Hi, Still going well.
Anabelle is still having the weekly visit by the community team, having her dressings changed, bloods taken and blood pressure monitored.
We last went up to Great Ormond Street Hospital on the 28th November. The doctors have produced a schedule to wean Anabelle off the Ciclosporin. This is good news as she is now getting really hairy. Her T cells have gone from 70 to 150 which we are really pleased about. Her neutrophil levels are also really good. As I understand it (I could be wrong and often am!!!) the T cells need to be about 300 to come out of semi isolation. Now that the Ciclosporin is being reduced her T cell levels should keep on rising. She has also now come off her blood pressure tablets and her current medication protocol runs like this
7.00 am Ciclosporin, Aciclovir, Posaconazole,
12.00 Penicillin, Aciclovir, Posaconazole, Magnesium
5.00 pm Ciclosporin, Aciclovir
10.00 pm Peniclilin, Aciclovir, Posaconazole, Magnesium
In addition to this she also has Septrim on Mondays and Tuesday twice a day with Calcium Folinate on a Friday.
She still refuses to take any form of fluid and has 480mm milk fed through the pump overnight via her peg and two lots of 200mm sterile water through out the day.


A nice picture she will thank us for when she is older!!
 

One of the few places we can take Anabelle. It could be worse.

The Semi isolation can still be pretty monotonous although the walks along Southsea Sea front can provide a welcome break. We are next back at Great Ormond Street on the 19th December and hopefully her T cells will be where we would like to see them. That would make a great Christmas present!!!

It is Day BMT Plus 101, and everything is going well.

Loving a cheeky swing!!

Life is continuing now we are back home. We both are working 3 days a week each to help bring the pennies in and also to cope with the semi isolation that goes with looking after Anabelle. We are still not able to take her to any public places such as shops, restaurants etc.. Our only solace is that the beach is just down the road where we can take her for walks. On the way to the beach the other day we noticed the park was empty so had a little blast on the slide and swings, which she absolutly enjoyed.  Great Ormond Street are pleased with her progress though and we now are only required to go to Day Clinic at Safari Ward once every 4 weeks. We still get the community team coming round on Mondays to change dressings and take bloods.
She has now stopped taking the MMF and the only immune suppressant she is now on is the Ciclosporin. Although her blood counts are progressing well her Immunity level is still very low. This is will in part be down to the Ciclosporin. Her current counts are 70 and we need them to be at 300. A side effect of the Ciclosporin is increased growth of body hair and we are now starting to see this on Anabelle . Most notably on her eyebrows, face, shoulders and back. As she is progressing well we have been told that at the next visit on the 28th November to Safari Ward they will look at taking her off the Ciclosporin. Hopefully before she turns into a little monkey!!!

The Great South Run came and went in Portsmouth last week. We had a few runners running for the MPS Society. I want to say a massive thank you to all these runners, supporters and all those who sponsored us. If you haven't sponsored but would like to do so, good news, you still can!! Just click the link on the right hand side.

Runners, supporters & Anabelle braving the cold

Some of the runners re - de hydrating after the race in the pub!!

It is now just over a week away from the Great South Run. Anyone who wants to sponsor us can do so by clicking on the tag to the right. Its for a great cause as the MPS society provide tremendous support for affected families and also fund research into treatments for these varying diseases.
The link is as follows

http://www.justgiving.com/LRShepherd

We also need to thank a special young lady from Western Australia who took it upon herself to arrange a sponsored trek. Mimi Cardy-Newman who is only 13 and the daughter of Jackie and Billy (friends from down under) organised the trek and arranged the sponsorship herself. She also wanted Anabelle to benefit directly from this. We are really touched by this act, so a big cheers mate to Mimi. Cant believe how grown up she looks, what an intelligent and beautiful girl, (these things must skip a generation!!!!) No seriously Jackie and Billy you must be so proud.

Got to say the weather looks lovely there. It probably wont be the same at the Great South Run!!!

Mimi at the finish line

Just completing the trek.

We’re back home in Portsmouth!!!!!

After 60 days of being in isolation on Fox ward, Anabelle was discharged from Great Ormond Street on 21^st September.

7.00 am medicines!!!!

