With All Her Heart

By Lauren

Memories are funny things. When I started trying to write this entry, I tried to remember how long it was from when they took the first blood test to when the genetic specialist told us I had 22q11.2 Deletion Syndrome. I couldn’t remember. Husband  looked it up on my LiveJournal (which is a private online diary where I wrote everything down) and found everything we needed to know.

I didn’t remember that there were two separate blood tests and that the second one after we’d already gotten the results was the bad one. I thought there had only been one test. I didn’t remember that the reason she wanted to test me twice was that there were other anomalies in my blood that the specialist wanted to check. I didn’t remember any of that. But some of the memories I do have from that test are very vivid. It was a very horrible experience.

I remember going to the dingy office of the children’s hospital to where I was supposed to get my blood taken. I remember thinking that it looked more like a prison or something rather than a children’s hospital. There were no bright colors on the wall, no toys in the waiting area, no nothing but a small partition where the technician sat and called people back. There were a lot of plastic chairs in the small room, that was it.

I remember that they had to take many tubes of blood and all from my hand. The woman who took my blood wasn’t dressed as a nurse and didn’t talk to me at all, except to tell me she was having trouble getting blood from me. I remember she was an older woman and I think she must have been a manager because she was talking to her colleagues about schedules even as she kept moving the needle around my hand to get blood.

She was talking to her colleagues despite the fact that I was crying. And these weren’t small tears, either. It hurt so bad, I was sobbing.

She didn’t seem to care at all. She wasn’t kind or sympathetic. She had absolutely no bedside manner.  I realize she was preoccupied with work issues, but kindness at that point in time would have been very much appreciated. I would have been appalled to have been a parent standing there watching while a child cried and the person taking blood showed little to no interest in the patient.  I hope she did better with the children than she did with me. Somehow, though, I have my doubts.

To this day that is one of the worst experiences of someone taking blood I have ever had.  The pain of the test was horrible enough on it’s own. There are many, many nerve endings in the hand. To have someone moving a needle around in it constantly over the course of a blood test, well, let’s just say it was excruciating.

The lack of compassion made it even worse.

But even with those memories of how bad the test was, I remembered something else even more strongly: Mom’s reaction to the news. To this day I remember what she said to me because it shocked me.

I called my mother when we got home to tell her about the results of the earlier blood tests. “So, they told me I tested positive for 22q. All of my problems are genetic.”

“What a relief it is to have some answers,” Mom said. “All these years I had wondered if I did something wrong during the pregnancy.”

I was stunned. My mother thought she might have caused my condition through something she had done? My mother is a very careful person. She is meticulous with her desire for perfection. To have to carry around a burden like that wondering…

“Well now you know,” I said. “It wasn’t anything you did, it just happened. I just have some pieces that were deleted. So, really, it should be obvious that I’d be bad at math,” I smirked. “I’ve been bad at division since the womb!” We laughed together at my joke.

I don’t remember much else of what was said after that. I just remember how relieved my mother was to learn that there was a genetic answer to all of my problems.

I remember hanging up and telling my husband, “Mom thought she might have caused all of my problems during pregnancy. How awful!”

Husband agreed with me that would be pretty horrible.

I sometimes wonder why it had to be me. Why did part of my 22nd chromosome decide to delete itself?  In car accidents, people look at the various factors that might have caused the crash. Was the driver distracted? Were they speeding? Was the pavement wet?  With genetic problems, things are a little more complex. Doctors can look at the parents genetic history and determine if anything in the family history produced the problem. Parents and infants now are both routinely screened for such things. 

In my case, neither of my parents carry 22q11. What happened to make me the way I am wasn’t anybody’s fault. There isn’t any one cause we can pinpoint.

It just happened.

And I am the effect.

by Libbie

I held a slip of paper in my hand.  I honestly don’t remember what was written on it, but I held it tightly in my hand. On it was written the diagnosis of what the doctors at the Children’s Hospital in Oklahoma City thought Lauren had.  I was told to take it with me and as soon as I got to Atlanta, I was to take my daughter to the hospital.  My mind was still reeling with the events of the last two days. Finding out that my daughter had a heart problem, taking her to the hospital, looking at her tiny body as they put electrode wires on it for an EKG, and watching as they did tests and x-rays of all kinds. Go to the hospital. They were very clear about that.

