Monday, January 28, 2013

Catching Up (Bullet List Version) and December's MDA Clinic Visit

I think it is probably fitting that 2012 transitioned to 2013 in a tempestuous fashion, given the earth shattering way that 2012 up-ended our lives. I had intended to get on a more regular schedule with updates and changes to the site, but life really hasn't been conducive to a quiet half hour or so at the keyboard. To catch everyone up with the Cliff's Notes version of events since Halloween:

  • We went to Disney (thanks to some really awesome friends and family)
  • I got promoted to Director of Core Systems and Telecommunications at CPCC
  • The entire family got food poisoning at Showmars
  • Then we all got the flu
  • We got to see some of our favorite people over the holiday break (and Jordyn did drunk pushups)
  • Talen went for his second visit at the MDA clinic (first in the full rotation)
  • I wrapped up a project at another university in a less than satisfactory manner
  • Pulled decent grades out at the last minute for fall semester, and signed up for Marketing Management and Professional Ethics for spring.
  • Talen slipped and broke his femur while walking down the hall
  • I went to ACUTA in Tampa and caught pneumonia
That should get everyone caught up in less than five minutes. I'll expand on the MDA clinic after the jump, and add posts on other pertinent items another time.

MDA Clinic Visit 12/20/2012

This was our first visit to the MDA clinic during the actual "clinic" days at the CMC Neurology office across from CMC Main. The idea behind the MDA clinics is that the impact of diseases under the MD/ALS umbrella have a diverse range of pathologies, and patients benefit from access to a comprehensive range of specialists.

The Charlotte MDA clinic was already very busy when we showed up at around 8AM. We signed in and were taken back shortly by a nurse who weighed and measured Talen before talking to us about how the clinic works. In a nutshell, we have the option on clinic visits to speak with geneticists, dieticians, physical and speech therapists, social workers, respiratory therapists, and of course the neurologist. We opted to speak with the geneticist and speech therapist before seeing the neurologist.

While waiting in the lobby, we were visited by Allie and Barbara from the MDA. They were making the rounds talking about some of the things going on with the MDA, mainly the MDA Muscle Walk in March. I'm not sure if we're going to participate, but here's a link in case anyone is interested: MDA Muscle Walk

Our first visit was with Amy Wright, the clinic's speech therapist. Amy was super nice, but seemed surprised to see us. She confessed that most of the patients she saw were elderly patients who needed assistance using the phone, but still gamely listened while we talked about our concerns with Talen's verbal development.

Brief Historical Footnote: He had been in speech therapy from pre-k through the first half of kindergarten, but after we moved him from Barringer to Matthews Elementary the speech therapist at Matthews decided he did not require speech therapy. We were informed by the speech therapist at Matthews that his speech impediment was a ploy for attention. We're still a little cranky about the whole thing.

Amy acknowledged that Talen had some obvious speech deficits producing certain sounds, but she said that the sounds he is having issues with are often the last sounds for kids to master. I think she was uncomfortable being asked to evaluate another speech pathologist's opinion, and in hindsight it probably wasn't fair to present it in that context. She admitted that it seemed off that he would be removed from speech therapy, but added that the guidelines are open to interpretation so there's not much to gain from pushing back too hard.

It's a petty sort of semi-vindication, but when you're having the kind of run we have had you take what you can get.

Amy gave us a referral to a private speech therapist, and we returned to the lobby to wait for the next specialist.

While we were in the lobby again I stopped by the clinical trials table to see what the Charlotte clinic was involved in. I skimmed over info about trials I've heard about with exon 51 skipping or Coenzyme Q10 and lisinopril while the girl working the table talked about some of the diagnostic trials available. We were asked to consider signing up for a trial where patients would be subjected to needle biopsy, with the material gathered to be used for research. I told the girl we would consider it, but if I'm being completely honest, right now I feel like Toomee is getting poked with enough needles. It might not make sense, but he sits so stoically for every pinch and poke (even though he hates needles) that I just can't bring myself to have him poked one more time than necessary. Maybe in the future he won't be getting jabbed as much, we'll see.

