help please regarding new diagnosis

[archiepoo]

hi my 15 yr old son who is very healthy has just been diagnosed with Alpha 1 . hes Pi z i wasnt given any other allele (M ,S or Z) so i dont know what this means! ive tried to find info and havnt been successful ,i really need to understand exactly what this means -is he a carrier or will he be a sufferer??

[McSousa]

Hello. Sorry, I haven't any idea but someone will give you some answers soon here. I do hope you get some info soon, it all sounds very confusing!

[zedgirl]

Hi, sorry to hear about your son's diagnosis. The early days can be very stressful as you try to gather as much information as possible to understand what this means for your child. There are a few others on this message board with children of different ages (and stages of alpha-1) who may be able to share their experiences.

As for me, my son was diagnosed when he was 10 weeks old (PIZZ - same as your son - I think the other alleles are only reported if they show up in the phenotyping, and so PIZ with no other letter is PIZZ). He's now 20 months and doing really well - apart from 6-monthly scans and blood tests, and a Vit D supplement no one would know there was anything wrong. We are very aware that Alpha-1 affects people very differently, which is why you might want to hear from others with older children, and can change over time but I do hope your son's diagnosis at 15 and otherwise good health all points towards him being at the better end of the spectrum, if I can put it like that. I met a 65 year old with Alpha-1 (PIZZ) a few months back - he'd done all the things we've been told our son should never do (ie drink, smoke and work in dusty environments) and was still going strong. It gave us hope that with better information about how to keep healthy things might not be as desperate for our son as they felt when he was diagnosed.

Do you have any other children? We have two elder children who were subsequently tested - one is a carrier (MZ) and the other unaffected. My understanding is that carrier status should have no detrimental effect on someone's health (other than the risk of passing on the faulty gene to any children they may have, of course).

Good luck to you and your son. CLDF is an amazing source of support.

[bluenat77]

Hello. Sorry to hear about your son. I completely understand your frustration, I remember having so many questions when my son was first diagnosed. He's now turned 6 but was diagnosed at 14 weeks. Matthew's on meds, urso acid, dalivit drops (multi vitamins) and vitamin e, we used to get seen at kings every 3 month's, then 6 months, then yearly and now every 2 yrs so he's doing really well, except for the meds you'd have no idea there's anything wrong, he's an active, happy 6 yr old and considering we were told to 'prepare ourselves for the worst' as he was so poorly we couldn't be happier.

I assume if your son's been 'diagnosed' that's he's a pizz or pisz (s being where the mutation of the gene is not as bad) what happened for your son to be tested? If you are unsure ring the hospital, am sure they would help. Where are you being seen? Kings have liver nurse specialists you can ring who are brilliant and I've emailed Dr Baker before who has replied promptly and been great. My 11 yr old daughter was also tested but thankfully she is completely clear. The cldf have some great literature which they can send you, i still refer back to it after all this time.

Lots of good health wishes to you all, any more questions feel free to ask.

Natalie

Xx

[archiepoo]

hi thanks everyone for the responses, shaun was having antibiotics for his acne and the Gp just wanted to do a blood test as routine as they are strong antibiotics, came back with raised ALT so we repeated in a month and it came back the same ,same again a month later so she ran a liver panel and his globulin was 2.2 (i was told normal being 1.5 to 3.5 ) so she asked for alpha 1 test which came back as Pi z ,no second allele so that what confused me but ive been investigating (thankgoodness for www) and the Z by itself it seems is a different mutation again! so i dont know whether its a variant of ZZ (i suppose it must be ,but was really hoping it wasnt) .we are waiting to be redirected to paediatrics to get more info ,which im praying wont take long .. i really need to know everything -i can deal with anything if i have all of the info ! we are in swansea by the way -. anyone else every heard of this single z ? xx

[ckjm]

Hiya. Sorry to hear about your quandary. My son was diagnosed pizz at 7 weeks.

Like others here, I would advise speaking to one of the nurse specialists at Kings - they were of great help to us. Also, definitely speak to the CLDF; Laura and Dave are fantastic - either call or catch them on Facebook. As for testing siblings, our son was our first so we didn't have that dilemma, but we DID have our second son tested as a baby. In my opinion, a person has a right to know if they have or could be carrying a potentially life threatening illness - the age at which they should find out is debatable (I shan't force my attitude to this on you!). I was obviouly a carrier (pimz) and as it turned out my father was pizz, making my siblings cariers too. However, they did not test their children who were all older than my son. My niece got married last year and had herself tested - her husband did so also - with a view to starting a family. If my husband and I had known we were both carriers would we have started a family? I dont know, but i dont like to think that we have knowingly contributed to a faulty gene pool and in utero testing is dangerous.

You must try and be positive - I know that's easy to say! and DEFINITELY find out what the one allele means. My son has been good for the last few years (touch and go as a baby) and at 14 he is doing really well - you would not know there was a health issue. Take care and don't let yr son stress over this .... x

[benjollie]

Hi, sorry to hear your news. My son was diagnosed July 2012 at the age of 3 as ZZ, from about 6 weeks old he had a lot of wheezing and various drs treated it as asthma so he went onto a steroid inhaler at 6mths old. He was put under our local hospital for skin and asthma and they finally carried out some allergy tests and blood counts which showed raised liver enzymes, this was repeated a month later and was a little bit higher so we got referred over to Kings in London, this is when we got told. This was massive shock to us and hard to get our head round, we have had a lot of support from David at CLDF you can find them on Facebook as well and also a group called alpha 1 support group. Ben will be 5 in November and so far so good, he struggles with coughs, colds and infections and is having checks every 6 mths for ultrasounds and bloods. We had our 1 yr old son tested and he come back a carrier MZ like myself and my husband. I hope you get some answers soon and good luck xxxx

[archiepoo]

Hi everyone thanks so much for your stories ,im touched you all took the trouble to reply to my panic! ive finally got sense out of the diagnosis and it turns out the reason they only gave 1 z is because they only report on the mutated gene ,if there no other allele shown its because its normal - so shaun is MZ ,ive been through every emotion in the last couple of days -what a rollercoaster!

[bluenat77]

That's fabulous news. Am really pleased for you all. Xx