By her Mom Samatha

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 (Oct 2006)

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.