P.F.I.C.

The Disorder

PFIC2 (Progressive Familial Intrahepatic Cholestasis, type II) is a genetic liver disorder. As the name suggests, it is progressive which means that it will irreversibly progress to a point where the patient will not survive without a liver transplant. It is a very rare disorder (we believe there are presently about twenty sufferers in the UK). Both of the parents need to carry the mutated gene in order for it to be ‘passed on’ to the child. If both parents have the mutated gene then each child born to them has a 25% chance of inheriting the disorder. PFIC2 normally shows itself in the first few days of life as jaundice, although it can show itself later in childhood. The patient is unable to drain bile from the liver (resulting in cirrhosis). Symptoms can include jaundice, fatigue, severe itching (due to bile under the skin which is not being drained by the liver), poor appetite, poor weight gain, enlarged liver and spleen, nausea/vomiting, failure to thrive, liver cancer, gallstones and liver failure by the early teens. The above symptoms can cause all sorts of other complications, as shown in “Bethany’s Story”. (You need to click anywhere on this text to scroll down, or use the scroll arrows on the left side to read the full story.)

Bethany’s Story

Bethany’s birth was a traumatic one, but once we got home everything settled down and I threw myself into motherhood. During the last visit from the midwife when Bethany was 13 days old she was referred to Dewsbury & District Hospital for standard tests as she appeared to have mild jaundice. We didn’t panic as a lot of babies have jaundice and it amounts to nothing. But once the results came back the doctors and nurses wouldn’t discuss Bethany with us and we were referred to St James’ Teaching Hospital in Leeds. There we were told that Bethany had one of about five disorders, most of which ended in death if the child doesn’t have a transplant, some within a short space of time. That is how we found out about Bethany’s disorder. We spent most of her first year in either Dewsbury or St James’ Hospital. She had an NG tube (a tube in her nose that went down her throat to her stomach) through which we gave her all her medications and a milk supplement which contained broken down fats to replace the job of the liver. So much nourishment was needed through the tube that she was never hungry, and so lost the urge to eat at all. This meant that she failed to understand the purpose of eating, and refused food even when she was hungry. It has been a long, hard process to get her to eat, and even now she is very apprehensive of unfamiliar foods. There were a few moments that were touch-and-go, plus several invasive surgeries needing general anaesthetic. Her body would go haywire for the slightest thing. On one occasion she seemed to have a slight cold and I took her to hospital as my “mother’s instinct” told me something was not right. Within minutes of us getting there Bethany started having fits and her blood sugar dropped through the floor – in fact, the reading was so low that the doctors didn’t believe it and sent it to the lab to be checked (it turned out to be correct). Another time she bit her tongue and her Vitamin K levels had dropped so much that her blood wouldn’t clot so she bled for several days. She had already had surgery to have a Hickman Line put into a main artery in order to get more urgent medication into her faster as a canula couldn’t cope with the amount she needed. (We were told that the Hickman Line was necessary by a ‘phone call from a consultant saying, “Wherever you are, drop everything and go to the hospital – Bethany’s calcium levels are so low that she could have a fit and die.”) The need for Vitamin K was so urgent that the doctors broke off a 20-hour per day regime to pump calcium into Bethany, in order to start the vitamin infusion. I can tell you several other nightmare stories similar to these. After Bethany’s initial health problems you can understand our fear of leaving the house, fearing that if she picked up a minor infection it could kill her. Fortunately after her second birthday her health started to settle a little. We still have to constantly watch her for signs of any illness and I take her to hospital for things that wouldn’t normally worry a parent, as it could be a sign of something more urgent and severe.

The Present

Bethany currently suffers on a daily basis but is such a cheerful and positive child. Fortunately she doesn’t realise that she is suffering and thinks everybody goes through the same so takes it all on the chin. In fact, she has asked, more than once, why other people are not taking medication, as if she’s the normal one! She takes going to the hospital for her injections every three weeks in her stride and looks forward to playing in the children’s ward playroom before treatment. She has an abnormal gait, caused by having had rickets previously and also having an enlarged liver and spleen, which makes her walk with the appearance of a “pregnant” waddle. This affects her balance and movement. She only recently started running but looks as if she is staggering and falls over a lot. She can’t do anything that involves both feet being off the floor at the same time, eg, skipping hopping etc. but she practises so hard and asks us to look at her trying all the time! Bethany has social problems, getting distressed in social situations. We think that a big part of it is connected to her being isolated as a baby and being unable to mix with anyone other than doctors treating her. She had a fear of meeting people as nine times out of ten it was someone who was going to inject or prod her! This is no longer the case and we are trying to help her socialise now by taking her to all the local children’s groups and dancing class. At one time she would scream if someone else was in the room, then she could cope if we were physically closer to her than another person, and now she is a little more relaxed. But she still wouldn’t allow us to leave the room with strangers present and takes a long time to relax within a regular group. We are thankful that she seems to have accepted both the teachers and children in her local nursery, although it did take a while and we do still attend with her in order to administer her medication. She takes a cocktail of medications, which fluctuates between 16 and 20 doses per day, depending on her general condition.