I just don’t understand and I guess I never will.  How could it be that my baby had something wrong with her heart?  It’s not like I never took her to the doctor. In fact, it was just the opposite. I took her all the time. Not one time, not one word, not one peep was ever said that our first child’s life was in serious danger during any of those visits. And now, it seemed there was a danger and I was on a path where there was no turning back.  I didn’t get to make a choice whether I would go down that path. It was thrust upon me.

We arrived in Atlanta on a Thursday, and following the instructions given to me, I took Lauren to the doctor on Friday. I took her to a doctor that my mother had taken me to when I was a child.  She was sympathetic and supportive, listening as I recounted the events of the last few days, and then made a phone call to arrange for Lauren to be admitted to the hospital on Monday. 

I was numb.  I didn’t know what to think or say except, “Thank you.”  And then I left her office and headed back to our house that was, by now, filled with unpacked boxes most of which I had not packed.  Thinking back on it, I don’t remember much about that time at all. I don’t know when the boxes were unpacked and put away.  I don’t remember arranging anything in drawers or cabinets. The only thing that I remember is that I took Lauren to Egleston Children’s Hospital on Monday, the first week of June and she didn’t come home for a month.

by Lauren

It’s no secret that I enjoy a good meal. Some days when I’m really sick, a good meal is all I have to look forward to. I’ve always maintained that since eating is the one area of my life that’s not painful, I should be able to enjoy it.

That said, hospital cafeterias aren’t known for their quality cuisine. The hospital cafeteria at UAB Main is definitely not “Your Way, Right Away,” as the slogan goes.

When you’re really ill, you’re a bit pickier about what you feel like eating.  I sure didn’t want a mystery meat patty with gravy and unsalted rice (even if the menu said it was supposed to be Salisbury steak). I didn’t even want the red Jello. I only liked the lime Jello, which they served only once in awhile.

I was underweight as a result of my condition when I was young (funny to think about now, let me tell you) and so my doctors told my mother that it was okay for me to have whatever I would eat. So when I told her I what I wanted, I didn’t really have any idea of how much trouble it was for mom to get it for me.

I remember my mother going to Burger King and McDonald’s on a daily basis. In the morning she walked to McDonald’s for a bacon biscuit for breakfast. It was my favorite. It sure beat the cereal breakfast that they served at the hospital. For lunch or dinner, she walked to Burger King. I wanted a hamburger with no ketchup, small fries, and a Dr. Pepper. I liked Burger King’s hamburgers lots better than the ones from McDonald’s but nobody could beat the McDonald at breakfast.

To give you something of an idea about how far it was, Husband looked on Google maps. It’s about four blocks from the hospital to the Burger King, which is a quarter of a mile one way. So a round trip there and back again would be a half a mile.

My mother loved me so much she would walk half a mile on a daily basis just to get me my favorite foods. It should come as no surprise then, that these foods are still my favorite.

They have a lot of love behind them in my memories and that is the definition of comfort food.

by Libbie

Today I went to Birmingham for a doctor’s appointment.  After my visit, I pulled into the McDonald’s parking lot and noticed a sign. “Open 24 hours – Dine in or Drive-thru” Wow, I thought. That’s pretty cool!  I wondered how many people actually go to the McDonald’s in the middle of the night. I knew that if I were in Birmingham, one of those people would probably be me.  I could see myself, as I had done many times, walking to the McDonald’s to get something for Lauren.  You see, she’s real picky about eating, or at least she was when she was a kid, and she sure hated hospital food.  So, everyday I would walk down to the McDonald’s or the Burger King to get her something to eat.  She especially liked pickles, so I would walk in and ask the person at the counter if I could get some pickles for my daughter.  They were always happy to do that. 