Prior to leaving GOSH we had training on how to do her medicine as we have to provide medicines at 7.00am, 12.00, 3.00pm, 5.00 pm and at 10.00 pm.  Not just one medicine mind but a whole bundle of them!!!  In addition we have to make sure that Anabelle takes in at least 1000ml of fluid each day which is a mission as since having mucasitis she will not even looked at a bottle so all fluids are currently been given into a pump machine via her PEG  - an overnight milk feed of 480ml, then during the day two lots of  water bowless providing the remaining of the water. Our first week at home took alot of getting used to.

Even though we are home we are in semi-isolation, which means we are unable to take Anabelle anywhere public i.e. shops, restaurants, pubs; anywhere where there is people which pretty much means everywhere. Our only outlet is to take her for strolls down to the beach.  We also have to be very very careful with people coming to visit, which being social people as we are is taking time to adjust to.
However all that said, Anabelle is coming on leaps & bounds, her tantrums/irritability has now calmed down and she is smiley  again, enjoying being on her feet & even giggles daily, which is a sound we didn’t hear for a long time – this all makes being at home so much easier. She is becoming more like her old self each day.

On Mondays, our community team comes to the house to change Anabelle’s Hickman line dressing & take bloods.  We also still go to Day Clinic at Great Ormond Street which gives us a chance to pop back onto Fox Ward to say hello.

Our time on Fox Ward had some high & lows, starting with the highs; we made some lifelong friends & really had a laugh and when you’re in the situation we were in you really need that.  All of the nurses on Fox, also made our journey so much easier, by not just only doing your jobs caring for Anabelle but again having a laugh with us. Coffee being brought first thing in  the morning is a real bonus.  A big thank you as well to Adele (play specialist), student nurses & volunteers who everyday came in and played with Anabelle so we could go & have lunch together most days, again when you’re in isolation to go and get lunch together was important for our relationship & sanity!! The jobs all these people do is really unbelievable when you consider what they have to face on a daily basis, which brings us onto the lows. We were very unfortunate that it was one of the worst times they have ever had on Fox Ward as four of the little ones lost their battle far too early,  our hearts go out to the families of Fiz (11), Rosanne (9), James (20 months) & last but no mean least beautiful little Richard (10 months).

On more of a positive note, we would like to congratulate Theresa & Shane on the great news of your impending pregnancy – Thank you for your support via this blog on your experiences & please keep us up to date when Corey s brother arrives.  Next year we will definitely have to catch up.

Anabelle  has been on such a massive journey  and although we know she is not out of the woods just yet, her progress has been amazing and we look forward to seeing her progress each & everyday.

To say this has been an emotional rollercoaster is a massive understatement!!  However we must apologise for not updating the blog as regularly as we would have liked, however in the bubble world that we live in, called ‘fox ward’, everything changes so quickly that we just haven’t had the time.  Let me try & break down what’s happened in the last 3 weeks for you...........

Ok so a week after the last blog, Anabelle had an allergic reaction to  Ambusol, literally in 10 mins her whole face had swollen & went bright red, poor little might could only just open her eyes – she really did look like she had been in a car crash. The doctors gave her piriton which took some of the swelling away.  A couple of days later she was having high temperatures (over 38), as well as needing oxygen constantly, so the decision was made for her to undergo a CT scan on her lungs as this would determine if she had an infection or if it was graft verse host.  Due her not being well we were both very apprehensive with her going under general anaesthetic, however we pushed on as we needed to know what was wrong so the team could treat her.  That evening however, her high temperatures escalated to fevers (over 40), her body was starting to shut down, whereby her hands & feet went freezing and she would be shaking as if she was cold. Along with all this going on we also got the results from the CT scan which showed that Anabelle had a chest infection & there appeared to be a section of collapsed lung. The doctors & nurses were constantly in our room that night, but they did say that Anabelle was on every antibiotic & anti fungal medication possible so it was just now down to Anabelle. If she got worse, we would be in PICU (Paediatric intensive care unit).  48 hours later and there was still no improvement. She was spiking through the paracetamol which had held the temperature before. The decision was made to put Anabelle on steroids to try to combat this.  It worked – within 6 hr she had gone from 40.9 to too cold to read on the temperature dot thermometer!! 3 days later & her oxygen stats where back where they should be – no more oxygen required & temperature returned to normal.

However the good news in this time is that Anabelle's neutrophils had risen so she wasn’t neuatropinic & could help fight the infection.  Another chest x-ray has been done & her lungs are all as they were on the last blog – panic over.

