#1
Posts: 55 | Threads: 13
Joined: Apr 2011
Reputation: 0

  • VIP
Hi all, sorry to come on and moan again but feeling so sad. Our son Alfie has just been diagnosed with MECP2 dulication syndrome after almost four years of tests i think ive cried four years of tears in the last few days. All though i knew the possible outcome the reality that due to his condition he has a shortened life expectancy is really hard to come to terms with. then i got a letter to say i carry the same abnormality as alfie so ive passed it on to him, i know i shouldnt but i feel so guilty were now also coming to terms with not having anymore children, the risks are just to high theres also the prospect of having to explain this to his older brother. Think ive spent the last four years being the strong one and it's all coming out now which is not a bad thing but iam really struggling with this at the mo. i know i'll get on with it because i have to for my boys. thanks for listening just needed to get it of my chest with someone other than a family member x
were all angels in waiting!!
#2
Posts: 153 | Threads: 2
Joined: Feb 2011
Reputation: 6

  • VIP
You've got no reason to feel guilty, please don't be so hard on yourself. You've got a lot to cope with and letting the tears flow is part of coming to terms with it all. It's hard always being the strong one when things seem to be falling apart around you. Is there anyone other than family you can talk to? when we had genetic tests done we were offered a counsellor, if you get the chance it might be helpful.
Take care, xx
#3
Posts: 281 | Threads: 12
Joined: Feb 2011
Reputation: 0

  • VIP
I am really sorry to hear your news and there is nothing for you to feel guilty about. Please take some time to yourself and try to talk to friends or family for support. Big hugs. X
Things can be hard on occasions but well worth it!Heart
#4
Posts: 1,853 | Threads: 41
Joined: Oct 2009
Reputation: 13

  • Administrators
Hi hun, I've been exactly where you are! Euan was diagnosed with a life limiting genetic condition at 13months old after about 6 months of tetst. It was a complete shock, I felt incredible guilt as myself and his dad are both carriers and both passed it on to him. We have a 1 in 4 chance of having another child with cystinosis and for a long time put off even thinking of having another.

I would say, for now, don't think about that, learn as much as you can about his condition, what to expect, get into a routine of what life is (which you probably are anyway after 4 years) and then, once your feeling more conmfortable and emotionally strong, then think about your options. They can test for a lot of things now in utero so that is always an option to you....what I'm trying to say is, don't rule everything out now. What are your chances of having another child with the condition? Is it a dominant or recessive gene? We had another son 2 years after euan was diagnosed, he was born a carrier of cystinosis but is un affected by it.

Sending love and hugs...I know how tough it was to get such a diagnosis and I know how your feeling now. It takes time to get past this stage but you will and we're all here to listen when you need us Smile

Lucy xxx
#5
Posts: 55 | Threads: 13
Joined: Apr 2011
Reputation: 0

  • VIP
hi, thank you all for your kind words it really helps! yes iam lucky that i have two friends who have been through similar experiences one has a daughter who is albino and one whos children have long QT syndrome
and we were friends long before we had any children (NOT SURE IF THATS LUCKY OR FATE)

it's a bit of a long winded story but basically alfie had his bloods done in january of this year. we got a letter in april to say they had found an abnormality of his x chromosome but wanted my blood to investigate further and didnt want to say more in a letter and they would get us back when my results came through but in the meantime we saw his neurologist at alder hey who blurted out what was wrong with alfie and what the genetic team has found but couldnt back it up with any information because one it's not his field and two it's so rare.
As you can imagine i'am extremely angry in the way which we were told as it means were now coming to terms with it all on our own without the support of the gentic team and being fully informed and our appointment to go back to the gentic team isn't until january next year.
what i do know is that because it's and x chromosome disorder boys are symptomatic while girls are carriers and that theres a 50% chance of having a another boy affected and a 50%chance of a girl being a carrier so
i guess that means a 1 in 4 chance also.

thank you again it really does help to know others are going through it to x x
were all angels in waiting!!


Users browsing this thread: 1 Guest(s)