PFIC - Type 1

[NoahsStory]

So, can anyone at all help me understand what is actually going on? My 2 year old son has recently been diagnosed with PFIC Type 1 and everything that you find on the internet is really not good for reading. Is it all bad? He's such a happy little boy who has no idea what is going on. He takes it all in his stride and seems so brave.

Does anyone else have this / advice they can give?

Thank you

[Gemob]

Hi! My daughter has pfic and like you when she was first diagnosed I turned to Google. I wish I hadn't now. Sofia is 7 now and is doing amazingly well. She has a biliary diversion because of her itching and a feeding tube but other than that she's a happy gorgeous 7 year old. Her liver is doing quite well at the moment and there isn't any talk of it goin g downhill in the near future. Feel free to ibix me if you have any questions x

[NoahsStory in reply to Gemob]

Thank you so much for reaching out. What is a feeding tube? At the minute I cannot see anywhere passed the negatives and I know that is horrible to say but it is the unknown I guess. Not knowing if Noah will get worse, stay the same, have a normal healthy life. That’s only ever what we want for our children and to not know if that’s going to happen is crushing.

How is Sofia? When was she diagnosed?

Thank you x

[Sophie246]

As a rule people only write about stuff when it’s bad, like bad food or bad hotels.

So it’s often difficult to find good news on the internet.

Don’t get draw in to negativity, every cases is different, be positive for son.

If he is happy and healthy today go with it, live in the moment, day to day.

Time traveling and thinking what if? are not helpful, because you may be planning for a future that may not exist. Who is to say that we may not be struck by a

[NoahsStory in reply to Sophie246]

Thank you, Sophie246. You are so true but it is so difficult at times. I guess because each case is different and there is no telling what will happen in the future, it is hard to stay relaxed

We have another appointment in a week or so which is his second appointment since being diagnosed so hopefully we will find out more then.

Thank you again

[Sophie246 in reply to NoahsStory]

Fingers crossed for you. X

[MI-grandma in reply to Sophie246]

I will remember that for my 14-month-old granddaughter too. The urso is helping her. Her numbers are improving since she started taking it. Cholestasis has always been mild. She's lively and happy, and continues to grow and develop normally, despite the problems with her liver enzymes.

[NoahsStory in reply to MI-grandma]

That's great to hear! Long may that continue

[Aly123]

Hi, my daughter was diagnosed with Pfic type 1 when she was approx 9-10 month old. She is now 11 year old and getting ready for high school in September! Yes, there have been times that we felt like yourself, not knowing what the future holds and there have also been ups and downs along the way but eventually you do come out at the other end. My daughter eventually needed transplant (which she had at the age of 14 months) and to be honest with you, they still do need care and attention after transplant! PFIC is quite a rare disease, can you imagine, even 10 years ago there was even less on the Internet, it was all stuff written by medical professionals which made it sound a lot worse than it actually is! There is nothing online which gives reports from actual parents/children who have got/had the disease! It's only on these forums that you can interact with others and get messages of support! I hope that you get some kind of positivity from all these replies (including Gemob), and remember your son will be able to do normal things like other children, but he'll be a bit more special😉

[Stacian]

Hello my daughter is 3 and was diagnosed with PFIC 2 when she was 3 months old.... She has had the partial external biliary drain for itching.. We have had some problems along the way recently had our transplant assessment at BCH. She is stable liver functioning as well as it can and she is a happy normal little girl apart from the itching... I am. Happy to answer any questions you have, we are very open about it all... I don't come on here alot but happy to exchange e mails, I am also on Facebook... Hope your all well xx

[Jamiemack81 in reply to Stacian]

Hi Stacian, My son has PFIC type 2 aswell. He is 22 months old and has extreme bother with itching. He is on all the medication he can get and gets vitamin E injections every month as his liver seems to struggle with Vit E more than the others. How is your daughter's vitamin levels? My son hasn't had a partial external biliary drain or liver transplant assessment yet but feel this may not be far away.

Does the partial external biliary drain help the itching? Do you have any problems / difficulties with this?

Also how is your daughters growth getting on? My son although he is almost 2, hes only the height and weight of an average 1 year old and his healthy older brother has been generally been above average in size / weight throughout his infant years.

How do you feel about the whole thing? Part of me wants my son to get a liver transplant ASAP to see him healthy (particularly when hes having a bad day) but the other part of me doesn't want to put him through this major operation.

Any feedback would be appreciated.

[Stacian in reply to Jamiemack81]

Hi there, InAm Sorry to hear about your son. But it is a familiar story. The itching was hurrendous for Molly at this age and she had the drain. Inserted but unfortunately she was one of the unlucky ones and. It did not work. Well for her. To have the drain there must be no sign of cirrhosis to the liver. So this might be something they will Consider. Vitamin. Levels have been and issue also, perticularly vitamin D and calcium.. Molly has fractured her femur twice before she was 2. The levels Are Stable now with injections and Meds. We have been lucky with mollys development and she has never had issues with thriving. As far as Transplant is conserned my husband and I felt the same as You but the assessment was a real eye Opener for us and we actually changed our minds. A Month ago molly had a NasoGastric tube inserted to have cholestyremine medicine as she wouldn't tolerate It orally,. And although we were reluctant to have it it has helped massively her itching has improved greatly. I would Definitely recommend it...if there is anything you would Like to ask my e mail is [e-mail]. I will answer quicker this way

All the best

Stacey