newly pregnant daughter 4th generation risk

[dianesistern]

Hi everyone have just found out i am to be a grandmother a bit of a shock my daughter is only 16 so now i have the worry of 4th generation inheritance and not sure how to go about getting the right information. She has had tests done for herself and she is showing some syptoms of immunodeficiency but as she is so young my consultant immunologist at papworth wont look after her and the childrens department locally have no idea, i know if i mention the problem to the midwife they will not really understand. Diane

[keziah]

Hi. I have a 3 week old baby and have IgA deficiency and a few other immunodeficiencies (they are still deciding what right now!) and in my pregnancy I was able to tell the midwife that I was at increased risk of infection and listed all the infections I had had during the past 12 months. Could your daughter do something like that? Then see her Gp so they know that if she gets ill she is monitored more? Thankfully apart from 2 not so nice infections I didn't get any iller than normal, so I hope your daughter bears well in this pregnancy. The only difference I had in my care was that during labour I had IV antibiotics to prevent infection and thankfully all went well. The immunologist told me they can start testing my son when he is 6months old, but they will not test unless he struggles to gain weight or is ill more than a normal baby.

Hope all goes well for your family

Kezzie.

[s162216]

The likelihood of your child/grandchild having CVID is very remote as for one thing it depends on the subtype of CVID, some are inherited where both parents need the mutated gene and others where only one needs it and its thought that the great majority of cases are new mutations during sperm/egg production.

The problem is that the specific genetic mutations are only known in 6 very rare subtypes of CVID so genetic testing for now is not possible and it would cost a fortune (~$30,0000 a person) to map every CVID patients genetic makeup to identify other mutations.

It is important to remember that CVID type mutations are rare (~1 in 20,000 - 50,000 in the UK) and secondly that there are many subtypes of it, so unless the 'partner' also has the same mutation for that CVID subtype or is a carrier for the gene than its unlikely that it will be passed down to offspring

You might want to ask your daughter to be referred to a genetic counsellor as I know thats one service that both the QMC and Addenbrookes told me about.

Sam

[liziJ]

Hi Diane,

I have CVID and my twins will be 3 next week. When I found out I was pregnant the advice from my immunologist was basically "watch and wait" - ie be on the lookout for the classic warning signs as my children grow up. As it happens I did have some concerns about my son's susceptibility to all manner of coughs and colds and so he had a blood test last year. Thankfully all results came back normal.

My understanding is that it isn't possible to test for PID before babies are born, but that if they do have PID it will be diagnosed quickly because we'll know to look out for it.

Wishing you and your daughter all the very best!

Lizi

[john]

hi diane,
congratulations! a new baby in the family is always a good thing.
like lizi and sam say really.
in all the time i talked to concerned mums and dads-to-be when i was at pia, i can't remember a single case of the baby being anything but healthy and normal.
there are rare and special cases where the genetic risk is high, but if this were the case you would know about that by now.
keep us posted on the progress of the pregnancy, and wish your daughter all the best from us!
take care - john

[liz2mac]

Hi iane,
I am a Mum of two adult children and a Granny of four. I had my children before I was diagnosed (27ish years ago) and you may imagine I was worried about them. My son has a slight problem of infection if he cuts himself and my daughter has had long term problems with sinusitis. She has just been diagnosed as having a slight primary immune deficiency, with somthing called manan binding ligand deficiency, but even that is partial, and also has a problem with producing totally useful antibodies to certain types of bacteria. She does produce them, but they don't always work. She has a history of sinusitis and some skin problems. She is know on azithromycin 3 x weekly and is enjoying a better quality of life. Of my Grandchildren, the two eldest appear to be fine, the 4 year old has problems with chest and ear infections and is seeing an immunologist to rule out any PID. His base antibody production is fine, we just await results of more complex tests.
The guilt I felt when my daughter was diagnosed was shocking. Intellectually I knew it was not "my fault" but I couldn't shake off the feeling that I was responsible. She was great as were my elderly parents, who pointed out that if anyone was to bear responsibility it was the genetic pool of our family long past!
We had to wait until now to get the four year old tested as the normal immune system is incomplete before about 3 - 4.
Diane, I cannot tell you what a joy and pleasure being a Granny is, those children are the light of my life and make me laugh all the time. The four year old even wants to help me with my infusion..... a little interesting, but we manage.
Best wishes to you and your daughter, do let us know how it all goes,
Liz

[dianesistern]

Thank you everyone for all your encouraging messages and i am going to look forward to being a grandmother despite the not so ideal situation that being that she is so young and i am just glad that we are all aware of the genetic implications of cvid in my family and forwarned is forarmed. Diane

[liziJ]

Diane, no doubt you've got a lot of challenges ahead, but I'm sure these will be far, far outweighed by the joys your grandchild will bring you. And of course the plus side of your daughter having a child when she is so young is that you'll be a young grandma who can really enjoy playing with your grandchild and being involved in the things they love to do!

Liz, your comment about your 4-year-old grandson "helping" with infusions made me smile. My daughter Layla (who will be 3 on Monday) is my self-appointed "nurse" and abolutely loves having lots of little jobs to do when I'm setting up my infusion. When I first started explaining it all to her she misheard "needles" and so now thinks that the little plastic red caps that cover the needles are called "noodles" ... which she collects from me each week. They have found a number of uses in her dolls house as bowls, hats, stools etc.

Lizi