and
Dr Ann Buj-Bello, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Centre National de la Recherche Scientifique/,
Institut National de la Sante et de la Recherche Medicale/, Universite Louis Pasteur Strasbourg, 67404, Illkirch Cedex, France
Q: My child was recently diagnosed with X Linked MTM, he is still in the hospital and has never been home - I need to learn a lot regarding daily care.Answer 1 of 4
My son is 2 years and 3 months old diagnosed with the 'milder' from of X Linked MTM too and was always able to breathe in air but as with your son, my son’s secretions was and have been the biggest biggest issue. I always say that the physical disability is just a non issue in comparison to the trickiness of secretions. I don't know what rubinol is - is it supposed to dry up secretions because if it is, we never found those kinds of drugs helpful - they just made secretions too thick to manage. And in fact our local (we're based in London UK) neuromuscular centre where the doctors are world experts on MTM told us they don't favour anything that dries up secretions in these children.
If my son had presented the way you're describing we would have assumed he had a virus, and the things that worked for him are as follows (and by the way to our great joy and eternal gratitude he has NEVER had a chest infection despite all dire warnings that it was inevitable:
lots and lots of rest and quiet
positional drainage i.e. moving him from left side to right side intermittently to make sure nothing drips into or sits on his chest. It he can't tolerate it for long, at least try it for as long as you can and then rest him in between.
nasal suctioning - he keeps so much gunk in his nasal passages it's unbelievable, but a regular good naso-pharangeal suction is really important
lying on his tummy - I know that babies are not supposed to be put to sleep on their tummies but as he was being watched all the time and certainly on saturation monitors we always rested him on his tummy once we realised what a phenomenal difference it made to his ability to breathe when he sick and weak. Now that he can tell us what he wants when he's sick he always wants to lie on his tummy, and if he's too weak to roll completely over by himself he'll just keep pointing at his bed or floor mat just in front of his face until he's put flat. He even does it in his sleep!
when he was very small (under 1) and sick we would drain him over a big pillow on our laps - it seemed to really help to bring things up (but he needed a big rest after any such session)
cutting feed volumes but just making them more frequent; the affect a full tummy can have on his ability to breathe is just astounding. We can have given him a feed (he has a gastrostomy) and he can be saturating quite low and obviously struggling and the minute we extract some of the feed the problems go away . It seems that he relies his diaphragm so much to breathe that if a full tummy pushes up against it he can really struggle, particularly if he's weak and sick and his intercostal muscles are working even less.
watching for constipation, again a full intestine can push up on his whole system to his detriment.
when he was as little as your son, if a virus was particularly exhausting him, a little oxygen in a head box (a clear Perspex box that goes round the baby's head) with some added moisture really really helped. The last time he needed that was just before he was 1 and he had about four other instances. He never needed it more than 2-3 days.
keeping fluids up - when I tried to find out about managing secretions I read a lot on the MDUSA website and read the descriptions from adults with other muscle weaknesses about how they managed their secretions and what it felt like not to be able to swallow them (I figured someone old enough to describe the sensations might provide useful advice) and every single thing I read seemed to talk about extra water, more and more water. Our boys lose a lot of fluids through suctioning - no one really knows how much you and I are swallowing that our boys get taken out but our physio was at a conference recently that said that we all produce 1.5 litres of saliva a day! Once we upped his fluids beyond the 'normal' age limits of total fluid intake his secretions seemed much much easier to manage, and he started having days and nights where he wasn't suctioned at all. That said though he still needs masses when he's sick - the minute he coughs something up when he's sick we suction it away so he doesn't have to exhaust himself by dealing with it.
