Our little family got some news last week which has shaken up our lives a bit. As I sat down to write this I realized including everything would be a massive post that no one would ever want to read, so I’m splitting it into two days.

I took the Menininho for a hearing screen when he was 6 months old. Something just didn’t feel right; I didn’t think he was responding to noise the way he should be at that age. Everything checked out though, so I chalked my concerns up to being a first time mom and put it out of my mind. Menininho continued to develop at a pretty normal pace.

At his 12 month appointment, I had some concerns for his doctor. I know you’re not supposed to compare kids, but let’s be honest moms: it’s impossible not to! Menininho hadn’t added any new sounds, spoke no words, wasn’t following commands, didn’t dance or bop along to music, and didn’t respond to any of the ASL we’d been trying to teach him for 3 months. The pediatrician said yes, he should have done those things, but of course there’s a wide spectrum for development and if, at his 15 month checkup, he hadn’t said a word yet then we’d talk about a speech therapist.

Surely OUR kid wouldn’t need a speech therapist! He loves books! They’re his favorite toy. He engages strangers in conversations of gibberish! He’s a generally happy kid and extremely social and expressive. He’s already got his Daddy’s Italian hand gestures down pat!

But, by the 15 month appointment I hadn’t noticed any changes, except that he’d *just* connected the sign for food to going to his high chair, and he responded to “no” when accompanied with an angry voice and head shaking. The pediatrician was more concerned, suggested a 2nd hearing screening, and said otherwise we could just wait and see till his 18 month appointment. Only, he didn’t pass part of the hearing screening. The nurse told me it was no big deal, re-check in 3 months, but I called one of my best friends, who just happens to be finishing her doctorate in audiology, and she told me otherwise.

So I made an appointment with our hospital’s audiologist. The scheduler tried to tell me it would be July before I could get in. But you know how I roll, and I insisted she check the schedule again. Poof! There was a May appointment! And then we got a call last Monday night offering us a slot the next morning.

After a few tests, the audiologist told us she didn’t think Menininho has a hearing loss, though she can’t be sure without more testing in a few months, but she believes it might be an auditory processing disorder. That’s when the brain doesn’t know how to interpret the signals it gets from the ears. She recommended we take him to see a speech therapist for further testing and treatment as soon as possible.

Now we wait. We know how important early intervention is, so we’re praying we get call backs about an evaluation this week, and that it doesn’t take 3 months to get the appointment. Maybe this will turn out to be just a simple delay and nothing more, that would be great, but now I’m just anxious to start evaluating.

Tomorrow I’ll write on my thoughts and feelings about all of this.

How to screen a pediatrician is a question that came up over Twitter recently. It’s a topic that I gave a LOT of thought while I was pregnant with Menininho, so I figured I’d blog about the process I went through and what questions I asked.

First: Yes, you DO need a pediatrician picked out before the baby is born. Don’t wait till the last minute to find someone because it might take a little while. Check to see whom your insurance covers, as your friends, look around online, then call a few offices to see about making prenatal interviews. I even called the National Marfan Foundation to see if they had any suggestions and they were able to put me in touch with someone in my area who could help me.

Here are questions you may want to consider asking potential pediatricians, in no particular order:

1) What are your thoughts on breastfeeding vs. formula feeding? What do you know about breastfeeding? You want to find a doctor who is aligned with your views. If you want to breastfeed and the pediatrician has free formula samples everywhere, that could be an indication of how supportive they will be. On the flip side, of you’re planning to formula feed and the pediatrician is dead set against formula, you might feel uncomfortable. As a general rule, I don’t depend on pediatricians for breastfeeding advice. Check out breastfeeding support groups in your area or find a certified lactation consultant instead.

2) What are your thoughts on feeding on demand vs. scheduled feedings? This can be a contentious point if you and your doctor don’t agree on philosophy.

3) When do you advocate starting solids? While many people start rice cereal as early as 4 months, the American Academy of Pediatrics recommends breastfeeding or formula feeding exclusively until 6 months of age.

