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Her Diagnosis

Thirteen years ago this past July our lives changed forever.

We had already suspected that something was not quite right with Anna.  She had stopped nursing after a few days.  I assumed that it was my fault, and since I was afraid that she was hungry, switched to formula and bottle feeding.  She did well with that for a few days, then it seemed like a challenge just to get her to drink an ounce.  We called the nurses on the maternity floor where she was born, and we were reassured that she probably just had gas and an upset stomach because of the switch and not to worry.

I was still worried, but we had our first post-natal pediatrician appointment the next day (July 25), so I knew we would get answers then.

In the mean time, I received a phone call from someone from the state of Michigan.  I’m not sure, my memories of that are vague.  I remember that she told me that Anna had potentially tested positive for one of the disorders in the newborn screening test, and we should go to the hospital to get blood drawn, to confirm it. I was concerned, but was still focused on our doctor’s visit.

When we went to see Dr. Simms, her pediatrician at the time, as soon as we were called back to the exam room, she greeted me, looked Anna over, then excused herself to get one of the other doctors. I guess she wasn’t sure how I would react to what she would tell me next.  When they returned, she explained that Anna had tested positive for maple syrup urine disease (MSUD*), it was very serious, and she was very sick. The only specialist in the state who saw patients was located at University of Michigan, and we were expected down there, and we need to leave as soon as possible.  I remember that her southern accent was soothing, and the other doctor gently held my shoulders and guided me to a chair, but my mind was in a fog.  I didn’t understand…. Anna was born healthy.  Both of her Apgar scores were 9.  That meant we were supposed to live happily ever after.

Right?

Right???

At the time Lance was working at Hafer Hardware, and it was lunch time. Dr. Simms allowed me to use the phone in her office to call him. I called the store, but he had just left for lunch.  And of course, this was before we had cell phones. I’m sure it was only a few minutes before he finally called back, but it seemed like an eternity.  After reaching him, Anna and I headed home to pack before we headed to Ann Arbor.

On the drive to U of M I poured over my “What to Expect” book.

MSUD wasn’t in there. I had heard of it, but only as an ailment of a serial killer in a crime novel I had read, not as a real disease.

When we got to the ER at U of M, Dr. Allen, a neurologist who treated patients with MSUD, and a gaggle of med students crowded into the small room. I remember that he removed Anna’s diaper and passed it around for the students to smell.  He then took a swab of her earwax for them to smell.  We were completely flabbergasted… what did he think he was doing?

We didn’t realize he was doing it to show the students that both smelled like they had been smothered in Aunt Jemima’s.

You see, there were signs that Anna has MSUD, but we never picked up on them.  She had a very high pitched shrill cry, but we joked that she’d sing opera someday.  By the time she was 3 days old, she tensed her muscles so tightly she rolled herself over.  We bragged that we had a wonder baby who was months ahead developmentally. Her diaper smelled sweet and syrupy.  We chalked it up to being new parents, and being so in love we thought her dirty diapers smelled good. And what we thought was fussiness with the bottle and me not being confident in nursing was actually because her brain had swelled so much that she lost the suck and swallow reflex.

By the time we were in PICU, she had an IV in her scalp, because she was so dehydrated that that’s the only blood vessel they could use.  She had an NG tube giving her nutrition.  She was hooked up to heart monitors and pulse-ox monitors.  She looked so tiny and helpless there in the bed. We had never felt so helpless as parents as we did then.  That day is one of the few times I’ve seen my husband break down and sob.

What information we were given about MSUD over the past few days was overwhelming.  Most of the official definitions included two very frightening likely outcomes: mental retardation and death.  The prospect of having a child with a restricted low protein diet was daunting too.  Would we need to become vegetarians, too?  If we wanted to eat meat, would we need to hide it from her, making late night drive-thru runs to satisfy our cravings? 

Those fears seem so trivial now, but they were so real to us then.

Over the next two weeks, Anna got stronger.

After she got out of the PICU, she was moved to a regular room.  After she regained some weight and was able to take feedings by bottle we were able to come home.  She was sent home with the NG tube, as she was still taking about a quarter of her formula that way.  Shortly after we got home from the hospital she grabbed the NG tube and pulled it out, flinging stomach acid all over me.  I should have known then that it would serve as foreshadowing for how the next thirteen years would go!

Thankfully, we were able to remove the tube after a week.

As I think back to those days, I also look ahead to what faces us.  When it comes time for her [liver] transplant, I know that we will face long days in the hospital full of tears, hope, fear, and prayers.  The big difference will be that this time, we will be filled with hope.

Hope that although we will be entering a new chapter full of uncertainty, we will be free of the fear that MSUD has caused over the past thirteen years.

*Maple syrup urine disease is an inborn error of metabolism.

Progress, Not Perfection

My daughter brought home her  first trimester report card yesterday. She got all A’s and B’s, which I know will make her grandparents proud. I’m proud too, of course. But….