Day 33 - 5^th September we got the great news that we had been waiting for....... Anabelle is 100% ENGRAFTED!!!  And we maybe home in 2-3Weeks!!!

Day 34 – Anabelle tried her first food in 45 days as she has been nil by mouth due to having a cord donor.  I really thought this would be a struggle but seems to be loving food, even though we can only feed her bland, bland, bland food – no dairy & only introduce one new food a day.

Day 35 – Anabelle has developed a mild hernia & is very unsettled.  She has cried a lot, which is unlike her & will only stop when we are standing up holding her. She also has high blood pressure – god it feels like we take one step forward, one step back!!

Day 37 – Anabelle has not stopped crying now for days & we just don’t know why  - however the only time she has been like this was due to the cyclosporine so  her levels will be checked again as this can cause bad headaches, she has also stopped codeine & is back on morphine (orally) .  Fingers crossed we get out happy baby girl back & some much needed sleep

Day 38 – Its official we are in ‘Yellows’, this is a step closer to going home – no more having to wear plastic aprons in the rooms & Anabelle can now go out of this goldfish bowl & into the corridor!! By Wednesday we hope she can outside in the pram, this is all dependant on her high blood pressure.

Today is day 39 & so far we haven’t found anything that is upsetting her stomach – hooray.  Her milk is given via a pump over night & this is now at 30ml an hour, which increases 5ml every night until she gets to 40 ml, she will still be on this when we go home. Her neutrophils are 2.07

Anabelle has now had 5 blood transfusions & 8 Platelet transfusions!! She has also stopped ERT as her body is now creating the enzyme that her body didn’t produce before.

Throughout this process her general development has been pretty good. She has gained new skills such as unscrewing caps and being able to place small objects into bottles. She is showing aptitude for meticulous play and music. The play therapist and Occupational Therapist visit regularly to help stimulate her mind and boost her development.

Day Plus 18

The last few days have been tough. She currently has the mild symptoms of graft versus host which is what we have been expecting. She has developed a rash, her bum is really sore and she has developed mucasistis. For the last couple of days she has been waking up and throwing up a combination of mucus and blood, not very pleasant at all. She had been waking up through the night in pain and during the day it was clear she was suffering from discomfort inside. The specialists are on the case though, and when symptoms have manifested they have been treated. In addition to the regular doctors and nurses we have had visits from Pain Management Specialists, Tissue Viability Specialists and X ray Specialists. The morphine has been increased so she now has a continual background feed with an additional push from the nurses. She has been given oxygen whilst sleeping as her SAT levels were low. A chest x ray was carried out as a precaution and all found to be good.  She has had a couple of temperature spikes and paracetamol has been administered. She has now had 3 blood transfusions and 3 platelet transfusions. Her Neutrophils however are showing signs of rising. Yesterday they were 0.12 and today they are at 0.14. As her Neutrophils rise we are expecting to see the illness’s slowly decline (touch wood). These are usual symptons for someone who has undergone a stem cell transfusion so altough it is not pleasant it could be a hell of a lot worse.   Even with  a swollen face and doped up with morphine she still likes to sing and perform the actions to head, shoulders, kness and toes.

It is now BMT Plus 14 and things have been going well. At Day Plus 10 Anabelle’s Neutrophils finally hit zero which meant that she now no longer had an immune system.  Her Neutrophils should start rising at about BMT Plus 21 days, which would then show that the engraftment is working. (Fingers, toes and everything else crossed).

She has now developed Mucasistis and is suffering from a sore mouth and it is also affecting her digestive tract right down to having a sore bum. The experts from Tissue Viability came up and provided some silicone based cream to apply to her bum instead of the 50/50 we have been using. She is also now on morphine to help with the pain and it is doing a great job at keeping it at bay. (She’s not sharing it though!!!). Although we had shaved her head it actually started growing back and we were actually wondering whether we were premature in doing this. However it is now falling out quite quickly with the evidence all over her bed.

We have been having a few visitors to come up and help relieve the boredom.  Through a mixture of the play specialist, nurses and volunteers we have been able to get out for a bit. The Play Specialist (who is invaluable) got Anabelle a puppet and they are now inseparable, she has it with her all the time except at Bath time. Bath times have drastically improved with her and she no longer screams the room down when being bathed but likes to sit there and splash around with her ducks and leaving the room in a wet state.  Her general temperament has improved the longer we have been here and when she’s not sleeping she likes to cruise around the cot dancing with the radio on. We make idiots of ourselves by dancing around with her!!! When people walk past the window she gives them a massive smile and brightens up their day.  Some people actually walk past just to get a smile out of her. Even when the nurses need to carry out their observations she now holds her arm out waiting for her blood pressure to be taken!! The only thing she isn’t a massive fan of is the mouth swabs and we have to pin her down to carry those out. We have also had visits from the Music Therapist and Speech Therapist. Her signing has developed and would put Mr Tumble to shame!!!

