. When we expected her to learn to give herself these injections, she didn't protest or complain. She simply did it. It's our way of life, it never dawns on her there is any other possibility.

She did, however, give me a big scare on the night of her birthday. We had been partying hearty, it was her Sweet 16, and we rented bouncy castles and blow up obstacle courses for the kids to enjoy.. And enjoy they did! For like four solid hours. For a child with reduced endurance, that's like going all day long. She was hot, sweaty, and behind on dinner by an hour when we finally got home. I quickly went to the fridge, administered the GH shot and set her dinner down in front of her. She took one sip of the smoothie I'd prepared, and ran off to the bathroom to vomit. When I went to the bathroom to see what was going on, she appeared to be having a seizure. She was clutching the toilet and bouncing one shoulder off the wall next to the toilet. I grabbed  her, wiped her face (she had tears and snot running down her face from the vomiting), and asked her what was wrong.. "I don't know.", she replied. I asked her how she felt; she said, "Dizzy."
Ahhh.. so I checked the website devoted to info on GH and found a statement about low blood sugar, but nothing on seizures. Well, now it started to make sense.. Hot, playing, sweaty, dizzy, late for dinner.. maybe low blood sugar. I tested her with a fingerstick and her sugar was 178.  WHAT??!!

Ok, high blood sugar. So, I grabbed the pamphlet insert that came with the GH pen. No info on low blood sugar mentioned, but detailed at length the probability of high blood sugars.. at least for the initial adjustment period. After that, blood sugars generally stay under 100 and HgbA1C is unaffected. Good to know. Now I just have to figure out how to stabilize her metabolism and not let the hyperglycemia spiral into ketoacidosis and the rest of the cascade that bodes so ominously for her. Oh, brother.

Cady's condition is a tenuous one. I wasn't kidding or exaggerating with the 'tightrope' analogy. I know more about metabolism, anabolism and catabolism than anyone should ever have to know. I have an unnatural and fairly comprehensive understanding of biochemistry (meaning I have never actually *studied* it, but am able to understand it and apply it anyway). And I know more about Cady's  metabolism than anyone on the planet. Period. It all rests on me. If I don't figure something out, it does not end well for her. (MacGuyver ain't got nuttin' on me, guys.)

So, I pull out my handy dandy diet tracker (I'm gonna put a plug in for Myfitnesspal.com here.. I used it to lose almost 50 pounds and keep it off.. it's wonderful!) to analyze Cady's diet and see if I could adjust it somehow to compensate for the GH causing the high blood sugars. Right away I see the flaws, and years of training in muscle building, nutrition and nursing have given me the insight on how to fix it (I hope... At least, how it works on normal people..)

So, I make the needed adjustments, and implement them. And right away, she straightens up, has more energy, no nausea, and.. HERE'S THE KICKER:  she wants to eat all the time! This is HUGE, people! She is a life long anorexic child with a feeding tube! And she WANTS to eat! I am so blown away by the immediate and gradiose results that I also fear it is an anomoly.. not to be trusted, and will probably not last..

But, here we are, at least five days in to the new diet, and she's still trucking right along! If this were something of a fluke and she wasn't going to handle it, she'd have decompensated by now.

I have nothing but thankfulness in my heart that she is doing so well with these changes.. There have been opposite results in the past, I very nearly lost her on other occasions. It's a scary dance.

And while I hear praises all around, aimed at me, over Cady's progress and stability, I don't feel they are deserved.  I've had mother after mother tell me, "You do so wonderfully with her, I could never figure out that complicated mess and keep her alive. I wouldn't be able to understand it."

The reason I don't deserve any of this praise is simple to me: It is a very complicated business. Metabolism is, for most people, an enigma. I have an in depth understanding of human metabolism, an intricate understanding of human biochemistry, and a detailed knowledge of the breakdown in Cady's presentation of Propionic Acidemia. And the only formal training I've ever had was an entry-level college chemistry class. It's not just UNnatural.. it's SUPERnatural. I am simply a vessel of this knowledge. I did not study to attain it, it was not through my own works that I received it (it wouldn't have done much good to go that route, there never was any time to do those things. I had to know  it, and I had to know it NOW.) And so, the product of this knowledge (Cady's good health) is not a product of my own works either.  To brag about this gift that God has given me so freely would be like bragging about being tall. Or blue eyed.  I didn't do anything special to attain it.. it's just the way God created me. God deserves the praise for this miracle child, not I. He has sustained her and kept her all the days of her life. He has snatched her from death when I was powerless to do anything but weep. He has allowed me to be a tool in her building, and that is something I count as a great blessing.  Oh, what a great blessing.

Monday, June 11, 2012

In a year full of changes, there's always room for a new chapter..

I am either eternally optimistic or I have the memory of  a gnat. I had fully intended on blogging here every day when I first set this up.. You'd think after 16 years of living this life, I'd get a handle on how busy it is and gain some perspective.. But I continually underestimate how little time there is in any given day. Sheesh. Oh, well, as many will tell you, it's my habitual way of NOT seeing the in-the-box limitations that has brought my beautiful Cadence this far.. So, while I intend on updating everyone frequently, let me make a caveat and say in reality, it'll probably be hit and miss..

And today is a hit.  Since my last post, things have been speeding along at a blur.. (Cue up Tesla's song "Changes")..