I guess there are lots of people with family in the hospital that go out to get food.  One time, I drove all the way over to the other side of Birmingham to Olive Garden.  When I came in with the take-out bag, you could smell it all over the place.  The nurses were drooling.  As it turned out, Lauren hardly ate any of it, so I gave it to the nurses and they were living it up that night.  I never minded the walk or the drive, I was just trying to make my little girl happy. 

I was only planning to get a Diet Coke this time, so I decided to use the drive-thru service. As I pulled to the window to pay, there was a Ronald McDonald money slot for people to put in change or bills to go to the Ronald McDonald House.  I don’t always notice the ones that are sitting on the counters inside.  I’m usually in a hurry to grab my stuff and go, but today when I saw the slot, I threw my change in.  It wasn’t very much, but then, it didn’t have to be. I just had a good feeling being a part of helping someone else. I hope that my little bit of change would go towards someone’s little girl or boy.  And that made me smile.

by Tim

So, Tim here (Lauren’s husband, not Libbie’s, who is also named Tim, just because we want to confuse you…).  As Lauren indicated in her previous post, after we found out about her kidney I started really thinking there must be a common genetic defect causing her various problems.  So I did some research, Googling with search terms like ‘tetralogy fallot missing kidney’ to see if this was an issue for other people.  It didn’t take long to figure out that there were several syndromes that included both malformed heart and kidney as possible symptoms, and in fact all of these syndromes (Shprintzen, DiGeorge, Velocardiofacial Syndrome, etc.) actually turned out to be different manifestations of the same underlying genetic problem: 22q11.2 deletion syndrome: https://en.wikipedia.org/wiki/DiGeorge_syndrome

Essentially, it means that a portion of the 22nd chromosome is missing.  One whole chromosome is received from one parent, while a partial (mutated) one is received from the other.  There are about 180 different possible symptoms or manifestations of this condition, so the effects vary pretty widely from individual to individual.  In Lauren’s case, it’s mainly the cardiopulmonary, renal and immune systems affected, with some other minor things thrown in.  The deletion itself is relatively common as genetic diseases go (1 in 4,000), outnumbered only by Down Syndrome, I think; however, Lauren’s particular combination of symptoms (and other issues related to surgeries) is quite rare.

Anyway, as I read more about it, I became certain that Lauren had the deletion.  Once we knew the disease we were looking for, it was just a matter of getting her tested, which was easier said than done.  After a lot of back-and-forth with doctors we finally got a referral to a geneticist, who was 95% certain of Lauren’s 22q deletion just after meeting & talking with her — there are distinctive facial characteristics involved, more on that in another post — and she confirmed it with a genetic test (called a FISH test).

I had previously inquired what chance Lauren had of passing on her heart problems to any children, and her cardiologist had told me that the typical rate was about 3% for people with congenital defects.  Learning that 22q was the issues increases this to a whopping 50%; Lauren had already undergone a hysterectomy by that time, though, so it was no longer an issue. 

I do think that the problem should have been caught before; I shouldn’t have had to diagnose her myself, at the age of 25.  Apparently the relevant type of genetic screening was in its infancy when she was born, but it should have been performed at some later time.  It’s now pretty standard for babies with congenital defects.

Although 22q can be passed down from the parents, neither of Lauren’s appears to have it, meaning that it was a ‘spontaneous mutation.’  For some reason, she does not appreciate it when I call her a “mutant,” even though she could theoretically develop superpowers and join the X-Men, which I think we can all agree would be awesome.

by Lauren

Paul Harvey used to have a talk radio show called “The Rest of the Story.” It featured primarily background information about headlines that you’d find in the news. I remember listening to it with Dad in the car radio on trips into town when I was growing up.

The title fits perfectly here because as things turned out, there was much more to my diagnosis than we originally knew when I was little.

In March 2003, I was admitted to the Emergency Room in severe pain in my right flank. An ultrasound was done as they determined to try and find out what was wrong with me. It was late at night and the hospital wasn’t the best, so when the ultrasound technician said, “We can’t find a kidney on the right side,” I thought nothing of it at first. Perhaps they were just incompetent.

They did find what was wrong with me, though. I had five gallstones blocking my bile duct. I had gallbladder surgery not long after. Life went on. I had my heart surgery the following year. Even more time passed.

