We got back yesterday tea time from a busy couple of days at Great Ormond Street.

It started with an early start on Wednesday as we had to get up to London by 10.00 and to check in on the Kingfisher Ward by 10.30. As she was having a general anaesthetic she was not allowed to have anything to eat after 7.30 that morning. We therefore gave her a morning bottle at 6.30 and then she had her breakfast just before 7.30. We knew the day was going to be even longer with a hungry child, and she, like the rest of us can get very stroppy when hungry.

The first appointment was at the Neurophysiology Clinic where a nerve conduction study was carried out. This is basically small electric charges being administered to Anabelle's hands and wrists. The Doctor explained that this would distress her so there was no point pandering to Anabelle and got it over as quickly as possible. He did this extremely well and it was soon over, with the crying stopping shortly after. The good news from this is our little one has no signs of Carpel Tunnel, a symptom of MPS. Big Box ticked.

Back on Kingfisher Ward whilst waiting for the Anaesthetist, Michelle from Physiotherapy came up and checked her out through play. This was an hour that Anabelle loved and it was good to see her laugh and play. The summary from this was that she was hyper mobile and extremely flexible in her hips and legs but slightly tight in her shoulders. The hyper mobility is actually down to her as a person and nothing to do with the MPS or its symptoms. We were also relieved that she will not require surgery for her left foot and that stretching exercises should gradually correct this.

Waiting for the scan

The Anaesthetist saw her early afternoon but required a Cardiology spot check before she would administer a general anaesthetic. Anabelle's appointment for this, though, is not until 18th May 2012. A Doctor from Cardiology however came up within 20 minutes and performed a check on Anabelle's heart with an ultra sound machine. This is similar to the ones that are used on pregnant women. The Cardiologist gave the okay for the general anaesthetic. He was happy with what he saw although she had a slight bit of leakage. We were told that this is not unusual for kids with storage disorders and there was nothing to be concerned about. After this we were taken down to the CT Scan room where gas was administered to Anabelle to send her to sleep. Leanne wanted to hold her whilst this was carried out and it was naturally very distressing to see Anabelle fighting against the gas mask whilst gradually going under. We were told it the whole procedure of inserting the cannula in doing the test and getting her to recovery would take about half an hour.  We decided whilst waiting to pop over the road to Starbucks for a medium coffee (I refuse to use the word grande!!!). It was less than five minutes later however when we got to the recovery room where she was fast asleep in the arms of a nurse who seemed to be enjoying the cuddle!!
After she had come round and had eaten and drunk some liquids we were all discharged and headed over to the Patient Hotel for the night. We had been given one of the apartments within the hotel. This actually was a nice treat with our very own London Pad for the night!! We didn't really make full use of it though as we had something to eat, watched a bit of telly and were in bed for half nine!!!

Doing time!!!

The next day we checked into the Kingfisher Ward for 9.00 for Anabelle's ERT. We are now old hands at this and by two o clock this was complete and by half five we were back home in Portsmouth. Anabelle throughout this had been an absolute little star, even though it has been a heavy couple of days for her.

We need to say that although what Anabelle has is a rare illness all the people treating her at Great Ormond Street Hospital are not just experts in their own specialist fields but are also experts in how their own fields are affected by MPS Symptoms. We really could not be in better hands.
We are also receiving additional care at home in Portsmouth and on the Friday afternoon have a Multi Disciplinary Assessment where the Child Development Centre are going to offer help and assistance with her developmental skills.

On a final note for this blog Terrie, Paul and myself have entered the Great South Run ( I need an excuse to get rid of my beer belly!!) for the MPS Society and will post more details later.

Hi all. Again late I know. We have decided we will travel by train to Great Ormond Street every week and have bought a family railcard. this means we need to buy a child's ticket for Anabelle as well as ours. Even though she does not need a ticket to travel it actually works out cheaper than just buying two adult tickets. We also walk from Waterloo to Great Ormond Street and take sandwiches rather than buying expensive Upper Crust rubbish. These changes are saving us about £50 a visit. Having to think about money is something we have not had to do for a very long time, but it wont hurt us.
We arrived on Wednesday morning at Great Ormond Street to a busy Kingfisher Ward. Anabelle was soon given her pre-meds and the cannula fitted. It was second time lucky this time. The man with the light was away so the nurse had a go a using this light!!. The infusion went reasonably well and Anabelle even slept through part of it, something she had fought against on the two previous occasions. We are still waiting to hear from the Bone Marrow Team. We were naturally concerned about not hearing from them but have been put at ease by being told that this is nothing unusual. The infusion and the waiting period finished at around six thirty so we decided to get a train home that night as opposed to staying at the Patients Hotel. We finally got home about nine thirty so just over twelves hours door to door and managing to sleep in our own bed, result!!.
We have a busy couple of weeks ahead of us though with the following tests being carried out on the following dates.
25th April 2012  Nerve Conduction Study, Neurophysiology Clinic, Great Ormond Street Hospital
25th April 2012 CT Scan under General Anaesthetic, Kingfisher Ward, Great Ormond Street
26th April 2012 Enzyme Replacement Therapy, Kingfisher Ward, Great Ormond Street
27th April 2012, Multi Discipline Assessment, Child Development Centre, Portsmouth
2nd May 2012, two visits to the Ophthalmology Clinic, Great Ormond Street
2nd May 2012, Physiotherapy, Great Ormond Street
2nd May 2012 Enzyme Replacement Therapy, Kingfisher Ward, Great Ormond Street
9th May 2012, Enzyme Replacement Therapy, Kingfisher Ward, Great Ormond Street
17th May 2012, Enzyme Replacement Therapy, Kingfisher Ward, Great Ormond Street
18th May 2012, Cardiology Clinic, Great Ormond Street

After this she will only require a ENT as well as weekly ERT up until the Bone Marrow Transplant. Our biggest fear amongst these tests is the General Anaesthetic required for the CT Scan. This is mainly due to greater risks for MPS sufferers under anaesthetic.
She has now had three sessions of ERT and it is noticable how active she has become. She is no longer content to sit and clap but has turned into a wriggling little gem, I'm sure it wont be long before she is walking.
 On a final note a big thank you to those who have left comments, they help us a lot. Many thanks.

