Genetic Testing

[Clucky]

Hi all, I'm new to this site (and new to babies!) so I will introduce myself first...

My name is Clucky, I am 33 years old. My husband is 43 years old. We have been married for 18 months and live in South Western Sydney. I have just been given the opportunity to work from home which could change our lives enormously.

Thus, we have recently decided that now that we are comfortable in our lives and have travelled extensively so we are now ready to start trying to create our own family.

Anyway, I have a few issues, which have always made me think that I would never want to have children.

1. My sister was born with a rare genetic disorder. Sialidosis - Type I (Cherry-Red-Spot-Myoclonus Syndrome)
2. My husband has Type 1 Diabetes - (insulin dependant diabetes)
3. My husband was born with a non-functioning kidney and had it removed at age 8
4. I have PCOS

So, we have spoken at length about if we should try to conceive with all the risks of producing a child who may end up hating us for not creating them 'prefectly' (not that anyone is perfect, and I hope I havent offended anyone by saying this). And the only thing I can come up with is genetic testing prior to conceiving.

I have made an appointment at Liverpool Hospital to have some 'genetic counselling'. However, we can not get an appointment for 6 months!

In the meantime, I am hoping someone has had a similar experience and can shed some light on what I would have hoped would be an exciting time for hubby & I.

Thanks in advance for any insight you may give.

Clucky

[melbel]

As a long term type 1 Diabetic myself i can tell you that there are amany different genes that can contribute to type 1 D and not all of them have even been fully identified yet. Your husband may have none, one, some or all of these genes and even if you could test your embryos there is no guarantee you could eliminate the risk of type 1 completely. Because the exact causal factors of type 1 are still unknown to large extent it is hard to predict whether someone will get it... the environment and viruses are also believed to play a role so its really a tricky one. You can get a test done at birth which will search for the gene markers for type 1 but even if your child was to have these markers it does not mean they will get type 1.

Just to give you a guide because it is your husband who has type 1 you have roughly a 7% chance of having a child with type 1 statistically.

I don't know much about your sisters condition but if there is a gene they can test for you could potentially be tested before conception to see if you carry that gene, they would then be able to tell you your chances of passing it on to your children...If you do not carry that gene then you cannot pass it on type thing...

I hope that helps answer some of your questions....

[Clucky]

Thanks for the reply Melbel!

Your reply has put me at ease on the diabetes front (7%).

To be honest, I'm not too concerned about the diabetes, my husband is. He was diagnosed at 30 years of age and says he had a fantastic and full existence before being diagnosed, but says he couldnt imagine going through it as a child.

His neice has was diagnosed with type 1 last year at the age of 11 and she isnt having the best time of it lately, which is why he is hesitant. He has even notioned that he 'couldnt live with himself' if he 'gave it' to his children.

With my sisters disorder, there is testing that can be done, but I'm just frustrated that we have to wait 6 months for it. I have tried in vain all morning to find a private practice who will do the testing, but have been told that major hospitals are the only places I can have it done at. Apparently Geneticists dont go into private practice due to to lack of demand.

With me having PCOS, I'd rather start trying now, rather than later...

[HotI]

Hi

Has your sister or your parents ever had genetic counselling? Has your sister ever had genetic testing? You may be able to get in sooner by contacting the genetic clinic that they went to.

I looked up Sialidosis - Type I (Cherry-Red-Spot-Myoclonus Syndrome) and the reference i saw said that the condition is autosomal recessive. It also said that the condition is very rare (incidence 1 in 4,222,000 live births).

Every person has two copies of every gene. As your sister has the condition, she must have an error or 'mutation' in both copies of this gene.

Therefore, your parents most probably each have one 'normal' gene and one gene with a mutation.

Onset of the condition is usually before the age of 25, and so if you haven't had any symptoms the chances of you having the condition are low. Therefore you probably have at least one 'normal' gene.

You could have two 'normal' genes (1/3 probability), or you may have one gene with a mutation and one 'normal' gene (2/3 probability).

For a baby to get the condition, they have to inherit one gene with a mutation from Mum and one from Dad.

If you have a mutation you may pass it on to a baby, but unless your husband does too, the baby won't have the condition.

As it is quite rare, unless you are related genetically to your husband, the probability that your husband also has one of the genes with a mutation is quite low.

I hope that makes sense, i can answer any questions if this is confusing.

[Clucky]

OMG Kate, where did you find all of this information? It's fantastic!

I've been trolling the internet for hours and havent come close to anything like this!

All siblings had the testing when we were kids at Camperdown Childrens Hospital, but I dont remember the results, and unfortunatley mum isnt able to shed any light on whether I have 1 or 2 normal genes. I may try to contact the hospital and see if anyone can shed any light on the matter (though it has been over 25 years so maybe totally impossible)

If you have a second, can you post the link to where you found this info? I'd love to read it all.

And sincerly, thank you. You've gone above and beyond... I am truely thankful

[melbel]

If you have had the testing there will be records somewhere. You will have to fill in a form to request copies and expect a bit of a wait maybe because they will be in paper form in some archives somewhere I would guess, but they should still exist....

