July 5, 2010

Doctors Aren't Always Right

This time of year we start getting into anniversaries....none of them good. You see, A's birthday was last week, and since she spent twelve weeks in the NICU, we had a whole summer of events that I'd just as soon forget: Her heart surgery at 10 days old to correct her vascular ring. Getting her g-tube placed at 2 months. The day we found out that she'd had a prenatal stroke. The day we learned she had failed her hearing tests and was deaf/hard-of-hearing. The list goes on and on, and I promise I won't bore my readers all summer by announcing things like "today is the anniversary of when we found out her vocal chord was paralyzed"....but today IS an important anniversary that I would like to discuss.

Four years ago today, on July 5, A was transferred by ambulance from the NICU in the local hospital where she was born to the NICU at Children's Hospital, which had a much higher level of care. To say that J and I were in shock was an understatement. First, I had just been discharged a few days before, without my baby, and was having to go back and forth to the NICU, pump breastmilk several times a day, spend time with my 2-year-old son, and heal from the c-section I'd had. I was physically, mentally, emotionally, and spiritually exhausted. Following the ambulance down to Children's was surreal. And just checking in was jolting: we'd gone from a small, local NICU with maybe 2 babies in it, to the hustle and bustle of Children's Hospital, whose NICU had about 40 babies. My baby didn't belong there---yet she did, and she belonged there for quite a long time.

That night, J and I came back to visit A (we had gone home to spend time with D). When we got there, a neonatologist approached us and told us that A had a heart defect (the aforementioned vascular ring) and would need heart surgery, and that additionally she had diagnosed A with DiGeorge Syndrome. Apparently, if you put together a vascular ring plus a cleft lip it points to DiGeorge Syndrome. She didn't tell us much....just gave us a handout about the disorder, and told us to "disregard the section in the handout about mental retardation". She spent about 5 minutes with us, talking to us in a very matter-of-fact detached way, gave us a handout, and left. That was it.

That night was terrible. I cried. I threw up. J cried (the first and only time I had seen him cry throughout that whole terrible summer). We were scared about her future...not only her physical health, but now her cognitive health. Remember, this was just the beginning of her life, and we had yet to learn all the other birth defects she had (vision issues, hearing issues, the prenatal stroke, etc). This was just the tip of the iceberg.

But here's the thing: A DOES NOT have DiGeorge Syndrome. They did a blood test and it clearly shows that her 22nd chromosome is intact (in DiGeorge Syndrome a piece of the 22nd chromosome is deleted). So, she does NOT have this syndrome...the neonatologist was WRONG.

It upset me then, and it pisses me off now, that this doctor made a diagnosis without knowing all the facts (waiting two extra days for the blood test to come back would have shown her that she had misdiagnosed). That would have saved me and J from a few days of needless worry, fretting and googling. It also made me angry that she would make such a bold diagnosis and simply give us, the parents, a little handout and then walk away.

Nonetheless, today is the anniversary of when I realized that doctors can be wrong...that you can never give up hope....that you can't go by a handout or an article or a google document....that children will prove you wrong, even WITH a correct diagnoses. No one can tell the future. Our kids have NOT read the books of what they are not "supposed to" be able to do. In essence, today is the anniversary of my eyes being opened, of asking questions, of hoping and praying.

And because of her intact 22nd chromosome? Now 22 is one of my lucky numbers!


  1. First of all, I can dig everything you're saying here. It's been almost impossible to get a proper dx for Little Bird. At 6 months old we visited neurology who said it may be brain damage so we did MRIs. Clear. Then he said it's probably a metabolic disorder. Blood and urine tests were clear. Then we saw genetics who just knew it was chromosomal. Nope. Microarray analysis was clear. Then those neuromuscular guys were sure it's either muscular dystrophy or mitochondrial disease. Muscle biopsy was clean. But the scar on her leg reminds me everyday.
    Hypotonia is all we have for a dx. Well, that and autism What a wild and confusing ride.
    Oh, and second of all, I'm a "head" too and my kitty's names were Cassidy and Sugar Magnolia. My boat is called the Sunshine Daydream. ;)

  2. Thanks Dani! It does sound like a roller coaster for your daughter. Hope you get answers someday. And I love the names of your cats and boat!

  3. It's funny how we can so easily remember the low times as their anniversary rolls around. I suppose that is what makes the present day so sweet...remembering where you've been puts today and all that is in it into perspective.

    Great post.


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