4) What are your thoughts on vaccines? If you plan on doing anything than the traditional schedule, you’ll want a pediatrician who is on board. I knew we were mostly pro-vax, but probably didn’t want to do a traditional schedule. I was very grateful that our pediatrician was not only ok with this, but had done reading in the area and could guide us into the best schedule for Menininho based on our family’s specific health issues.

5) What are your thoughts on co-sleeping? Sleep training? Again, this can be a contentious point if you and your doctor don’t agree on philosophy.

6) What are your thoughts on circumcision? If you decide not to circumcise your son, you’ll want your pediatrician to be informed (i.e. – not retract the foreskin).

7) How familiar are you with both physical and behavioral milestones? How much of the well visits will be spent discussing these? We all want to make sure that our kids are on track, and it’s pretty easy to look up the physical milestones online or in a book, but I think the behavioral ones can be even more perplexing. A doctor who spends time at each well-visit letting you know what milestones to expect for the next visit is a doctor who will help you catch any problems early, when intervention is most effective.

8 ) Do you have separate well child and sick child waiting rooms? This could help prevent your healthy child picking up a virus while waiting for his turn to be seen.

9) How far in advance do you need to make a well-visit appointment? How long does it take to get in a sick visit? Will your child see her pediatrician for a sick visit, or another at the practice? Our pediatrician is very popular, so we get great well-visit appointments with her but rarely see her when Menininho is sick. The trade-off is that we always get same day appointments.

10) What happens when there is an after-hours emergency? Is there an answering service? Who is answering the phones and who gets paged? At our practice, a nurse practitioner answers the phone (we’ve experienced this first hand a couple of times), takes the information, dispatches some medical advice, and then pages our particular pediatrician.

What questions did you ask when screening pediatricians, or did you screen any?

Today starts a three-part series: Marfan Through the Eyes of the “Unaffected.” You’ve read my story, but what about how Marfan has affected those around me?

Over New Years Mark, the baby, and I met one of my college girlfriends and her fiancée for lunch. This friend has chronic pain, worse than mine, and at one point during the meal gestured to her fiancée and remarked “Yah, I don’t even know why he’s marrying me!” Her fiancée pointed at Mark and said, “Well, he married her!”

And that got me thinking…why did Mark marry me? [I mean, besides love and all that jazz.] How did he/does he view Marfan that makes him want to stay, when it’s made other guys run away? And from there, I wondered about the effects on my other family members growing up. Aside from the medical bills (OH, those bills!), we never really discussed the impact my illness had on them.

So today, you’ll hear from my mother. Next Monday my brother is posting, and Mark will round out the series.

I’ve already written some about my mom, but as a quick intro, she’s a Brasilian immigrant, former dancer, and current PhD student. She raised three kids, four if you count my dad. And this is her story of my diagnosis.
There were a few things about 8 year old Maya that defined her: her love of everything having to do with horses, her skinny arms and legs, and her political activism (yes, even at age 8 she stood up for things, wrote editorials and kept an eye out for unfairness anywhere).

That my children were not athletic was not a surprise to me – after all, the apple does not fall far from the tree. However, Maya’s inability to do some of the most basic things (ride a bike, hit a ball, etc) began to cause me concern when it appeared that she lacked the muscular strength to do them. At her yearly check up I brought up my concerns to her pediatrician, who began to study and measure Maya as if he had never seen her before. He said to me, “I am sorry, I don’t know why I didn’t see it before,” and then he referred us to a life of doctor visits. First a geneticist, then a cardiologist, then an ophthalmologist, and so forth…

I have to admit that the magnitude of the diagnosis did not impact us for a few years. Maya’s condition was not straightforward, so the diagnosis was nebulous – maybe she has Marfan syndrome, maybe it is something else, in the meantime, we will treat her as if she has it. So, for the first few years we did not really think that she had Marfan, we just thought there was something amiss – something that needed caution and concern, but was not as scary as it appeared.