Waiting for child's test results - anyone else?

[nobodysdaughternow]

Is anyone else waiting for their child's test results?

We have been chasing answers for the past 18 months and if anything, the waiting and worrying just gets worse.

My ds is 13 and is weaker and less coordinated than he was two years ago.

We are currently waiting for the results of his (and me and dh) whole genome sequencing (WGS), done in December last year.

The geneticist who persuaded our GP to refer my son for testing, is helping us again by trying to speed up the results.

Hoping to get a referral on Friday to a specialist muscular dystrophy assessment centre, via GP's.

I just want to know what we can rule out and what we have to face head on.

Waiting is awful. Watching my son walk pains me. He has a learning disability so thankfully isn't very aware of his health issues.

I am so scared the WGS will show a ticking time bomb which may affect my other children or me and my dh.

I don't have parents for support and I recently moved 200 miles away from my friends.

Would appreciate a hand hold.

Handhold from me @nobodysdaughternow. I hope you get answers soon and it is positive news. Love and light xx

Thank you @Songbird74

I feel so alone. My dh is lovely but absolutely hopeless at talking. He keeps saying "I'm worried too but I think it won't be anything serious".

He says he just wants to make me feel better. Nobody in the history of the world has 'felt better' because some bright spark told them 'not to worry'.

Hand hold from me. Currently waiting for my 10 year old's MRI scan results.

I think you have other children too with difficulties @elliejjtiny ? I'm in the same boat and it just feels relentless at times doesn't it?

Do you have a date when you expect the results back? I feel like I'm always waiting...

Good news in that I managed to properly chat with dh. We are both worried and scared, but he was trying to pretend he can control his feelings. He has now accepted he can't which means we can support each other better.

Hand holding
8 months seems like a looking time, even for genome sequencing? I think it would help ypu if you knew when to expect yhe result, so you aren't on tenterhooks the whole time.

Since Covid, whole genome sequencing is taking 12 months

I got in touch with a geneticist who had been helpful in the past, and she agreed to push for a quicker turnaround, based on my son's deterioration.

I just want to know now - I have been worried for two years and my son has been just ignored by our GP's especially.

His recent bloods show he is Vit D deficient and anaemic. They are treating the vit d - once levels are up they can treat the anaemia.

Every bloody step requires multiple phone calls and waiting for appointments. The worst is when he is rejected by a service. The GP has just put in a third referral to OT. He has an unsteady gate and regularly trips and falls. Nobody has even tested his muscle strength or reflexes.

If he was a child without a severe learning disability he would have been seen two years ago. I am trying very, very hard to remain calm and just keep pushing on with this torturous process.

Yes I do. I find the constant chasing up of appointments, dla forms etc is the hardest part of having children with difficulties. We get the results when we see the orthopaedic consultant which we've been told should be in the autumn sometime. Although we have already waited 6 months on what was supposed to be a 4 month waiting list.

That's great that you had a proper chat with your dh. Mine sometimes pretends that he isn't scared to try and help me worry less but it just makes me feel like I'm being silly for worrying.

It has the same effect on me @elliejjtiny

Dh says he isn't worried and I feel like I'm making a big deal out of something small.

That said, I'm now really worried because he is worried...he can't win 

I am still waiting. It feels endless.

I’m not yet waiting but will be tomorrow we are having the same bloods done. 1st mri scan, 5th heart scan, 18th ultrasound of hips and abdomen. Waiting for rest of appointments to be made. My sons 10 weeks old.

Has he been checked for coeliac disease?

Oh God this sounds horrendous for you. Are you waiting for a diagnosis or to establish a programme of treatment?

Sending you a hand hold - I keep thinking of Churchill's "when you are going through hell, keep going".

I had managed to get a referral to a specialist muscular dystrophy centre today so will begin the wait for an appointment, likely to be in November.

After we get through this, I am planning on getting right back to my fully impulsive self. Patience is not my strong suit

He had bloods and they tested for that then. I don't know if it can by diagnosed via bloods?

His most worrying symptom is the unsteady gait which is getting worse.

He has not been physically checked over in years. He has a learning disability and medical professionals just seem to not give aa shit.

Are you looking at teenage ataxias, vit E deficiency etc?

Yes waiting for a diagnosis they think they will find a condition but don’t know what. He’s a really floppy baby.

Hard with a newborn
Is he strong when crying or always floppy? Have they ruled out SMA (there are now gene trwatments) ?

I feel a bit broken. Finally got the referral and spent today getting the GPs to email it so I don't have to wait for snail mail.

Ds can't fully extend both arms. Along with the one-sided limp which is getting worse, I am beginning loose any hope that it will turn out to be something that is easily solved.

The muscular dystrophy referral manager said she couldn't understand why he hadn't been referred before now.

It's so shit. I can barely look at ds because I am so sorry for his suffering.

He is strong when crying and can hold his head up. He’s movements have improved over past week and is now making eye contact etc.

One of the bloods done is for sma alongside a whole range. The sma test has been added as urgent and results should be back by 22nd of September at the latest. The rest of the genetic tests will take three months to come back from the Bristol lab.

mri scan is on Friday and echo scan the week after.

my first son I had genetic tests alongside others in pregnancy which all came back normal so I would be surprised if it is something genetic.

I’m so sorry please don’t blame yourself your chasing things up and doing all you can to help your son.

I hope the referral and results do come through soon for you. I’ve found once referral is done calling the team to ask where they are in the system often gets you an appointment.

I hope you got some answers and your DS is comfortable xx

How are you @nobodysdaughternow? Have you been able to get any answers? How is your ds?

Hoping you are all ok.

Thinking of you OP and your lovely boy. I hope you have answers and everything is Ok xx

We have finally received the whole genome sequencing result for my 3 year old son after a year long wait. He has been diagnosed with Lama2 Muscular Dystrophy x

I’m in the same boat. Did you get answers, OP?