Genetic testing?

[xLaura]

My ds2 is 13 weeks old and at birth was discovered he had ''dysmorphic features' so was sent for genetic testing as they suspected some sort of syndrome. It was then discovered he had heart defects, he's got one very large hole and narrowing of an artery.

Since it's become apparent he's very stiff, isn't able to straighten his legs, arms, fingers, however pysio is helping with this.

We go to the first genetic appointment next Monday and I'm just wandering what to expect? I think everyone is assuming were going to get an answer as to what's going on with him, but I just don't think we are yet. When he was born they said it could take months and months to come to a conclusion. Don't get me wrong I want answers so bad but I don't want to get my hopes up and end up leaving still being in the dark as to what's wrong with my baby. I've sent off a family history tree with known medical conditions of family (however nothing relevant to my son) and sent photos of him already.

 

[alibaba24]

Prepare for the fact genetics can sometimes take years to get a diagnosis. Sorry you are having to go through this its so worrisome. My DD met with a genetics consultant but they decided not to do further testing

 

[xx_danni_xx]

I agree with the above... It can take years to get answers I'm afraid. We went when my son was about 6 months old and they decided to do no further testing but now they suspect he does actually have a rare genetic disease so we go back again in January to begin genetic testing and research and they have already told us it could be 10/20 years until we get answers it just depends on what they find and the advances in technology.
I hope you don't have to wait so long, my son is now 3 and we still don't have an official diagnosis, I've now accepted it'll be years when we do!
Good luck at your appointment next week

 

[xLaura]

Thanks for your responses. Yeah I am aware it can take years, they even said they might never find what's actually wrong with him. I just hate the not knowing and want to have some sort of idea what the future is going to hold for him, but I'm fully prepared that that's prob not going to be the case.

It's just so hard as he's got so many different medical complications that when I'm trying to explain to all his different doctors (as they seem incapable of reading his bloody notes) what's wrong with him I've no idea what I'm telling them. And everything just seems to be put down to his 'condition' which I think is bccoming a scapegoat for everything! It's so frustrating!

 

[xx_danni_xx]

I could of wrote what you said myself! It really is so frustrating. We've also been told we may never know what his condition it, this genetic testing were going for is kind of my last hope! Like you I just want to be able to plan for his future or at least prepare for it, whether he'll walk or talk or live independently. All questions which I'm probably never going to get answers to!
Have they diagnosed your son yet? What do they suspect?
We get a different diagnosis every time he's seen! They always tell us it's all related but half the time it's from me googling things and then I go back and tell them what I think and they just kind of agree and say oh yes it's that! Lol I've got a lot of hope resting on this genetic testing and I just hope they can give us answers, and I hope you get some answers too!

 

[xLaura]

I'm sorry your going through this aswel.

They haven't really told us anything tbh. I over heard his cardiologists when they were talking amongst themselves say they had suspected piere robin but apart from the small mouth and heart defects nothing eles fits so I don't think it is that, but who knows. But none of his doctors have actually said that to me which was kinda annoying as he's my child and I feel asif I have the right to know if they suspect something rather than just saying they've got no idea when they clearly had because it must of been in notes somewhere.

My mum is convinced he's got marfans syndrome, (from googling) which he does fit all the category's in all fairness but weather the doctors suspect that I've no idea. I'm hoping we get actually get told as to what/if they suspect anything on Monday.

 

[xx_danni_xx]

Yeh I'd definetly tell them tomorrow that you suspect marfans syndrome and just explain why,and they may agree with you or at least run some tests to try and find out. I know with my son I suspected he had a condition called septo optic dysplasia (same as Katie prices son, Harvey) so I told them and they agreed with me and diagnosed him with it, it was only after an MRI that it was revealed he didn't actually have it, but it still annoyed me that I was Able to find a diagnosis from googling, yet they didn't have anything! Stupid really. Even now I suspect he has another rare condition so will mention it when we are next seen.
I hope it goes well tomorrow for you and you get at least some answers! Let us know

 

[Peanut78]

Hey there, my son has neurological issues. We have had some genetic testing done (micro-array) through our paediatric neurologist at Great Ormond Street which came back showing no genetic link. We are now considering seeing a geneticist for further testing.

Also, just wanted to give you a big hug - it's tough going through all this with your LO.

 

[xLaura]

We saw with the geneticist today and he said he was unable to come to any conclusions today (I never expected him to) but he thinks that he's got a really rare genetic disorder which has only 14 known cases ever. He personally has contact with one girl with it and her and Riley are so similar apart from Riley having heart defects. None of the children diagnosed have heart conditions but he says with it being so rare not much is known about it and the other children could just be lucky not to hbe heart defects. If it's this then he shouldn't have any learning difficulties and it will just be physical difficulties which hopefully can be worked with. Because it's so rare the nhs don't do testing for it and we would have to wait for a medical study to come available to be able to have testing done which would be next year sometime, but the results would come back fast (6-12months which is fast for genetics) if we were to have another child chances are 25% of being affected.

He wouldn't tell us what it was because he doesn't want him to be labelled with it because it could be detrimental for him if it turns out not to be that and infact something more serious or less serious which I do understand I spose.