Her levels are being constantly measured and a couple of times her blood and platelet counts have dropped. She therefore has had to have additional transfusions to counteract this. Again nothing to be concerned as the experts here have got it under control. The Doctors and Specialists are very pleased with her progress.  


Two hoodies together!!

The other day we had a bit of a scare as we had been advised that her test (she is constantly being tested for bugs and nasties as she has no immune system) had come back positive for Paraflu. The Analyst wasn’t happy with the sample though and feared it may have been contaminated.  So a further test was done. As a matter of precaution whilst we were waiting for the second results to come back anybody that would come into our room had to wear a mask. We felt as though a red cross had been painted over our door!!! If the second test had come back positive it would have meant additional treatment, moving rooms and Anabelle having to sit in a tent for 6 hours. Fortunately it came back negative. We breathed a sigh of relief at that one but it also made us realise that things can change quite quickly when she is in this fragile state. We are however constantly amazed as to how well she is coping and very rarely crying throughout this journey which is more than most people have to face in a lifetime.



Today is Day Plus 4.

We have to say so far so good. She is no longer taking in her 200ml of water she was allowed per day and she has a bit of a sore bum but currently nothing really bad to report. She is generally very cheerful and is enjoying her playtime although after about half an hour she tires and needs her nap. Her HB levels were low so she had a blood transfusion the other night and they have picked back up.

For those that were asking this is a rough outline of her treatment as I see it.

Anabelle is missing the alpha-L iduronidase enzyme due to genes passed down by myself and her mother. She has had the stem cell transplant in the hope that with the new stem cells she will be able generate this particular enzyme.

As part of the conditioning for her body she has had chemotherapy which will destroy her cells in order for the new cells to grow. In addition the chemotherapy lowers the immune system so that the body does not fight against the newly installed stem cells. The chemotherapy drugs given to Anabelle to achieve this were Rabbit ATG (this is actually derived from rabbits by the way!!), Bulsulphan and Fludarabine. All these drugs have particular side effects so she has been given a whole host of other drugs to prevent and minimise these. Before the transplant her Bulsulphan levels were measured and found to be a little too low there a higher dose was given. As the cells came from an umbilical cord she needs approximately 3 weeks of gut rest so is on TPN (total parental nutrition) which is basically liquid food given intravenously over a 24 hour period.

What we are currently waiting for is her Neutrophils and platelets to drop down.  Her Neutrolphils were 3.95 at the start of the treatment and are as of today’s date at 0.33. Her platelets were 470 and are now at 208. These two items help form the white blood cells. Neutrophils fight infections and Platelets help with clotting. Once they have dropped down then the donors cells will engraft and these should then rise back up. Our biggest concern currently is infection as she now has no immune system and is at risk from all sorts of nasties, hence the isolation.  Other issues include Mucositis. This is where cold sores / ulcers form all the way from the mouth right through the system to the bottom. This obviously is very painful and uncomfortable for them. Her bowel movements are not very pleasant and are very similar to a hot cup of Bovril. (I never liked that drink anyway!!!). Another issue to be wary of is Graft Versus Host Disease. This is where the new cells recognise Anabelle's body as foreign and send out lymphocytes to attack the body. This can be mild, moderate or severe. She is taking Ciclosporin as a preventative for this. Another potential complication is Veno Occlusive Disease, which basically involves the liver with the blood vessels to the liver becoming blocked. Normally there is less than 10 per cent chance this happening however as she had to have additional bulsulphan Anabelle’s chances of getting this have increased. The closer towards day zero these illness surface the more severe they are so we will feel a lot better at somewhere around Day Plus 14.

Day Zero

Full of goodness !!

