Musings of a Marfan Mom

The Geneticist Visit

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The four of us met with a genetics team (geneticist, genetic counselor, pediatrician) on Tuesday morning. I hadn’t wanted to make the appointment because there’s not really anything they can tell me about Baby J and Marfan that 1) I don’t already know or 2) I don’t have a better person to ask. I know how Marfan is passed on. I know what to look for. I know J may be more severely affected than me. If I have a question about his heart, I’ll call his cardiologist. If I have a question about his eyes, I’ll call his opthamologist. Anyway, I was told that we had to make an appointment because genetics manages the Marfan clinic, and while we were at it we should get some genetic testing done on M to look for chromosomal abnormalities that might be related to his autism. Fine, sure.

I’ll be blunt. I really hate initial Marfan-related doctor appointments. Take genetics. There are only so many times I can stand to hear the “when a woman with Marfan and a man without Marfan love each other very much and decide to make a baby, there’s a 50% chance that baby might come out with Marfan” speech. So, I now try to find a way to very politely tell the doctor that by the way I’ve known about my diagnosis for almost 18 years and I do x,y,z volunteering with the National Marfan Foundation, and I promise I know my stuff. They did not care at this appointment. They were going to make sure I knew the basics, gosh darn it!

Anyway, it was more or less an uneventful appointment. The genetic counselor gave me a bit of a hard time when I mentioned the new diagnostic criteria and the geneticist made air quotes around the word autism such that I got the impression she doesn’t believe it exists, but that was it.

M, J, and I tried to meet up with some Marfriends from Nevada afterwards, but their appointments had been delayed. So, the boys and I headed to the hospital cafeteria for lunch. At this point M had been saying “poo” for over an hour. Nope, not a dirty diaper…he just gets into cycles where he repeats the same word over and over and over again. It was beginning to wear on my patience, but once we sat down to eat he settled down.

For awhile, everything was perfect. M was happily eating his hamburger and pineapple pieces. J was content. I was feeling relaxed and enjoying this time with my boys.

“Your baby is so cute!” the man sitting near M commented. “How old is he? Your older son is sitting so well too.” He turned to M. “You must be a great big brother!”

Well, in someone else’s story the toddler would flash an adorable grin and the parent would relish their moment of parenting win. But, this is my family we’re talking about, and my toddler has a problem with stuffing his mouth right now, in order to get enough oral sensory input. While I had been distracted with the baby, my 2 year old had been adding more and more food into his mouth. M chose the exact moment the man spoke to him to begin emptying his mouth onto the table.

I handed my son a napkin but he doesn’t understand the whole “spit the food into it” thing, so he used it to bat the food off his tongue, sending chunks flying everywhere. I couldn’t help it: I started cracking up. I eventually got him, the table, and the floor cleaned up.

No sooner had we settled back down eating though, then he decided to howl like a dog. In fact, he’d stand towards the back of his chair, howl, turn counter-clockwise so that he was facing the table, sit, take a bite of food, turn towards the back of his chair again, stand, howl, rinse, repeat. I debated trying to get him to stop, but in the scheme of M’s behaviors, this was pretty innocent and kind of cute.

Added benefit? All that sensory input helped him sleep on the way home and gave us a tantrum-free afternoon.

What cute things have your kids done recently?

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11 Comments

  1. Well, as you know I don’t have my own kids, but my little niece is learning to say Amanda right now and its soooo adorable!!! It sounds more like amam-bada, but she’s getting there!

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    marfmom Reply:

    Awwww! That’s the best! How old is she?

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  2. It sounds like you went to the appt alone. That’s impressive! My five-year-old told me the other day that “the puke in your eye gets bigger when it’s dark.” 😛

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    marfmom Reply:

    Lol that’s really cute! And I actually got to have my husband with me at this appointment (most I do alone b/c he works), which was great as he could help keep one child happy while the other was being examined. He had to leave for work as soon as the appointment was over though, so he missed all the lunchtime fun! :-p

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  3. Hi

    I’m in the uk and I think our geneticists seem to have a different role. At the moment the nhs seem to have decided that we don’t need a ‘Marfan Geneticist’ anymore but this is to our detriment. Previously the geneticists involved with our family actually served to co-ordinate our care…..ensuring that all medical ‘experts’ were fully aware of the needs of a Marfan patient and trying to make sure that we got all the care we needed from the various agencies. Now this has been ‘withdrawn’ we feel we are somewhat out on a limb. We could ask to see a geneticist but he will have much more of a ‘general’ knowledge….not the knowledge of ‘all things Marfan’ that we are used to :(

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    marfmom Reply:

    Why wouldn’t you need a Marfan geneticist anymore? It’s not as if the Marfan has gone away! In *theory* our geneticists are supposed to serve the same role and coordinate J’s care, but in practice it doesn’t work that way. I just schedule all his appointments myself and the geneticists are not particularly trained in Marfan.

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  4. I’m with you on appointments with doctors/specialists/whomever who can’t get it that you’re an educated person. My personal favorite lately is the IEP meeting where protocol says that they have to read the whole darn document to me, despite the fact that I walk in with a highlighted copy, a numbered list of concerns and have provided initial feedback before the meeting even happened… we skipped the ‘autism genetics’ for Liam too… they don’t know what they’re looking for yet and no different course of treatment if they do find something .. so why pay $$ for it now.

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  5. Joci has started saying “Hi!” and waving, which is fun. To be completely honest, she may just be making random sounds… but I like to pretend.

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    marfmom Reply:

    Yay! Waving and hi are great! :-)

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  6. My child has 2 phrases he tends to repeat thanks to his echolalia. “Hong Kong Phooey” and “vagina”. He picked up the second one when I explained that his cousin didn’t have a penis and I didn’t either. We went to pick up candy that the kids sold at school. I’ll let you figure out which one he was repeating today.

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  7. I really hope our apt with the geneticist next month goes well. If not you may need to start charging a consultation fee! (actually you probably should have already billed me!) Thank you for sharing your knowledge and adventures!

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