So much has happened since my last post. We had a lovely Christmas all at home together something I treasured and wanted so much after the previous Christmas. Seraphina was well for it and enjoyed the unwrapping whilst being able to hide in the safety of her room when all the hustle and bustle bacame too much for her.
February 1st bought her surgery date. she had had botox in her legs but alas this time it had no effect and the serial casting just left her with grade 3 pressure sores after 48 hours in plaster.So this time they did tendon and muscle release surgery and she was in plaster casts for 6 weeks. The results we have from this are great. She has AFO's on day and night but her feet are in a nice 90 degrees now instead of the pointy-toed ballerina she was before.
March wasnt so good. we spent most if not all of it in and out of hospital.
sudden bloating of stomach, tried to aspirate gastrostomy and nothing came out.in a LOT of pain,pale and clammy,then started retching when I started pump feed and every time she retched green bile came out into gastrostomy bag. she then started fitting.
I called ambulance and went to hospital.they diagnosed a bowel obstruction as xray showed massively dilated loops of bowel. got transferred to childrens hospital (by this time she had been off feed for a while) tummy was slightly softer. 2nd xray still showed dilated loops of bowel but NO obstruction(meanwhile she had started to pass wind again). She was put on IVI maintenance and taken to theatre to put in portacath as her veins are very bad. when she came back from theatre she started coughing, was diagnosed with a pneumonia on left side 48 hrs later along with an ecoli urine infection. We tried again and again to
built up feeds slowly as she kept bloating out and then going down again though not so bad as before. once we got her on around 40mls an hour we were discharged to build up feed at home.
5 days later sudden extreme pain,bloating etc just like before.phoned surgeon who said he didnt know really what was going on could be another volvulous twisting and untwisting or chronic intestinal pseudo-obstruction down to a 'rett thing' and as long as she was hydrated and weeing then carry on. By this time she also had chronic diahorrea. Then we spent several hours off feed,then 15mls an hour dioralyte with me syringing in more every hour, still getting green bile in gastrostomy.then onto 9% feed which she hated and seemed to cause her pain so been on codiene.Even her normal meds seem to cause her pain for some reason.have stopped and started feds several times.
she was re-admitted and once again put on an IVI but was on a ward with other children and managed to pick up rotavirus (due I think to the fact she was so run down by this point). No tests were carried out/ no bloods or anything as it was no longfer deemed neccessary so after a frank discussion with our surgeon where he basically said he didnt know what to do we left the hospital and went home to try and build up feeds there.I asked for a disk with her xrays on in case anyone else had an idea what was going on. They have booked us no follow up.
We had real trouble trying to get her feed up..she kept bloating out (not as distended as before but pretty uncomfortable looking), mucousy poop, tummy pain and still this rash on her bottom, back and hips as soon as we introduced her milk feed again.
I phoned the dietician out of desperation and said that I thought somehow she had developed a kind of gut intollerance to her feed or something as it was causing so many symptoms. Thankfully she said that she had heard about this kind of thing only once before with another Rett girl (was nice to talk to someone who didnt think I was a complete nut case! ). She didnt know much about immune response but admitted that it sounded likely particularly with her response to antihistamine.The other case she had heard out turned out to be an inability to metabolise/cope with too much carbohydrate and so she switched her to a different feed.
So, she agreed (as Seraphinas weight had now fallen from 23kilos to 18.5kilos) to trial Seraphina on this feed and the rest, as they say, is history...we switched from Neocate Advance to something called Elemental 028 extra and she is tolerating full strength feed and running via her feed pump on 85mls/hr over 18 hours..within around 48 hours the rash she had had completely gone, we have only 40mls aspirate in 24 hrs, which for Seraphina is pretty amazing!, we have no bloating, no mucousy stools, no blood, no need for painkillers and shes even starting to get the colour back in her cheeks :)
The other change we have had is the introduction of a drug called Benzehexol. Its a drug primarily used to treat parkinsonism. It was given to Sraph to try and prevent the dystonic spasms she had but the other effects have been quite miraculous...she no longer has much in the way of tremor, she can now point with her index finger and this has enabled her to access an Ipad. We now know that she can do simple jigsaws by touching the piece and then touching wher it should go...and the piece jumps into place,something she couldnt do with a normal jigsaw because she hasnt the hand skills.
The ipad has been wonderful for both of us as it not only relieved some of the frustration and 'locked in' problems she has as a girl with Rett but also gave us a glimpse of the enormous potential she has. we use it on a daily basis along with her touchscreen computer with the added advantage that it can go anywhere with her,something we have found invaluable.
April has been very up and down.although feeding is going well she seems to pick up bugs very very easily. At this moment she has another stoma infection and a UTI as well as a bit of a tummy bug. Im hoping that as she recovers from last month and puts a bit of weight back on , that she will pick up a bit.
Yesterday we saw the Neurologist. Seraphina has been having some very scary episodes where she will seemingly choke and then stop breathing, she goes very very blue when this happens and you cant predict when it will happen. The neurologist seemed to think that this will become more frequent..most likely Rett related due to autonomic disfunction but there is also the possibility that there is an element of epileptic activity in this and the extremely unsettled/teeth grinding episodes she is also suffering with. His advice for now was to see how it went and use Midazolam when this happens to see if it helps.
The other topic of conversation was further genetic testing for us and Seraphina as she may also have an underlying progressive degenerative disorder, we discussed it and decided that we would rather not know. A tough one but knowing wouldnt change or alter her treatment in any way, she is already classed as life-limited so as far as we were concerned there was no need to know.
So here we are, where we go from here who knows....