Galactosemia and Surgery Update

Yesterday was eventful. I got a call from UAB's newborn testing coordinator for genetic testing. Jame's new born screening for galactosemia had been off (we knew this), and the results from Dr. Simpson's double check and the genetic testing that was sent off to Emory had returned. James has a low level of the enzyme needed to digest galactose (the hospital and Dr. Simpson's test) confirmed the low level; the testing sent to Emory revealed he is Duarte Galactosemic. This means he has one gene for galactosemia and one gene for duarte galactosemia.

The coordinator said that means he needs to be on no dairy for 1 year. After that, dairy will be slowly reintroduced (my understanding is that it will be reintroduced under the guidance of a pediatrician - I am not sure if it will be Dr. Simpson or the UAB genetic peds). The coordinator said that they have never had a duarte patient have trouble after the first year, and the first year no dairy is most precautionary (but considering the complications if too much galactose is in his system, it is necessary).

I checked out the galactosemia website. I am so thrilled that it is not classic galactosemia which has a number of complications even when treated. Praise the Lord!!!!

Also, my follow up appointment with the surgeon was yesterday. I am very tender in my upper abdomen and lower right side of my abdomen. He thinks it is part of the healing processes (I also think the extreme diarrhea I have had since the surgery had contributed to this). He gave me instructions that if I get more tender in the upper abdomen (where the abscess was), I am to call him. If I get more tender in the side, call the gastro.

He also said I am supposed to come back at the first of September so he can check to make sure the place where the abscess was hasn't become herniated.

Other than that, he said I will continue to be in pain off and on for a while. When they removed the abscess, a big space was left. In addition to all the organs returning to their normal place after pregnancy, my organs also have to fill the space of the abscess and heal.

So, I am to continue to take it easy and continue on the healing process. I am betting that since he won't know until September if I have developed a hernia, it will be longer than I hoped before my stomach feels somewhat normal.

The surgeon also put me on the yucky tasting medicine to try to stop my diarrhea (which he had hoped would stop on its own). When he removed 1 foot of my small intestine, it was the part of the small intestine responsible for absorbing vitamin B12 (I will have to be on shots for the rest of my life) and reabsorbing body salts (think the electrolytes like in gatorade). The multivitamin I am on should help prevent any imbalances, but the unabsorbed salts act as a laxative when they hit my large intestine. He said to stay on this until the gastro changes it (if he chooses to).

The funny thing is that the medicine is actually a cholesterol lowering medicine. The diarrhea usage is off label, but the pharmacist said it is common and safe for a problem like mine. So while my cholesterol was previously healthy, I guess in addition to not being trapped to places with restrooms close by, my cholesterol will also be extra healthy.

I am having trouble adjusting to the fact that this is a life-long change for me. I have had what we believed to be IBS for as long as I can remember; however I never thought of it as life-long because most of IBS treatment is eating high fiber foods. The idea of being on medicines for the rest of my life seems weird to me. It is also a little scary to think I will have to be so diligent. I can have trouble remembering to take medicines. I am trusting God to give me a habit of taking care of myself so it doesn't become a problem.