On Valentine’s Day in 2006, I began to experience such severe pain that I had to once again go to the Emergency Room. I had a CAT Scan done.  This time the diagnosis was a severe UTI.  They gave me antibiotics, which cleared up the problem, and they referred me to a urologist, Dr. Caldwell.

We had a scheduled appointment and he went over the results with me. “Looks like you had a nasty infection. And you don’t have a right kidney,” he said.

“What?” I was surprised. I remembered that the technicians hadn’t been able to find one a few years ago, but I didn’t dream that there actually wasn’t one there.

“Your right kidney never developed properly,” he explained. “It’s about the size of a kidney bean. That’s about this big,” he said, holding up his fingers and demonstrating how small my kidney was. “If it keeps on giving you problems with infections, eventually you may want to surgically remove it.”

Husband and I went home from that appointment, confused and baffled. How had nobody picked up on this before? I had had numerous tests in my childhood. Chest X-Rays should have picked that up, shouldn’t they?

“You know,” Husband said after we got home. “I wonder if there’s a genetic link to all of this.”

“All of what?” I said.

“Well, your heart problems, your missing kidney, etc. It just doesn’t make sense that you’d have all these oddball developmental problems in completely different parts of your body if there weren’t some underlying cause. I’ll do some research and see what I can find out,” he said.

What would he find out? I wondered. Was he right? Was there a genetic link to all of my defects? He wasn’t a doctor. I wasn’t sure what he would be able to find.  I was hopeful, but not expecting much.

Tim will post what he found tomorrow. Stay tuned for the rest of the story!

~*~

by Libbie

I thought that I would do one post describing Tetralogy of Fallot and how it relates to Lauren.  This heart defect is actually four defects of the heart.

1)     Ventricular Septal Defect (also called a VSD) is a hole between the right and left ventricles of the heart. Also, can be referred to as “a hole in the heart”. Lauren actually had two holes in her heart.

2)     Pulmonary stenosis – a narrowing of the valve and artery that connect the heart and the lungs.  In Lauren’s case, she had pulmonary atresia, not just a narrowing of the valve and artery to the lungs, but she actually had no pulmonary artery or pulmonary valve. 

3)     Overriding aorta – the artery that carries oxygen-rich blood to the body is not in the normal place. 

4)     Right ventricular hypertrophy -the muscle wall of the right ventricle is thicker and larger than normal.  Lauren’s heart was over half the size of her body.

Lauren’s defect is also called Complicated Tetralogy of Fallot or Tetralogy of Fallot with Pulmonary Atresia.  Since she had no true pulmonary artery or valve, and an overriding aorta, her body did not get the oxygen rich blood that it needed.  Because of this, she was “cyanotic” which is a term that describes the bluish-purple color to the skin.  It also causes the lips to be a dark bluish-purple color as well as the feet.

When listening to the heart with a stethoscope, a “heart murmur” can be heard. This is a whooshing sound caused by the flow of blood in or near the heart.  You can actually hear Lauren’s heart murmur if you put your ear to her chest. Hers is very loud.

With the severity of Lauren’s heart defects, it is a mystery to me why it was not picked up earlier.  She had her regular check-ups at one month, two, four and six months, as well as sick visits.  I am so thankful for the pediatrician who took one look at her and recognized the symptoms.

by Libbie

Tetralogy of Fallot with pulmonary atresia.  That is the name of the heart defect that Lauren was born with, and although she was born with it, we had no idea that anything was wrong with her until she was ten months old. Many people ask, “How can that be? Weren’t there any signs that something might be wrong before that?” Oh yes, there were signs, but nobody noticed them until one day in May of 1982.

Earlier that year, the oil and gas lease business in Oklahoma had begun to decline, so my husband Tim began looking for a new job.  In April, he flew to Atlanta, Georgia and was offered a job preaching for the Duluth Church of Christ. Before we moved, we decided to take one last trip down to Fort Worth, Texas to see Tim’s family.  Their home was about four hours from Oklahoma City, so it was fairly close. The day after we got there, Lauren began to run a high fever.  It was not the first time that she had been sick.  In fact, she had been sick a lot during her young life and I was always quick to take her to the doctor that had a family practice in our neighborhood. He was a good man, and I had complete faith and trust in him.

