Good News From Chicagoland!

We spent Thursday and Friday at the University of Chicago Medical Center with Craig.  Craig agreed to participate in a clinical study that will track the progression of the disease through yearly visits.  For his trouble they pay him $100.  The cost to him is one vial of blood at the first visit, which was nearly a deal-breaker.  It took two weeks for him to finally agree to participate and he only did it because he "knew Mom would guilt-trip me if I didn't."  Now that it is over he is thinking only of the $100/year he'll get.  It is amazing how the anticipation of a blood draw ties him in knots and how quickly he unwinds after it is over. 

Thursday we saw the cardiologist.  We got to Chicago a couple of hours early because it is impossible to predict how bad the traffic will be.  We thought we'd kill time by eating breakfast, but Craig and Kelly both refused to eat.  I'm not sure what Kelly's problem was, but Craig's was fear.  I told him that they wouldn't be taking blood today, but he never believes me.  It was finally time to check in for the Echo, but there were all kinds of problems.  He was in the computer, but they didn't have any paperwork.  This was an adult lab and she wondered if he should be seen in peds.  Finally she asked me to sit down while she figured everything out.  A hour later the paperwork finally showed up.  We sat another 20 minutes and then I asked how much longer it would be because his next appointment was in 25 minutes.  She looked at me and said, "He won't make it."  I think it is a sign of my incredible self control that I didn't hit her.  She then told me that they were at lunch and Craig was second in line when they got back.  Amazingly I did not shout when I reminded her that we had been waiting for an hour and a half.  She offered to call his doctor and tell them we'd be late.  I fumed back to my seat, but 5 minutes later they called his name.  When he came out he said, "I know something is wrong because they wouldn't tell us anything."  I tried to calm him by explaining that the techs can't say anything, only the doctor can, but I don't think he was convinced. 

We got to the cardiologist right on time, but waited 30 minutes.  No problem.  We were old pros at this by now.  Fortunately the doctor was nice, friendly, very apologetic and extremely knowledgeable about FA.  His EKG was normal, his Echo showed slightly thickened heart walls, but she said it was something she picked up because she was looking for it. The report will probably come back normal and she said the heart issues with FA patients are way overstated. Most of the patients who develop heart problems get very mild versions of them so it really isn't a worry. That said, she told him what to watch for and to not ignore things like an irregular heart beat, rapid or slow heart beat, shortness of breath, chest pain and other typical heart symptoms. He's never had any so that is good. He has to wear a Holter monitor for 24 hours, which monitors his heart rate, just to be sure, but there is no evidence that anything is wrong. We'll take care of that some time in the future.  We really liked the doctor and Craig thawed out fairly quickly. He was so wound up all morning through the drive to Chicago and while we waited, but quite chipper afterwards and really hungry.  We checked into our hotel (which involved another ridiculous wait), then went to The Rainforest Cafe for dinner.  That place is an experience.  The kids would have loved it even if we hadn't eaten a thing.  It is highly overpriced, but fortunately the food is really good.  The kids came home with t-shirts and souvenir drinking glasses.  We came home broke, but that was mostly because of the parking expenses.  Ridiculous.

Friday Craig knew a blood draw was ahead of him so he was quite stressed.  (To give you an indication, his blood pressure was 130/90.  Usually it is 90-100/60-70.  Kelly was not happy about spending another day in the waiting room, but we didn't really have any choice there.  The neurologist was running on time (hallelujah!) and his nurse/research partner came in first and talked to Craig.  She was fantastic!  For someone who had never met Craig she knew exactly how to talk to him.  She introduced herself to us, then looked right at Craig the whole time as she explained things to him and made it clear he had a choice about whether or not to participate in the study.  Her manner helped to calm him down and when it was finally time for the blood draw she went with him, talked to him the whole time while we were waiting for his turn and stood by him while it was being done.  She gave Craig her card, told him to call with questions or if he just wanted to talk or if he got a new girlfriend.  When we left she asked Craig if he'd give her a hug (she's a little older than I am, I think) which he freely gave.  Then Kelly said, "I'll give you a hug.  You're awesome!  Vicki is pretty much perfect in my eyes.

Dr. Gomez, the neurologist, is pretty cool too, a bit absent-minded professor-ish.  He specializes in ataxia and is in the inner circle of doctors studying FA, doing research and pushing for a treatment/cure.  He totally knows his stuff, is full of information and most importantly, hope.  As Vicki explained, for most dominant ataxias the plane is just taking off, but for FA, the plane is getting ready to land.  Thanks to a small group of dedicated doctors and scientists like Dr. Gomez, the knowledge about FA and the discoveries are growing very fast.  There is a very promising treatment that has shown excellent results in mice which received fast-track approval to begin the drug trial process.  It is currently in Phase 1 which is the toxicity trial.  After Phase 2 doctors can legally prescribe it, though insurance companies typically won't pay for it until after Phase 4.  If Repligen works in people like it works in mice it will stop the progress of Craig's disease by reactivating the frataxin gene.  Time appears to be on Craig's side at this point.  He is considered to have fairly mild symptoms which would indicate that his progression is very slow.  Dr. Gomez was surprised when he looked at the results of Craig's genetic testing.  The test measures the number of GAA triplet repeats in his DNA.  Normal is less than 33.  I think anything over 100 is considered positive for the disease.  Craig's are 900 on each allele (one from me, one from Tom).  Anything over 700 is considered to be fairly severe.  Dr. Gomez said that looking at Craig he would expect his numbers to be 400-500.  He also questioned the results, because while it is not impossible for two parents to have exactly the same number, it is unusual unless they are second cousins or something, so he's going to have the test repeated.  That doesn't mean he suspects Craig doesn't have FA, just that he thinks the numbers may not be right.

The clinical study involved a series of tests, putting pegs in a peg board, walking, touching the doctor's finger, then his own nose...stuff like that.  Some were timed, some were a measurement of accuracy.  It was interesting to watch and he did pretty well on most of the test.  The funniest part was when Vicki would tell the doctor he wasn't doing the test right and Dr. Gomez would say, "Really?  I helped write the test.  Why did we decide to do it that way?"  Then he would shake his head and Vicki would roll her eyes.  The whole visit took 3 hours, ending with the blood test, but it was well worth it.  Craig really liked everyone we worked with so we'll be back for annual visits. 

Once we were done Craig was perfectly relaxed again so we went to the Lincoln Park Zoo before heading home.  It was wonderful to come home with hopeful information.  They did talk about a few things in his future, like a walker, and that wasn't very comfortable for him, but that seems to be a ways off at this point.