A question please

[jacqui]

Hi
I came across here when searching for information for a friend of mine. She has 8 mnth old twins and one didnt pass meconium for 48 hrs so bloods were taken. Initially they told her that he had only one gene but then she was called back and said they had also found C886 and wanted to start him on meds.
They have taken bloods from his twin but no results have come back yet. However the undiagnosed twin has always been very wheezy and is gaining weight very slowly despite always being hungry. He also have a very bad dose of bronchilitus and needed to be hospitalised for a week.

The one with a CF diagnosis is growing and developing at a much better rate than his brother and shows no symptoms, apart from the lack of meconium at the start.

My friend's 4 yr old daughter (also with a different rare chromasome disorder) died in a swimming lesson and it seems as if the paediatricians involved with my friends new twins are trying to protect her by telling her very little.

She does not have the internet and is a wonderful mother but does not even attempt to understand medical issues and so i tend to do searches, find information and 'translate' into terms that she finds easier. I look after the boys a lot myself and need to know all i can.

What I also wanted to know is if mucus can also build up in the ears? i know this may sound ridiculous but i know nothing whatsoever about CF and neither does she so we are both learning rapidly. The reason i ask is that the undiagnosed twin (they are not identical btw) seem to have no hearing and yet the doctors are saying this may just be a build up of mucus as he is always so chesty.

We are in the UK.
thanks so much for any information
Jacqui

 

[shamrock]

I can answer on the ears question. You can get build-up in the ears due to sinus problems and stuffy nose and general chest infections. Symptoms of cf Vary from different people. I for example don' t have an appetite, but I get chest infections. My friend with cf has a lot of stomach bowel and liver problems. Some have sinus problems. Also the severity of cf varies from person to person. Some are very lucky and can go 20years with little to no problems. Some can't go 20months.
But remember life can get hard but it's not all doom and gloom. They are 2young boys with the same wants as other 8month olds.
Have a look through some of the past topics, they may help!
shamrck female 17 w/cf <img src="i/expressions/rose.gif" border="0">

 

[jacqui]

Thanks very much.
It is better to be prepared and it does seem like he is showing symptoms of CF too. In the main they are merely two beautiful little boys but it is good to be prepared and to know how to deal with them and keep them as healthy as possible.

She gets the results of the second twin next week.

Also, the one with the diagnosis is happy to eat baby food but really seems to gag on bottles and is so fussy with them. He is by far the bigger of the two however. THe one without a diagnosis seems to want bottles all the time, is constantly hungry and yet is so slow to put on weight.

Do babies with CF have particular eating habits or are they all different?

thanks again

 

[anonymous]

If both boys have CF then the one getting treated for the disease will do better than the other not on the proper meds. This may be why the untreated twin is suffering....he needs to be on the proper enzymes/nebs to thrive. The first thing that MUST be done ASAP is a SWEAT TEST . This will rule out or confirm which if not both babies have CF. This is the only reliable test if the blood DNA test cannot confirm 2 mutations. In order to have CF the children MUST have inherited 2 mutations that cause CF...one from the mother and one from the father. The general test given at the hospital looks for the most common CF mutations( which is like 25-80 depending on the hospital) But there are over 1000 mutations that cause CF and some mutations cannot be picked up by current technology. If this is the case then only a SWEAT TEST can give you the answers you need. Make sure the sweat test is performed at a CF clinic or hospital with alot of experience. The sweat test is painless and for my son it took about 45 minutes to perform. It took 24hrs to get the results. I hope this answers some of your questions....the most important thing is to have both children tested immediately...the sooner the diagnosis the sooner they will be treated properly and get better.<img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[anonymous]

Thanks very much. The twin that didnt pass the meconium for 48 hrs has now had 2 sweat tests. Apparently the first one was borderline and the second was positive. He also has 2 gene mutations (i don't know what one is but she does remember C886)so has started medication about 2 months ago. We do not have any CF clinics in our area and only one hospital and they seem to know very little.

At some point i guess they will go out of our area to see a specialist but meanwhile it is difficult because their Mum doesnt ask any questions and yet expects me to provide the information, based on any details she has remembered from an appointment.

The one that is not doing so well has only had a blood test but no one has bothered to do a sweat test, nor do the paeds seem to connect the fact that one boy has CF with the fact the other has chest and digestive problems. They say he is asthmatic and have given him bricanyl nebuhalors for when he is wheezy.

I will tell her to ask for a sweat test for the twin with the hearing problems.

thank you again