Lauren (MPS I)
Lauren has MPS I Hurler disease.
We first heard about Enzyme Replacement Therapy (ERT) while attending our local clinic. Prior to this it was something that we had heard of but didn’t really know anything about. Lauren had undergone a Bone Marrow Transplant (BMT) back in March 2001 which unfortunately had been unsuccessful. We had resigned ourselves to the fact that there was nothing more that could be done to help her. But now we went back home, full of hope and optimism that we would soon be able to start the treatment.
Funding for ERT has been a bit of a postcode lottery and as it turned out our local Primary Care Trust (PCT) was not willing to fund it. We were lucky in the fact that our consultant did everything for us, approaching the PCT and putting forward our case. As time went on we put it to the back of our minds as Lauren was doing remarkably well and we didn’t feel the need to push it forward any faster.
Eventually though the inevitable happened and things started to deteriorate and Lauren is now fed through a gastrostomy with which we have had many problems with infection, including MRSA.
Lauren attends our local mainstream school and we have been very lucky that they have worked with us to try and overcome problems associated with the gastrostomy and keep her at school.
It was then that our consultant told us that funding for ERT was to be controlled centrally rather than locally and not to give up hope as it may work in our favour.
We requested an appointment to see a specialist because we had reached a point where we didn’t know what to do next. He, along with our consultant, examined Lauren and told us that our only hope of getting her gastrostomy problems sorted out was ERT because her liver and spleen were so enlarged. They decided to put Lauren forward to the Funding Panel as a special case as she didn’t meet all the criteria for the treatment.
We finally heard that they had agreed to fund Lauren’s treatment for six months. We were overjoyed and frantically phoned around our families with the good news. The treatment was to be done at our local hospital, which was an added bonus as there is no travelling involved each week.
Immediately prior to commencing the treatment Lauren was spending most of her time, when not at school, lying down watching videos and looking at books. She used to be able to bottom shuffle around but was unable to do this anymore. Sitting up for any length of time would mean her clothes would be saturated from her leaking stomach where the gastrostomy was fitted and she was also finding it increasingly difficult to support herself, especially her head. When sitting up she was bent over and very unstable. Her stomach was extremely distended and solid to touch and her stoma was enlarged and stretched. She was often irritable and didn’t like to be moved around or have her clothes changed. She found it very difficult to hold anything as her fingers were very clawed and her grip was weak. Her limbs were stiff and at times we think she must have been experiencing a lot of discomfort. Our once cheerful, smiley little Lauren had gone.
By the third infusion of ERT her stomach was visibly less distended and the doctor said that her liver and spleen seemed to have shrunk. After her fourth week she was bottom shuffling along the carpet, something she hasn’t been able to do for a long time. She was also sitting unaided on the floor to do a jigsaw and trying to sit herself up from a lying position.
So far the changes we and other people have noticed in her are amazing. We would never have expected such changes in such a short time. Her fingers aren’t as clawed and stiff, she is able to grip things much better. Her gastrostomy site is much better but it is not something which is going to sort itself out overnight. Generally she has much better movement in all her limbs and doesn’t seem to be as uncomfortable. She is back to singing her nursery rhymes and is much happier and contented in herself. For the first time since her brother was born nearly 2 years ago she is able to sit up and play together with him. All in all she is a very different little girl.