Dressing for the weather..

Early walk, big shop,
Chilly day, hats and scarves on..
Turns out - overkill!

Generally good day.  Mr KCNQ2Haiku freaked me out last night by saying at bedtime that he thought Ben was going to sleep badly, so when Ben woke at 1am for a wee I was really panicky, I spent ages awake worrying that he was going to struggle but he was completely fine and I was awake for nothing!!  Oh well, could have been worse!  
Mr KCNQ2Haiku took Ben out for a long early walk this morning so I was able to chill, then I took him to Tesco to buy some bits for a roast dinner on tomorrow's bank holiday :-)  Ben was so giddy in the shop.  He loves the 'scan as you shop' feature and was bouncing through the aisles collecting items and returning to the trolley to scan, shouting "I'm in charge of scanning".  He was also apparently in charge of pushing the trolley which was mostly fine, just a few instances of abandonment! Sometimes I feel a bit on display in these moments and apologetic to other shoppers but he was so full of joy and not getting in anyone's way (really) so today I just enjoyed the show!  We had lunch and then Ben and I went for a walk in the woods.  I said I thought it was chilly and asked Ben if he thought it was hat weather yet (I do like a hat) Ben rather embraced this concept and decided it was hat, coat, scarf and glove weather.. :-/ I managed to keep his gloves in my bag but he still started the walk in full get up (see photo).  Predictably it lasted a Very Short Time until he was Unbearably Hot and then I had to carry all the accessories.. but still, he was happy.
After the walk I stewed some fruit for a crumble for tomorrow (we're definitely leaning into the bank holiday!) and listened on catch up to the KCNQ2 conference held in Germany yesterday.  The last speeches were in English and I was listening to one from a Belgian scientist called Sarah Weckhuysen who has been studying the gene mutation for years.  We met her once at a conference in Southhampton and have kept in touch.  She thinks Ben's case is interesting as he is not as severely affected as some other children (despite it feeling so intense for us). She's queried whether his mutation is mosaic (not present in all cells) or even whether it was actually inherited mosiacism (we have both been tested and are negative but if the mutation is mosaic for one of us and not in all our cells, it could have been missed).  She's also looking at other genetic factors that could be more protective in Ben's case.  She's currently running a study and we've sent Ben's DNA and clinical history so she can dig into what causes different outcomes.  The hard thing about research like that is that you know it is unlikely to help Ben and our family but might be really powerful in providing information and even cures for future generations.  It's a no-brainer but it does make you wish he was born 20 years later...  Anyway, it's been a while since I've listened to any KCNQ2 presentations so I enjoyed it and learned some new stuff about why KCNQ2 genes are so integral in the early years, they code the potassium channels which she said today are the only thing that provide a breaker for signals in the brain initially.  Subsequently there are other breakers, things like GABA develop and that's one of the reasons seizures reduce in KCNQ2 patients as they get older.  But despite that KCNQ2 continues to be present in the body throughout life, if it continues to be there it apparently means the body has decided it's useful therefore it must continue to DO something (even if scientists aren't entirely sure what that is right now).  So if treatments become available, children/adults such as Ben who's seizures have resolved but are still demonstrating developmental delay and behaviour challenges, may still have benefit.  I'm waffling, so I''ll stop but I just found it interesting and the scientists are so inspiring.  Happy Sunday all.