Today Anabelle had her Stem Cell Transplant. This was basically a 3 hour infusion of stem cells harvested from an umbilical cord from Slovakia. The cord is from a male donor and shares the same blood type as Anabelle. It also has a high amount of stem cell content. One thing no one as really mentioned is the smell. Throughout the whole process and even after it Anabelle has a blood smell about her, similar to that smell you get when you open a sealed joint of beef from the supermarket!!!. A nurse had to sit throughout the process and take observations before during and after to ensure that there was no adverse reaction. We are pleased to say there is no adverse reaction. She is still on her concoction of anti viral drugs administered via infusion. She no longer wants her 200 ml of water which we have been told is expected. Her neutrofils and Platelets have steadiliy been decreasing  (Neutrofils are one type of blood cell that help fight infection and plaelets are blood cells that assist with clotting and help to stop bleeding).
Her temperament has improved over the last couple of days and it has been good to see her smile and play again. Now we have gone passed day Minus 2 we have to gown up upon entering our room. At least we are able to get out unlike Anabelle who is stuck in the room.


Yesterday we had additional support with people looking after Anabelle so we took the opportunity to walk up to Camden Market for an afternoon out. It was good to get out and sample some decent street food!!!.

Passing the time!!!



Fatty at Camden!!!

It is now Day Minus Two.
She is on her last day of her lovely concoction of Fludarabine and Bulsulfan before her rest day of day Minus 1. However after checking her Bulsulfan levels she needs an extra infusion on the rest day. The last couple of day have been really hard. She has not been a happy little bunny at all. She wakes up- she cries, she gets changed - she cries, she has a bath - she cries (and she used to love her baths). To top it all we decided to cut all her hair off before it fell out. this was probably the hardest thing we have ever had to do but we know it is for the best long run. We are just hoping that it grows back the same way and not dark and curly as we have heard it can go after a bone marrow transplant (no offence to the people with dark curly hair).
Anabelle's moods seem to have started at about the same time as Ciclosporin commencing as per her protocol. (thanks to Teresa's comments for us to notice the connection) She is not drawing her legs to her stomach to indicate stomach pain but apparently it is also known to bring on head aches. Its frustrating because she cant tell us!!! Her codeine has been upped and the Ciclosporin has been diluted. This seems to have a positive effect.

Day Minus 6 to Transplant Day.
This is Anabelle's last day on the Rabbit ATG and she is coping very well. She doesn't seem to have any of the known side effects of this drug, although she is sluggish, lethargic and a bit moody.  But there is no sickness or rashes. She had a low pulse rate the other night and a doctor came to see her and connected her up to an ECG machine but fortunately the readings were nothing to be concerned about.
We are trying not to go stir crazy by having play time, watching tv and videos etc.. She isn't happy with some of the routines though, especially the mouthcare. Part of the symptoms are breakdown of the tissues of the mouth and throat. To help alleviate this a mouth care routine has to be adopted whereby the mouth is swabbed 4 times aday. This has to be done by physically pinning her down, she can be a strong little thing.


Working on the laptop!!

The Olympic torch came into the hospital yesterday and our nurse manged to get her picture taken with it. The opening ceremony of the Olympics was impressive and we enjoyed it more than expected, especially the section on Great Ormond Street Hospital. (I don't know if any foreigners would get it though !!!)
Tomorrow is the start of the more aggressive chemo and she will be on Busulfan for four days.

Today is Day Minus 9 for Anabelle. The days are being counted down from day Minus 11 up to her transplant day.
We have now relocated to London (day Minus 11) so that both of us can be there for her treatment. As only one parent can stay on ward overnight we are going to tag team so that we can evenly share the lack of sleep. we also have a room at the Sick Childrens Trust. We are both staying strong for her and will deal with what ever is thrown at us.

Last week we had spent a few days up here whilst Anabelle had her PEG inserted. This is a tube which has been surgically installed into her stomach. From this we were able to inject her anti fungal medicine directly into her stomach. This might sound harsh and it felt really weird doing it but it saved a lot of heart ache by having to pin her down and try a get her to ingest this foul smelling liquid by her mouth. She had a raised temperature after the operation so was kept in an extra night as a matter of caution. We also met another child with Hurlers on the ward who is also awaiting his BMT. His parents were really nice. They were given the diagnosis the same week as we received our 'wonderful' news. Apparently its very unusual to have two hurlers in at the same time.

On Monday with our suitcases in hand and our back packs on we arrived at Waterloo and got a taxi to Great Ormond Street. We were given the protocol out lining Anabelle's treatment and details what drugs she will be having and when. This protocol is based upon treatment given through out Europe so we feel we are in really good hands. 

