Emily (MPS I)
Emily has MPS I Hurler disease.
Emily was born in 2008 to two very happy and proud parents, Nev and Gayle. When she was born the standard new baby screening tests were used to assess how Emily was. All was fine except that they picked up on a hearing problem with her the day after she was born. She was then referred to the Audiology department at our local University Hospital who, after several hearing tests, determined that Emily had glue ear and moderate hearing loss.
At 6 months old Emily was admitted to hospital to have grommets fitted to drain the excess fluid in her ear canal. After this she was then prescribed hearing aids to wear, lovely pink and glittery ones. It took at least 6 months for her to get used to them as she kept pulling them out and putting them in her mouth!
Emily was 1 by this time and although she wasn’t doing everything a 1 year old should have been doing we were not overly concerned as we thought due to her hearing problem she was slightly delayed in her progress. By 18 months old Emily was walking around the furniture with the use of her walker, but not of her own accord.
Emily wasn’t saying many words and our GP referred her to a Paediatrician. We had our appointment in May 2010, Emily was 22 months old. We will never forget this day as it was the first time we were introduced to MPS and consequently Emily’s condition of MPS I Hurler. This was our darkest day as we were not expecting anything so severe to come out of the appointment. Emily had been taken to the appointment by her mum and Nan – as Emily went to her Nanny’s to be looked after when her mum was at work. We thought the appointment would advise us what could be done to improve Emily’s communication and mobility and it made sense for her Nan to be present. The paediatrician examined Emily and did a few puzzles with her before presenting the bombshell, Emily has a condition, mucopolysaccharidosis. At this point we were advised that Emily wouldn’t live to adulthood. Our world had now turned upside down. After this we had to wait several weeks for the results of her blood and urine tests to determine which of the MPS diseases she had.
In mid June we had the appointment through to go to Birmingham Children’s Hospital where we were to meet with the specialist consultant. It was an appointment we were never going to forget as this was our turning point. Although the consultant did confirm our worst fears that Emily had MPS I Hurler, he then surprised us by advising that something could be done and all was not lost. He advised us that Emily could have a Bone Marrow Transplant (BMT) to improve her quality of life and life expectancy itself. He also advised she could receive Enzyme Replacement Therapy (ERT) up until the transplant.
We left this appointment with hope in our hearts that our little girl would be with us for much longer than we had first feared. We spoke to all of our family and it was unanimous that we should give Emily the opportunity by having a bone marrow transplant. Once we made the decision everything moved really fast. Within a few days we were back at the hospital so Emily could have tests and also her first ERT. We then went back every week so that she could have ERT up until her transplant which was scheduled for September. As the weeks went on we noticed how Emily began to improve in her mobility and by August she was finally able to walk on her own (somewhat unsteady).
On 6th September Emily was admitted to the hospital where, along with her mum, she was to stay for nearly 4 months. Unfortunately Emily’s first transplant didn’t take so on 27th October she was given a second one. It had been a rocky road up until that point as she had suffered with the affects of the chemotherapy and had been having breathing problems where she had ended up in the Paediatric Intensive Care Unit.
Just under two weeks after the second transplant Emily’s neutrophils started to pick up. We were so excited it was just what we had been waiting for after all this time. We were finally seeing the signs that Emily was getting better. Little did we know that this was far from the truth and a week later Emily was back in Intensive Care after a rather horrific Friday night where, after a week of requiring more oxygen, she finally succumbed to the struggle and had a respiratory arrest. The nurses and doctors were fantastic and did so much for Emily.
She was quickly sedated and on a ventilator for two weeks. In this time the fluid that had built up in her lungs started to reduce and her oxygen requirements via the ventilator started to reduce also. By late November Emily was taken off the ventilator and was awake. It was such a relief that she had made it through. Our little girl was so strong and brave.
It took another month before Emily was well enough to go home even though her neutrophils were picking up and the transplant was starting to work her time in Intensive Care had delayed her recovery. She had been on so much morphine that it took two weeks for her to get it out of her system. It must be said that the other thing that helped Emily through her entire time in hospital was Peppa Pig! We had 10 DVDs and she watched them constantly. It was her escape, even the nurses got to know what Emily’s favourite programme was.
We finally came home on 18th December, it was fantastic to finally arrive outside our house that we hadn’t seen since September, covered in snow, a week before Christmas. Emily even recognised the house as when we pulled up she said Yay! and had a big smile on her face.
Since getting home Emily’s progress has been amazing. During January she was starting to get her strength back. Due to her low immune system she didn’t go anywhere except to hospital for her treatment and appointments with the Oncology clinic. By mid February Emily was back at her Nanny’s whilst her mum had to go back to work and since then she has come on in leaps and bounds. She can now walk on her own, she isn’t able to run yet but she is definitely trying. She is also saying a few more words; ooze for shoes, tree, car, doggy, which we think is fantastic. She understands so much, she just struggles to communicate. Her hearing has also improved, whereas before she could only hear 40db and above she can now hear as low as 30db. She still wears her hearing aids as they will help when she is learning to pronounce words.
Our life since last May has been a roller coaster of emotions and events. We have had a few lows but more recently the highs outweigh this. Emily is such a beautiful, happy and affectionate little girl. You would never know what she had been through (except for her appearance (her hair is growing back lovely), she’s so animated and still loves Peppa Pig (mum thought we may have seen the last of this as she definitely overdosed on it in hospital).
We know how lucky we are to have Emily and also appreciate how different things would have been if the treatment was not available for her. We know we still have a long way to go with her but every day is a blessing and we would never change any of it. We find it so encouraging to hear of other children with Hurler disease who are doing so well and are in school, college, etc. This gives us so much hope and we really appreciate all the work that the MPS Society does.