Back to the basics: The big players; part 3 - The GI tract (a.k.a. the root of all evil)

I don't even know if I have enough energy for this post - or brain cells.

During my pregnancy the maternal fetal doctor found a birth defect that made the Down syndrome diagnosis insignificant; Tomas stomach and intestines had never fully fused together and he would need urgent surgery shortly after birth.

When he was just 32 hours old Mike and I said goodbye to our oh so small son in the hallway outside the OR  and began the journey that now engulfs us. Three and one half years later we know a whole heck of a lot about how a GI tract is supposed to work, and very, very little about why Tomas' doesn't.

His liver wasn't working when he was born, it is now, but intermittently flares up with disease. He has had one liver biopsy which showed pericholangitis (swelling around bile ducts) and is having another one sometime in August.
His stomach refluxed food back up into his throat which then fell back down into his trachea; he had surgery (Nissen) to fix that at 6 weeks and again at 14 months when it came undone.
He had gallstones at 10 months old and his gallbladder removed when he was 15 months old due to chronic infection.
He had part of his stomach herniate up into his chest cavity and push on his heart, part of his liver herniate and push up through his diaghram, and part of his bowels herniate through his abdominal wall; all surgically corrected at 14 months old.
He doesn't swallow well, although this is slowly improving. He has little interest in food, but this is also SLOWLY getting better. That is the main reason he (still) has the feeding tube, because he can't swallow enough without aspirating on it, and because at this point he has never eaten by mouth and could never take in enough calories that way to sustain himself.

There is more to it than that though. Even if he would or could eat enough orally he would still have trouble. Food just doesn't move well through his lower GI tract. Sometimes it sits in his stomach, sometimes in his upper bowels, sometimes his colon. And heck, sometimes moves BACKWARDS. Again, no clear reason why. We do know it is not a anatomical issue - since his early abdominal surgeries his anatomy is correct and there are no blockages or anything else physical to prevent food from moving through. It just doesn't. His nerves and muscles don't coordinate digestion. Whether that is a nerve damage or neurological issue remains to be answered.

So that is why he is on TPN. As I mentioned in the blood post, in 2010 Tomas began losing weight at an alarming rate. He never had any stellar weight gain and certainly had his share of GI troubles before than, but that is when it all began snowballing. He caught a virus in March of 2010 and things went downhill fast. In many cases like his a virus is the trigger for an underlying/dormant issue (much like Autism can be "triggered"). By summer of 2010 he had lost 30% of his body weight, and his nutritionist and GI decided to put him on TPN to let his GI tract rest and give his body the nutrition it so desperately needed.

For the next year his GI here in NY has been trying to wean him off the TPN with a combination of pro-motility drugs (including one that is not available in the US and has to be brought in from Mexico), elemental formula, and a very involved feeding schedule. At its very best, Tomas has been able to take in 600 calories a day through his stomach, and his average is around 400. Just not enough to live on, much less grow and thrive. Part of what is new and what is changing is that during our last clinic visit the doctor said that Tomas is just not going to get off the TPN, and we all need to come to terms with that.
That means we are switching gears; no more urgency to get rid of the TPN before it ruins his liver. That is what TPN does, over time it damages the liver and eventually leads to liver failure. Sometimes it is a few years, sometimes it is many years. But it happens, and in Tomas' case the doctor said we should expect it in a shorter time frame since he has pre-exisitng liver issues and multiple other issues. TPN is life saving and life taking all at the same time. It prolongs life, had he never started on it one or more organs would have failed due to malnutrition. Since he did start on it (and can not get off it) one or more organs will eventally fail. This is the first time any doctor and I have had a serious conversation about Tomas' condition being life shortening.

Now the urgency is to understand his diagnosis. This news, along with his neurological issues, is the drving force behind pushing for that diagnosis. So we can effectively treat him to the best ability of medical science. The GI doctor wants to do a liver biopsy, muscle biopsy, and a botox injection to his anal sphincter. He plans to combine procedures with the neurologist and hopefully get everything done by mid-August.

Much of how we proceed will depend on the results of the biopsies and on what neurology (next post) has to say.