The preliminary results from genetic test came in Friday....Alex has the crazy rare mutated gene that I posted about.....Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.....impacts intestines.....either badly malformed or nerve and/or muscle function poor or non-existent- in his case the muscle.....he also only has partial bladder function so he will have to self cath.....he is now the 146th baby to have this condition, nation wide, in the past ten years.....it means that has bowels will never work properly.....hard to belive his bad luck.....its like Alex hit the bad Lotto.....about one in 40,000,00.....only good thing is today's medical technology can now manage it- it was a death certificate for babies just a few years ago.....his medical team at UAB told them Alex can lead a fairly normal life with proper care....
They agreed to let Alex take part in an MMIHS research study- means specialists from around the country will be following his development. He is going to be a special little boy.
Its not the mutated gene itself that kills babies....its the fact that their bodies cnat absorb nourishment the normal way and they die of malnutrition without proper care....or they get a bad infection....or the liver is impacted from bile backup....so they are going to have to monitor him very closely- fortunately being RNs, they are trained to handle everything......nourishment device, stomach suction device, and manual catheter of bladder several times a day.
The doctors told them that none of them will probably ever see a case of this again in their careers....john said they sounded excited to have such a rare case study moving forward.....assured them that they and other medical professionals will be there with Alex every step of the way as he gets older.
When John told me the other day, I broke down...but.....after talking more with him and my daughter....they have both done extensive research on this condition, I feel more optimistic....it sucks that this sweet little boy has to face this but it is what it is...they go to UAB Medical next week to have his nourishment device changed out to a smaller one and to change his nutrition.
Alex will never be able to slobber knock RBs into the cheap seats.....he’s going to be the next Steve Job.......G
"Im gonna beat this thing!!!!!!
