Dd (7.5) needs genetic testing-how long does it take?

[Scareofgettingthiswrong]

I found out last week that dd has the majority of the hallmarks for Fetal Valproate Syndrome. I was on Sodium Valproate for the first 8 weeks of pregnancy and she has all the facial markers and a lot of the congenital,
physical and mental symptoms.

I have been fighting for YEARS to get medical professionals to listen to me, particularly with regards to her hypotonia and ASD. We have finally been put on the waiting list for an autism diagnosis, and she has been referred for orthotics for her tiptoe walking. Other than that, everyone has basically said I’m being ridiculous.

Our GP is going to call me on the 13th January so that I can ask for a referral for genetic testing. What is the wait like after that? I particularly want help with her hypotonia as she falls a lot, is incredibly stiff in her movements, cannot walk far and regularly mentions pain in her legs. I just want someone to help her!

Do you mean genetic testing for other diseases as there is no specific test for FVS? Several weeks for simpler tests. A couple of months if a large panel of rare disease genes ordered.

I was told the only way it could be diagnosed was through genetic testing, by Infact. What am I meant to be asking for instead? I feel so confused and lost! X

Hi OP,

The genetic testing is to rule out other possible causes for your daughter's condition. FVS is partly a diagnosis of exclusion.

It is probably very region and rest dependent but locally to me it is 18-24 months or comprehensive gene panels sadly.

As has been mentioned, the tests will be to exclude other causes. Have you seen any paediatricians? What did they say about the likelihood of FVS?

Will I be able to get any help while we are waiting for the genetic testing to rule out other things?

I mainly want help with her hypotonia and her behavioural issues (which are becoming more problematic as she gets older-particularly now she has turned 7-apparently there is a hormone surge at this age?). No-one is taking me seriously, from the GP to the SENCO to the paediatrician. She still can’t walk very well or very far, and at 7.5 she is getting very heavy and long for me to carry any distance, so we aren’t able to go out for the day any more, or go shopping to get school shoes etc. It is also causing problems with her activities-she cannot do certain moves in trampolining for example, and is getting more upset that other children younger than her can do them and she can’t. We have had no help whatsoever.

She also has a congenital ptosis that needs an eyelid lift at some point, but as it is attached to her jaw muscle she may never be able to close her eyelid again, so it is weighing up the pros and cons of that too, and there is no advice out there about it-if Incould talk to other parents that have been through it it would be helpful.

Where are you OP?

Hi Op I don't know anything about the condition so just here with experience of genetic testing.

We are in the north but her samples were sent to GOSH. She had the samples taken in February and we got the results in November. We were told that they are incredibly busy with genetic testing. Our consultant would not provide any additional treatment (change in meds for example), until the results were in.

The GP won't do the test they will refer to genetics. If you google 'regional genetic centre for (your town)' you can find out where she'll be referred to and the wait.

But is it actually genetics?AFAIK there is no simple genetic test so more likely she'll need to see paediatrics with an interest in that area.

Ah I see ithers have said genetics tests to rule out other things. Yes this'll be a paeds referral, not genetics.

In principle, statements of educational needs do not require a specific diagnosis, they are based on an assessment of the child's needs (reports might come through educational psychology based at school, occupational therapy, physiotherapy). Though it is co-ordinated and signed off through a paediatrician who is medical. If she is on waiting list for ASD assessment likely the professionals will overlap.

10 months for gene panel for my DD.

What were the circumstances that led to you being on SV in pregnancy? If there is any possibility you were poorly advised then get a copy of your own medical notes and take some legal advice on whether to put in a claim. The risks of SV in pregnancy have been known since the 1970s, the NICE guidelines have advised against use in women of childbearing age since 2004. It’s now not advised in boys either if they may one day father children. You may need the money to get your DD the support she needs privately.
Timeline of what was known Here

Epilepsy action campaign for redress for affected families

Are you under a paediatrician at the moment? You should be receiving help for the issues you’re facing right now. Re. her mobility issues, can you ask about being referred to (I think) wheelchair services? Or self funding a disability pushchair if she’s not too tall already?

For hypotonia and other symptoms she needs physio and OT and things like riding swimming etc. Whatever the genetics you should be treating symptoms already. Do not wait. Get her baseline eg ABC movement battery assessment.

