Support thread for Chromosomal/Genetic testing and diagnoses

[glimmer]

Hey all,

My daughter, 15 months, is currently tested for genetic abnormalities, because she is not gaining weight (failure to thrive). It will be a few months before we get the initial results back but my understanding is that this might just be the first set of test and the we might be in for assessment over the next several years. Is anybody else interested in a support thread for those waiting for results, those who have gotten them back and are adjusting to the findings and those who are willing to share their stories and knowledge?!

Meant to add, as for explaining it to others, with the medical stuff I am just honest and word it for children-ie she wears a special bracelet so doctors know why if she is ill. With the delays its more tricky and we've had why doesn't she talk properly etc and I am still not sure what to say with kids, with adults I tend to say she has some delays. I mean, I know that it isn't just a case of waiting for her to "catch up" but it seems easier somehow to be vague like that.

used2bthin - welcome! I think in many ways this thread has outgrown it's original name... So do I understand correctly that the "delays" are not linked to genetic condition she was diagnosed for after birth? That must be hard - to think you are fine in on area and then you are not... And to have a diagnosis and to find out there is more.

Growly - thanks for your kind words. Yes, you really describe it. I have to keep remembering myself that for her the world is still fine and she is happy. (She doesn't know yet that she is unique). It is my expectations I have to adjust and be flexible about.

Yes, to say there are some delays might be a good strategy, too.
It's just that there are people you are happy to talk with and some, where you just do not want to roll out your heart for. And it's good to have some prepared lines in these cases.

Glimmer, failure to thrive can be as simple as a result of intolerance to certain food, my ds had quite severe and supposedly untreatable neuro problems that after 10+ years of accepting the inevitable, were helped by diet overhaul (gluten).

I can only say what I had refused to believe myself, drs don't have all the answers and you need to feel free to explore all possible avenues.

Thanks nightcat. We actually have a dx and it's not diet in our case.
I am glad that a change in diet worked for your son!

I'd still keep your mind open and there are various therapies that could make a difference.

My ds also has a diagnosis of a perm genetic condition at 6 months old, but despite all that the diet has made a big difference. I also found that nutritionists can read any vague symptoms far better and give you more ideas whilst drs were happy to write him off. And my ds didn't have ANY food reactions that would have even warranted a referral. We are all genetically unique and some faults are more obvious than others, but you can't go wrong with first-class nutrition.
Good luck!

(DS1 2.3 with undiagnosed GDD for new posters)

Hi Everyone - two boys are asleep at the same time during the day (a rare occurrence) so instead of catching up with some housework I'm here instead :)

Its been a busy few weeks - we had DS1's six monthly review and as usual the Paed had not got any of DS's letters from the other Doctors involved in his care (dating back to Sept) so it was really us getting her up to speed. I was extremely shocked that she had not heard of the Microarray as she is a Developmental Paed and the geneticist told us that soon the Microarray will take over the Karotype and become a standard test in cases of Developmental Delay once the common causes have been ruled out.

Some good news - DS is beginning to finger feed!!! I shed a little tear as I watched him lift some toast, put it in his mouth, chew and swallow and then go back for more. I never thought this day would come! The physio has also said he's now standing well enough to try the walking frames again so I'm really looking forward to that.

Glimmer - sorry you are finding things difficult at the moment. I'm having a few wobbles too. I really thought I'd turned a corner but I took DS to a SN Mums&Tots at the local SN school - I'd been looking forward to it hoping to meet other mums but as I drove into the car park the tears started from nowhere so had to sit for 20 minutes until I'd pulled myself together. I was also at a Makaton course at the weekend and they showed a video of Makaton being used in an SN nursery and really had to hold the tears at bay. I suppose its just a case of taking each day as it comes.

Growlybear - how are things with DD, any improvements?

Used2bethin - hi, i think I've read some of your other threads before. it would be well worth asking your Paed for more tests esp as the advances in genetics seem so rapid and I think its so important for us to know the causes for our DC's delays even if it doesn't affect their immediate care.

Anyway - DS2 is now awake, my five minutes peace is over. Hope everyone is else is doing OK too and had lovely Mother's Days.

my son whos 4.4 has undiagnosed gdd too,gonna see if he can have the gch test nxt time we see the geneticist, hes non verbal too

Hi thanks for the welcome! Yes glimmer her learniong problems are entirely separate, it has taken ages to sink in as it seemed too unfair really, when we found out about her condition initially it seemed a comfort that she would still meet milestones etc and grow up to manage the condition herself, however difficult. So it was like taking away the thing we had in a way.

Thats very true that some people you can talk to and some you need to protect yourself from a bit. For me it also depends on my mood. DD is a runner so I am getting a SN buggy soon and it feels like a big deal to me as its like admitting this is serious. Although realistically having an ed psych, as well as a clinical psych for her condition, an inclusion teacher and s and l impairment service working with her as well as probably full time TA to support her at school should have made it sink in for me really! Sometimes when professionals tyake it seriously it is almost a shock to me! Anyway my point abpout the buggy is I have been worrying that someone will comment at her being in a buggy at four and a half-and very big for her age. So I am trying to think of quick explanations too if it happens. Although again its mood dependant on some days I would probably just swear!