Still able to smile. Bring it on!!

Yesterday (Day Minus 10) after meeting various members of the BMT team Anabelle had her operation to have a Hickman line inserted. This is basically an additional two lines placed in her chest area so as to enable the speedy insertion of all her drugs. This was done via a vein in her neck. She will be having  an TPN infusion instead of food. This is an infusion that will last approximately 20 hours. As she is having a cord transplant they have found there is better engraftement if the patient refrains form eating for at least 3 weeks. I would struggle with 3 hours!!! One good thing is that she will no longer have to have a cannula fitted with all the hassles that go with that. She also had an infusion of Methylpredisolone which is a steroid to help the chemotherapy.
Now it is day Minus 9 her chemo will start with an infusion of Rabbit ATG (Anti Thymic Globulin) which will last about 8-10 hours. This is the less aggressive chemo and will be given everyday for 4 days then on day Minus 5 the stronger Chemo will be given. She is a little tired and grouchy but has still found time to play with her new toys.!!!

Hi there is a lot to convey today, mainly down to the fact that I haven’t posted for some time. There has been a lot of development in terms of Anabelle's progress, particularly her walking. She is now cruising around the furniture and no longer content to just sit there and laugh. She now needs to be on her feet and laughing.

 

Picking the winning numbers!!

We need to start off by saying a massive thank you to the good people of NATS where as we have mentioned previously Anabelle’s Aunty Sally works. They have been doing some more fundraising (do they ever stop!!) and have raised over £5,000.00. They have decided to split this three ways with a section going to the MPS Society, a section for research and a section for Anabelle’s needs. You have to say in this day and age where the word austerity is mentioned on a regular basis it’s good to see people giving.

There are also a lot of people running the Great South Run now. Apart from myself there is Paul B, Terry, Andy, Paul NZ, Kate, Marie, Kelly, Mel, Luke, Betty and John. Enough for a football team!!! This is a testament to Anabelle's personality as she seems to have a large impact on everybody she meets. If anybody wants to set up a JustGiving page they can join Team Anabelle by going through my link to the side where it can be found at the bottom of my page - sponsorship can also be done on this page.
 
Going back to Anabelle's treatment the 30th May 2012 was a normal ERT day. Leanne was at a works sales meeting so I went up with my other daughter Leah who was on break from college and after Leanne joined us at great Ormond Street I took Leah to see Damien Hirst exhibition at the Tate Modern. A bit of abstract art in our surreal world!!!

The following week after the Diamond Jubilee celebrations we met up with another family whose daughter has Hurlers. Their daughter is 6 months ahead of Anabelle in terms of treatment and is an extremely beautiful vibrant child. Throughout the whole time we were there she was running her dad ragged!!. I bet he slept well that night!!! It was reassuring to meet up with people who had gone through what we are going through, and I get that this is a lifetime condition but to see how active she was after her bone marrow transplant was superb to see.

Anabelle's tenth infusion that week was a normal with nothing of note to report.

The following week I had to work so Leanne went up with her mum and dad for the eleventh infusion. Again another normal infusion, the canella went straight in and there were no issues.



Leah and Anabelle at Terry and Pauls wedding

On 15th June 2012 Terry and Paul were married and Anabelle was flower girl. She almost stole the show. Congratulations to you both - we all had a fabulous day.
 
On 20th June 2012 before her normal ERT we met up with the Bone Marrow Team on Safari Ward. During this meeting the whole process was explained to us and it got very in-depth. We were also advised that this would commence possibly 3rd week of July. This was positive news and well ahead of the 10th August previously quoted. We had the risks of the transplant explained to us and also what would happen if she didn’t have the transplant. Although it is our decision to make we both feel that this is the only option available to Anabelle to give her the best chance of a life as close to normal as possible. Although this should help her produce her own enzymes it does not work particularly well on the bones so she will need corrective surgery as she gets older. The form of treatment is aggressive so she will also be infertile throughout her life and will almost definitively require hormone treatment when she gets to puberty. This all sounds nasty but the prospect of not having it done is even worse.

