Wow. A month since our last posting. What does that tell you? Well, thankfully, that Luke is doing well. And that we've been going through the busy end of summer/back to school period of course. Lately we seem to have established a rhythm that works well for Luke. And if it works well for Luke then you can bet it works well for us. He's sleeping better and continues to eat very well by mouth, as well as tolerating his tube feeding with the new "allergy-free" formula we are using. In fact sometimes it's hard to get him to stop eating, and an obvious by-product of that is he's growing like a bamboo shoot. So things are "stable" but certainly not standing still. As he grows, so we have to keep his medications under constant review. A week ago he was experiencing some significant, but thankfully short, pain episodes. It would suddenly come on; he would scream the place down for ten minutes, waving his arms around, and then as quickly as it started, it would stop, to both his and our obvious relief. There seems to be nothing we can do to help him when that happens, and in fact the more we try to do something the worse it seems to get. So we discussed this with his neurologist and we agreed to increase his gabapentin dose (this is the drug that helps with the neurological pain). That seems to have done the trick, for now at least.
We all went off to Cocoa Beach over the Labor Day weekend to play in the waves on the Atlantic coast(check out the photos page). We had a great time, and Luke was very chilled-out just resting at the water's edge and enjoying the feel of the sea lapping at his legs while his brother and sister showed off on their body boards and a new addition to the toy collection: a skim board. The journey there and back was uneventful, despite nearly running out of petrol (err... I mean gas) in the middle of a major thunderstorm on the way back (where are all the gas stations on US528?). Dad was sweating it but nobody in the back of the car was any the wiser.
We still have Luke's Angels coming over a couple of times a week to give us nights off. This is great, because on those nights we know we are going to get a chance to sleep right through, without even having to get up to do Luke's night time meds. The scouts (Pack 25) are doing the yard every two weeks, so things at home look ship shape, at least on the outside. A big, on-going thank you to them. Sometime in the next month or so Pack 25 will be organizing a car wash in support of Dr Escolar's group at the Pittsburgh Children's Hospital, so that promises to be great fun and a worthy cause.
Some good news from Italy: a research group in Milan seems to be having some success treating patients with MLD (look on-line for a paper by Biffi et al titled Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy). They are using a virus to deliver a functional ARSA gene into stem cells from patients with MLD. When they put the cells back into the patients it seems to result in normal production of the Arylsulphatase A enzyme, which is the thing that Luke lacks. If you can do this for babies with MLD before they show symptoms then it may stop the disease ever showing itself. How cool would that be? It's very early days, and nothing that will be of any benefit to Luke (he's too far down the track) but it is wonderful to think that one day this horrible disease, and other horrible diseases like it, will be a thing of the past.
Best wishes to all.
We all went off to Cocoa Beach over the Labor Day weekend to play in the waves on the Atlantic coast(check out the photos page). We had a great time, and Luke was very chilled-out just resting at the water's edge and enjoying the feel of the sea lapping at his legs while his brother and sister showed off on their body boards and a new addition to the toy collection: a skim board. The journey there and back was uneventful, despite nearly running out of petrol (err... I mean gas) in the middle of a major thunderstorm on the way back (where are all the gas stations on US528?). Dad was sweating it but nobody in the back of the car was any the wiser.
We still have Luke's Angels coming over a couple of times a week to give us nights off. This is great, because on those nights we know we are going to get a chance to sleep right through, without even having to get up to do Luke's night time meds. The scouts (Pack 25) are doing the yard every two weeks, so things at home look ship shape, at least on the outside. A big, on-going thank you to them. Sometime in the next month or so Pack 25 will be organizing a car wash in support of Dr Escolar's group at the Pittsburgh Children's Hospital, so that promises to be great fun and a worthy cause.
Some good news from Italy: a research group in Milan seems to be having some success treating patients with MLD (look on-line for a paper by Biffi et al titled Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy). They are using a virus to deliver a functional ARSA gene into stem cells from patients with MLD. When they put the cells back into the patients it seems to result in normal production of the Arylsulphatase A enzyme, which is the thing that Luke lacks. If you can do this for babies with MLD before they show symptoms then it may stop the disease ever showing itself. How cool would that be? It's very early days, and nothing that will be of any benefit to Luke (he's too far down the track) but it is wonderful to think that one day this horrible disease, and other horrible diseases like it, will be a thing of the past.
Best wishes to all.