It’s one thing to have a doctor tell you something bad, it’s another to receive a letter written to your pediatrician (but cc’d to you) saying something bad. I know, sounds weird. I didn’t get it at first.
We received a letter in the mail that was addressed to our pediatrician. We were cc’d, so that’s why we got a copy despite being addressed to our pediatrician. The letter was dated Aug 9 and postmarked Aug 20. It contains some notes saying that we tested negative for Towns-Brocks Syndrome and that we should be tested for CHARGE Syndrome. CHARGE is bad in that the range of issues could include sudden decline and death. The last two sentences went on to explain that CHARGE is transferable, so they had a 50% chance of giving their kids CHARGE, if that is the correct diagnosis.
At first, it was the talk about CHARGE. As with any disease or syndrome, the worst cases pop up first in Google. So every time we get a letter with a new prognosis, we’re going through this ugly research phase. In this case, worst case is a report from another family that their child was normal until age 2, then their health went downhill. Is it a ‘de novo’ case or did they get it from me? If I have it, there are some health risks associated with it that I need to deal with for myself.
But then, the feelings were very angry. We met with the pediatrician on the 27th. Why didn’t he tell us about this? Why did he mention CHARGE, but leave out what the genetics doctors said? The geneticist said that he wanted to see us right away for an appointment. What is with this guy?
September, all our deductibles start over. We could have been tested in August when it would have been free, you know. Especially since the letter was dated August 9.
So, more to find out on Tuesday.
We decided to have a fun three day weekend. Good friends are here for us to support us. So much love has been given to us! We have worked through the shock and Tuesday I get to do good cop, bad cop with a couple of doctors. (I think I’m the bad cop. Then again, I think my wife believes she is the bad cop. Maybe bad cop, worse cop) Until then, we are going to just enjoy the three day weekend.
We have discovered that Dancing Bear enjoys laughing at Mommy and Daddy when they have hiccups. We have discovered that Baby Bear is more courageously diving off furniture. (We have a mattress in the living room, now.) I think all of us have laughed so much the past two days. My wife took time to re-read Order of the Phoenix and I have spent time with Statis-Pro Football, an old football game originally published by Avalon Hill (now owned by Wizards of the Coast). It’s been a good time.
Sure, I think of Habakkuk again. (How long O Lord?) and Soren Kierkegaard and Albert Camus. (fatalism) I even read where Pope Benedict spoke of “enduring the silence of God”. I get tired of holding Dancing Bear down twice a day and watching a tube go into her nose and down her throat.
But our son is talking about cooking with eggs again. He says that they are hot. He also says that the baby is eating and he is asking for water to play with. He talks about raisins and apricots and dogs and cats. Oh and by the way, the cat is eating. Also by the way, where are you hiding the pots and pans? Is it time to go in the car, yet? You think the baby wants to go? Is this funny (holds strainer to his face) or is this funny (holds block to forehead) or is this funny (falls straight back on the floor a la Nestea Plunge)? Look, I’m pointing at my brain.
Our son has a great future as a blogger.
In the end, it seems to br a matter of putting a name to it. All the experts are scratching their heads and saying, “but both of them have choanal atresias (nose blockage) and they are expressed differently”. It seems to be the Mother of All Caveats. I’m starting to count the number of times I hear that said. Once, I even said, “Did you know that babies are obligatory nose breathers?”
In 2003, there were two known cases of choanal atresias in siblings that are not twins. (This doesn’t count the four cases where the parents were consanguine. You look it up, it’s the best euphemism I’ve ever seen.) I can’t find more recent statistics than that. All the syndromes to date speak of some form of mental retardation, but all involved note that our son is pretty smart. (Obsessed, yes, but smart.) In some ways, it is special to think that our children are medically rare, almost unique.
But I didn’t need a doctor to tell me that they are rare.
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7 Responses to “More Difficult News”
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Hey Pink,
Glad you are having a good w/end despite the letter. BTW - no closets cleaned but we tore out carpet and vinyl in our master bath in preparation of laying down tile (my bd present from hubby. i’m not a big fan of carpet in a bathroom. just seems icky)
Be sure you hear your pedi out first before offering him a cigarette and shining the big light on him in some interrogation room. He may have had a reason to be dismissive of what was in the letter. Sometimes doctors want to run tests just because some unique situation comes up. Or he may not have gotten the letter until you did. There may or may not have been a good reason for suggesting the new dx. I continue to pray for all of you.
Hi PK,
I know God doesn’t give us more than we can bear… so God must really consider you strong. I’m sure he will also supply any necessary additional strength and endurance.
Glad you enjoyed your lovely little family! Also glad that you have some good support out there in the Great White… Midwest?
(((pink))) (((pink’s family)))
My love and prayers to you all.
Hold fast to those special moments with those special little ones.
I’m praying for the doctors find the knowledge to help you and for the two of you to stand strong against those doctors when needed. I worked with special needs children and my advice is to fight and fight hard for them and cry when you need to.
I do that for my children.
God bless you
I also think that your words our in the blog world are going to help other who struggle. Thank you for posting your life in an honest way.
I can’t comprehend what you must be going through with it all and hope that I never have to learn to through personal experience. Thank you for sharing it with me though.