PCIF

[JessicaMckenzie220]

HI, my six month old daughter, Emi, has recently been diagnosed with pcif this past week. She started scratching herself at 3 months and her old doctor kept telling me it was normal. We then noticed yellow eyes, he still claimed it was normal at her 6 month check up last Friday. So we then decided to get a new doctor and we made an appiontment for Sept. 1st but Monday she scratched her ear and it bled overnight so we made an appointment for that morning (Tues.) at her new doctor who was shocked by her bloody ear that was constantly dripping blood. She then scratched her nose (She scratches ALL THE TIME) and it wouldn't stop either, so they ran labs and called us that afternoon to get to the hospitl as quickly as possible because she suspected she may be going into liver failure from her lab results. We were so scared! They could not get an IV in her for nothing and our poor baby suffered but all the pokes we were then rushed to childeren's healthcare (Egleston) in Atlanta in the middle of the night were they finally got an IV and did an emergency vitamin K infusion. Ran her labs again to confirm the numbers and we were admitted. The doctor came in the next day and told us the news... It is still all so overwhelming and I'm not sure how to take it.. I feel like I should be crying my eyes out and I have cried a few times, but I'm a naturally optimistic person and I feel so bad my husband is in pieces while I'm still content and playing, laughing, and smiling with our little girl. UGGGH! I just needed to get this out there somehow.

[EllaSophia]

Hi

Emi is so cute!, sorry you had such a dramatic start to your journey. My daughter does not have pfic but had Alpha 1 (now fine due to liver transplant)). I know how you feel about being a mum and carrying on as normal. I had my 5 minutes of shock, horror, guilt, crying, screaming then I remembered I am still her mum and I had a job to do. To protect her and care for her the best I could. People never know what happens in hospitals until you are in there yourselves. It's so hard, being away from home but to watch your child in pain or upset is horrendous but that's where our work starts. I just thought if I feel at breaking point what must my child feel like. Our daughter was unusual as she was not diagnosed with Alpha 1 until she was 19 mths. My doctor was fantastic and I trusted him with my life but even he did not see the signs. All the doctors at our surgery said she was constipated badly since her bowel surgery at birth (which she was) but what they thought was poo was actually her massive spleen. They get it wrong sometimes, doctors don't know everything about everything but they should be able to consult others if they are unsure. Really sounds like your doctor has not much basic understanding of the liver. Yellowing eyes at 6mth should have woke him up!.

What you are doing is great, playing etc but you do need to get out the frustration and pain of what is happening. I used to pop to the chapel, I am not religious but it helped me to ask for a miracle and moan when things were going great but we did get a miracle in the end. Ella had her transplant 11mths after being diagnosed. My main lesson learnt was to be an advocate for her, to be strong and learn. I read leaflets, books etc and took it all in. When the doctors came round I then had a little understanding of what they were saying. No procedures were done until I really understood what they were doing. It kept me in control of a tiny part of a situation that was completely out of our control. My daughter also has learning difficulties so even though we have had no liver related issues since transplant I have to be her advocate for her all her life.end So this has stood me in good stead for the future. Having been dropped into the medical situation has made me a much stronger person and mother. Remember to look after yourself too though as well as Emi. Dads are extremely important but i think mum's are the back bone that holds a family in hospital together. I hope everything goes well and you are

home soon.

Take care

Anne

[SGJ2013]

Hi there, I can totally relate to this as my son went through the exact same journey. I really do feel for you 😢 my son is now 3 and is still scratching the same way, at the same age as your daughter we seen the exact same signs with the scratching and the eyes. We also mentioned this several times to health visitor but kept being told it was nothing, probably my soap powder!!! Which I knew was incorrect, so just around the 5 months mark I made an app with the gp who immediately admitted us to the children's hospital as visible signs of liver failure. When we got to the hospital we also had such a hard time getting iv, after 20 odd bloods and several weeks in hospital they could still not diagnose Jack. It took many months before they actually came back to us to tell us what it was. Like your self I am very strong and very rarely cry or get down (likely because if you start you won't stop)

Jack attends yorkhill hosp on a reg basis for injections and also attends Leeds often. He takes a huge amount of medication daily and still to this day has never slept a full night due to itching, my heart goes out to him as he is totally exhausted at times!

