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Given news on genetic tests in the most awful way

(26 Posts)
LadyDowagerHatt Mon 27-Jul-15 19:47:40

To give a bit of background, DD is 25 months. We had our first paed appointment 2 months ago when we were told she has a GDD delay of 8 months and referred for hip x-ray, hearing and eye test, physio, SALT etc. All was looking quite positive as she seemed to have hypermobility (but physio said once she built up her muscle strength to compensate for her joint flexibility there wouldn't be anything she couldn't do) and a speech delay.

Anyway on Friday we had our second appointment with the same paed in which he told us that the genetic blood tests were 'not normal' and she has a duplication on 7p22.1. He read the letter from genetics verbatim, at the end both DH and I said in unison 'what does that mean?'. To which he replied that he didn't know as he wasn't a geneticist! We asked if the duplication was life limiting or life debilitating and if it effected my DS, all of which he replied that he didn't know. In the end I said I would just go and google it and he said 'yes I can't say that I wouldn't do the same in your position!'

The paed also said he needed to get us back in to take our bloods to see if the duplication was of clinical significance, at which point my husband demanded that we get them taken there and then as we wanted to know as soon as possible. He didn't explain what 'clinical significance' meant despite me asking - I subsequently found out from ringing Unique that if my husband or I have the same duplication then it possibly won't be the cause of her delays (unlikely but possible).

In addition my husband noted that the letter from the geneticist which the paed said had just arrived on his desk that morning was dated 5 weeks previously!!!

I understand that the paed does not know the detail that a geneticist would have but surely this can't be the normal practice?! Shouldn't the paed have more general information, or we get the news from the geneticist so he/she can answer our questions? Just wondering if anyone has any experience of getting this type of news and how it was delivered? For us it just seems to have made a terrible situation so much worse...

BirdingWidow Mon 27-Jul-15 21:56:23

I am sorry to hear about your appalling experience. I don't have any knowledge of genetics and can't imagine how you feel... However, I would give some feedback about the paediatrician through PALS. It doesn't have to be a complaint as such if you don't want the hospital to investigate (though you could - why 5 weeks delay? Why no preparation to give you some interpretation of the result?). In either case it would make the point that you should not have been told like that and make them look at their policies. Medical secretaries are not allowed to give out test results in my trust for this very reason - because they can't give any meaning- and the same should be true of any staff not qualified to give even basic information.

I am sorry you are going through so
much worry about your beloved child (that I do understand) and I hope you get some better news x

BatFoxHippo Mon 27-Jul-15 22:06:04

My friend has had these blood tests on her dc. They were given all this info (what it would mean if something showed up, how the parents would then get tested, it could be a coincidence and not the cause of the issues etc) before dc had the blood taken.

It doesn't sound right what you have been through. Agree with contacting PALS, the paed needs some help with how he deals with patients. Its great being brilliant at your job but if you can't explain what you are doing to the people involved its useless.

Hope things get clearer for you.

youarekiddingme Mon 27-Jul-15 22:11:10

Sorry to hear the news was delivered and not explained to you. It must have been a shock and left you with more questions than answers.

Tbh I wouldn't Google deletions and duplications of chromosomes unless you are very clued up on medical terms. It's likely to cause you more questions than give any answers. You can have duplications/deletions of different sizes and that can have a different outcome so you'd need the actual data to google correctly.
The only thing I know (have come it across it in RL) is that dulplications of 7p is linked to speech delay. So it does in some way explain it but personally I'd concentrate on getting the right SaLT support.

As for the results.mits likely that the pead did only get them that morning. They would have arrived at outpatients and out in your DD file. He would have got them when he opened her file.

Do you have the geneticist number to call and ask for clarification of the importance or likely affects of the chromosomal abnormality?

flowers and wine for you and DH. Look after yourselves and remember there's no right way to deal with this. Do what feels best for your family.

MedusaIsHavingaBadHairday Mon 27-Jul-15 22:19:35

Ugh... very poor treatment.

On the duplication however... it really is possible that it is not related to your daughter's difficulties.

We went through a ton of genetic testing, and ours too found a duplication (DS2 has ASD, learning disability, hypotonia and hypermobility) However when we were tested... one of us had it too, so was unlikely to be the cause of his disabilities. (Chomosome 8 but I can't remember the was years ago!)

The geneticist explained that a huge proportion of the population will have mutations/duplications/tiny deletions, but because they have no reason to be tested, they never know, and many are insignificant. So you may find you still have no answers (sorry) when you are tested.

