Tuesday, 24 December 2013

The difference a week makes

I am going to use an American term here, because I can't think of a British one that is printable.

Rett Syndrome sucks.


Not only are the girls "trapped" in their bodies, unable to express themselves and profoundly disabled, but they have a host of medical complications that continually evolve to further compromise the quality of their lives, and increase their suffering.

And for every medical complication comes its own medical team and series of appointments. Each complication then overlaps with the others and every time you put in place something to try and manage one complication, it seems to make another one worse. I wrote here about all the appointments we end up going to. Well, we have had a small break from appointments (purely by coincidence) that has allowed Jess to have her first half term at school pretty much appointment-free, which has been good. However the appointments have since been beginning to stack up, and we are back to averaging around two a week.

Jessica's ability to swallow has deteriorated, and we are struggling to keep her hydrated (she is currently "drinking" by being fed thickened fluids on a spoon) and to take her medicines without her coughing and spluttering. Mealtimes are also difficult, as she has a good appetite but meals just take so long as she is now often so exhausted after school that her swallowing is even more compromised. She had a Videofluoroscopy last week which showed that she is struggling with swallowing, and supported the medical advice that Jessica needs a gastrostomy.

However, a gastrostomy can often make reflux worse in girls with Rett Syndrome and we are (I think - it's hard to know) barely controlling Jessica's reflux with maximum medication. So the surgeons are now considering also giving Jessica an operation to try to control her reflux at the same time as the gastrostomy, a Nissen Fundopliction. Now I don't like the idea of this at all, but neither do I like the idea of Jessica being in pain due to reflux again. Equally, the dentist feels that it may be a good idea as currently the acid from her reflux is causing the enamel to wear off her teeth. A Nissen Fundoplication would mean that her reflux is controlled by the time her adult teeth come through so they would not be damaged by reflux.

So, Jessica is going to have a few more tests to establish how severe her reflux is, and the surgeons will then decide if she just needs a gastrostomy, or both a gastrostomy and a Nissen Fundopliction.
Jessica has also been reviewed by her Spinal Team. It has been decided to move from her Lycra body suit to a rigid brace to try to slow the rate of the curve of her spine, that I wrote about here. The downside of the rigid brace is that it may reduce her mobility even further, but this is already limited. She rarely crawls anymore, and is often reluctant to sit upright on her own now - something that she was doing up until recently. We were given the rather depressing statistic that around 60% of girls with Rett Syndrome, who present as Jess is now, will need major corrective spinal surgery before they reach the age of 10. So given this, and the fact that she hasn't really got much mobility to lose, it has been decided that it is time to try the rigid brace.
We also now have a sleep system - Symmetrikit - that we are using to keep her spine in a straight line at night. This is taking a while for us all - mainly Jess- to get used to and find the position that suits her best. However it does stop her moving around the bed quite as much, as we normally have to go to her regularly throughout the night to re-position her, as she is often at 90 degrees or has her feet on the pillow! 
Jess also went into hospital this week for a 48 hour EEG with video monitoring to see if any of her strange night-time behaviours that I wrote about here are actually seizures that need treating.  Initially, they said that no, none of the behaviours I had highlighted to them looked like seizure activity - abnormal, yes, but "normal" for Rett behaviour and brain activity. However a few days later they then they contacted us to say that, following a more detailed analysis of the data they obtained, they did see some seizure activity and as a result Jess has now been started on an anti-epileptic drug.
Normally, this would be devastating news but it has actually faded into the background in the light of what else has happened this week. While Jess was in hospital having the EEG, she started having trouble breathing at night, with long gaps between breaths and significantly falling oxygen levels when she was asleep. We have now been in hospital a week, with Jess on oxygen every night. She has had a slight cold (but not too bad for her) and one theory is that her (already huge) tonsils became inflamed with her cold, causing her airway to block when she falls asleep. So we are waiting to see if things improve when her cold gets better or if this is a long term problem which would need further tests to see if it is her tonsils causing the problem (obstructive apnoea) or her brain (central apnoea). Even if things do improve when her cold gets better, the problem stills needs addressing as she can't go into hospital every time she caches a cold!
With this in mind, the hospital are organising home oxygen and an oxygen monitor for us to monitor her oxygen levels at home should we need it on discharge from hospital (whenever that may be) pending further investigations or at any point in the future.
I can't believe all this has happened...
Home oxygen and an oxygen monitor. Seizures. A rigid spinal brace. All in the space of a week. The week before Christmas no less. With a gastrostomy, possibly a Nissen Fundopliction and now maybe having her tonsils out in the New Year.
Really???  Seriously???
Rett Syndrome sucks.

1 comment:

  1. I know your expression clearly as we have a daughter with Rett Syndrome too. Now we are living in Thailand and continue to have therapy every other day. You are not alone and keep strong for our girls:)


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