Internal Anal Sphincter Achalasia & Lymphocytic Ganglionitis

These are not fledgling nations newly recognized by the UN, nor archeological marvels in Egypt, nor are these words written in a foreign language. Theses are two seperate and distinct medical problems that have been attributed to Rory's condition.

If a taxi driver tells you he doesn't know how to find your destination, you'd be annoyed. If a mechanic tells you he can't figure out why your car engine makes that knocking noise, you might be frustrated. If your lawyer tells you he doesn't know how to defend your case, you'd be concerned. But when the doctors tell you that the only diagnosis they have for your eight week old daughter is a term that generically represents a class of problems so rare that they've never heard of it, you can't help but be scared. We are currently 'all of the above'.

We met with Dr. Fairbanks (Surgeon) and Dr. Le (Neonatologist) today to discuss the situation and path ahead. Dr. Fairbanks has had a little more time to think about, and further research the situation (I wonder if he uses Wikipedia?). Here is a synopsis of the discussion:

*It turns out, there was in fact one hit on the biopsy results. The specialist in Seattle that was sent a portion of Rory’s upper colon found what they call lymphocytic ganglionitis. As near as I understand so far, this is when the lymphocytes (white blood cells in the immune system) attack the ganglion cells, causing an inflammation in the colon. This is probably completely wrong, but there's not much immediate or obvious literature available through google, so cut me some slack. My beloved Wikipedia has failed me and remains completely silent on the issue. This one's going to take some digging to understand. Did I mention this stuff is rare? But this biopsy sample came from the transverse colon (see pic in previous post), which is up high and pretty far from the rectum where there are clearly other issues going on.

*The docs are also looking at Internal Anal Sphincter Achalasia. This is basically the same as ultrashort Hirschsprung's disease, but with the presence of ganglion cells. The sphincter muscle just doesn't function properly. So one fairly new treatment process includes injecting Botox to relax the muscle. It's not clear, but this could have a long term corrective effect, or could offer only short lived, temporary improvement. If the former, great! If the latter, well, you can't keep doing this every few weeks or months for the patients entire life, no matter what aging socialites might suggest. So the more historical corrective action is ISM, or Internal Sphincter Myectomy. They cut the sphincter muscle. This generally corrects the problem, but can leave patients with incomplete bowel control, or 'spotting'. A very awkward condition to carry with you into your teen years.

The plan is to continue on with Rory's incrementally increasing feeds, until she hits that 70 ml target. Then continue to feed her 70 ml for each feed, all the while applying rectal dilations. If she continues to respond appropriately to the rectal dilations, without distention of the bowel, we'll go home in about two weeks with a plan for feeds and dilations at home. But we can't do that forever, and the docs are still thinking over the Botox, ISM, or ileostomy for the IASA. Simultaneously, they are talking to the GI doctors to figure out a treatment for the Lymphocytic Ganglionitis, and we'll soon be getting to know those folks very well.

So where does that leave us? We've got a baby that otherwise seems very normal and unusually happy all the time, a stressed and frustrated mother that will kick, scratch, and bite before they can drag her out of the RMH or NICU, two siblings that have spent their entire summer vacation on extended sleepovers between friends' houses and the RMH, and a dad with a blog.