 

[xx_danni_xx]

Hi, glad you got some answers! Least your on a road now to hopefully getting a diagnosis. A year isn't to long to wait so that's good news unlucky though that he's got such a rare condition, how do you feel after the appointment? Are you thinking about having more children? When we first got seen by the geneticists just after my son was registered blind, they told us they couldn't give us a percentage but that it's extremely rare in siblings, so we went ahead and tried for another knowing the risks and whilst pregnant with my daughter we had extra scans and they were all reassuring. She was born totally normal and we saw the genetists again when she was about 6 month old (she's now 10 month) and they said that they now think whatever disorder my son has, only affects boys so if we were to have another and it was a boy then chances are he'd have the same condition. We already decided we only wanted 2 kids though so now we just want to know what the chances are for our daughter obviously when she's older.

My son is due an MRI again soon as the genetists requested it, she thinks she's seen something on his last MRI that could be a rate genetic disease, hence why they've put us forward for this research. It's such a long road isn't it! I remember when my son was the same age as yours, and wondering when it'd ever stop, the tests, appointments etc, it's never ending! You end up almost missing those baby days due to always worrying about the future, well I did!
What ways will it affect your son physically? Will he be able to walk etc? My son has a weakness down his left side, almost like cerebral palsy so he wears special boots and a splint and has Physio, OT. He still can't walk independently or use his left hand properly but he copes amazingly, it's shocking how well they adapt, especially because they've never known any different. I know your son is still only so young but he sounds like a little fighter
Sorry for the huge essay lol

 

[xLaura]

It's weird because I feel sort of relieved that he's confirmed hes got something even though I'm still technically in the dark and it isn't confirmed what it is. Deep down I knew there was something wrong with him but family/friends kept saying 'oh no he's just fine don't worry' so I'm glad that people can stop with the comments and just accept it. I knew it was going to be such a Long road ahead of us so I was prepared for that.

Whilst pregnant I decided he was going to be my last, I had a horrific pregnancy as I had hyperemesis and was hospitalised so many times but since he's been born I just haven't felt our family is complete. I want one more. Not going to lie I'd love a girl, I'm fully aware chances are I'd have another boy but I don't want to always regret not having another, but now I think isit selfish knowing they could be affected
Even though he's still perfect to me and if we had another one they would be perfect no matter what. So the answer is I just don't know. I don't know if it's just hormones ATM which is making me want another or what.

We have hospital or other appointments nearly every week for one thing or another it certainly does feel asif it's never ending. We have 4 appointments this week alone.

He didn't say how it will effect him physically, he wants him to have a fully skeletal scan done so they can see how his bones are, but he thinks his stiffness issues are more joint problems. He's already under physiotherapy, and were meeting with the orthapedics next week so will hopefully know more from there point of view then. The physiotherapist said if she had the facilities at her office she would of put him in splints, so just got see if the orthapedics agree with her or not.

Your son sounds asif he's doing great despite everything he's facing, your right they adapt amazingly because it's all they know, they really are little miracles. I hope the MRI goes well and they can concentrate on investigating further what they saw last time so you can finically get some answers.

 

[xx_danni_xx]

Yeh we had the same with friends and family, and it gets annoying after a while cos you know there's something wrong but it's like their fobbing you off, obviously there just trying to make you feel better but it doesn't lol we even had the HV tell us at my sons 8 week check that she thought he just had weak muscles in his eyes, we got referred and turns out he was blind, I was fuming with that HV for not taking my worries so serious, needless to say I didn't see her again! We're currently waiting for a referral for our daughter now because she cant bear any weight at all on legs. So once again we've got all the family saying oh she'll be fine hopefully it's nothing etc, I'm just like let's wait and see rather then making guesses, I've learnt from the first time to not guess but wait for the facts!

Yes I understand what you mean about wanting another, especially like you say with 2 boys it'd be lovely to get your girl! I think if our second would of been a boy id of wanted to of tried for another regardless of the risk, where as my OH said no chance. 2 kids and that's it, he's even booking in for snip now lol

I remember the days of endless appointments, it does settle down eventually I promise we're down to about 2/3 a month now but they do all tend to come at once!
I hope you all manage to have a good Christmas, and it's a special first one for him just try and put it to the back of your mind, that's what we're doing now, don't let all the unanswered questions and appointments etc spoil your day xxx

 

[xLaura]

My oh says no more babies and is on about wanting the snip but is too much of a wuss to get one so I've still got time to change his mind yet haha.

Thank you, I hope you all have a lovely Christmas aswel and aren't waiting too long for the referral for your daughter and they take you seriously and don't try fob you off to 'wait and see as she gets older'

 

[xx_danni_xx]

They already tried that at the doctors last week lol luckily I've got a good health visitor now who wouldn't take no for an answer! Letter has come today and Iv managed to get her a cancellation so we go hospital on 5th jan rather then the 5 month wait they told me I'd have if I couldn't make that appointment!

Good luck persuading the OH lol you might find that if he did book the snip he could change his mind, cos it's so final and you know then there's no going back. When my OH was on about booking It he had doubts just because of how final it is, only after genetics said that any other boys we had could be effected that it set in stone that we was done!