The good news is that there are actually two matches for Anabelle. She has a live 10/10 match in America and a cord match in Slovakia. (I did ask if she had the American match would she be entitled to a dual passport - but apparently not) We have been recommended to use the cord match as it seems to have the best results for Hurlers and we are going with their recommendations on this one. The basic outline of the process is she will have a Hickman line put into her chest and a port installed into her stomach. She will then have nine days of chemotherapy, 4 days less severe than the final five the aggressive form of chemotherapy. The stem cell transplant will then take place via an infusion. She will be given a whole host of drugs and kept in isolation. Between day 5 to day 21-28 will be rough then we hope to see the donnors white cells apear. We were told about all the drugs, their names and what they are for but I will go through them later as she is given them.

On 26th June 2012 we had the ENT investigation which confirmed that she has no issues with her ears, nose and throat. We were told that there were no issues for a normal baby let alone a Hurlers baby, superb.

On 27th June 2012 Anabelle had her thirteenth infusion. It was also confirmed that Anabelle will be admitted on the 23rd July 2012 for her transplant - 4 weeks away- scary stuff. She has been prescribed Sporanox which we are giving her daily to ensure that she has no fungal infections.

In the afternoon we met up with Nicki who took us up to fox ward to show us around. It was smaller than I expected and the rooms were a lot smaller to. As we already knew only one parent can stay on Ward overnight. We will both need to stay in London somehow and I'm not sure yet how we are going to do this. I have met up with the family accommodation Team to see if we can get accommodation and our name has been put on the list. bearing in mind the number of clothes changes required per day for the child and the parent and also the amount of times throughout the day and night when the nappies will have to be changed due to the medication we are both going to have to be around. I cannot see how this can be done by one person. We will see what happens with regard to that one. In the meantime we are starting to get the house prepared by finishing off the jobs that have been put on the back burner and thoroughly cleaning the house.

I think we are going to get OCD with the hand cleaning!!!!

Sorry a couple weeks late I know., but here goes.

17th and 18th May 2012.
After arrival at the Kingfisher Ward on the Thursday morning a bed was assigned to Anabelle and the process of inserting the cannula began. Vikram, (the man with the light) was in intensive care and was therefore unable to attend. So it was left to Sinead who found a vein in Anabelle's arm and managed to insert it first time. The process was very quick with little stress to Anabelle. Her seventh infusion went extremely well and finished at around half four. Anabelle is getting more used to the infusions as the weeks go by.
Whilst the transfusion was happening we were were given the date for the bone marrow transplant. The date they are working to is 10th August. Relief and worry all at the same time!! Someone from the bone marrow team is going to come up to us in the following week to answer any questions we have. A meeting has also been arranged for the 20th June to talk specifics and to go through the technical stuff.
We have also been advised about her GAG levels. Her reading at her first appointment was 156, an unaffected persons generally are around 20. By the 2nd May Anabelle's GAGs have reduced to around 70. This is good news. Hopefully they should have reduced even more.
As it was my birthday we went to the Italian across the road for a meal before retiring to the patients hotel for the night.
The next day began with Physiotherapy at 9.00 am and Anabelle was grumpy through this. Cardiology then followed. This consisted of a ECG which she slept through then a Echo she was awake but I rocked her to sleep. We then saw the consultant. To sunmerise she has noraml heart sounds with no murmurs and no added sounds. She has very slight leakage of the Mitrial valve and even slighter leakage on the aortic Valve. The leakage is so slight that it couldn't be picked up by a stethoscope. MPS babies generally suffer from heart problems due to the Mucopolysaccharidosis. Basicallly Anabelle is asymptomatic from a cardiac point of view and only has mild cardiac involvement from her MPS. Good news indeed.

23rd May 2012
Infusion number eight was very smooth and the process very efficient. Anabelle is getting more and more active as the weeks go by. As suggested by the Physiotheripist we bought Anabelle some new shoes. Now all she wants to do is be on her feet. She has also learnt to point and to pull herself onto her knees. She is such a fun smiley child who always seems to be in a good mood, aprt from in hospital that is. It would be nice for the nurses to see her cheerful side!!. In the afternoon Victoria brough Nicky from the Bone Marrow Team down to answer any inital questions we may have. I think we kept them for about two hours. The 10th August is the date we will be working to although this is not set in stone as other factors may affect this. The cord cells are sitting in a jar in a fridge somewhere waiting to be united with Anabelle. Some of the things that we had been told at this time are that her treatment will start with Chemotherapy. This will be classed as day Minus 8 which will then count down to Day Zero which is when the transplant will take place. Only one parent will be able to stay on the ward over night with Anabelle and freash clean clothes are required every morning and night. No wooden toys or soft toys are allowed, generally only things that can be wiped down with no intricate parts where mess and germs can harvest. We will need to work out what to do with regard to the accomodation issue as this will need both of us with Anabelle.

