Hi world, Max is now 11 and doing really well. Working on toileting now and communication, PECS, not huge progress yet but we keep at it.
After seeing the increasingly broad spectrum of MWS people on the Facebook MWS Community page, I asked the legendary Dr. Meredith Wilson about the difference between a mutation vs deletion of the ZEB2 gene.
My rather naive question:
“Does a gene mutation rather than a gene deletion mean fewer facial phenotypes, and does that mean, possibly, fewer of the classic MWS traits?”
Dr. Wilson’s very patient answer:
“It’s a bit complicated; some background: less than 15-20% of people with MWS have deletions, which take out all of one copy of the gene.
Most people with MWS, maybe about 80-85%, have mutations (changes in spelling of code) within the gene. Gene mutations are further classified into different types based on the effect they have on the gene’s protein product (nonsense, frameshift, missense etc).
Nonsense or frameshift mutations: what happens is that usually the gene stops making a full ZEB2 protein product – so there is not enough and it is like a deletion in effect.
Missense mutations: ZEB2 protein is still made at the usual amount, but it is not normal, so does not work as well.
Most MWS patients so far recognised and tested have nonsense or frameshift mutations.
In our experience most with these mutations seem to have a fairly similar range of outcomes to those with deletions (except for those with really big deletions that also include lots of other genes).
The missense type mutations are the rare ones (so far reported anyway) in MWS: only a few patients have been published. They have been milder or atypical, but it is too early for us to say missense mutation in ZEB2 always = milder effects, and we already know of at least one exception to this (a severely but typically affected person who had a missense mutation).
What we do suspect is that there are likely more people who have these missense mutations but have not been recognised as having MWS, so they have not had the ZEB2 gene test considered.
A new approach to gene testing for a person with an “unknown” diagnosis is testing many, many genes, sometimes from a selected panel of perhaps 200 genes, sometimes testing all genes.
This type of testing is expensive but gradually becoming more available. With this testing, sometimes unexpected mutations turn up in ZEB2, and then doctors get the clue that it could be MWS, go back and review features and – yes, it fits.
So we expect more people with mild MWS (or milder conditions related to ZEB2 mutations), may be diagnosed this way in future.
We are very interested in this aspect.”
Feeding can be a real issue. So we use this hand sling to hold Max’s spoon in place. It’s really easy to make – wetsuit fabric with a + cut in each end, for plastic spoon (he hates metal.) Wetsuit material is strong, stretchy and dries pretty fast. HINT: you can just buy an old wetsuit at an op shop and cut it up.
Thread through a vinyl wrist band with velcro (ideally sewn) onto the ends.
Fast drying materials best, this apparatus gets incredibly messy :))
We’ve found Max didn’t respond to learning sign language at all. Other kids with disabilities did better with signing, for example some of Max’s Lifestart friends with Down Syndrome picked it up and ran with it in spectacular fashion.
Rather than signing, we’re working – slowly – on PECS or picture communication. Many kids with MWS are able to point to what it is they want – toilet, food, drink etc. This is obviously a major breakthrough with a non verbal communicator. In Max’s case, we wants to tell us stuff – but doesn’t have any high-level methods yet.
We do read a lot of meaning from his eyes – he’ll look at things meaningfully, for example he knows his mum and dad, brother, bus, bed, drink, food – he will look at ‘it’ when the word is said.
Here it’s obvious there’s intelligence. Maxi thinks about things, reacts and communicates. He just needs time to process and get back to you 🙂
One of our lovely, amazing and talented carers, Bev in Sydney was like a ray of sun for Max. He loved hanging out with her and she taught him to click with his tongue – which he uses a lot now to say “YES! YES! YES!”. One day, as she passed him back into our care, I commented on how much Maxi loved her company. After a long pause, as we watched Maxi play, she said quietly, and with a sudden tear in her eye, “Yes….but believe me, I get much more from him than he’ll ever get from me….” She felt Maxi was her Zen, her Jiminy Cricket, her gentle little Angel of Truth. I think she was right.
Hi to all. I’ve finally got time to update a few things here, and will be much more active. I’ll also have a look at the Facebook posts I know many are now doing.
To those who’ve understandably asked why we’ve not joined the Facebook conversation, I have privacy issues with Facebook posts on such a personal thing as MWS, so will be doing all Max’s story items on this site instead.
I’ll also finally update some stories about the fab carers and organisations we’ve met on our journey, in Sydney and Brisbane.
But enough about me – let’s hear from you! Any images, funny/heartwrenching/informative/cute stories or just basic living-day-by-day adventures are welcome – email me your stuff and I’ll post it so this site become a richer place.