The news from Sheffield

Ive tried to think of 'clever' ways of writing this blog post...but quite frankly I cant write for an audience. I write how I think, what I think and so apologies in advance if it ends up being a bit of a jumble but thats the way it is.

We went into Sheffield Childrens yesterday,the journey up there was diabolical...heavy rain and then a 4 car pile up on the M1 meant that there was no way we were going to meet any appointment time and so I had to phone ahead and tell them we were stuck in a trafic jam. Those who travel to Sheffield childrens will also know how awful...or non-existant the parking is now so the thought of having to arrive in the middle of the day wasnt filling us with glee. On a previous appt David had had to park half an hour away and wait for us because there was nowhere to park so that he could come to the appointment too. We asked friends to pray hard.
We got to the Childrens at 12.00.....and drove straight into the only disabled parking space! we both said 'Thank you God!!' as the likelyhood of that happening was almost zero. I was pleased that both of us would be there for such an important appointment.

When we got there the Consultant had gone but they bleeped him and he very kindly came back up to speak to us. Seraphina was weighed...unsurprisingly she had lost weight again..she now weighs a kilo less than she did at 2 years old and her little ribs are sticking out.

Our Consultant had laised with a gastroenterology consultant in Great Ormond street Hospital in order to get the best plan and outcome for Seraphina.

He was fully informed about Seraphinas condition and took the time to answer all of our questions but the outlook in his own words was bleak for her.

She has a rare (but not unheard of) complication of Rett syndrome which behaves like an extreme inflammatory bowel disease and ends up in complete intestinal failure. He said Seraphina seems to be moving quite rapidly towards this and TPN shortly will be our only means of feeding her but , he is willing to try and hold off by using other medications for as long as possible. He explained the  fact that it looks like Seraphinas Jejunostomy has ulcerated underneath and thats why we have the rawness and begingings of ulcers coming through the surface. This will have to be investigated sooner rather than later but for now we are back on the maximum amount of steroids and he wants to introduce a drug called Azthioprine which is another immunosuppressant to try and get the inflammation down as much as possible.
There are other procedures which she may have to have done but I wont go into them here...just to say they arent pleasant.
He also discused with us disconnecting her large bowel completely and doing an ileostomy but we felt that this wasnt an option at this point particularly as none of the treatments will cure her they will just buy us more time.

At present she is only just about tolerating 20% concentration feed and that is with discomfort and bile...if we cant increase that over the next few days then we will need to go back to Sheffield to be admitted and potentially start TPN. No-one knows why her gut is failing suddenly quite so quickly but agreed with us that even back in 2009 when she had her volvulous that could have been caused by this disease in her bowel and by some miracle of God have managed to keep her ticking over for this long....there are no answers.

So, this is where we are now. To say that we were both in shock last night is an understatement. We both knew that there was no cure for Rett before but we werent expecting to be faced with the very real prospect of losing our little girl quite so soon...the future seems so uncertain right now and although my faith in God is very strong I still...hae to ask 'Why?' as the thought of not seeing that gorgeous smile and hearing her giggle, snuggling those wild curls and giving her eskimo nose kisses seems more than I can bear.

But I refuse to let this news beat me, beat us as a family...if the Rett monster wants my girl he's going to have a fight on his hands.
As long as my girl is smiling then so must we. I dont know what will happen in the future but I DO kow that God STILL has my girl in his care and why I dont understand why He is allowing this to happen, God is still God.
He may work another miracle just as He has with her walking and with her no longer needing oxygen...He may not

Im praying for that Miracle anyway....with all my heart.

and in again...

Just a quick post update.
we have only been home over the weekend and Seraphina is still not tolerating feed. Each time we try she seems to be in pain and the amount of dilute feed we get to before she gets upset seems to be less and less. she has had diahorrea again too with blood in it.
Sheffield wanted to admitt her yesterday afternoon and said they had spoken to Great Ormond street about her but when asked what the plan was they didnt have one. so instead we are going tomorrow morning to meet with the consultant and try and thrash out a way forward for our little girl.

The difficulty seems to lie in the fact that not many girls with rett syndrome have this extreme of problems with their gut..its like a kind of intestinal failure but no-one knows why or how to treat it. Seraphina is one of only 4 girls who have had this extreme problem for which as with the rest of Rett...there is NO cure yet.

The chaplain who came to visit us in hospital asked me whether I was angry at God for what was happening as he would be. the answer is categorically ...no. Im not angry. God hasnt 'made ' this happen.What I dont understand is 'why'., not why us as a family because the answer to that is simply 'why not us?' but why Seraph has to suffer so...it breaks my heart to watch.
This is where faith comes in...I dont understand why but God is still God, God is good...not some of the time but ALL of the time so I have to trust that although I dont see the plan in all this, there is one, and one day I will understand.


