Tuesday, September 13, 2011

He's just not that into us (doctor style)

Our genetics appointment last week came and went without much fanfare.  It was the same type of appointment that we’ve had a bunch of times now.

Part 1:  We meet with the assistant doctor (and med student/s, usually).  Update them on the past 6 months worth of appointments, discoveries, progress, etc.  Brief physical exam.  I present the new syndrome that I’m eyeing, my reasons for suspecting it, and the test that I think we should do.   (I feel like I'm pleading my case to a judge and resist the urge to take a bow when I'm through stating my case.)  Maya wanders around the room, investigating, searching for things to open/close/rip/crumple/make a mess of.

Part 2: The doctors tell me that she doesn’t seem like a typical kid with Xyz syndrome.  She’s too tall or too short, too nonverbal or making too much effort to become verbal, too high functioning (hey, that one was at least nice to hear), too stable on her feet (really?  Really?) or whatever.  I counter with “Yes, but I read that 10% of kids with xyz are able to walk independently, or that 80% don’t have cardiac involvement”, or whatever.

I resist the urge to throw up my hands and says “Obviously she’s not a typical kid with any syndrome . . . otherwise we would already have a diagnosis.  She’s an outlier.  Join me in thinking outside the box, won’t you?”

Part 3: “Ok, Mom, let me just go and consult with Dr. Hesincharge and we’ll come back to talk with you in a few minutes.”  Door closes, Maya wonders what’s going on here.  We play, and possibly probably shred the paper covering on the exam table.

Part 4: Dr. Hesincharge enters and reaffirms that Xyz probably isn’t a match, but we’ll run the test just to “cross our t’s and dot our i’s”.  I am happy that we’ll run the test, just to check.  Then he says  “So, after this test, there’s really not much that we can do here.” 

I deflate a little, and the deflation surprises me.  

Did he just break up with us? 

Dr. H:  It’s not you, it’s me.  There’s just nothing else that I can bring to the table here.

Me:  Uhhhh.   You’re, like, the doctor.  We need the doctor.  You’re supposed to diagnose things.  You can’t just quit on us.  Shouldn’t you be trying to piece clues together and read research papers and solve our mystery?

Dr. H:  All of the broad screening tests have been run.  I’ve done fancy test #1, fancy test #2 and even fancy test #3!  Then you wanted me to do test #4---even though I didn’t think she had Abc syndrome, so I did.  And now you want a test for Xyz, so I’ll order that too.  But there are, like, a LOT of other letters.  Clearly we can’t test for all of them.  And I could make you keep coming back once a year for physical exams, but I’ll be honest, I just have no clue.   So really, why keep up the charade that I’m actually providing any diagnostic care?

Me:  Ummmm.  This relationship really can’t be that draining for you.  Remember, I’m the one doing the legwork and the research?  But you have the fancy bloodwork forms, and the lab, and the hospital.  I can’t order the tests without you, man.  Don’t give up on us.  In a few months, I’ll start to wonder again.  And I’ll start to google.  And I’ll need your hospital lab and your bloodwork pad again.

Dr. H:  (Sigh).  Well, ok.  I guess if you need me, you have my email.

Me:  Thank you.  That wasn't so hard, was it?  And by the way, doctors shouldn't break up with patients.  Talk about literally adding insult to injury.  Sheesh.

That may be a dramatic elaboration, but the vibes in the room were similar.  “There’s really nothing else we can do here” is the doctoral equivalent of “It’s not me, it’s you”, I think.  (Although clearly, it’s not us, it’s him.) 

And I thought I really liked this doctor, too.  He seemed like a guy who would sink his teeth into the mystery of undiagnosed-ness and analyze all of the puzzle pieces with me, trying different things to see what fits.  But now I’m alone again.  Just me and the medical charts.

So I guess after the results of this test come back (3-4 weeks, but I’m not getting my hopes up) we’ll probably be done with Dr. Hesincharge.   We’ll settle into preschool routines and enjoy the fall and I might not even think about genetics for a while . . . but when I do, we’ll go back to the first geneticist that we saw (who was very nice, but also not very aggressive).  While he may have been a little more relaxed and slower to test, at least he hasn’t given up on us yet.


Foxxy One said...

Ugh that sucks! I can't help but wonder what my son's genetics team would think of Maya. I know his developmental pediatrician has a "thing" for genetics and pushed us to test Dylan (and they did find he has a deletion). Would you consider coming down to Philly? I can reach out to him, send him your blog and ask his thoughts if you like.

Anonymous said...

You might be the mother of an undiagnosed special needs child if you laugh and nod through the entire post and then put your head on your desk and cry.

Jennie said...

Just out of curiosity, is one of the many tests you've run CGH Microarray? My son is now 11 and for years we tested for this, that, and the other. It wasn't until this test was developed that we finally found the source for all the issues we were facing. You are certainly an on top of it mom, but just wanted to throw that test out there just in case... Good luck! I know we are all saying, "Been there done that". We can certainly relate. You are a great advocate for you child and thanks for allowing us to follow the journey.

Krystle said...

Sounds like our last genetics appointment. I hate it because I don't think too much about it..and then when they come up, I get excited and start to google..and it's like they have nothing!

They don't even spend time researching or wondering what it could be.

If it's not obvious or you don't bring it to the table it's pretty much not important.