1980s that is brilliant about the finger feeding well done! Yes we have an appointment today with a panel of people its about her genetic condition but as genetics team will also be there I am going to ask to look into it all. The ed psych said we may never know a cause and the best diagnosis/label is specific language impairment but of course I have been researching it as am desperate for a cause, I want to know why and have found things like jaundice and slight brain damage at birth or through low blood sugar all of which sound quite possible for her,as does the glue ear explanation but I'd find it easier to think it was something related to her other condition somehow, it would seem fairer!

Sorry that got long but also wanted to empathise with the crying a lot, I am dloing that too and remember it from diagnosis the first time that I would just be taklen with it suddenly-it does go away then its just the odd moment. Going to a SN group is emotional, I enjoy the one we go to but often one of us there will eb a bit upset and I think its normal to feel sad at needing to go at the same time as finding it helpful to go iyswim.

Hi sport yay to little sport for finger feeding and standing,bet you felt proud.What a star.Yeh we are kind of plodding along.DD has managed to keep out of a&e this weekend although we did have a wobbly moment on saturday.She is still having vacant episodes and blue episodes but nothing major thank goodness.Life is a bit hectic though sorting out hip x rays and scoliosis x rays and appointments but we are getting there.

Yay 1980 for the finger feeding! Someone in RL told me that whatever milestones DD will achieve will be extra-special. And that's completely true.
I am always jumping when DD uses a new sign, or signs to get something (rather than repeating a sign) or a new word.

used2bthin - I know what you mean with things sometimes sinking in slowly...
I can so much emphasize with you thinking you have to deal with A and then B becomes a problem. I think our instincts are more often correct than not, so if you think the two conditions are linked, I would give this a lot of weight!

I think part of my issues are isolation. We are currently keeping DDs condition secret in nursery and around our friends (we feel that right now being labeled would be worse for her than just being a "bit back") I am sure we will change this strategy at some point, but want her to have a "normal" experience as long as possible. Objectively she is doing extremely well and the doctors keep being amazed how well she does given the severity of her condition. (Which is sort of a looming fate...)

I joined the local SN parent's group, but most of them have children with ASD/AS and very different issues. Finally I contacted the local Down Syndrome Association, because in terms of mental development I think DD's condition is not so unlike Down Syndrome, and there is also a Mosaics form. I thought I could get some support there. But they are not getting back to me, maybe because DD has not Down syndrome and they do not want to reach out? ( I would understand that.)

I have contacted Unique and they matched us with a family, but this family isn't replying to my email and letters. Which is obviously their right, but why did they join unique in the first place? (I do realize that maybe they have just too much going on..) I sort of feel I am trying but not reaching anybody if this makes sense.

Oh glimmer so sorry you are feeling like this.I know i sometimes feel like this.I get upset because in reality nobody really understands unless they have been where you are.The trouble with the groups for this that and the other is that they tend to look after there own which is a shame but kind of understandable.Can i ask what your dd dx is.Will understand if you would rather not say.

I can understand the isolation bit glimmer, don't want to go into it here but some aspects of dd's condition are quite sensitive so I haven't told people and it can be hard when people don't know how much pressure you are under and so expect you to keep up normality. I really hope the family gets back to you, talking to other parents can be so helpful even if there experience is different.

We have been at hospital for an appointment today with the whole team, dd has high BP again and they were worried. So am I obviously! ECG monday and her yearly checks which include bloods. Then an eeg for the seizures as I heard them called today. They are possible seizures really I think but perhaps they are thinking probable! No point wondering of course, will find all out soon hopefully.

We also have a paed assessment wed and I know it won't be anything new but I feel sick about it, just recounting the issues!

Growlybear sorry you are having a hectic time too, out appointments alweays seem to come all at once too its hard to have a normal life.

Sorry for the whining....
Growly - I don't want to say the details on here, but it's a partial duplication of one chromosome, which is then attached to another. I guess you would call it an unbalanced translocation. It's mosaic and de novo (not inherited) and there is not a single person in the literature with her exact chromosomal make-up, but a few in the same "categories".

Good luck with the appointments!

Hi glimmer no wonder you are feeling a bit isolated don.t know wether it would help but there is the Rare chromosome disorder support group which may be worth a try.

Hi all,

Glimmer, hope you are feeling a bit better. I went to our SN group yesterday which helped but feeling anxious leaving DD now I know she has high blood pressure although its silly as she has had it a year at least on and off and I can't take time off now really in case I need more after the ECG. This is my first job since she was born so still not sure if it will work out, it only has so far as my parents collect her for me from playgroup.