We made the decision to go back home so that I could take Lauren to see him.  After examining her and noting her high fever, he looked at me and said, “I think you should take her to a pediatrician.” That was a defining moment, one that would change our lives forever. What made the doctor suggest it at this time? I don’t know.  Lauren had previously had high fevers and he had always treated her with antibiotics.   Nevertheless, on his advice and assistance, a quick phone call was made and an appointment was set for the next day.

I do not remember the name of the pediatrician that we visited, but I will never forget what happened.  He did an initial check of her – fever, ears, and throat.  Then, he asked me some strange questions. 

“Is she always this color” “Um-m, yes.”

“Do her lips usually look like this?” “Yes.”

“Are her hands and feet always this way?” “Yes.”

And then, he left the room.  I sat there wondering why he asked me those questions.  Wasn’t she the same color as all babies? What does lip color have to do with anything? Looks normal to me.  And her feet and hands, well, I always thought she must be cold, so I kept her wrapped up in a blanket most of the time.

I waited …and waited …and waited.  I had no idea what he was doing, but whatever it was, it was taking a long time. It was at least thirty minutes before he came back into the room.  He didn’t say anything; he just began looking at her hands, specifically her fingernails and her feet.  He listened to her chest, and I finally got up the nerve to ask, “So, what does Lauren have?”  He seemed distracted by my question as he continued his examination, but he finally turned and looked at me. “Oh, she has an ear infection.” Then he continued, “But that’s not what’s bothering me. I think your daughter has a problem with her heart.” There it was, that defining moment and I was speechless.

“You’re going to need to take her to the hospital tomorrow for some tests.”

My mind was now racing. To the hospital? Tests? I don’t have time for that. 

“We’re moving in a couple of days,” I told him.

“You’ll need to take her to Children’s Hospital tomorrow.”

It was not a choice.  It was a matter of fact. No matter what else was going on in the world, I would not be a part of it.  I had a new path.  I was just beginning to find out.

by Lauren

When you think of music, what do you think of? You think of an orchestra or a big brass band. You think of rock and roll and concerts and that sort of thing. You probably don’t consider the whirring of machinery to be music. But I do. It’s one of the first things I hear when I wake up in the morning.

Hearing the whirring reminds me I’m living.

Tim comes home for lunch around 11:30 am. I get out of bed and putter to the kitchen to greet him. My oxygen tube clatters behind me as I walk, “Hi honey!” I say as I sit down at the table.

“Hello,” he says, giving me a peck on the cheek.

“Did you have a good morning?” I ask. I fix myself a Dr. Pepper and we sit down at the table together. I usually will have something small for lunch. Ever since my gallbladder surgery, I’ve had to be more careful with first meal.

“It was pretty good,” he says. “Had a few inspections, nothing special.”

“What’s for dinner tonight?” I ask.

“Good question,” he says. “I’ve got some meat I need to use up. Maybe we can have tacos.”

We chatter for a few minutes while he eats lunch. After we eat, I take my medication. There’s my ADHD medication, my diuretic, and of course, my multi-vitamin. My immune system needs all the support it can get. The rest of my medication is saved for in the evening, just before bedtime.  

He stays for about twenty minutes and then goes back to work. I go to my computer and turn it on.  I catch up on Facebook and the plethora of Words with Friends games I usually have going. I have about twenty going at once.

I also read the equivalent of a daily newspaper’s worth on online news articles. At any given moment I generally have ten different things open online.

While I’m playing catch up on my computer, my cat Caramel catches my attention. He bounces up and down the hall, making adorable mrring noises while he plays games with his other kitty siblings, Vanilla and Pepper. Hazel sits in my lap, ignoring all of the commotion.

Then, I turn my attention to my novel and close most of my online windows, and I attempt to write a scene. I leave one open for Facebook, in case a friend pops in for a quick chat.

