Alright, you ready?? I'm about to tell you about the past two days, three doctors and all that they said. Thinking about it makes me have brain freeze, so I apologize in advance. :)
Monday we went to see the plastic surgeon. That was a total waste of time and energy. First let me say that I am very happy to have this plastic surgeon. I have worked with him at the hospital and he is very, very good. Next let me say that his office is in Southlake. Right next to Central Market. Right across from the fancy Southlake Town Center. OK, got a picture in your head? It was VERY fancy, he was dressed very fancy, the hand scraped hard wood floors were very fancy, the perfume they spray in the examination rooms was very fancy (which by the was was uncool seeing as Dominic can't be around strong smells). So, he comes in, looks in his mouth, says "umhmm, just as I suspected, come back in 6 months and we'll schedule surgery." Now couldn't he have just done that over the phone? So, Dominic has a bifid uvula, meaning that thing that hangs down in the back of the throat is split in two, meaning he almost certainly has a submucous cleft palate. The surgeon says he is almost positive Dominic has a submucous cleft (meaning the bones under the skin on the roof of his mouth did not close as they should) but we have to wait til he is a bit older to be 100% sure. He referred us to a ENT b/c he is also sure Dominic's anatomy in his inner ears is not formed correctly (awesome) which makes him susceptible to chronic ear infections and deafness (again, awesome).
So, the problem with the submucous cleft palate is the muscles that normally attach to the hard palate (the bone in the roof of your mouth) did not attach where they were supposed to. So, surgery is needed to cut those muscles from where they attach now and bring them together in the middle like they should be. The consequences of not fixing the problem is feeding troubles, nasal talking, speech impediments. Thanks but no thanks, he has enough going against him. So, he will stack this surgery on top of another one to reduce the amount of anesthesis he gets. See, although he is uber fancy, I love him.
Now onto the Neurologist... If you thought that (above two paragraphs) were bad, just wait. Get your science hat on right.... now! OK, let me start by saying I really like our Neurologist. He is a quirky guy, kind of a goof, super smart, very thorough, patient with us asking questions... all you want in the doctor who is managing your kids brain abnormalities (I don't want the doc that won the popularity contest in high school if you know what I mean). SO, he has two main concerns:
#1: His brain is not myelinating as it should. Remember myelin is the fat that insulates the nerves. If you think of electrical wire, the nerve would be like the wire and the myelin would be like the rubber coating. If you don't have the myelin, the signal does not travel through the electrical wire as it should. For some reason, Dominic is not myelinating. He asked us if we think Dominic can see. I responded "not really" and he very matter of factly said, yeah I don't think so either. I told him the Opthamologist said his eye ball was healthy but for some reason the signal just wasn't being received by the brain and he said this could be from a lack of myelin covering the optic nerve, which is the nerve that runs from the eyeball to the brain. He is concerned that this may be caused by a mitochondrial DNA problem, which leads us to his second concern.
#2: So, he says given all of Dominic's problems and dysmorphic (different) features, it makes no sense why all of the genetic tests have come back normal. That coupled with lab work and the fact he is not myelinating as he should leads him to believe his problem may lie in his mitochondrial DNA. OK, high school science lesson, ready?? Every cell in your body has tons of these little things called mitochondria, which is like the power house of the cell. Their job is to turn food we eat into an energy source that the cell can use, ATP (are these terms ringing high school science bells yet??). The mitochondria also has a separate DNA that the rest of the cell (the "normal" DNA is in the cell nucleus). It gets it's DNA from the mother only, instead of from the mother and father (does that mean this is all my fault??). So anyway, it is possible that something went wrong in his mitochondrial DNA rather than his normal DNA which is why the genetic testing didn't pick anything up. The mitochondrial DNA requires a special, specific test to run those genes. He says this is not only important so that we know what is wrong, but with some metabolic genetic disorders, there is treatment. Now, treatment doesn't mean fixing what is wrong, but it could potentially mean stopping certain progressions.
Also, he went up on his seizure medicine, not because his seizures are worse, only because he is a big boy now and his weight gain shows he needs a bigger dose (yeah for getting chunky!). He also sent us for a blood draw to check his pyruvate and lactate levels. So, lactate is a substance that is made when your body is hypoxic (lacking oxygen). While he was in the hospital his lactate levels were consistently elevated, but we weren't sure if that's because he was not ventilated adequately or from some other reason. Lactate could also be high when you are talking about some of these mitochondrial DNA disorders. So, if the blood test results come back even slightly elevated, he will put us on a protective mixture of certain vitamins until we can get into the metabolic geneticist and get diagnosed. Phew... you still with me????
OK, now onto the GI doctor: So, we have been suspecting a milk and soy protein intolerance so for the past 2 1/2 weeks I have been avoiding all soy and milk (which by the way is not that easy). However I have been eating certain soy ingredients, such as soy oil and soy lecithin b/c they are so processed all of the protein in them is denatured (broken down). Well, yesterday they tested his stool and sure enough he has blood in it, meaning his intestines are inflamed. The doctor said he has a soy and milk allergy (these are the #1 culprits of blood in the stool) so now I have to go off of soy lecithin and soy oil. OK, stop reading now and go to your pantry. Close your eyes and pick up anything in there. Read the ingredients... yep, you are sure to find one of these two ingredients. Again, let me say I HATE SOY!!! So, now onto an extremely restricted diet for me. I will be eating alot of plant fat sources so I don't loose too much weight and so my milk can be nice and fatty for Dominic.
OK, next... we told him we thought his sphincter on his rectum was too loose, cause constant stooling. He said "no, that is impossible, it is from diarrhea from the milk and soy." Then he went ahead and took a look, and lo and behold, yep, it's too loose (apparently he doesn't know Dominic... he has a way of tricking doctors). So, his muscle tone is low, causing it not to close all the way, and during the rectal exam he found the internal sphincter is not in the correct place (awesome... again). To verify this, they have to do a test where they put him under light anesthesia and apply an electrical current to his muscle to see exactly where it is. If it is in fact in the wrong position, it will need surgical correction if we ever want Dominic to be continent (which we do!). So, yes, we have stuff wrong from the tip of our tongue down to our butt... again, awesome. The good news is that this doc will also piggy back onto another surgery, most likely the one where his testicles are brought down. The dietitian came in after that and said how lucky we were to have this doctor. She said he is world-renowned... and I agree, I am so happy to have him. I love his accent (he is African), his brains, and his bedside manner. He spent ALOT of time with us and explained everything very well.
The dietitian is keeping Dominic on his current feeding amount because his growth velocity is right on. He has gained weight and caught up to where he is supposed to be since he has gotten home (it's that healing environment). She said she will help us learn how to blend real food for feeding at the next appt (in 3 months)... YEAH!! I am so excited about this! I refused to feed my kid canned food... I'm so happy to be able to give him real food, just like every other member of the family!!
OK... now that your brain energy for the day is spent, I will stop there. You can blame it on me if later today someone is talking to you and your eyes glaze over b/c you have spent all of your brain energy on this blog post. We are going to the cardiologist today so I'll post about that tomorrow. Until then...
In Jesus and Mary,