Anabelle and her mummy

The next date at Great Ormond Street is 30th May 2012. the only thing that is due that day is her 9th infusion.

Getting used to this now!!!

Hi. Not a huge amount to report this week. Anabelle had her 6th infusion yesterday. It took 4 attempts to get the cannula in. In the end they had to get the man with the light back who managed to get it into her left foot. Bless her with her bruised little hands and feet. Although she kicked off throughout the insertion she soon settled down afterwards. I think I have mentioned it before that due to the MPS they have tough skin which makes it difficult to insert a cannula.
There has been no real feed back concerning a meeting with the BMT Team, but we have been told that the transplant will happen in August and is currently being scheduled in. The Enzyme Replacement infusions will continue up until this date. The infusion yesterday went fairly swiftly and Anabelle even slept through part of it. She is becoming more active week by week and on the way home she amuses all the commuters with her giggles and waves.
As we have an appointment with the Cardiology Clinic on Friday 18th May the infusion that week has been switched to the Thursday. This means we only need to spend Thursday night up there (my birthday by the way!!!).
We have also set up a JustGiving page and Team for the Great South Run. The link is   http://www.justgiving.com/LRShepherd and is also pasted on the right. If anyone would like to donate to the MPS Society or join the team it can be done through there.

Look At Me!!

Just a quick one. Anabelle took her first steps with the baby walker today. Well Proud!!!! The Enzyme Replacement Therapy is definately working.

View from Waterloo Bridge on way to Great Ormond Street. (Testing out my new poster app!!)

Another busy time at Great Ormond Street, but plenty of positives to be taken this week.
We stayed over on Tuesday night for an appointment with the Ophthalmologist (eyes) first thing Wednesday morning. The first appointment confirmed that she pretty much had 20/20 vision although they found it difficult to keep her attention on the task in hand. Well she is fourteen months old after all!!! They then put some eye drops in to dilate the pupils to prepare her for the second appointment. Fortunately she fell asleep which was a major bonus as the various test were carried out by raising one eyelid open and then the other. Apart from stirring a couple of times she didn't even notice. What could have taken ages to complete with lots of hysterics was completed easily within five minutes.

The potential effects of MPS on the eyes are clouding vision, intolerance of bright light, glaucoma and damage to the optic disc where the mucpolysaccharides build up around the nerves. The results from these tests showed that Anabelle does have some clouding but this is improving through the ERT infusions. She also hates bright lights but again over the last few weeks she is more tolerant of this. The even better news though is that Anabelle has no signs of glaucoma or damage to the optic discs.

Future Musician!!!

After our stint in the Ophthalmology Clinic we went back to the Kingfisher Ward for Anabelle's fifth infusion. Our specialist nurse, Victoria told us that the results of the CT Scan had come in and she confirmed some more good news...... There is no evidence of Craniosynostosis (I've tried to limit the big words but there are just too many!!). This basically means that there is no issue with how our little girls head has fused. there was also no fluid on the brain, these two items are symptoms of MPS and we had been nervously awaiting these results so it was amazing to hear of things that Anabelle doesn't have as opposed to things that she does.

We were also given the even better news that the BMT Team had been in contact and that they have a 10/10 cord match for Anabelle!!!!!!!!!!!!! July as been touted as a possibility for the transplant but I have a feeling it will be in August. This is great news although daunting. Our only niggle is that we will be in London whilst the Olympics are on. Me personally I'm really not fussed about the Olympics. If it was the world Cup however that would be a different story.

We will be setting up a JustGiving site for the sponsorship for the Great South Run for the MPS Society. Kate and Paul have also entered the Great South Run.(Well Done & Thanks)
We also need to mention the good people of N.A.T.S. where Anabelle's Aunt Sally works. (no not the one from Wurzel Gummidge for those old enough to remember!!) They have been doing some fund raising for the MPS Society and have raised lots of money already and other events planned. Don't forget it is MPS Awareness Day on 15th May 2012, where everyone can do their bit. 


N.A.T.S. They do more than keeping our skies safe!!

We are very fortunate to have such good family and friends who have been there for us and would just like to say a massive THANK YOU.  We are also overwhelmed with the support from people who don't know us personally but have taken the time to read our little blog and even comment. 

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"