Isabelle’s story
At first glance little Isabelle is a perfectly normal smiley little girl, sitting on the floor playing happily with some toys.
But she doesn’t seem to move about very much and she clutches a strange orange coloured object to her ear for most of the time. The object makes a buzzing noise and Isabelle’s mother, Miranda explains that it is a hand massager, designed for elderly people to get their arthritic hands moving in the morning. But to Isabelle this is a comforter – because she cannot see or hear - so touch and feel are very important sensations in her life. The vibration from the massager calms and soothes her, in her own little world.
Delightfully pretty in pink with blond hair in bunches, she is incredibly cute and it is difficult to imagine that the disease she has, Infantile refsum syndrome, will end her life before she has time to grow into a beautiful young woman.
There had been no indication during Miranda’s pregnancy that there was anything wrong at all but this is where refsum syndrome is so cruel – there are no obvious signs until the child is born and in this country there is no test for parents who want to try for another baby. The condition is the result of two recessive genes, one each carried by Miranda and her husband Ben – and there is a one in four chance another baby may have the same disorder.
When Isabelle was born they knew immediately that something was wrong, Miranda said she looked “strange” and doctors initially thought it was Downs Syndrome but tests proved negative. She was feeding well and the “floppy” hands and feet she was born with, seemed to improve. When Isabelle failed a hearing test, doctors thought it might be glue ear and actually discharged her at four months as a normal child.
But when she went back to the audiologist, at six months old, he noticed she wasn’t “tracking” objects – she had stopped looking at things but seemed to be craving to see light. Following a visit to an ophthalmologist at ten months old, the couple discovered that she was not only deaf but was blind. Although she had been doing well up to the age of nine months, sitting up and “babbling” some words, she was not gaining weight so further tests needed to be done. After a visit to a metabolic clinic at a year old, she was diagnosed with Infantile Refsum disorder.
Initially Miranda and Ben were told she was at the good end of the spectrum but have now learned after more tests that she has not actually made any physical progress since she was nine months old. She has sclerosis of the liver and her doctor now says she is the worst case of the disorder that he has seen.
There is not necessarily a correlation between symptoms and life expectancy but the doctors thought three or four years would be the longest they could hope for.
Miranda was very torn between the job she adored as a teacher as a primary school teacher and being with Isabelle.
Initially she had gone back to work part time because she felt she would be letting her pupils down if she didn’t but she also knew she needed to spend time with Isabelle. Miranda said at this stage she hadn’t really accepted what had happened. “I just wanted to be like everyone else, just wanted to be normal like my friends who had all had healthy babies.”
After a dreadfully difficult year trying to juggle work with care, dealing with Isabelle’s deteriorating condition which included seizures and breathing problems, she made the decision to resign. “You had to sit up with her all night and it became just unbearable. Then you would have a good period when she was just a little sweetheart – but because she can’t see or hear, you have to keep her occupied all the time.”
I can go back to teaching but won’t be able to replace time with Isabelle.” She left her job in November 2005 to spend every day with her daughter.”
They had by this time been introduced to CHASE however, which proved to be a real blessing. Miranda says she takes Isabelle to Little CHASERS every month and leaves her in the capable hands of the CHASE care team overnight – giving her and Ben some precious time to themselves.
Being at home all day every day with Isabelle is not easy so trips to Christopher’s are very important. “I do get lonely during the day. Last week I definitely had cabin fever! But Isabelle loves the pushchair and we go round and round Wimbledon Park which is near home. She loves the movement.”
“The isolation is difficult to deal with – particularly being cut off from my group of good friends who also now have young children. I cannot see them with Isabelle because she gets very upset with other children around and they don’t understand. If they take her toys she gets very frightened and distressed and I am always afraid she will get bumped or hurt, or catch something from them which is dangerous because she is so vulnerable - so I don’t see my friends any more.
“I do feel that I now live in a bubble world because I cannot see my friends with their children during the day.”
On the other hand, at Christopher’s she has been able to strike up new friendships with other mothers visiting the hospice - one young Mum particularly has become a really good friend.
Miranda said you could feel sorry for yourself but when you go to Christopher’s and see the level of disability and distress suffered by other children, you realise that you are actually, lucky.
“Initially I felt a bit guilty leaving Isabelle there but then you see her doing things that I cannot offer her at home like music therapy which makes you see things in a different light and realise that she benefits from being there.”
Miranda hopes to be able to get Isabelle into a special nursery school in September. “I will go with her as a volunteer.” Being able to go out and meet other parents near home, along with the home-from-home support she receives from CHASE care team members and visits to Christopher’s, Miranda knows things will be more bearable from now on.
Miranda says CHASE does a fantastic job helping families. She says it is not that well known that children’s hospices receive no government funding which she believes is a very poor show. “CHASE has to raise £3 million a year to make sure the service continues for families.”
Miranda and Ben want to have another child are not prepared to take a chance on another baby having Refsum disorder. Although there is no test in the UK there is hope for them overseas.
Because the recessive genes in Miranda and Ben, as well as Isabelle have been identified, there is now a test they can have, which has been developed in Brussels* and they have managed to get on the list for specialist IVF treatment there.
Miranda will be monitored in the UK and will fly out to Brussels with Ben when doctors here tell her the time is right. Her egg will be removed and fertilised in a test tube. When that embryo is just five days old, doctors will remove ONE cell - and from that one cell, will be able to tell them whether or not the baby will be healthy. If so, they will re-implant the fertilised egg.
Miranda says she doesn’t feel unlucky to have had Isabelle. “It is such a waste of energy to say why us. I just feel so lucky that we will have the chance to have a healthy baby. It was a real shock when Isabelle was born – but before she was diagnosed I already felt that we had just “borrowed her” for a while.
She is completely in her own little world – we call her our little “cling-on” because she does cling on to us and is so completely dependent for everything.
* This test is also available in Chicago.