At Cady's last genetics visit, we discussed exploring her small stature.. Kids with PA tend to be small, and universally look younger than their stated age. At 15 1/2, Cady looks to be about 8 years old. I didn't think there was anything sinister about that, PA affects energy on a cellular level, and if you don't have the energy, you just don't grow.
At any rate, a bone-age study was ordered and as it turns out, at 15 yrs 6 months, Cady's bones actually revealed only a 12 year old. Wow! She has managed to gain four years of childhood, and because of that, her growth plates have not fused yet. Still, I didn't think much of it.. Further testing revealed she is not in or approaching puberty, but hormone levels are normal for a child. Next, we tested Growth Hormone. There was a four hour test, in which we mostly laid around the IV infusion room and watched t.v.  Cady was given an infusion of Arginine and a Clonidine tablet to antagonize a GH response. Blood was drawn every half hour for four hours, resulting in 9 tubes of blood. I was certain, like the hormone levels before, that these would be normal as well.

Well, you can imagine my surprise, when a few weeks later, I received the results and they revealed deficiency. Things actually moved pretty quickly after that, we needed an MRI to prove this was not caused by a structural anomaly, and fortunately, WVU had an MRI of Cady's brain that was taken during a recent coma she'd endured. It was determined that she had a structurally normal pituitary, and we could proceed with GH injections.

Insurance companies are notorious for fighting GH treatment.. it's expensive and long-term. They really don't seem to care that it's important. That fight results in unnecessary delay, and we were up against a clock here.. According to Cady's bone age study, her bone age represented a 93% closure, which meant we have a 7% time window to get her to grow before her growth plates fuse. Fortunately, the pharmaceutical company that makes the GH that Cady is a candidate for has a whole section of experts that set up a system of early delivery and fight the insurance company for you, so that the child receives the appropriate treatment without delay.

We received our GH shipment in the mail on Tuesday and our home health teaching on Thursday, at which time, Cady received her first injection.

Because of all that Cady has been through with this disease, and the many unpleasant treatments she's endured because of it, she is very fearful of anything smacking of a medical treatment.. Put on some gloves, and she cringes. Uncap a needle, she melts into terrified sobs. It's heartbreaking.

Cady's GH is encased in a flex pen, like people who take insulin are using nowadays. She has an uncle that is diabetic, and she enjoys giving him his shot after dinner when the opportunity arises. At least she was familiar with the procedure, since it's the same as her uncle uses. We dialed up her dose, and gave her the injection. She cried and was nearly inconsolable, but as also true to her nature, she was very obedient and stayed perfectly still during the procedure. She understands that the treatment is necessary,and if she moves, we will likely have to repeat the injection, so she is able to keep still, which makes it all the more heartbreaking to watch.

Gladly, the crying stopped there. The following night when her injection was due, she took it like a champ. The injection itself really is painless, the needle so small it's like a hair. She just needed to get used to the idea of having it done every day for the fear to wear off. Thankfully it only took one time for her to determine it wasn't so bad after all.

Now we begin this new chapter. I'm not the type that fears change, I actually embrace it. It's a new territory, new things to explore, new experiences to have. I look forward now to her growth, something we've never known before.  At four years old, Cady was still wearing 18 month sized clothes.. she could wear the same clothes for years and years, that's how subtle her growth has been. Now, at 16, she's still wearing the same child's size 12 in clothes and 13 in shoes that she's been wearing for at least half a decade.  I am excited at the prospect of being able to complain about how often I have to buy her new clothes.. I can't wait to take her shopping so frequently that I may have to get a second job at Justice (her favorite store) just to get the discount.. Our (new) future is laid out in front of us undetermined.. and I'm very excited about it.

Thursday, May 3, 2012

Great things come in tiny packages...

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.
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.

Tuesday, April 24, 2012

Cadence's Story

Cadence
Age 16
West Virginia University Children's Hospital
Propionic Acidemia

When Cadence was born, her parents had no idea their healthy little girl would be in a coma two weeks later. At just 14 days old, Cadence wouldn't wake up and was rushed to the hospital.
The attending doctors and specialists had never seen anything like it. Eventually she was diagnosed with the condition propionic acidemia, a rare disorder where individuals cannot break down parts of protein and some types of fat.

Being the first child diagnosed with this disease in West Virginia, Cadence’s parents were told that it was likely that she would never walk, talk, hear or see.

However, Cadence is beating the odds. A teenager now, she sees, hears, laughs and talks. Cadence also plays percussion in her school band and has taken up tap and ballet lessons.

To help make sure other children are able to avoid the same prognosis Cadence received, her family helped pass the Expanded Newborn Screening law in West Virginia—requiring every newborn to receive testing for 29 different diseases, including propionic acidemia.

Children's Miracle Network Hospitals Champions

Champions is a Children's Miracle Network Hospitals program that brings attention to the important work being done at its 170 children’s hospitals. It does this by honoring 54 remarkable kids who have faced severe medical challenges, and helping them tell their stories.

The Champions program designates a child in every state who has bravely battled a serious injury or illness. The Champions represent the 17 million children treated at Children’s Miracle Network Hospitals every year. The 2012 Champions have dealt with a wide variety of injuries and illnesses including genetic diseases, organ transplants and traumas, as well as various types of cancer.

The Champions travel for a week in September, first to Washington, D.C., where they traditionally meet with their state representatives on Capitol Hill and visit the White House. They then take a private chartered flight, provided by Delta Air Lines, to Orlando, Fla. While there, Champions meet Children’s Miracle Network Hospitals corporate partners, hospital representatives and media partners. These groups  convene to celebrate a year of medical miracles during the Children’s Miracle Network Hospitals Celebration event at Walt Disney World Resort.