The Future

Bethany will need a transplant to survive past her teens. We know that her condition is going to deteriorate until she gets to a point where her body isn’t functioning enough for her to lead any quality of life. She already suffers from regularly feeling weak and tired which will only progress. Fortunately, because she will need the transplant when she is still a child, she can receive a portion of a liver, meaning that she won’t have to wait for her own donor, but instead have portion of a liver being donated to an adult which will reduce her time on the waiting list. If the need suddenly becomes urgent without prospect of a donor, Tony (Daddy) is compatible as a live donor. It’s funny, we don’t look to the future, we live in the today and try to do as much as possible when Bethany allows, but recently I wrote a letter which included “Bethany will need a transplant in about six years,” and it made me stop and think. She’s already a third of the way there. When I think of her teens it seems like years away, but when I put it in perspective it’s not that far away. That’s one of the reasons that we don’t look to the future but live for the day. I am writing a diary for Bethany, telling her of all the exciting things that we get up to on a daily basis, and I have literally thousands of photographs of her. When she was first born and they told us that there was a good chance she would die soon, we bought a camera to get photos of her. But now that the problem is more long term it’s difficult to give up the ‘addiction’ of taking the photos. We will keep you posted on any update of Bethany.

An Update (June 2007)

Bethany is still attending nursery school two afternoons a week (which will be five afternoons after the October holidays) but now we leave her there and go home. Until recently we stayed for the entire session to change nappies and give her her medications. Now we drop her off at the beginning of the session and go back near the end to give her her medication. Also, she has started to jump, in a fashion! She holds onto an object (she can't do it freestanding yet) and does a tiny little hop, landing very stiff and wooden. Her feet barely leave the floor and it's very awkward but she's so proud of herself as she has spent hours practising. But it's progress and I cried when I first saw her manage it! Unfortunately her energy levels have dropped significantly recently and she regularly asks for a nap or to lay on the sofa. But even though she gets tired she's very enthusiastic about going out to various places and loves to go to play groups, play gyms and shopping. Her stomach is now larger - caused by the enlarged liver and spleen - and her jaundice seems worse. It's very worrying when something worsens as our worst fear is that her disorder is progressing faster than expected. But many of the symptoms come in peaks and troughs so we try to stay positive and treat it as being insignificant unless the doctors tell us otherwise. At her quarterly checkup in June this year it was noted that her platelet count is very low, and they have decided to step up her checkups to every six weeks.

Thanks

I would like to thank our amazing doctor (Dr Susan Dhir, Eightlands Surgery - now located in Dewsbury Primary Care Centre). She has sorted out problems and red tape on more than one occasion and is always ready to listen.

I would like to thank the wonderful staff at Dewsbury & District Hospital. They make us feel like part of the family. Everyone takes the time to know Bethany, not just nurses and doctors but right down to playroom staff and cleaners (or whatever domestic title they have at the moment!) I feel able to ask any question, regardless of how small or insignificant and it’s amazing how much of a difference it makes to feel comfortable with Bethany’s care givers.

I would like to thank St James’ Hospital, and everyone involved in the process of being on the ward. The nurses are friendly and they are honest with details. I would hate to think that someone was trying to soften the blow by not telling us the full story and I have always felt that they have been able to tell us the bleakest possible outcome without terrifying us! I would especially like to thank “Auntie Jo”, (Jo Richmond - Speech & Development) who has provided tremendous support and encouragement, particularly with regard to Bethany’s diet.

I would like to thank the charity “The Sick Children’s Trust” for being there at the exact time we needed them. They provided us with a place to stay in the hospital grounds when Bethany was at her worst. I stayed on the ward with Bethany overnight but with the constant check ups and worry I didn’t get any sleep. Tony was able to be back on the ward at 8am to let me get some sleep because he was only across the road in the next building in his private room. The Trust gave us a chance to mix with other families in a similar situation and provided a friendly atmosphere. Nothing was too much trouble, and it made such a difference to our sanity at a difficult time. (See the “LINKS” page for their official website - please look at it and consider making a donation).

And last, but not least, I would like to thank our family and friends for all the help we’ve been given so far – long may it continue! Especially for Ben and Liz being on hand for our many emergencies, (they are now terribly missed as they have moved away from the area). For my Dad being the virtual dog-owner when we were away overnight in hospital and for my parents for babysitting duties (someone has to be in the house for Eloise at night if I take Bethany to hospital).

And finally…..

I am ecstatic to announce that, so far, Eloise, our youngest child, shows no signs of the condition. She has regular tests as there is still a chance that, as it is a progressive condition, it could appear gradually. But as it was not obvious at birth it is incredibly unlikely and we are confident that she does not have it.

If you would like to contact me regarding anything on this page, please use the link on the "CONTACT ME" page.