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Genetic testing

(19 Posts)
keepingthefaith Sun 18-Sep-11 21:19:28

Hi, all

Long story short, my DS needs to go for genetic testing for possible 22q deletion syndrome.

So, mumsnetters, how much DNA do they need and how stressful is this going to be?

Lougle Sun 18-Sep-11 21:21:09

It will be only as stressful as any normal blood test. DD1 finds them very distressing, but lots of children are fine with them.

MangoMonster Sun 18-Sep-11 21:21:58

I think it's usually a blood test and the nurses are very good, so it shouldn't be stressful, it wasn't for us. Others may have more knowledge regarding the specific test you're having.

keepingthefaith Sun 18-Sep-11 21:37:35

Phew, had visions of phials and phials of blood being extracted from the wee soul!

He is also awaiting assesment for some ASD traits and sensory issues, so I am thinking it may not be as straightforward as we think. Obviously the nurses will be used to dealing with "challenging" children, but, hey ho, you cant help worrying.

Best laugh is, DH says he will come! He who cant stand the sight of blood or needles lol! Dont know who will need most looking after!

MangoMonster Sun 18-Sep-11 21:40:00

My ds has asd and he was fine, nurses are very good, he didn't even notice. Dp hates needles and faints when he has to give blood, but he didn't notice either!

indiastar Sun 18-Sep-11 22:34:07

My ds (8) went for genetic testing last week. Nurses were fantastic, he had magic cream on both hands, he sat on my lap with his arm behind me and didn't even feel the needle going in. He has ADHD and other learning difficulties, they said if he couldn't sit still for the test they would bring in a play specialist to help. It all went very well though.

spiritsam Mon 19-Sep-11 16:14:01

Hi my DD just had deletion of Chrmosome 22 , came up on bloods . We are waiting to see Genetecist to find out more . x

occasionalposter Mon 19-Sep-11 16:57:29

Hi spiritsam and keeping,

Our dd2 has 22q11 deletion. She was diagnosed at 4, as she is now 12 my memories of the genetic testing are a bit hazy but there certainly wasn't much blood involved - just the ordinary amount I think.
DH and I were also tested to see if it was inherited or de novo so we could assess the need to test her siblings and or have counsellng about further pregnancies. Wasn't much blood taken from us either.

If you haven't come accross it yet Max Appeal has loads of info.

Best wishes.

hazeyjane Mon 19-Sep-11 20:57:27

Spiritsam do you mind me asking, did your dd's chromosome deletion show up in a first set of genetic blood tests?

keepingthefaith Mon 19-Sep-11 22:31:07

Thanks occasional, will def look at that.

This is a new road for us since DS was diagnosed with GDD aged 2 (he is now almost 7). He also had major heart surgery at 10 days old and took a very long time to recover, so we are a bit apprehensive of yet another invasive procedure, albeit a fairly minor one.

However, we need to know whats gone wrong with him and make sure we are doing all we can.

Can I ask what symptoms your children have as mine does not have all of those listed on 22q deletion foundation website?

spiritsam Tue 20-Sep-11 07:59:36

Hi hazeyjane yes DD was having first bloods done for Fragile X , Thyroid , Cealiac e.t.c

spiritsam Tue 20-Sep-11 08:10:05

Hi keepingthefaith
DD is 3 yrs 4 months had a dx of GDD , S and L delay , very challenging behaviour , Autistic Traits , tummy problems , possible Vitiligo ( white pigment patches ) hearing problems .
I think it can vary and a child does not tick every single box but am no expert x

keepingthefaith Tue 20-Sep-11 10:57:53

spiritsam my DS also has tummy and hearing problems, low muscle tone, poor mobility and lots of sensory issues. He also has a droopy eye but does not affect his sight.

Awaiting appointment for blood test, just want to get it over with.

Thanks to all who posted, its always good to share your worries

babs2011 Tue 20-Sep-11 12:23:13

my son went for blood test last friday, it had to be booked again for this friday as he screamed the place down was't so much putting the needle in it was when they were extracting it he screamed and screamed ...
the nurses was lovely said due to him having very small vain's ...
i felt so sorry for him and not looking forward to the next attempt sad.
i did find the face's of other parents amusing when walking out the room god help what they were thinking lol

keepingthefaith Tue 20-Sep-11 16:31:04


Mmmm, methinks we are going to have the same problem.

AND you have to go through it all again! Best of luck!

occasionalposter Tue 20-Sep-11 17:29:31


I think there are about 180 different things on the list of symptoms of 22q11d!!
Our DD has only a few - velopharyngeal insufficiency (VPI) being the main one that led to her diagnosis. The main effect of VPI is poor speech (DD was incomprehensible for years despite excellent and prolonged speech therapy although she now sounds completely normal!).

The VPI also meant that as a baby she was slow to gain weight and prone to bring up her milk through her nose (not a pretty sight). She is of small stature but weight in proportion now - she did better with solids becuse the VPI caused problems with sucking and swallowing. It also encourages ear infections and glue ear as the eustacian (sp?) tube doesn't drain properly if the palate isn't moving correctly - could be related to hearing problems?

DD does have some learning difficulties and someitmes fails to understand 'social niceties' but has no other autistic traits.

I know there is a multi-disciplinary 22Q11d team at Addenbrookes in Cambridge and also at Great Ormond Street. DD has been seen at Addenbrookes by various people including a psychologist to help her understand her diagnosis. They have always been very helpful.

Hope some of this is vagule relevant and helpful!

babs2011 Tue 20-Sep-11 18:07:36

Thanks you too smile

supercalafragalistic Tue 20-Sep-11 18:35:39

My son (6) had blood taken in June for genetic screening (he has DCD, ASD and other things) We took some favorite sweets as a reward and he got to choose a magazine from the hospital shop after. It was a very small amount of blood and the nurses were great at distracting him. Hope it goes well!

keepingthefaith Wed 21-Sep-11 15:08:10

Thanks again everyone smile

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