Februari 2012
3
Inhoudsopgave
1
Introductie ...........................................................................................................................................4
1.1
Zorgpad...............................................................................................................................4
1.2
Samenwerking ....................................................................................................................4
1.3
Patiëntenvereniging............................................................................................................5
1.4
Leeswijzer ...........................................................................................................................5
2
Very Long Chain Acyl-CoA Dehydrogenase Deficiëntie (VLCADD) .......................................................6
2.1
Presentatie .........................................................................................................................6
2.2
Diagnose .............................................................................................................................7
2.3
De behandeling...................................................................................................................7
3
Begeleiding - Kinderen .........................................................................................................................9
3.1
Patiënt en/of ouders.........................................................................................................10
3.2
Casemanager ....................................................................................................................10
3.3
Kinderarts metabole ziekten .............................................................................................10
3.4
Vaste medebehandelaren: diëtist .....................................................................................12
3.5
Vaste medebehandelaren: kinderneuroloog.....................................................................13
3.6
Vaste medebehandelaren: kinderfysiotherapeut..............................................................13
3.7
Vaste medebehandelaren: kindercardioloog ....................................................................13
3.8
Overige betrokken zorgverleners......................................................................................14
3.9
Overige aandachtspunten.................................................................................................14
4
Begeleiding – Volwassenen .............................................................................................................. 16
4.1
Patiënt ..............................................................................................................................17
4.2
Casemanager ....................................................................................................................17
4.3
Internist metabole ziekten................................................................................................17
4.4
Vaste medebehandelaren: diëtist .....................................................................................19
4.5
Vaste medebehandelaren: neuroloog...............................................................................20
4.6
Vaste medebehandelaren: fysiotherapeut........................................................................20
4.7
Vaste medebehandelaren: cardioloog ..............................................................................20
4.8
Overige betrokken zorgverleners......................................................................................21
4.9
Overige problemen ...........................................................................................................21
5
Kwaliteitsindicatoren ........................................................................................................................ 23
6
Consensus zorgpad VLCADD ............................................................................................................. 24
7
Disclaimer.......................................................................................................................................... 24