Basically they said the same thing to us at the end, you can keep coming once a year but really you're just wasting everyone's time involved. You know, so all the kids whose genetic discrepancies are obvious can take the time. The ones that don't require time & energy.


Don't give up!

sd said...


I could add that Maya is simply spectacular. Or I could add that a Dr breaking up with you is probably good in the long run, he isn't right for you. Or I could add that even Dr House is wrong in his first 52 minutes worth of brilliant ideas. But I won't...I will just offer you the {{{Hug}}} and hope you wake up tomorrow excited about school and fall.

Holler if you need to. I am great at listening and hating others on your behalf :)

Cheryl (in Buffalo) said...

I have to say that your explanation of your doctor's visit is basically exactly the same thing as we went through at genetics...and at developmental clinic too (They said that our neurologist could do as much for us basically as the developmental specialist could....and, anyway, our developmental specialist was leaving the state so we couldn't see him anymore...and we loved him....). It totally feels like they are breaking up with you.....and abandoning your quest...and how could they??? Somehow undiagnosed children seem to rattle specialists a lot less than parents.... although I am still considering going to have a whole bunch of tests run in Pittsburg....where I know of a specialist interested and willing to do that...but can I afford it if my insurance doesn't cover it...and should I have to????

Michelle said...

Like Foxxy One, we also see a team in Philly. They're very good at diagnostics. My first son was sent there for his duplication & after I bugged them for a little, they tested my other son even though he didn't have the signs my older one had. Turns out he doesn't have the same disorder...it's something else. Persistence pays off.
Have they done the a-CGH/microaray karyotyping yet?

Colette said...

You have, in a nutshell, just described exactly what happened with our last doc and how I felt at that moment. The search for us has lasted 8.5 years with no end in sight. I hope that you get the answers you are looking for (although we never wish for our child to have xyz, it would be a relief to know the enemy's name). Oh and I relate to what anonymous wrote too.

Anonymous said...

This could be any of the genetics appointments we have been to in the last year - right down to the shredding of the exam table paper. I feel for you! We haven't recieved the "there's nothing more we can do" phrase, but have started getting "looks like we have to wait for science to catch up with your son". So - we are all just waiting I guess. Keep your spirits up!

jeneva22 said...

Great post. Having done this for 13 years, I can offer the following advice: often it's easier to make a neurologist your primary contact with genetics. You need to find a research neurologist at a major medical center--it's only through that world that you'll stay connected to advances in genetics and neurology. Stuff with rare diseases and genetics is changing all the time: my son is a great example of research catching up to a kid years later. Press these guys who are breaking up with you to articulate their areas of interest and expertise: ask whom you might see next if they're out of ideas. We've had 8 different neurologists in 13 years. The ones I appreciated most were the ones who said we'd reached the end of what they could add. But the key is making them refer you to someone else.

Anonymous said...

I completly understand. My little girl is undiagnosed, and we have been tossed from doctor to doctor. Our last genetics appointment sounds very similar to yours. We were told, and I quote "Come back in 1 to 2 years, and maybe we will be smarter." I was floored. What do you do when the specialists can't figure it out, and decide to give up. We are now flying to Philly to try to get some answers. I believe we are in good hands.

Anonymous said...

I LOVE your blog! It's so nice to see that I am not the only one with an undiagnosed child. It is so frustrating!

Dana said...

Foxxy---let me have some time to get some stuff together an have a second opinion here, but maybe someday I'll take you up on that.

Jenny& Michelle---yes, we've done a microarray.

Sd---I've never watched House. I'm not sure if I would relate to it or flip off the tv.

Jeneva---we've seen neurology but have been dismissed as not neurologically involved.

Thanks for taking the time to leave comments, folks.

s.e. said...

wow, your story sounds so much like mine. My dd is now 14 and largely undiagnosed, the learning disability diagnoses we have don't really fit, we have resisted an autism spectrum diagnosis because really she isn't on that spectrum and most doctors etc have told us that:( She didn't walk until 25 months, and was almost completely non verbal until close to 4, she was also in diapers until 4. We finally managed to get an MRI done this summer and it was inconclusive but just off enough to get that illusive referral to a neurologist, now we are waiting for that appointment, it may take a year:( in the meantime she is aging out of pediatrics, still can't read and struggles with tons of regular things most of which center around processing of sensory input.
I swore at the end of 2011 that I was just going to give up on trying to find a better diagnosis but the MRI referral got me started again (the ped. had told me that we probably wouldn't be offered an MRI, we live in Canada by the way).
This blog and the comments are the first time I have had contact with the parents of other special needs kids that are undiagnosed.

Dana said...

S.E---I don't know if you'll see this, but you're definitely not alone. There are many undiagnosed children out there. Google "Syndromes Without A Name" (SWAN) and you should be able to find a link to an online message board/listserv where you can connect with some other families.

Anonymous said...

I just shared this post on my facebook page. We have our annual genetics appointment next month, and of course I was "googling" to prepare and came across your blog. Absolutely spot on! Love it! I sometimes feel like we are just not interesting enough for the doctors to engage.

Anonymous said...

This reminds me of our first ever urology appointment. The pediatric urologist basically told me that all kids with the condition have bladder issues... so I immediately decided to switch specialists in a heartbeat out of frustration. He never answered my questions.