In what circs would genetic testing be recommended?

[MrsBobDylan]

I haven't a clue about any of this and think it's probably not the right path for ds but I wondered in what circumstances would a paed suggest genetic testing?

Background is ds 6 was born with one lighter patch of skin to the left hand side of his tummy. As he has got older, it is possible to see another on his arm and to the right of his tummy. He has two small birthmarks on his torso. He has been seeing an epilepsy paed because for suspected seizures, although we are agreed that he doesn't have epilepsy.

He is doing surprisingly badly at school - excellent social skills, really on pointe emotionally and physically coordinated, but baffled by the academic stuff. I am dyslexic and that would explain a lot.

However, lighter skin patches can also be linked to certain genetic conditions. Should I ask if they will do genetic testing or should I leave it be because it is very unlikely?

His next oldest brother has ASD and LD and has always gone to a specialist school. They have never suggested genetic testing with him even though I have often wondered if there was something else in addition to autism.

I think they tend to suggest genetic testing when there is no clear cause for delay/disorder in development.

So with your DS1 they may think the LD is a result of the ASD and be satisfied.

DD1 has had genetic testing because she has LDs, some physical oddities, historic epilepsy and a brain malformation. She goes to special school.

However, many children who are tested still don't come up with answers. DD1 was in the DDD study, which was the first mass array study, then on to 100,000 genomes. She still hasn't got an answer.

In our case, DS2 had so many things going on. Some were physical due to birth and others were cognitive. But it wasn’t till he failed his hearing test in Year 1 and I saw an audiologist of all people who asked lots of questions about DS2 in a more holistic way than before. Each doctor only looked at their specialism, but this one looked at DS as a whole child and said maybe he had a syndrome of some kind.
He’s under Great Ormond Street so I asked and they said they didn’t think it would turn anything up but he could have it done.
He had a microarray and has gone into the genome project. He does have a very rare chromosomal micro-deletion that encompasses a lot of his issues.
The genetics doctor said well done to me for pushing as she didn’t think it would turn anything up either.
Which is a long way of saying there’s no harm in trying. It doesn’t change anything for DS but some of the children with his deletion have heart problems so we were able to get that checked out and all fine. Ironically hearing loss doesn’t come under it!

Thanks for the replies. @Lougle you're right, my other son got an autism diagnosis very young and I think he may just have a lowish IQ.

@Anselve do you mind me asking in what ways your son struggled at school? At the end of reception, ds hadn't reached the national expected levels for his age. He moved school for yr 1 because we moved house and they were surprised that he couldn't read, write or do maths. They make him do a spelling test every week (although after a lot of pressure from me, he only does 5 words and they don't share his score with him) and it's utterly pointless. He can't even write the letters ffs.

He is working on saying his numbers in order up to 20 and reading single words. I'm dreading year 2 in September as he will be even further behind :(

Should I speak to his gp or wait until the next appointment with a epilepsy paed do you think?

DS2 was my third and premature and had a stormy start to life. Doctors said we wouldn’t know what effect it had until he started school. I knew he was dyslexic as soon as he started to read but had to wait a couple of years for everyone to agree with me because they thought he would ‘catch up’. He is about 3 years behind in reading/writing and a bit less in maths. Verbally he is his age or ahead.
I ignored everyone else and worked on the basis he was dyslexic. He is very, very anxious which doesn’t help with school work and probably has ASD. Luckily he’s at a brilliant specialist school and they treat him as he is.

It's very difficult, because you say that socially he's fine. A special school might not meet his social needs, even if it meets his needs academically.

Apart from spelling tests, are they doing other things to help him? In all honesty, going in to year 2 and still working on being able to list the numbers in order is so very behind - they need to do something to help him.

I would speak to the epilepsy paediatrician as they might do more referrals for genetics or have more experience than a GP. I asked DS2s neurosurgeon - I just felt he would be more open to the idea.

I feel depressed at how behind he is @Lougle. The school don't refer for dyslexia screening but I wondered about paying for an assessment privately.

Thanks for the info about your son @Anselve. That's interesting about the dyslexia. I'm glad he's at the right school, that makes a massive difference doesn't it?

DS' epilepsy paed wants to see him again because I mentioned the hypopigmentations to him so I will ask then. He is a nice, calm consultant so I trust him to make a good decision.

I wish I had kept ds at his old school when we moved. The head at this new school seems a bit cut and thrust and persisted in telling DS to 'hurry up' every morning because we are late having waited for his brother's taxi. I know that is irrelevant to the current situation but it irritates me that a man who wears a waistcoat cant accommodate our very valid reason for being late.

A psychologist tested DS2 at 5 years (again because I asked). He was very articulate so I couldn’t understand why he wasn’t picking up reading. It teased out some of his issues like poor working memory and his word recognition was weak in comparison to his general cognitive ability. She said it pointed to dyslexic tendencies.
At 7 when the school got an Ed psych in, he was suddenly severely dyslexic and how in earth was he coping. Well, the answer was he wasn’t. He has very good social skills and used those to compensate.
What is the specialist school like that your older son goes to? We saw so many and they all had a different feel and different cohort. The gap for DS2 just got wider and wider and it really knocked his confidence.

Your son sounds like mine - he could talk the birds out of the trees too!

He also uses his social skills to deflect attention away from the things he can't do. He is very articulate and yet I've just read in his school report that he doesn't recognise all his phonics yet.

My middle son (ASD and LD) goes to a school for children with 'Moderate learning disabilities'. Most of the children have asd, LD and some have other disabilities such as Down's syndrome and adhd.

It is perfect for him, he is completely off the wall unique and hilarious to boot. The school head describes him as the love child of Catherine Tate's Nan character and Father Jack from the series 'Father Ted'. She's got him spot on 🤣

What is your son's school like @Anselve?

Hope you don't mind me adding what's going on with us. DS has always had super dry skin. It was only last year that we finally got a diagnosis of ichthyosis.

After reading up on it, we've realised it's caused by a micro-deletion that can also cause ASD and ADHD and depending on the size of the deletion, learning difficulties. It can also be associated with heart problems and food allergies, shortness in females and eye problems.

I've been pushing for a year for an assessment for ADHD and genetic testing.

Finally got him referred fir ADHD yesterday but still hitting a brick wall over genetic testing.

He's finally

@BunnyRuddington

Hope you don't mind me adding what's going on with us. DS has always had super dry skin. It was only last year that we finally got a diagnosis of ichthyosis.

After reading up on it, we've realised it's caused by a micro-deletion that can also cause ASD and ADHD and depending on the size of the deletion, learning difficulties. It can also be associated with heart problems and food allergies, shortness in females and eye problems.

I've been pushing for a year for an assessment for ADHD and genetic testing.

Finally got him referred fir ADHD yesterday but still hitting a brick wall over genetic testing.

He's finally

You could always ring your local clinical genetics service and ask for advice. They may be able to help if a referral is warranted.

As an update, Both middle and youngest ds have been referred for genetic testing. Since I posted youngest has been identified as probably having ASD and ADHD. I think it'll either come back clear or as Fragile X.

Eldest ds has been referred for an ASD assessment so lots going on in our house, mainly of a shitty nature.