Emily was born May 30th, 2001.  She was a healthy baby, and quickly settled into our family. Her big brother Alex bonded with her from day one.  Emily progressed normally until nearly a year old, but she never slept through the night.  We thought that would come in time, the only concern i had was that although she shuffled on her bottom, she would not try to pull herself up or try to walk.  I could hold her up, but she would bend over and stick her bottom out and try to sit down again.  She thought it was a game.

I mentioned my concerns to my doctor and health visitor and they told me that as she shuffled she may just be a little late to walk.  Emily was fine in every other way.  She ate everything we gave her, used her arms normally and got round quickly enough on her bottom, but obviously could never manage stairs.

By the time she was 18 months, I had again expressed my concerns (as had her nursery) and my doctor agreed to refer her to see a specialist.  We saw him and he saw that her achilles tendons were tight, so referred her to physiotherapy.

We carried on in this way for a while, and i took Emily to physio every week.  She had piedro boots and did improve a little, but hated every minute of it.  She would scream and cry until it was time to go, then as soon as i got her coat, she would smile and wave bye bye to them all!!

While this was going on we had various tests performed.  A "CT" scan, skull x-rays, EEG and lot of blood tests.  Everything came back normal.   Emily had a couple of infections and went into hospital, but with antibiotics she was fine.

The consultant had referred her for a "MRI" scan, but the wait was really long.  We tried everything we could to get it done quicker, but to no avail.

By the time Emily reached 2 years old, she was starting to deteriorate.  We didn't notice at first. ( looking back at her 2nd birthday she was slightly slumped to one side in her chair, but it is only with hindsight that i can see this i didn't at the time)

in July 2003 we went to Mallorca on holiday.  We went armed with antibiotics in case Emily was ill, and loads of other medicines just in case, but she wasn't on any prescribed medication then.  Emily was great on the plane, but the heat was too much for her.  She loved the swimming pool too, but every day Emily woke up soaked in sweat.  All in all it was a good holiday, and i am so glad that we went.

it was while there that we realized that Emily could no longer sit on the floor unaided.  She was ok in a chair, and still ate and drank, but just needed a little support.

When we got home, we saw the consultant again and expressed our concerns. Then the roller coaster really began. We spent two months watching her deteriorate bit by bit until she could only sit when propped up.  Her arm control started to go, she would try to get something into her mouth and miss. she could no longer hold a normal cup, but managed with one with handles for a while until i had to take over and hold it for her.  While this went on we were back and forth to hospitals, trying to get someone to look at her.  We even presented her at A & E and said she has head injuries just to try to get them to look at her.  The registrar we saw was the first person to indicate that if she was falling back from milestones that she had already reached, then it "usually" wasn't good news. 

He still refused to treat her and told us "sometimes children die" - well, you can imagine how i felt at that.

Eventually Emily had the MRI scan, saw a neurologist on the 23rd of September 2003. The neurologist diagnosed a type of Leukodystrophy and he took blood to determine the type.  We went home under instruction not to try to look it up until the results were in.  Naturally, as soon as we got through the door, we went to look it up.

Emily had her NG tube fitted two days later.  By the time the blood tests were back she was in hospital and the doctor had told us he didn't expect her to last the night.  We had her christened in hospital, and everyone we knew came to visit.

The next day she was a little better. Then the results were in - it was MLD.  Emily gradually stabilized and came home 3 weeks later.  For a while she was in so much pain.  Her muscles went into spasm, she couldn't bend her arms or legs and we were in and out of hospital until we got to Birmingham Children's Hospital.  There they changed her meds which stopped the spasms totally.

She stabilized again, and came home December 2nd, 2003 and is still home now.

  So here we are, Emily has so far defied the odds.  I read of other children via the MLD foundation and their stories make me cry, but then we see a glimmer of hope here and there.......and of course, now i have met you, and heard of your research lab (thanks Patti for putting me in touch) and i am daring to hope that just maybe we can have another chance.....

Speak to you soon ,
Helen Hart