Hopefully the geneticist will be able to clear things up for you. And yes I'd complain about the paed!

2boysnamedR Mon 27-Jul-15 22:20:55

I'm in a similar position. Two Dcs with developmental delays. Youngest had a test for fragile X but with a full array. Had no genetic counciling before. I have a biology degree so I knew to have two kids with delays was more than just bad luck. I presumed genetics. I was told over the phone. I wasn't prepaired for how I would feel. I cried a lot for over a hour.

I did see a genetasist a few months after. I was 35 weeks pregnant when I got my news. I walked out from the Genetatist into anti natal and got admitted there and then from the shock.

Science is way more advanced at finding these things than it is with telling you what it means. The technology to find is so much more advanced. Ours is on known gene so we know some things. It's linked to autisum and speech. We have these problems in the kids.

We was all tested eventually. My dh carrys the duplication. Dh is fine. Doctors don't know how or why. I'm begining to think its from his dad's side as there is autisum and speech problems there, but very subtle. Our boys problems however are not subtle.

I'm still waiting for the baby's results. Getting siblings tested wasn't easy.

It's answers all with more questions

2boysnamedR Mon 27-Jul-15 22:23:09

If you want I can find a link to the know genes.

Be careful as not all conditions will effect you. Ours is linked to long QT but fx my son was tested clear for this by a cardiologist

LadyDowagerHatt Mon 27-Jul-15 22:25:48

Thanks for the replies everyone.

Youarekiddingme is that really how it works with the files? I naively assumed that the paed would go through the file before he saw us, plan the appointment, think about how to deliver news such as this etc. I don't deal with the general public in my role and everything is a lot less important than this (I work in finance) but I would never go into a meeting that unprepared.

That does make sense though as to make things worse, just after he said the news of 'not normal' about the genetics but before he read the letter to us, there was a knock at the door and a nurse came in with some files, great timing! The paed told her to tell the next patient's parents that he would be another 40 minutes as he now needed a full appointment with us. I was pretty gobsmacked that this was all so blasé...

youarekiddingme Mon 27-Jul-15 22:35:34

When we went to neurologist for my DS 24 hr ambulatory EEG results he sat playing minecraft with my DS on DS iPad whilst the slow computer loaded up the results grin
IME the consultants literally see the file just before the patient walks in.

(there are exceptions at times obviously!)

youarekiddingme Mon 27-Jul-15 22:38:38

Some consultants don't have the best people skills. (Same as some non consultant general joe Blogg public person!).

To him it was a patient, results, tests etc. a systematic procedures of investigations to go through. I personally don't believe that consultants don't care - but that they do have to cut off their emotions to some extent as a personal survival technique iyswim?
Probably needed to be less blunt and factual in your case though tbh grin

LadyDowagerHatt Mon 27-Jul-15 22:46:19

2boysnamedR sorry to hear of your experiences and that you are still awaiting results, what a worry for you.

I have trawled the internet until my fingers bleed but if you do have anything that would be great. I know it's a bad idea, too much information not enough knowledge but at the moment I just want to know as much as I can. As far as I can tell it causes some facial abnormalities, speech delay and intellectual disability... whatever that means.

LadyDowagerHatt Mon 27-Jul-15 22:55:41

youarekiddingme I know what you mean, my DD is just another patient to him. I don't mind him being factual though, actually more facts would have been good! If he could have just given us a bit of general info in line with what I wrote above that would have helped to know what we are dealing with, which is actually 'better' than it could have been. And also to know that my bright, articulate DS clearly isn't effected (at the time I was thinking the worst about genetic conditions related to epilepsy, heart conditions, cancer tumours etc that could effect both of them).

2boysnamedR Mon 27-Jul-15 23:05:39

You can search on the known gene here

youarekiddingme Mon 27-Jul-15 23:10:11

Intellectual disability can be anything. It could just be processing speed of information. I note you say your dd has gdd of 8 months - that could be the effect of intellectual disability. I'd push for educational psychologist tests to find out more.
The positive news is that delays can be helped. A delay may not always be there.

(((hugs))) it's not easy.

2boysnamedR Mon 27-Jul-15 23:11:25

Will try to find another link but the one above was given by my sons pead. Also unique are good.

In the old days they found duplications by overlaying your chromosomes with a normal chromosome. If it was too long or to short that's how they knew.

Now days they chop up the chromosomes and load them with dye. If they show too much dye or too little on a computer they can see relatively tiny changes.