Anyway paed assessment today (or actually its a follow up appointment from assessment last year-any idea what this means in terms of what happens?)

I was dreading it but really its nothing new in terms of her learning difficulties and she has made progress so it shouldn't be TOO distressing. I am going to ask again about why and if we will have more tests although now we are being referred to a cardiologist and neurologist on top of all the other stuff we may not need that.

It feels a bit like I want to stop everything for a bit and just be doing nice stuff with her when not at appointments but I had that for four years so need to get on with it I guess and she needs to be at playgroup and doing the normal stuff anyway.

Just a quickie -

Glimmer - would you get any support from a charity that deals with learning difficulties, the equivalent here would be Mencap?

Ilovesprouts - I meant to say hello before, we think we'll have to pay for the microarray as it's not available here :( Would love to hear more about your DS, how's he doing?

Usedtobethin - how did the apt go?

Growly - you really are having a time of it. Hopefully you'll have some calm times ahead!

Hi, thank you. Not as stress free as I thought. DD has a small head and last year it was on the 0.4th percentile compared to her heaight which is always around the 75th! It doesnt look small just measures it. So they measured our heads today and we have normal sized heads so the paed said this could mean her brain hasn't developed or something like that so thinks after the eeg she may be referred for an mri. She then said but actually that may not be helpful right now so we'll see how the eeg goes. She also said as we already have a geneticist she will see if there is anything else we need to check for.

I get the idea there is something she was thinking of whcih worries me a lot as maybe they all suspect something really awful.

Och used2bethin - I hate when they leave you hanging without proper answers/information. DS is also .4 on head circumference, height/weight above 50th and his MRI was normal. Our geneticist wouldn't tell us what he was thinking but in a round about way we managed to find out they were testing for Angelman and although it turned out not to be DH and I really needed that time to prepare for a potential dx. I'd much rather know all their thoughts - we know that doesn't necessarily mean that's what it is but I think preparation and information is key!

I am exactly the same and want to know each thing however frightnening. When DD was being tested for her condition when she was a newborn we said don't tell us unless its sure, we don't want to worry over each suspician but then when she started to show symptoms for her condition I assumed she would die as hadn't researched it so didnt know there was treatement!

So now I would much rather be prepared. I just looked up Angelmans and am sure thats what she was thinking! I think it was probably tested for when she was born as its a chromosome thing but could be wrong. She is a very smiley girl and quite a few of the symptoms are like her so can see why that would occur to them. Although she has problems with understanding language as well as speaking it and probably has more words than the prognosis said on there but who knows.

I was thinking earlier when they said about mris and would it help-that it would help me deal with it and know what to expect and the possible causes. But that it may hinder her if they thought her brain was unlikely to develope as the speech therapy stuff may seem less important if it was thought she would always struggle, I dunno!

Meant to add her head has grown since last year and is now near the 2nd centile.

She also said a few times that we have a gorgeous little girl. I know she was being nice but it was in the tones of look she's still your lovely child whatever (she may havde said exactly that actually not sure now!) and I was thinking whoah we are about to get some crushing news.

Xp was not keen on her at all and barely spoke! I have been googling all eve I should probably stop and get some sleep.

Stop and get some sleep! x

I'm away too I'll be back tomorrow sounds like we've had similar experiences - one thing I've learnt you can make lots of the conditions 'fit' so have a rest for tonight!

Thanks and yes thats true, especially the ones that look appealing when you are worried about the worst case scenarios.

I rang the geneticist today who said because she missed us at clinic mon-they were too busy to have her in the appointment as planned, she needs anothr referral. So it will be two months at least before we even see her. The good news though is she can use the DNA sample they already have so that saves DD's over used and very tricky veins for one more.

I then rang the paed we saw yesterday and said please do any tests you would normally do for her if she didnt already have a geneticist for other reasons and she first said wait for the eeg then said ok she will order some extra blood for chromosome testing.

So we will see,I am very impatient all of a sudden and feel like waiting months and months is going to be impossible, its like her whole future is uncertain. But I will have to distract myself. When she was born it was panic stations as her condition is potentially life threatening so although it seemd ages, it was all sorted and rushed through so we had answers within a couple of weeks.

Its so difficult trying to be patient. But it sounds like they are doing everything possible (just wish it would happen a whole lot faster)

I'd much rather be prepared - forewarned is forearmed or something like that. It's funny because we had OT the day after the apt when Angelman was suggested. I was very upset telling the OT then a few months later when the results were clear I told the same OT and she said 'All that panic and upset over nothing - you're better not knowing what they are thinking' but I don't agree because I felt quite prepared by the time the results were due.

I want to know too this time, I am worried about how awful I felt with her diagnosis after birth and how long it took to feel ok but I had just given birth then so it was worse probably.

I have looked again at angelmans syndrome and in the light of day it seems she doesn't have all the symptoms at all! Unless she has a mild form. So will go back to not knowing and see what they come up with. Hard though!