I would give the children's hospital a call and get them cracking searching the records up for you.

Also another thought is that is also possible that your sister may have this condition as part of a random genetic mutation which can happen. This would mean your parents would not have to carry the gene and would also mean that you and your siblings would be clear of the gene.

This thought occurd to me because my husband has a niece with a genetic condition called rhett syndrome. she has tested positive for the genes but neither parents have the gene so random occurrences can happen as well.

All food for thought..... but definitely get onto the hospital and start tracking your records...if nothing else it may help speed things up when you finally get into see a genetic counsellor.....you may not even need to see the genetic counsellor if the records show you are clear.....

[HotI]

OMG Kate, where did you find all of this information? It's fantastic!

I've been trolling the internet for hours and havent come close to anything like this!

All siblings had the testing when we were kids at Camperdown Childrens Hospital, but I dont remember the results, and unfortunatley mum isnt able to shed any light on whether I have 1 or 2 normal genes. I may try to contact the hospital and see if anyone can shed any light on the matter (though it has been over 25 years so maybe totally impossible)

Definately get in touch with the hospital. If your tests were done through a genetics unit, the results should still be there. The file may have been archived but they should be able to pull it out again. This may get you help quicker.

It's kinda strange but if you are already pregnant, you can often get into genetics clinics earlier. If you try to do the 'responsible' thing and find out info first you ended up waiting.

I used a couple of links, but this was the main one.

Sialidosis - Type I (Cherry-Red-Spot-Myoclonus Syndrome)

what sort of info are you after?

[Clucky]

Ok, I've just been on the phone with The Childrens Hospital at Westmead (they have all the records for Camperdown Childrens Hospital since it closed down).

What I have been told to do is ask my GP to request the records from Westmead. This will mean he will receive them immdiately rather than me having to wait an anxious 21 days!

So the ball is now in motion... I have an appointment with my GP for Saturday morning...

I have also been put in touch with a Dr Ken Maclean (clinical geneticist) from Primary Care Genetics, who can see me in about 2 weeks! So I dont need to wait 6 months as first thought! (He may charge more than the public system, but I'm so anxious it isnt funny!)

[juniper76]

I don't have any info to offer you on your specific issues, but I wanted to suggest that if you did find yourself waiting (hopefully not) you could always start charting your cycles (ie BBTs) to see whether or not you are ovulating regularly with the PCOS. That way you're not wasting the time.

Just a thought. I hope your appointment in 2 weeks gets things moving quickly for you and you get good news.

[HotI]

Great news! I came back to suggest you try through a women's hospital, or through your PCOS specialist, but you had it all organised.

Spend some time before your appointment to make a list of your questions. Take some paper and pen cos sometimes it is hard to remember everything when you get home. Will your DH go with you? A support person can help when you are trying to recall all the info.

Good luck

[HotI]

How did you go with the GP? Did he/she receive copies of your genetic tests?

take care,

k

[Dragonbub]

Hey Clucky - I can't add much other than to agree with Kate. My mother has a rare eye disease that is hereditable, and there is no cure or genetic test as yet. I was so worried that my little boy may have inherited, when I found out the risks were around 1:3000 given that my DH would have to be a carrier also. What a relief! So many weird and wonderful things "pop up" when we have kids, that we dont' realise the legacy of our ancestors until we have a black baby in an all-white family, or have a red head!

My intention is not to trivialise your feelings, because they are very real, but you KNOW the threat. You are doing a fantastic job in making the best possible life for your future bub.

Good luck hun

[Clucky]

Ok, so the doctor called me a 'twit' for stressing about it so much! I am not a carrier!!!!!!!!!! He also mentioned that between my 2 brothers they've created 9 happy little vegemites without any problem...

Anyway, that means all systems go... Lets hope I'm on the right track...

This is where I'm at so far...

• I've quit smoking (now smoke free for 15 days!!!)
  
• I've ramped up my exercise routine to 30 mins daily - also now have an exercise bike for rainy days... no excuses now!
  
• I've ensured my private health insurance covers everything I need for the hospital
  
• I've started charting my tempreture... which gives my husband a giggle every morning because he thinks it's time to play 'doctors & nurses'!!!
  
• I've been researching the hospitals available to me - thinking Liverpool Private
  
• I have an appointment on Saturday morning for a pre-pregnancy blood test
  
• I have cleaned out the 'contraception draw' Goodbye to condoms - hello baby books!

We have a holiday planned to Hawaii in October, so we've said we'll make that our 'last hurrah' holiday whilst we are still DINKS... One last romantic jaunt I keep thinking what if we conceive while we're over there and I've had a few too many ****tails????

Anyway, thank you to all you lovely ladies for your advice and suppport. It's greatly appreicated.

[HotI]

Great news! And good work on quitting smoking too.

Kick back and enjoy your trip to Hawaii. Bub takes a couple of weeks after conception to make blood vessels to share Mum's blood. Prior to this time, alcohol that you drink doesn't reach bub.