Our duplication is 25k ( 25 thousand too many bits of code) but in the old methods they picked up Mb ( mega bases which are measured in millions of duplicated or missing parts).

2boysnamedR Mon 27-Jul-15 23:14:02

Plus my boys with the same duplication are not the same. My older boy is not the child he was at four. Nothing is set in stone and there's no way to know how things can change.

2boysnamedR Mon 27-Jul-15 23:26:32

I think you might need to know the gene name for this one. There was another link where you could put in the full location but I'd have to hunt for that.

They are very medical term heavy these research papers so even my sons pead struggled to read them.

The first link is better as it gives a overview of known functions of the gene so possible areas effected. By if your gene isn't in a syndrome ( ie enought other people have the same genetic problem) then that's a good place to stop looking for detail. It's been helpful to know that our gene is linked to a few conditions but even with digging deeper I didn't really find any helpful facts.

I know my kids have a few midline defects but it gets blurry after a while as too what is significant. It interests me as I love biology but it's not giving useful information digging away. If that makes sence?

LadyDowagerHatt Tue 28-Jul-15 06:17:00

Thanks for the links 2boysnamedR. I don't have all the details yet so i will refer back when I do. When I just typed in the duplication it was coming up with things like delayed spastic paraplegia (thankfully a deletion rather than a duplication) so it was all getting a bit scary and I thought I had better stop there...

When you say your son is very different now than at 4 years old, can I ask what you mean? Is that a positive thing or are you seeing the genetics having more of an impact as he gets older.

I noticed that the duplication your boys have is tiny at 25k. My DDs is 490k and I thought that was small (the case studies I was looking at were 1.7mb and 1mb so I was comparing to those. I understand it also depends where it is located as to the impact and I don't have that information yet.

youarekiddingme an educational psychologist must be the one service we haven't had yet! Is that something that the paed would refer us to? Thanks!

JazzerciseThis Tue 28-Jul-15 09:51:16

Message withdrawn at poster's request.

2boysnamedR Tue 28-Jul-15 10:54:21

My ds2 was mostly silent at 2-4. He would barely interact and we hardly talked. He was always right next to me and I'd chat away but he was silent. I thought he'd never talk to me. He's seven now and sometimes he chats away so much. He's got a lanugauge disorder but lay people can't tell ( I'm sure they will as he gets older) but he's so much improved since then, more than I would dare to dream.

Anything under a Mb is micro I think? ( I don't know for sure) location is more relevant than size.

Our gene is linked to long qt but I never think of it as life limiting, no one in the family has died sudenly. I'm sure it's not for us. The gene is used the developing brain of unborn babies. Hence developmental.

However the mil, fil and bil all poo-poo'd the news. Knowing I had a science degree, knowing I have worked in labs and medical research. They doubt there is anything wrong with The kids even thou the toddler is off to a asd nursery. So who knows if it's de novo in dh or widespread in his family. We did our ethical duty, got ignored and have no energy to fight that battle. We discussed that with the Genetatist and she agreed that we should leave it.

Tbh mil and fil wouldn't notice autisum in anyone. They are the " no such thing" type

JazzerciseThis Tue 28-Jul-15 13:27:46

Message withdrawn at poster's request.

2boysnamedR Tue 28-Jul-15 14:53:28

Good question. I have to say that if it was fragile X then yes I'd want to know so hindsight I had to do the test.

Is our result useful? No. Because it comes with no answers. It may well help others in the future and we entered the ddd study.

It raises unpleasant questions like would I save for PDg ivf if my kids want kids? Would that mean they should screen it out? If I have another should I? If that answer is yes what does they say about me?

Ds2 pead said this is now his primary dx. Yet Genetatist said she's not sure it's the reason for the delays! The doctors can't even agree amount themselves.

I am happy to be part of medical research as it might mean something in the future for other parents searching for answers.

So no, id rather not know. But it's something I can never go back with.

That reminds me I need to chase dd results today.

LadyDowagerHatt Wed 05-Aug-15 23:48:29

So after all that worry it turns out that DH has the same duplication so it is not of clinical significance. Which is good news of course, it's just been a roller coaster of a week! Thanks for all your replies and support.

2boysnamedR Thu 06-Aug-15 00:12:08

Same here! They are debating its significance as DH is a extrovert. He's about as far from someone with ASD as you could possible get.

It's a mystery....

youarekiddingme Thu 06-Aug-15 10:05:45

Awww ive been thinking of you. Glad you got some results quickly.

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