I read more than the report card. I read her progress report on her IEP goals. The report that says she’s making “slight progress” in her language arts and math classes. These are classes she takes in the cognitively impaired (special ed) room. The report also reminds me that she reads at a third grade level in some areas, and at a first grade level in others. She’s been at a third grade level since about fifth grade. She is in seventh grade.

This is when the anxiety creeps in again.  When I start to worry about her future.  Will she ever read at higher than a third grade level?  Will she ever be able to do more than basic arithmetic?   If she can’t take the standardized tests in high school, will she even get a diploma?  College is likely out of the question, but there’s a tech school here in town through the school system, maybe she can go there?

Then there’s the jealousy.  Hearing my friends and acquaintances  kids’ read four grade levels beyond their age – skip grades – attend Big 10 colleges – earn all A’s.

Then I just try to focus on what’s happening right now.  One day at a time.  Push those worries back to that dark corner of my mind.

Until the next report card comes.

My Daughter Is Angry

My daughter has been waiting over nine months for a liver transplant.

And my daughter is angry.

She’s angry at God. In her eyes, He’s the one who created her with this disease, it’s His fault.

She’s angry with me. I’m her mom. I am the fixer of boo-boos. Yet with this, I am powerless, and that frustrates her.

She’s angry with the transplant coordinator; afraid that she’s completely forgotten about her.

She’s angry with the organ donors who, as terrible as this is, haven’t died yet. She doesn’t completely comprehend that a tragedy has to happen to a family in order to have her transplant. She just knows that a donor has the liver she needs.

I try to soothe her anger, but I’m not very successful.

Maybe because I am, well, not angry, but frustrated too.

The “R” Word

Maple Syrup Urine Disease (MSUD) is a rare genetic condition that can lead to severe symptoms, including disabilities.

This is her daughter’s story:

“What a retard!”

When you say things like this, I want you to remember a face.

annasoccer

This is my daughter. In this picture, she’s playing soccer. With a Special Olympics team.

You see, she was born with a metabolic disorder that caused brain damage when she was only a week old. She may never read over a third grade level. She still has a speech impairment despite 12 years of therapy. She’s socially inept at times.

Yeah, she’s what some people would call “a retard.”

Only that word is complete and utter bullshit.

Hearing that word cuts both her and me worse than any knife could. There is absolutely no reason to use that word. EVER. Don’t give me the bullshit that it’s a medical term. If you do, I’m liable to scream “shut the fuck up” in your face. Well, maybe not, but I will be screaming it in my head.

If you’re going to use the word retard, you might as well use words like nig****, fag****, dyke, cunt… Oh, but you won’t use those words. Those are bad words.

But retard? Well, that’s not so bad. After all, the only people that’s only insulting the mentally impaired. And they don’t know what is going on, do they?

I have news for you though. They do know what’s going on. Mentally impaired people have feelings, hopes, and dreams just like the rest of us. If you take a few minutes and actually get to know someone who is mentally impaired, you’ll discover that.

This isn’t about being politically correct. It’s about showing some RESPECT.

Not What I Was Expecting

Before I became a mom, I had a certain expectation of what motherhood would be like. We would have a healthy baby, she would have so much in common with Lance, my husband, and I. She would be an avid reader, unable to put a book down. She would be well-spoken, and involved in theater and maybe even debate club. She would be musical, marching in the band or playing in the orchestra. She would have a regular spot on the honor roll.

When Anna was born, she was healthy. The fact that she scored 9 on the Apgar scale was a point of pride. Then, after a few days, our world slowly started to turn upside down.

When she was diagnosed with Maple Syrup Urine Disease at eight days old, a whole new definition of motherhood was thrust upon me. I had a very sick baby, with a disease with a weird name about which I knew very little, and who was potentially brain damaged. I was introduced to a world that I never knew existed.

I never knew what leucine, isoleucine, and valine were, or how much my daughter would be allowed to have within a day.

I never thought I’d be in an emergency room watching a doctor and a group of med students smell my daughter’s diaper.

I never knew how terrifying a simple stomach bug could be.

I never thought I’d have to use my entire body weight to hold down a screaming child so the nurse can insert an IV that will save her life.

I expected to use our blender to occasionally make margaritas. Not to blend a foul smelling medical formula at least once a day, every single day, for almost 13 years.

I never expected to burn out 3 blenders during those almost 13 years.

I never thought I’d have to poke my daughter’s heel/toe/finger to bleed it out on filter paper, or check urine samples to see how cloudy they are when mixed with DNPH chemicals.

I never expected to have to explain my daughter’s disorder to everyone.

I never thought I’d have to patiently re-explain when someone would say “she can’t eat meat… but she can eat chicken, right?”

I never thought I’d throw my “what to expect’ book against the wall because she was not meeting developmental milestones like the experts “expected”

I never thought I’d know what an IEP is.

I never expected to be cheering for her as she competed in the Special Olympics.

My version of motherhood never included all of these challenges. This was not what I signed up for. Yet, despite all of these challenges I’ve faced as a mom, I wouldn’t trade one of them. I will face all of those, plus whatever else MUD throws at me, because that is what it means to be Anna’s mom.

And that is a blessing I thank God for every day.