He has been on a trial drug from the states for itching but after 50 weeks on it there is still no Benifit.

I know that reply is a bit long but just wanted you to know I have been through the same and still am, so if there is anything at all you want to ask then please do as I know how hard it is to find someone who has been through this with pfic.

Xx

[meaanne]

Hi Jessica,

My daughter has PFIC 2 and I can relate very well to your story. My daughter was also extremely itchy and was diagnosed at five months. However I was like your husband and I fell apart and my husband was strong and became my rock. You being optimistic is the best gift you can give Emi. It's perfectly normal to have different reactions. Some things that may help your husband (and remember helping yourselves is the best way you can help your daughter) 1. Seeing a good psychologist or counsellor, this is huge and you will be dealing with PFIC in one way or an other for your entire life. 2. Connect with other PFIC families the best way to do this is join the Face book group BRIC PFIC and other rare liver diseases facebook.com/groups/6856280... 3.Get the best treatment possible 4. If its hard to explain what PFIC is to family and friends here is a video I made briefly explaining PFIC youtube.com/watch?v=TDTnqnu...(Not working as expected?) 5. it also may be comforting to know there is a drug trialling for PFIC called SHP625 or LUM001 by Shire Pharmaceuticals it is having success in a number of PFIC children however at the moment they are at a stand still due to poor data from other liver diseases but we are pushing to get this drug to market. Also there is an other drug company Alberio in Sweden who are working on a drug for PFIC.

So some other suggestions I have are; insist that your daughter be put on Rifampicin this is going to be your best option of available drugs. For my daughter after 11 days on rifampicin her itch decreased and after a month on the drug it was almost gone, her bile salts went from 500 to 15! She is now considered to have BRIC which means she has a version of PFIC that comes and goes. However I must point out this is not common most children will see a reduction in itch but its rare for it to go. Also I would be very pushy about finding out what type of PFIC she has 1,2,3 and no they have found a 4th type. This can be found via liver biopsy but sometimes to be certain they need to do genetic testing. A good tip if your daughter has a liver biopsy ask/insist they take some blood while under general anaesthetic for genetic testing. This way she will not have to have extra bloods and go though the pain of it. Also it puts you in the best position for genetic testing. Genetic testing can take many months.

I have spoken to a few liver parents and they have all dealt with it differently, you sound like you are doing really well considering what has happened in the last week. Good on you for reaching out! Thinking of you and your gorgeous Emi!

[Aly123]

Hi there,

My daughter is now 8 years old and has pfic(type1). We went through the same thing as others, she kept crying when she was about 4-5 months old and we repeatedly took her to the doctor and hospital and they kept saying its colic! Which I knew it wasn't, then when we took her again the doctor checked her stomach and noticed her liver was slightly enlarged! Any way they took bloods and sent us home (again), later on that night we got a phone call to bring her in the next morning, it appeared she had severe rickets due to vitamin deficiency caused by liver problem, multiple fractures in her body were making her cry. Anyway from that day on things became clear, she was put on medication, and referred to Birmingham Children's hospital. After many tests it took a good few months to finally diagnose PFIC. She did not put any weight on even though we started ng feeding her, constantly sick! Then at about 14 months she had a liver transplant. From then on I wouldn't say it's been a smooth journey but there are bumps on the way, you learn to manage things. She's 8 now and goes to normal school and enjoys life like any other 8 year old! But because she's immunosuppressed, she catches things easily! I just want to tell you, it may seem a long way away, but there is light at the end of the tunnel, and I'm sure you will see it soon! If you want to ask anything else then please do so! I amazed they told you so quick that she has PFIC!!!!! Xxxxxxxx

[Hidden]

Constant itching and bleeding ears sounds very familiar... good on you for pursuing an explanation and diagnosis. It took us months to find out what was wrong - noone's fault, but the diagnosis can be difficult.

It can feel overwhelming at times but well done for continuing to laugh and play too... She is still your beautiful baby girl. I agree seeing a counsellor can be extremely helpful as a way to explore all those thoughts and feelings in a safe place without worrying about upsetting your daughter.

Good luck, thinking of you all

[Hidden]

Hi Jessica please have a look at our site childliverdisease.org/ we are a charity based in the UK and although we only cover the UK you can look at stories or download any information that you may need that may be of benefit.

Tom