So today I am once more packing our things together for a hospital stay...I dont know what tomorrow holds,Im still praying for that miracle but I know whatever happens God has my Seraphina in his care.

Home for how long..?? Rett syndrome awareness

Well we are home after 3 weeks in Sheffield Childrens hospital.
A totally unexpected stay...we went for a routine clinic appointment with the surgeon. I had phoned the surgeons secretary at the begining of September and said that Seraph was losing blood in her nappies but the earliest we could be seen was the begining of October...well we saw the surgeon and he asked for a routine full blood count (iron level check ) as I asked whether he would do one and he acknowledged that Seraph looked ' a bit pale'
on the M1 motorway on the way back we had a phone call...come back to the hospital as Seraphinas HB was dangerously low....5.5 in fact!
we drove back to the hospital and within a few hours we were on a ward and Seraph was getting an urgent blood transfusion.
It was decided to do a colonoscopy and endoscopy once her HB level was up sufficiently to see where the bleeding was coming from.

I think I went through it all in auto pilot, so shocked was i at the level of her HB. It was only when she had gone to theatre I started to think..and kick myself for not realising sooner how sick she was. Now we are home I feel pretty much the same...WHY didnt I realise sooner..and how I wish I could ' make it all better' ...thats what Moms are supposed to do right?

After the colonoscopy the Consultant Gastroenterologist came to see me and told me that Seraphinas entire colon was inflamed and bleeding. He said it could be either infection or ( as he suspected) inflammatory bowel disease associated with Rett syndrome.
They put her on very strong I V antibiotics and waited for the biopsy results to come back. I explained that we had been struggling with feed for a while and she could only tolerate 5-6 days on feed before we had to drop to dioralyte again. They tried to re-start feed and everything that they put in was just coming straight back out again. she was in such pain she had to have a continual infusion of morphine to keep her comortable.

we werent getting anywhere. even after the antibiotics were stopped they couldnt get her to tolerate even 5 mls an hour of feed. she was put on TPN which is feeding throgh a vein...no a good long term solution bwecause of the side effects opn the liver etc but for short term it was just what she needed.
they also started high dose steroids.
within 24 hours the diahorrea had stopped and she was sitting up on the bed, not needing as much morphine and smiling that absolutely heart melting smile of hers.
The consultant said that it was definitely inflammatory bowel disease but that the steroids should sort it out. his collegue said that they didnt honestly really know what was wrong but ashe was behaving like a child with inflammatory bowel disease.

then...they tried feed again.

and along weith it the teeth grinding started as did the picking at her hands until they bled. still they pushed up the feed and eventually turned the TPN off. withing 24 hours of coming off TPN we were sent home..still on steroids but on a reducing dose.
by the evwening of the same day Seraph was back to diahorrea, horrible mucousy stools and a painful tummy...ooh not forgetting the bleeding bottom.
I phoned te childrens hospital in the morning and the dietician told me to stop the feed and put her on dioralyte and then gave me a plan to follow to try and build up feed again.she said she thought the consultant hadnt realised exactly how fragile Seraphinas bowel had become.

Needless to say we have had to 'relax' that plan a bit and take it a bit more gently even than the dietician said but we are getting her to tolerate feed very very slowly. she is grinding her teeth again and her tummy once again today looks bloated but she is smiling on and off...by beautiful brave girl. I so wish she could tell me how she was feeling, whether her tummy hurt...so i wold know whether to increase feed again or to let it be.
She was so much better on TPN but that is not the answer...thats a last resort.

we have had no follow up phone call from the dieticians either here or at the childrens which is disappointing...we feel like we have just been left to 'get on with it' as they dont have any answers.

we are due to go back to the childrens hospital on the 15th...if we can keep her 'well' till then.

Im sorry if this post has seemed a little bleak...but this, at this point in time is a brief glimpse into what Seraphina has had to face on a daily basis due to the ravaging effects of Rett syndrome and its associated conditions.

October is Rett syndrome awareness month. Throughout this month many parents of litle girls who suffer just like my little sweetheart have been posting to raise awareness of this little known disease...a disease which has taken so much from my gorgeous girl.including her ability to speak.

However there is hope...Rett sydrome has been reversed in mice..it is potentially REVERSABLE.
But research takes money...PLEASE consider donating ...any amount you have to the Rett Syndrome Research Trust http://www.reverserett.org.uk/   and help speed a cure for my darling Seraphina and girls like her.

Thank you.