Can you have your DC tested "too much"? When is enough, enough?

[mm22bys]

Hi, we still don't have a definite dx for DS2's problems, but the neurologists have suggested some quite invasive procedures to rule in / out some rare conditions.

He's only 13 months old, but he's already had an MRI (under GA), an EEG, ECG, ERG and VOP, and EMG. He's had a whole string of blood and urine tests. He has also had lots of "assessments" by different professionals, including the physio, the CDT, BIBIC, and now Bobath. Back in November he was sedated for bilateral insertion of grommets.

We took him to Hammersmith Hospital back in December, and they suggested that he has another MRI, a spinal tap, and a muscle biopsy. These are obviously quite invasive, and he will need to be sedated again for them (all done at once hopefully). He also has retractile testes that will need to be operated on, hopefully sometime in February / March.

He has made some good progress this past month, and part of me just wants to get on with the therapies. I am not sure how much results of these tests will change them, and they are not "kind" tests.

Did you get to a point when you thought your DC had been through enough, and you just let things be for a while?

Hi mm22bys. Yes - we got to that stage a about a year ago (when dd was 2). She had had 3 MRIs, various EEGs, numerous blood tests and still nothing that confirmed a dx. I told her neurologist that I didn't want to put her (or us) through further tests as it was not fair on her, and hugely stressful for us. I did say that should they ever have an inkling of what might be the cause of her symptoms then we'd consider it, however in the interim I didn't want any more invasive testing.

I don't think there is an easy answer, as dh and I if honest would love a dx, if only to be able to get a better gauge on the recurrence risk for further children.
She has since had bloods taken again for a genetic array test, for which we are still awaiting the results.

Wishing you luck with whatever you decide.

That's really hard isn't it

I would think that if the tests were to diagnose or eliminate a condition then I might be more inclined to do them. I appreciated a diagnosis for DD2, and it helped to know what we were dealing with and the prognosis, but the invasive tests were difficult.

But if the diagnosis (if you were to get one) would make no difference then I would leave it.

It's awful seeing them go through the tests isn't it? You just want to do it for them.

I think we need to talk to the neurologist to find out what they are looking for and see what difference it would make.

He actually told us back in November that DS2 had already been tested alot more than most children, and was concerned then about being "kind" to DS2.

We have been quite pushy, and the neuro has been fab with seeing DS2, and referring him on where necessary, but I think DH and I are reaching a point...

We are at Bobath for the next two weeks so we may see some progress, and get some more opinions, and then we are off for three weeks after that - maybe we should just wait till our scheduled appt with the neuro in early March before we consider more tests - give the new therapy time to work, have a nice break, then get back in to things (one dr told us some things they find from the spinal tap / muscle biopsy can actually be treated and that it would be a shame to skip them).

It's a shame it's only Jan 8 - enough already!

well, we had a definite diagnosis of cerebral palsy so that helped. IF the testing could find something that could be cured it would be worthwhile. But if the problem is incurable (genetic or metabolic or mitrochondrial) then I would stop at some point, unless you're wondering about having other kids.
I've refused MRI for dd. She has brain damage. It can't be cured. Why keep peering inside her head. But we do do EEG's cos of her epilepsy.

Hi mm22bys,

With such invasive investigations being suggested I think I would want some questions asked first.

The first being can they do it in one go, if not how many, what are the associated risks.

The second would be whether the rare conditions they are testing for are degenerative, likely to severely shorten my childs life, have a strong genetic factor which may effect future children or would have a severe impact if not diagnosed early.

I would then base my consent on those answers. I don't think I would be that bothered at this stage as to what they are testing for. First if they are rare I'm unlikely to have come across them, second I'm likely to look them up and worry more.

We have an appt tomorrow with the neuro for him to see how DS2 is going and to discuss the tests (only 15 mins though, not sure what can be discussed / seen in that time).

It seems like it has been non-stop appts, tests, scans, waits etc for DS2 since September (saying nothing of what seem to have been almost constant worries since he was born) - since then he has had appts etc at least 3 days out of 5 every week, except for the week of Christmas. Even before we go away next Friday he is at Bobath every day and tomorrow he has Bobath, the appt with the neuro, and an appt with the NHS physio.

I am tired, you know, but I guess I have to do what's best for DS2 even though I really just want to say enough already!

Guess I should stop the pity-party now!

Thx for your responses.

mm22bys,

((((HUGS))))

I don't think this is a pity party, and what I was suggesting is that you give each test consideration according to your own criteria.

dd has autism, it was first mentioned when she was 10 and we didn't get a diagnosis until she was 12.

However we got to take our daughter home after she was born and get on with a 'normal' family life. For us there was a two year period with a few appointments and nothing invasive.

You on the other hand have not had this, as you have said your lives have been dictated by one appointment/test after another and if I was in your place I would be climbing the wall wondering when we would be able to just get on with a normal family life.

It is stressful, and can put a huge strain on family dynamics, not to mention expenses. If it is realy getting to you, and it sounds as if it is then go speak to your gp. Even if you take a 6 month break from all the tests and non essential appointments it would give you a break and a chance for everyone to recharge their batteries.

I get into trouble for saying this in some places, but it hasn't stopped me yet, however sometimes the best thing for the children is to take care of the needs of the parents first. If you are stressing out then the children will pick this up. If you are tired and worn down you will not be making the most of your time with your children and they will not be getting the real benefit of your time. There are times when putting your own needs first is what is best for your child.

Thanks Dgeorgea, your words mean alot.

We saw the consultants, and they agree that there is no rush for these new tests. We can contact them when we feel ready. They feel that DS2 is not showing signs of what they want to test for anyway.

Am looking forward to our three weeks "off", and when we come back will reassess what we are doing.

Thx again,

Enjoy your three weeks off

Good to hear the meeting went well.

Who are you seeing at the Hammersmith? Dr Manzur or Muntoni? They are the very best in their field , and if they suggest a muscle biopsy they must have good reasons for doing so.

We ran the gamut of testing with my son when he was little..MRI, blood tests, chromosome analysis, muscle biopsy ..bla bla.. and nothing was every conclusive..always mildly 'off'. Charlie progressed at his own rate notwithstanding and we decided to let him be. Now at 10 all we know is he is hypotonic, has learning difficulties and mild autism, speech problems and we are none the wiser as to why..but we have learned to live with it.

I think deciding when to test or not is intensely personal..and no person should or can judge another's decision.

However, from personal experience..I would be tempted to trust the judgement of the hammersmith neuromuscular guys if they feel it would be a good idea!

HUGS
Julie
Mum to Charlie 10, MLD, ASD lovable!

Thanks Charliesmom. We saw Prof Muntoni. I got the impression they recommended doing the testing to rule it out (whatever "it" is) - and because apparently one thing they test for can be treated (so better to get the testing done and find out he doesn't have it, than ignore this possibility).

I would be keen to have a repeat MRI done, but he would have to be asleep for that, so if one test is being done, then they may as well all be done, and I am still not sure I want the others done anyway (not at this stage anyway).

The drs at Royal London don't think he is showing signs of what they (Hammersmith) want to test for, but they did ask for their opinion, so I think they think they shouldn't ignore what they are suggesting (iykwim).

We'll get it done, but maybe not for a few months (give us time to catch our breaths!).

I am really glad to hear that your little guy is coming on, and that you seem to have come to some sort of "peace" over it all. I am so not there yet....