Can anyone tell me if chromossome testing is really nessasary for my daughter ??

[mummyloveslucy]

Hi, my 4.7 year old daughter has had a series of assessments for a speech dysorder and a developmental delay of about a year.
It's routeen to have a blood and urine test after the assessments so they can cover everything.
We went for the blood test yesterday, but the Dr didn't know what bloods to take as there was nothing in her notes. She phoned the assessment centre but they didn't seem to know either. She then said she'd do the basic blood levels and hopfully this will be o.k.
When she took the blood, it came out so slowly and it was very distressing for my aughter (and me) She tried twice to move it around to get the blood flowing more which was awful. It was horrendous seing her so upset.
The Dr has now phoned to say they need to do chromosome testing. She spoke to my husband and he told her that we'd discussed it and we didn't want her to have any more blood tests. She managed to persuade him, saying it was important. (We were told it was optional)
I'm going to cancel the appointment, as I can't put her through it again. I feel extreamly bad that I alowed it in the first place. I wondered if it was really nessesary.
Am I right to cancel it? If it was for a health reason, that would be different. What do you think?

bump

tbh you can only tell by hindsight if chromosome testing is necessary - depends if they find anything or not with the tests. I would allow them to do the blood test, but ask for a phlebotomist to do it (as their job is primarily taking bloods so they will be really really good at doing it and dealing with people/kids who are anxious about it).

I think I'd have it done

OK - it might not yield anything. Unless they have an inkling of where to look - its a bit needle / haystack. However, there's a chance they COULD find out what is causing yr dd's delays. That in turn could better inform the doctors of any other things to look out for - and that is pertinent to yr dd's health

I understand yr exasperation and yes it is horrible seeing yr child distressed having blood taken but this is being done with her best interests in mind

My dd has a v rare chromo disorder and I am very glad I know what it is. Its v wooly in terms of giving us any sort of prognosis but its an umbrella I'm glad of - it gives some sort of context or clarity of confusion to all the other health related problems that have appeared over the years

Er not to say that all chromo problems mean compromised health. Obv there is a massive spectrum

Also it might be that they suspect something that is treatable with medication, or a hereditary condition that has implications for the rest of the family. can you arrange a discussion with the dr and explain your concerns? If they explain what exactly they are testing for and why it might help you make up your mind.

Thanks, I'll look in to it a bit more.
No one in our family has any chromosome abnormalities.

I'd prefere it if she could have it later on when she's forgotten about the first time, and by a phlebotomist. It wouldn't have been so bad at all if she hadn't kept moving the needle.

that's what I thought too

turns out I have a balanced chromosome translocation, as does my mother and prob going back further in the family too. There were mc and sb's in the family - but none of us ever thought this was anything other than bad luck. Other than in reproducing, my mother nor I have any effects of the bt - we do not have any missing or duplicated genetic material, its just got a bit rearranged

Don't wish to alarm you. I think most chromo issues are sporadic, one off type things that just happen v early on in pg

my dd needs to be cannulated lots and I know what you mean about when they are wriggling the needle around.. tis just horrible

Even if they find somthing, surely the treatment of her speech dysorder and delays would be treated in the same way. We'd just have a name for her condition.
I feel as if she's making steddy progress in her development now anyway.

herjazz- how awful for your daughter, and you. I couldn't imagine going through it regularly.
Surely they could just leave the needle alone once it's in even if it takes longer to drain?

I think I would have it done too. can you get them to give you that topical cream you put on about an hour before the needle is inserted as my dd says it does work (i think it is called Amitop or Amitopf or something similar). Then you could use it at home before you go for the test. My dd has had a great deal of blood tests. If the person doing it mucks it up first time i instantly ask for someone else now, as i can't bear seeing them jab dd trying to find a vein; often in hospitals the most junior docs are given the job of inserting the needles for practice and i am afraid i do not like them practising on my brave little girl. YOu may find it easier rather than going to the dr surgery for this test, to go to a specialist person at the hospital: we have a Childrens Day Beds unit at our local hospital and they are so much more clued up about taking blood. so on balance, have it done but make it easy on your self and your dd.

We were offered a blood test for our DS and we decided against it. DS was given a diagnosis of Aspergers/ high functioning autism (two weeks ago) without the blood tests and the issue wasn't even raised during the consultation. I know that sometimes something like Fragile X can make a child appear to be autistic but I couldn't put DS through the blood test experience (so I know how you feel.) DS can't cope with the Dentist or hairdressers and these type of experiences just seem to set him back. I feel that there is a bit of an obsession with pinning down a diagnosis rather than treating the symptoms. Not sure what you should do - as I still have nagging doubts despite what I have said - but I just know that neither I or DS could cope with it at the moment.

As cloelia says try getting some local anaesthetic cream (I have a severe phobia of blood tests - due to some horrid experiences as a kid, and I use this stuff ).

I think they may have withdrawn Amitop now, however what I get is a cream called Emla. It's only available on prescription so go and see your GP for some in advance of the appointment. It really does make a difference.

With respect to testing, we had every test going for dd. Sadly we still have no diagnosis for her(dd has CP,PMLD and visual impairment), but I'm glad that we did try to find out IYSWIM. Certainly for dealing with DLA and SS it seems to make life a whole lot easier if you have a clear dx .

Good luck with whatever you decide.

I think how "necessary" it is depends on the conditions they are testing for and how good the match with your daughter's symptoms is. The chances of finding something, and the potential treatment benefits are something only the doctors can tell you. There are so many genetic/chromosomal conditions and they are so varied that there's no single answer to that one.

Tbh, bloods are so routine for DD1 that though I'm sure your experience was traumatic I'm finding it hard to advise, it's just not been our experience, DD1 is another one who observes proceedings with interest. I think you had a bad doc but tbh I also think it was worse for you watching than your daughter and they do pick up on that stress. If you got an experienced phlebotomist, local anaesthetic, and probably sent your OH in with her instead, I think it could have gone a bit differently.

So - in summary. Benefits unfathomable. Unpleasantness avoidable. I'd do it - but I haven't been through what you did.

Like r3 and other, bloods are so routine now, I hardly blink at pinning my screaming DS down while they try to access his little veins which are now shot to pieces. He is a strong boy and sometimes it takes 3 of us, but we have no choice.

Numbing cream does help and it appears to be used as standard now (here, anyway), but poor DS never has a vein at the typical sites - for his GA he was bloody covered in the stuff (both elbows, wrists and ankles) but thankfully they waited till after the gas to try and sort him out.

I would definitely have it done. There could be a lot to gain

btw it helps them find the veins if you are well hydrated (once made the mistake of having an 9am blood test without any drinks beforehand...).

DD has her done in the summer

I was very concerned how DD who has ASD, would react (hair brushing, teeth cleaning are a complete nightmare!) But we got there an hour before, they put on the Emla cream they even had a "play leader" to play with her and take her mind off the wait and it was much less traumatic than a visit to the hairdressers!

Staff were fantastic! Can't rate them highly enough.

Still waiting for some of the test results though....guess that chromosomal analysis is complicated and takes a while.

As someone has already mentioned, there is a genetic condition called Fragile X which appears similar to ASDs. The doctors like to rule this out before they diagnose ASD. I have a friend whose child tested positive for fragile x, and subsequent testing revealed that she was a carrier for this, she had no idea before her son was diagnosed.

I understand how difficult the blood tests are, my son (ASD) had to be held down by 3 nurses so they could take his blood for the test. One possible consequence of refusing the blood test may be a delay in diagnosing your DS, and possibly difficulties getting a statement for school.