Possible pfic1

[Mamabear2]

Hi,I have a little boy who is 2 now. Healthy labor and delivery but cried all the time. We thought he was colic at first but then around 4mos he started scratching. So we went though all possible allergies and antihistamines. Then at 8 Mos he started to get jaundice and bruising we were rushed to the hospital. Lots of testing, mris, and biopsies. They got one positive test for pfic1 but have yet to find a second variant to dignose him. We just saw a gentics doctor and had xnom testing done (still waiting for results ) he had an external biliary diversion done 2 months ago it helped his labs,but still very itchy ,not sleeping and abnormal liver function. He is struggling to gain weight and have vitamin deficiency. Sorry it's so long! It's great to know their are other parents dealing with similar problems!

[Aly123]

Hi,

My daughter has Pfic type 1, did they also test yourself and the father, normally that also determines Pfic because of it being genetic.

My daughter used to constantly cry and on one occasion the doctor at the hospital did send me home saying it was colic as well!! But she was about 4-5 months and I knew at that age, babies don't really get colic, it normally goes away by 3 months.

Anyway once she was discovered with having abnormal bloods, she, like your son, had all sorts of different tests done. It did take quite a while to diagnose PFIC type 1.

These are the typical signs of PFIC and especially if he has vitamin deficiency please tell them to check for rickets. My daughter used to cry so much because she had various hairline fractures across her body as her bones had become so weak and every time she was picked up, it hurt her.

Anyway, you have a long road ahead but don't worry, my daughter is 9 year old now and doing fine. She was not 'thriving' and was then put onto the transplant list at 9 months and had it done when she was 13 months.

There is light at the end of the tunnel but it's not going to be easy, be strong! You'll get through this!

xxxx

[Mamabear2 in reply to Aly123]

Thank you so much for responding! Yes they just recently took blood samples from my husband and I, it's been about a month since we had that done they said it could take 2 more months before we get the results back.

Thanks, I will have them check for rickets as well. I'm guessing that your daughter didn't respond well to medicine since she needed the transplant so early, but did anything help with the itching ? His is so bad now

I'm glad to hear she is doing well now,it definitely gives me hope. It really been difficult. We are going back to the doctors today, more blood work to check his liver enzymes. He also gets vitiman K shots regularly to keep his blood from thinning out to much.

[Aly123 in reply to Mamabear2]

Hi mama bear!

My daughter did not have itching really bad but I think they gave her ursodeoxylic acid (something like that) you have to keep trying different things but I don't think many things work! Is he on ng feeds? I presume he will be. Which hospital are you in? In uk?

She was put on the transplant list because she was not putting weight on. Even after transplant there are other issues such as chronic diahroea but that's nothing compared to pre transplant!!!!

Hope all goes well for you all!

[Mamabear2 in reply to Aly123]

Yeah we have tried just about everything to help relieve his itching. We just finished a 6 week trial drug,but still no luck. Right now he gets most of his calories from pedisure peptide specificallydesigned for kids with trouble absorbing. He takes in well over 2000 cals a day n so far has done okay maintaining his weight.

We are in the US and being seen at Children's Hospital of Philadelphia

[Joey2008 in reply to Mamabear2]

Good luck, I take my son to Chop also in the USA! Wish you the best and blessings!

[Mamabear2 in reply to Joey2008]

Thanks Joey2008! Does your son have pfic as well?

[Joey2008 in reply to Mamabear2]

No, he has auto immune hepatitis and has cirrhosis as result of that.

[Mamabear2 in reply to Joey2008]

I'm sorry praying

[Hidden in reply to Mamabear2]

Hey Mamabear2, have they placed your son on the transplant list? The itching was unbearable for my daughter. Transplanted at 16 months old. She is 7 now.

[Mamabear2 in reply to Hidden]

He is not on a list yet. We are hoping to be able to do a partal liver transplant by a living doner (,me or my sister in law) we are both his blood type. The itching it terrible! We are still waiting for the gentic testing to come back n hopefully finalize his dignoses

[Hidden in reply to Mamabear2]

I know exactly how you feel. I pray that the results come back quickly. Where are you from? Are you using Benedryl for itching. Helps some.

[Mamabear2 in reply to Hidden]

We are from the U.S.A he is being seen at Children's Hospital of Philadelphia. I actually just a call that his doctors are meeting tomorrow to go over the test results. Hopefully we will be getting a call tomorrow with a definite dignoses. We have tried Benedryl, and a bunch of other antihistamines nothing helps

[Hidden in reply to Mamabear2]

It didn't for Chloe either. But the thought that it did gave me at least some relief she was. So he hasn't been definitely diagnosed with PFIC 1? I so hope they put him on it right away. Philadephia is a great hospital. I'm sure they will hurry it along. I pray. Chloe was listed and 3 months later we got the call. I would of been a living donor but they didn't want to risk having the mother and daughter in healing at same time. She needed her mom. But I would have. Should you ever need any help or questions, please feel free to ask. It's a long journey prior and post but the results after out weigh all else.

[Hidden]

Hello Mamabear!

Your story sounds so familiar.... Sorry to hear all that you and your son are going through. Our son had PFIC2 and the constant itch and lack of sleep were the hardest parts to deal with. We tried all sorts including a trial med; ursodeoxycholic acid, rifampicin... I think the things that helped most were Aveeno cream for his skin - very few additives compared with some other moisturisers - I think it helped cool his skin too though it wasn't particularly dry; cool baths; loose, cotton clothing. One of the mums at the CLDF family conference in September talked about some cotton mittens her daughter had found really helpful overnight.

Ultimately he had a liver transplant just over a year ago and from the day of operation has slept through virtually every night and has no itch at all. Even better, he can't remember being itchy all the time at all, and looked at me like I was crazy when I asked him about it a couple of months after his operation.

It is hard to deal with at the time though, especially if you're not getting much sleep either... You are not alone. Good luck X