Primary Immune Deficiency/genetic implications for future kids?

[sarahdavida]

We recently find out our DS - now 3 1/2 - has a rare Primary Immune Deficiency...it is most likely X-linked Agammaglobulinemia (still have to get results of a genetic test to confirm) and he will have to have monthly IV Gamma Globulin infusions for life to keep some of his immunoglobulin levels up and as healthy and infection-free as possible.

It is a recessive X chromosome disorder which doesn´t seem to have appeared in the family for generations. We still have to confirm it - and then confirm inheritence or a new mutation...it´s definitely a surprise and if he did get it from me, that means i will have a 50/50 chance of passing on the gene to other offspring...if I have another boy, he will have a 50/50 chance of having the same disorder - and if I have a girl, she will have a 50/50 chance of being a carrier, which will have ramifications for their offspring, as well...I am starting to see the possibility of having more children dwindle and it is hard, even though right now I very focused on DS and making sure he is as o.k. as possible over the next few years, especially.

Anyone else out there a parent of a child with a Primary Immune Disorder? (or have one themselves?) - or have any experience with the similar discovery of being a carrier of a certain disorder, which would then affect any decision about having kids in the future?

It was difficult to find this out, but we are SO thankful we KNOW and can implement the treatment/lifestyle necessary early on, so that hopefully this will not be something so bad, in the end.

BTW, SOOO glad to still be BFing - I used to think it didn´t help him from getting sick AT ALL and would get more and more pissed off the more I heard people say, "Oh, they´ll never get sick - and if they do it will be more infrequent, not as bad and won´t last that long." I used to think "yeah right - that´s a joke for us!" ...but now I can see just how important it was for him after all and how much worse things could have been if he had weaned so much earlier!

[sbgrace]

I hope it's a new mutation? Have they tested you and you're waiting for results?

My son has a metabolic condition that would generally be x linked. In our case they don't have an identified mutation yet (just had another negative test for the specific condition) so we can't get specific results. However, I had testing and symptoms that showed I very likely have it and in that case for this condition all my children would likely be affected. It may have been spontaneous in me. I was told many mutations are spontaneous. My other son appears healthy but this is a progressive thing and appears different in people with the same condition depending on many factors. My other son may have some genetic material that is protective in some way. He may be triggered someday. He's being treated "as if" in any case based on my results and my more affected son.

Because this is a (nearly...research still ongoing) 100% thing and can be very bad we won't be having more children. I don't know what I would do in a 50/50 where there is treatment and it's not progressive. I don't know know. I hope you're not actually faced with that though--when will you know if you're a carrier?

[sarahdavida]

Originally Posted by sbgrace

I hope it's a new mutation? Have they tested you and you're waiting for results?

My son has a metabolic condition that would generally be x linked. In our case they don't have an identified mutation yet (just had another negative test for the specific condition) so we can't get specific results. However, I had testing and symptoms that showed I very likely have it and in that case for this condition all my children would likely be affected. It may have been spontaneous in me. I was told many mutations are spontaneous. My other son appears healthy but this is a progressive thing and appears different in people with the same condition depending on many factors. My other son may have some genetic material that is protective in some way. He may be triggered someday. He's being treated "as if" in any case based on my results and my more affected son.

Because this is a (nearly...research still ongoing) 100% thing and can be very bad we won't be having more children. I don't know what I would do in a 50/50 where there is treatment and it's not progressive. I don't know know. I hope you're not actually faced with that though--when will you know if you're a carrier?

to you, as well...

we are very lucky they have identified the gene mutation (not too long ago, either - mid 90s, I think)...we are just at the very beginning of this process, so we haven´t even had the genetic testing done yet. Making matters more complicated is that we live in Peru and they don´t do that testing anywhere in the country, so it has to be specially coordinated and sent out.

The first step will be to test DS, to confirm that he actually has that specific disorder with that specific mutation. If he does, I´m next for testing, to confirm that I am the carrier, or if it is a new mutation. If I´m a carrier, then my sister needs to be tested. If she isn´t a carrier, then my mom would test to see if I got it from her or whether it was sponaneous in me, etc., etc...it goes on. But if DS isn´t, then it´s not even an issue, so we´re in a "more than likely" scenario right now, which is almost worse than knowing for sure, one way or another.

It definitely puts the issue of whether or not to get pregnant again to bed for the time being. I certainly wouldn´t want to now, with everything that´s going on and the energy and focus I/we need for it...but it´s different to decide for yourself as opposed to having an "outside force" appear out of the blue and tell you, "you probably shouldn´t have any more children" when, in the back of my mind, I always imagined I would one day.

I´m trying to focus on the positive as much as possible and be thankful for what we have, including the knowledge we now have about DS´ condition and the ability we have to improve his health, not see it get worse.