I think the geneticist we spoke with was actually a genetic counselor, and I sadly forgot to write down her name, but she was intelligent, well-informed, and very compassionate in discussing the genetic implication of the diagnosis, especially when Lisa broke down while we were talking about the possibility of inheritance. We already have the in's and out's of basic Mendelian genetics, so we skipped the whole discussion of what X-linked recessive disorders mean. This prompted the question about my background, which I'm starting to suspect is just empty flattery lavished on anyone who demonstrates an Intro to Biology level of familiarity with genetics. It's alright if it is, though, I still like it.

The genetic counselor sent Lisa to have blood drawn for screening. If Lisa tested negative, Talen's DMD developed spontaneously in utero, but if Lisa tested positive then the girls would need to be tested too at some point, since they could also be carriers. I think there's also a really rare third case, where the mother's blood tests negative but her ovum carry the mutation, but I couldn't find the citation for that if I had a gun to my head so I may just be making that up. Either way, I'll post the results of the testing in another update, maybe.

We wandered back to the lobby and waited...

And waited...

And waited...

As we started to get closer to noon, Talen started getting antsy, and I was getting anxious to get back to work. Lisa went to the front desk and asked if we could reschedule to come back and visit the neurologist on another date, and we were told to wait another 15 minutes and reschedule. 15 minutes later, we were told we would be taken back shortly. Scott, the physical therapist, ran past at one point on his way to twist one limb or another, and looked at us like, "What are you guys still doing here?" Finally we were taken back to see Dr. Bravver.

Dr. Bravver was very curt, but we knew to disregard this from our interaction with her over the summer. We wanted to talk to her about the issues that had come up during Talen's hospitalization for rhabdomyolysis back in October, mainly how to handle what seemed like a lack of protocol for dealing with kids with something like DMD in a general pediatric hospital. I don't know if we were cutting into her lunch hour or if she just found out that the Boris and Natasha spin-off got cancelled, but we were shut down pretty directly. The conversation went something like this (super paraphrased to suit my needs):

Me: ...So then we went to the emergency room and they told us that it looked like rhabdo, that if his total cpk was elevated that we would have to stay until it came down. I asked what is an acceptable cpk and they couldn't tell me.

Bravver: They can just call us.

Me: They said they couldn't get you.

Bravver: Then your pediatrician should be able to answer questions for them.

Me: I don't think my pediatrician is going to be able to field questions about a rare disease.

Bravver: DMD isn't a rare disease, 1 in 3500, etc.

Me: She told me she has only seen one other case before.

Bravver: You should get a new pediatrician.

Me: The diagnosing neurologist had only diagnosed one other case in 13 years.

Bravver: Whatever, kids with DMD are the same as regular kids, hospital should be able to treat them the same.

Me: Except for cpk.

Bravver: Right, except cpk.

Me: And AST/ALT.

Bravver: Yes, yes.

Me: And the anesthesia issues.

Bravver: Of course.

Me: Is there anything else?

Bravver: No.

Me: Ok, since I'm not going to get any help here, can I get results from any tests you have records for so we can build our own baselines?

After that, Bravver ran Talen through the normal physical tests (pull my arm, stand up from supine, run down the hall) and asked about whether or not we had seen an increase in falls (we hadn't). She then told us that given the increase in falls coupled with his age it was time to start him on glucocorticosteroids.

Now, I'm ok with starting him on prednisone/deflazacort. From what I've read, starting as early as possible is a good thing. But why ask us if he has had an increase in falls if you're just going to tell us he has no matter what we say?

To her credit, Dr. Bravver is on board with prescribing deflazacort. I guess more doctors are accepting it as a viable alternative to prednisone, but it is still technically not FDA approved for use in the US so there's some indication that prescribing deflazacort is a little progressive. I guess I could spend more time grousing about how ill Dr. Bravver seemed, and it would have been nice to have a more open exchange about how to handle the emergency room, but in the end the result was what we needed.

We left the clinic with the prescription for deflazacort in hand. Still haven't ordered it yet, though. We wanted to wait until after the holidays, and then Talen broke his leg...

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