Even if genetics testing tells you a syndrome it wont cure or change her hypotonic. It might give a why but it will not change strategies.

Assume some genetics components but assess know where she is and put strategy and therapy in place

Do not wait for the testing to start

Hi OP. Try the charity Brainwave. They do bespoke physio, OT and SALT plans. Worked absolute miracles with my child. It’s 1:1 therapy.

Get a referral to community physio or spend on a physio assessment if wait list is long
You need the physio and OT assessment and a recomended program and school adjustments more urgently than genetics testing

https://www.otforkids.co.uk/services/assessments/movement-abc.php this gives a clear idea where your child is at physically

Also take videos of child now walking moving etc and again on three months so you can monitor and show paediatrician if any decline or if is stable (or improve with input) as that might feed into which genetics testing as well

You need to get referred to paeds, from there they can order tests or whatever other referrals are needed. Unlike your gp they will have come across this before I suspect. Women of child bearing age are being taken off this drug even if they are not contemplating pregnancy, it's directly affected dsd as they took her off despite the fact she has no capacity therefore will not have children (she cannot consent)

Genetics departments in the NE and NW are doing studies into FVS. If you are in or near Newcastle or Manchester you might be able to get into a more specialist clinic. How is her learning OP?

@Scareofgettingthiswrong my son has congenital ptosis too in one eye. I presume your daughter is having regular check ups for her vision? I've explored this extensively, if it's a mild to moderate case where the eyesight is developing fine (even if patches are required) and it's a surgery for aesthetics, it's best to wait until they're old enough to have it corrected sitting up under local anaesthetic for a better result that won't need repeated correction.

Ds (6) is seen at the eye hospital every 3 months. He did have to patch for about a year from 4-5 but that seems to have fixed his vision issues, they're equal now and no glasses needed.

Thank you all so much for your replies-I didn’t get the notification to say that I had any replies, sorry!!

I was on Depakote for Bipolar disorder. I was taken off Depakote at 8 weeks pregnant.

We are an hour from Manchester, so that is really exciting to hear!

We have had no help at all with the Hypotonia-she didn’t walk until she was 2, and has very stiff movements (my friend’s daughter has Cerebral Palsy and they have exactly the same gait, and she regular falls etc too). She also tiptoe walks and really struggles to put her feet flat on the floor. She rides and does trampolining but hates swimming-the sensory issues around being wet cause huge meltdowns. I have been to the GP about it twice and both times was turned away for referral as “there was no inutero or birth trauma to point to CP”. This is the bit I am most angry about. She does have to have cerebral palsy to have hypotonia!

Her ptosis does cover her full eye when she is tired, but the sight isn’t declining any more, so we can decide when she is ready to have the corrective surgery. She was patched for two years but we have no patches any more, which is fab!!!

Her learning is good, but socially and emotionally she is very behind. Emotionally we are still at around age three, and she cannot wash or dress herself, brush her own hair, do a seatbelt etc. She also really, really struggles with sleep, and is incredibly anxious.

Thank you all so much for your help.

Ask school to refer her or self refer to community physio. And OT .
Or spend £200 on private paediatric physio assessment to get things started you need baseline assessments

Were you advised against getting pregnant when on Sodium Valporate? Warned of the risks? Advised on suitable contraception? If not I would speak to a lawyer. The risks have been known for years. I know parents who had to fight for a teenage girl to be able to remain on it over 10 years ago and she had no capacity to consent to sex anyway.

DD waited three months, as an adult for her genetic test results, but I have heard parents round here have to wait a year for children. It’s mainly about queuing, in face of demand exceeding the resources to do testing - not how long it takes to actually produce the results.

As PP have said, a GP can’t refer for genetic testing. As there is a genetic disorder running in our family, producing a pathogenic effect on DD, the hospital did a generic referral letter for us, to give to any member of the extended family, who wants testing, to give to their GP.

As PP have also said, getting the diagnosis of a genetic disorder did not make either of us, DD’s parents feel any better - knowing for years, she could have had the right diet to reduce its effects on her. ITA, there’s bound to be a class action you can join, to sue the drug manufacturers, but I suspect that would be a long and stressful road. Sufferers of the infected blood scandal have had to wait a long time for compensation.

In the meantime, it’s best to seek help for the symptoms asap.

DD has hypotonia - she got OT and physio from age four for years, and OT right through her school life (in specialist schools).