Hi, a little bit late this week, sorry about that. We came back to Portsmouth today after Anabelle's second transfusion yesterday and we can honestly say that it went extremely well and we feel a lot more positive about the whole thing.
We went up to Great Ormond Street yesterday morning and because of the time we chose to use the train and a taxi (I know pushing that boat out!!).

Enjoying the pre-meds

The Kingfisher Ward (which is where she gets treated)was very busy when we arrived but it wasn't long before Anabelle was shown her bed where she would get her treatment. The Enzyme treatment (Aldurazyme) which is extremely expensive, (we believe a few thousand pounds a go), is prepared only once we arrive to ensure that Anabelle is fit for treatment. After having her pre-meds and having the cannula fitted to her ankle, (first time success), the infusion began at about 12.40. By 4.30 it was complete. The whole day was very easy and straight forward from beginning to end, the transport was great, the hospital was great and the nurses were great. We left feeling so much more positive and actually started discussing the future, something we have not done for a while. We appreciate that this is still at the beginning of a very long road and that there will be good days, such as yesterday and also not so good days, which we are doing our best to be prepared for. We haven't heard from the bone marrow team yet but we have started getting appointments for her baseline tests. Two ladies from the Physio team came in to see Anabelle and said that they would be fighting over her!!!
In all fairness we probably could have come home yesterday evening but we had been booked into the Patients Hotel and it was safer to be around in case of any reaction to the treatment. As we had a couple of hours to kill before tucking in we popped over to a local establishment called The Swan where we sampled the fish and chips and had a couple of pints. Anabelle charmed the clientele around us, but that goes without saying.

Enjoying The Swan

Also enjoying The Swan

We have now come back to Portsmouth after spending a couple of days up in that there London for Anabelle's first round of therapy.

We arrived at Victoria by coach and decided to take a walk to Great Ormond Street. We had plenty of time before we needed to be there and the route would take in the sights of London. This was semi enjoyable as the hoards of french school kids constantly blocked the pavements, however if you push a pushchair straight at people, they soon get out of the way.!!!

Anabelle having her infusion

We checked in at the Patients Hotel which was very comfortable, beds-check, tv- check, en suite-check, tv-check. It also had a communal kitchen and play area, you really couldn't fault it.
At 9.30 the next morning we arrived at the Kingfisher Ward. Anabelle was weighed which made her cry, and she pretty much cried for the rest of the day, bless her!! She was due to have her CT scan done at 10.00 but unfortunately this didn't happen. Due to the fact that she moves around a lot she will require a general anaesthetic. We thought she might go to sleep and then we could scan her, the nurse sung the most impressive lullaby we had ever heard. Anabelle didn't go to sleep but they had to wake us up!!!
After the aborted CT scan we then headed up to X-rays where she had a number of x-rays taken. More tears and screams came from our little angel.

Back at the Patients Hotel
 - Happy at last!!

In the afternoon she had her infusion of Enzyme Replacement Therapy (ERT). Due to her condition her skin is quite tough which made it difficult to get the needle thing(technical term!) into her vein. They had to get a man with a special light (another technical term!) in. this light showed up her veins which enabled the needle thingy to go in. The infusion lasted approximately five hours including the period after to make sure there is no adverse reaction. Through out this period Anabelle did not want to go to sleep so spent alot of the time making sure we knew she wasn't happy.
At about 8.30 we made it back to the Patients Hotel where Anabelle was in surprisingly lighter spirits and cheerfully drank her night time bottle and went to sleep.

We would like to thank the people who have left comments and would encourage others to do so. We are all in this for the long haul so any thoughts would be appreciated.

14th March 2012 was the day our world changed completely. This was the day our beautiful little girl, Anabelle was diagnosed with MPS 1, Hurlers Syndrome.

Anabelle was born on 18th February 2011 by emergency cesarean. She was 6 weeks early and weighed a slight 3 pounds 7 ounces. she was in a Neo Natal Unit for 16 days, she was healthy but needed to learn how to feed. Anabelle was always behind in her development and we had put this down to her premature birth. It was this and also the size of her head that the Health Visitor referred her to a Consultant Paediatrician. At this consultation a urine test was taken which  was swiftly followed by a blood test. Once the results were in we attended an appointment with the Consultant Paediatrician. This was the 14th of March 2012, a date we will never forget as this was the day our world had become a very dark place as our little girl was diagnosed with an incurable disease.

Within a week, however, we had been referred to Dr Vellodi, a specialist at Great Ormond Street. We were told that Anabelle would require Enzyme Replacement Therapy and a bone marrow transplant.
On Tuesday 27th March 2012 we attended the Kingfisher Ward  at Great Ormond Street and had our blood taken to find a tissue match for the transplant. We met Niamh and Victoria who are the Specialist Nurses on the Ward. The first session of ERT is to take place on Wednesday 4th April 2012. From these visits at Great Ormond Street Hospital and also reading some blogs some light was beginning to appear and we feel that Anabelle may have a future after all.


Anabelle in the Neo Natal Ward, QA Hospital, Portsmouth

Anabelle and Halfpint

Making Daddy Proud

Anabelle and "Ellie"