Update on our son's progress

I reached out to a lot of folks offline in the past year and appreciate all the feedback we got. This community is awesome in sharing so much knowledge and experiences.

We have been using Vanco ANI brand 3x500mg per day from April 2019 but the LFT hasn’t normalized yet. My son is completely asymptomatic apart from abnormal LFT. MRCP from Feb 2020 shows both intra and extrahepatic dilations almost became normal (with 50-100% improvements) for the age group compared to results from one year ago in Feb 2019, which is a significant improvement. All of the hepatologists we talked to suggested that the overlap of AIH might be the reason and asked us to start Prednisone along with Vanco. Because of the COVID-19 and the suspicion that Prednisone might have caused some issues in late 2018 we pushed back and asked for further confirmation before starting steroids. (FYI: We had Wilson’s diagnosis in 2018 and he didn’t respond to medication and after starting prednisone we believe he deteriorated a bit and that led to PSC/AIH/IBD diagnosis after MRCP/Endoscopy in Feb 2019. Wilson’s diagnosis was removed when PSC/AIH/IBD diagnosis was established.). Luckily, hospital rules were relaxed a bit in April/May and we did liver biopsy a couple of months ago.

To our surprise, the liver biopsy showed no indications of AIH or PSC and shows high dry copper levels pointing back to Wilson’s disease. But to throw more complexity and ambiguity, the 24hour urine copper levels became normal which doesn’t happen for Wilson’s patients and that too without taking any medication. Even in Feb 2020, this level was elevated and the only change was to add Urso in March along with Vanco. The reason to add Urso was GGT kept trending up into 600+ and LFT’s are trending down ALT/AST/ALP/GGT(71/46/419/156) now. Some doctors want us to start Trientine for Wilson’s while others don’t agree its Wilson’s disease.

Now we are taking urso + Vanco now for PSC which he doesn’t seem to have anymore, everyone suspected AIH but biopsy doesn’t show that. We tried Trientine for Wilson’s earlier in 2018 with no improvements in any numbers. We are in a tough place on what to do next from here. We have met a Geneticist and she is willing to do Exome sequencing for further investigation and hoping that will provide more insights. With all this, my son is completely asymptomatic and doing well.

For now, we are leaning towards continuing urso + Vanco at-least a couple of months to see if GGT normalizes. We are unsure to add Wilson’s medication at this time and hoping to meet with Wilson’s specialist to get some confirmation and feedback.

What a roller coaster ride. I hope you all get some clarification soon.

It reminds me my story started 2006. Go and back, still no firm diagnosis. Good luck.

Thanks Jeff.

Hi Ozgun,

I remember your story from a while ago and would say similar like yours. Doctor’s haven’t checked the lipid levels for my son yet and we recently asked for it. I sincerely hope you will get some answers soon and its really challenging to know something is wrong and not knowing exactly what is wrong.

We have a similar story. In short, my son was very sick, bleeding from the bowel, ulcerations, LFTs deranged and he was very sick looking and extremely fatigued when he was first diagnosed. He was on a stimulant medication for about 10 months when this all happened. He was diagnosed with small duct PSC and ulcerative colitis. He came off that medication.

After tracking his bloods for a couple of years with the help of an immunologist, he has absolutely no symptoms of ulcerative colitis and is not on any medications. Both his LFTs and his bowel inflammatory markers increase if he takes any stimulant medication as well as a couple of other medications. We have done it using a pre blood test, a during blood test and then a follow up after ceasing whatever medication we are testing and LFTs and bowel inflammation immediately goes to normal except GGT which is slower to come down. No one can explain this to me. If he stays off everything, he is extremely fit, well, energetic and has no symptoms at all. No one is willing to explain these observations which have been done under medical supervision i.e. it’s not me making it up.