MCADD deficiency?

[monkeynut]

Just had a phone call from a Dr saying that my sons heel prick test has come back positive for this, and has arranged an urgent appointment for tomorrow in London.
Anyone have any experience of this?

 

[clairem1980]

Didn't want to read and run but was curious when I saw the title as I've never heard of it. Did the doc give you any more info? I hope the appt goes OK today x

 

[monkeynut]

Thanks, just that it is a metabolic disorder where the body is missing an enzyme so can't turn far into energy.

 

[StanLove26]

Didn't want to read and run either. Hope your appointment was ok. xxxx

 

[CARNAT22]

How did your appointment go?

I hope you were given the advice / support you need?

X

 

[monkeynut]

Thanks, the appointment went well, we met with a team of Drs, nurses and dieticians. It is a lot to get our head around but the team answered all our concerns and questions and really were fantastic.
We have to feed max every 4 hours minimum, it should be easy to manage day to day, the problems will arise when he gets a temperature/illness that makes him lose his appetite or has vomiting and/or diarrhoea... In which case we have an emergency regimen to follow every two hours of glucose drinks, and if he can't keep them down or won't drink them then it will mean going to hospital to have IV glucose.
We now have direct access to our local hospital and various info to give them (as its so rare most Drs won't know how to treat it).
I'm feeling better about things, just nervous of the first time he gets ill (if he gets ill up until he is 4 months we have to go to hospital immediately).

 

[CARNAT22]

Glad to hear the appointment went well. Sounds like its going to take some getting used to but I'm glad you have been well informed. Knowledge is power!!

Did they say anything about the jabs? Will bub be able to have them?

X

 

[bigbee]

Please the appointment was a success and you seem reassured

 

[monkeynut]

Glad to hear the appointment went well. Sounds like its going to take some getting used to but I'm glad you have been well informed. Knowledge is power!!

Did they say anything about the jabs? Will bub be able to have them?

X

He can still have all the normal jabs, we just have to be extra vigilant in case of a temperature, so will have to give him calpol an hour before he has them and continually afterwards.