• 1: Home
• 2: MPS Diseases
  • 2.1: Overview of symptoms
  • 2.2: Overview of treatment
  • 2.3: Which are the MPS Diseases
    • 2.3.1: MPS I
      • 2.3.1.1: Lauren's Story
    • 2.3.2: MPS II
    • 2.3.3: MPS III
    • 2.3.4: MPS IVA
    • 2.3.5: MPS IVB
    • 2.3.6: MPS VI
    • 2.3.7: MPS VII
    • 2.3.8: MPS IX
    • 2.3.9: ML I
    • 2.3.10: ML II and III
    • 2.3.11: ML IV
    • 2.3.12: Fucosidosis
    • 2.3.13: Mannosidosis
    • 2.3.14: Sialic Acid Storage Disease
    • 2.3.15: MSD
    • 2.3.16: AGU
    • 2.3.17: Winchester
    • 2.3.18: Geleo Physic Dysplasia
  • 2.4: Personal stories
• 3: Fabry Disease
• 4: Advocacy Support
• 6: Fundraising
• 7: How Your Money Helps
• 8: Research
• 9: Information Resource
• 10: Kids Section
• 11: Events
• 12: Childhood Wood
• 13: Latest News
• 14: Downloads
• 15: Contact Us
• 16: Register a Sufferer
• 17: Become a Friend of MPS
• 18: LSD Collaborative
• 19: International Contacts
• 22: MPS House
• 27: CRB Checks
• 28: Links
• 29: Site Map
• 30: Terms and Conditions

We first heard about ERT in 2003 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 back in March 2001 which unfortunately had been unsuccessful so we had resigned ourselves to the fact that there was nothing more that could be done to help her. We went back to Cornwall full of hope and optimism that we would soon be able to start the treatment.

As many people are aware, funding for ERT has been a bit of a postcode lottery and as it turned out our local 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 etc. 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. Lauren is PEG fed and since she had her gastrostomy, her stoma has never really healed up and has always leaked and been a problem. We tried numerous types of MIC-KEYS to see whether this would help, we saw consultants and spoke to several hospitals around the country to get advice but by the end of last year her MIC-KEY was popping out up to four or five times a day. Added to the problem was the fact that she had been screened and come back as having MRSA around the site. Lauren has most of her nutrition via her overnight feed and after her bolus feeds during the day she had to lie down otherwise her feed just poured out from her site.

Lauren attends our local mainstream school and we have been very lucky that they have worked with us to try and overcome these problems and keep her at school. By now though they were getting extremely frustrated with the situation from Lauren’s point of view and the apparent lack of a solution. None of the staff who look after Lauren are medically trained but they were willing to learn and to help Lauren and sort her out every time the MIC-KEY came out.

Last autumn our consultant told us that as from April this year 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 Dr Wraith in April this year because we had reached a point where we didn’t know what to do next. He, along with Dr Jardine, 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 is 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 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 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.