MYO5B

[Mamabear2]

I posted on here awhile ago, my 2yr old sons doctors assumed he had PFIC. Well his gentic testing just came back and the dignoses is MYO5B without MVID which has similar symptoms,but even more rare. My question is, does anyone else have this and how were they treated? We are hopefully meeting with the transplant team on Monday

[Jyden]

Hi manabear

Hope everything will go very well with your son. I dont know the specific type of PFIC he is diagnosed with.

My daughter has PFIC 3

Wish you all the best

[Gemob]

Hi. My daughter has recently been diagnosed with myo5b also. She does have some bowel problems related to mvid but they are milder than typical mvid patients. She had a external biliary diversion and is doing quite well from a liver point of view. I haven't met anyone who's child has the same genetic mutation as her before. If u have any questions or want to connect get in touch x

[Mamabear2 in reply to Gemob]

This is a first for me as well! How old is your daughter? How old was she when she presented symptoms? My Son is super itchy and has been since birth. He had a tube placed in his gallbladder to help drain the bile, similar to the diversion surgery but less invasive. It helped his labs but did not improve the itching. Now his treatment is between the standard biliary diversion or a liver transplant? We are hesitate to to the diversion surgery because it was similar to his other surgery as far as bile output. Do you have other children? I have an 5 month old as well. He seems really healthy, but they are in the process of testing him as well. Sorry about all the questions, I'm really excited to have someone else to talk to about this.

[Gemob]

My daughter is 6. She too was so so itchy. Was awful to watch. We tried the internal diversion first but her itch didn't return. The external diversion was the best decision we ever made. We haven't looked back since. She was a few months old when she began showing symptoms but took a while to diagnose her as she has really bad bowel problems so the originally thought it was bowel disease even though she was itching and her lft were not good. She was finally referred to liver unit just before her 2nd birthday where we were told she has presumed pfic. It was only last Oct they confirmed myo5b. Are you in UK? Which hospital do you attend. I have no other children. Made the decision early on not to as Sofia was too poorly to cope with another. Xx

[Gemob in reply to Gemob]

Her itch did return after the internal diversion... sorry typo xx

[Mamabear2]

I'm sorry it took so long to dignoses her, that must have been so difficult dealing with her symptoms for so long. . Are her liver labs back to normal now? After my sons surgery his bilirubin went down to 2.1. They thought he had PFIC as well too. We live in the US and we go to the Children's Hospital in Philadelphia. I'm sorry, but I definitely understand your decision to not have anymore children.

[Gemob in reply to Mamabear2]

No she has raised alt alp and slightly raised bili although that isn't too bad now. She has vit a d e and k deficiencies and a few other things because of her bowels. .. x

[Hannahailu in reply to Mamabear2]

Hi Mamabear,

What type of PfIC?

We Live here in the US, Ohio and go to cincinnati children’s

My daughter has PFIC2