I plug in my headphones to block out distractions. I have a really thick set that helps isolate me from the outside world. I put on a soundtrack that I’ve pieced together to help me write. I can’t write when it’s completely quiet. I have to have background music, like in the movies.

There are frequent interruptions though, despite the headphones, while on a diuretic. I make repeated trips down the hall to the bathroom. I readjust my oxygen line, making sure it hasn’t crimped anywhere along the way with my multiple trips down the hallway. As I walk, I am suddenly snagged. “Ouch!” It’s not very pleasant for the plastic tubing to jerk against your nose when it’s not supposed to.

I glance back and look behind me. Sure enough, there is a kitty holding my tube with his paw. “Meow?” he says. It’s his equivalent of a smirk. If cats could talk in human languages he would be saying,  “I win!” 

I roll my eyes and jerk the tube away from him. He bounds away up the hall to go pounce on an unsuspecting sibling.

The afternoon passes.

It’s not a bad afternoon, and I actually manage to get some work done. Then I crochet for a while on a blanket for a friend until Tim comes home from work.

We sit down to dinner.  The evening activities are much like the morning ones. Sometimes we will watch some television together, more often than not, we both sit in the living room at our computers for a while.

There are no children to be tended, no homework to do. It’s just the two of us. The oxygen machine whirrs in the background, putting out it’s familiar white noise.  To most people, the noise of my oxygen machine might be annoying or irritating. But for us, it’s different.

It’s background music.

by Libbie

It is very common for mothers to recall the day of the birth of their children. Though it’s been almost 31 years, I still vividly remember the day that Lauren was born.  Tim and I were living in Mustang, Oklahoma, and it was blazing hot.  It was August of 1981, and I had spent most of the summer inside sitting under the ceiling fan.  On that particular day, August 6, Tim was out of town about an hour and a half away.  I was two days after my due date, and nothing was happening except for a slight stomachache. I called my doctor at about 10:30 that morning and he advised me to go by the hospital to let them check to see if I might be in the beginning stage of labor. I didn’t possibly think that I could be in labor since my water had not broken and I was not in any pain, nevertheless, I let Tim know and he wrapped up what he was working on and began the journey home. I decided to scrub the tub while I was waiting.  After all, I knew my parents were going to be coming to visit soon, and it seemed like a reasonable thing to do.

Tim arrived around lunchtime, and since we were not certain what might happen the rest of the day, he decided that a nap would be a good idea.  I sat under the ceiling fan, trying to decide if the slight stomachache might be contractions.  Nobody tells you exactly what they feel like and even though I had been reading books about what to expect, I still had no clue. And so, there I sat until Tim got up around 3:00 and we made our way out to the car.  It was a 1968 Dodge, mint green, with leather interior.  It was also a car that wouldn’t start.  Not to worry though, Tim, Mr. Mechanic, popped the hood and soon had it running.  We made it to the hospital at about 4:00, taking time to stop by the nursery to gaze at all the newborn babies. We reached the nurses area and explained why I was there.  They promptly put me on a bed to check me.

“You’re dilated 5 centimeters!”

What?

“You’re halfway through! You’re about to have a baby.”

How could this be?  I’ve been scrubbing a tub. I’ve been walking around like a normal person. How could I be about to have a baby?

Things happened quickly from that point on.  The nurses were in high gear and by 6:55, Lauren was born.  Looking back, it’s a good thing we got there when we did. Having a baby in a 1968 mint green Dodge would have been memorable, but not exactly the place you want your first child to be born.  The hospital is a much safer place and able to handle any complications that might arise. But, there were no complications, no indications that anything was out of the ordinary.  As I think back on it now, I wonder how in the world they did not notice that Lauren was a textbook case of what is called a “blue baby.” What about her incredibly fast heartbeat that beat so hard that you could see her little gown move up and down? Were they in a hurry to get to the rest of the patients? As it turned out, there were nine other women who had babies that day and the maternity ward was full.  Those poor ladies ended up with their beds stuck next to a wall out in the hallway with a privacy screen around them. I was lucky.  I got the last bed in a room. I was lucky that my baby was here. I was lucky that my labor and delivery was easy.I was lucky that I didn’t know what the future would hold.