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?!

Sent consent forms back today :)

My Older sister was born in 1968 she has a condition called Anhidrotic Ectodermal Dysplasia. When she was born there were only 10 cases worldwide. My mum was told she would not live the night my sister is now 43yrs old with 2 children of her own.
AED is normally carried by girls and affects boys. My sister is affected by it instead of just being a carrier of the gene. She also has an inversion on chromosome 9.

Hi Shaz - we're waiting for ours still! But now I know you've got yours I'll be on the phone to the geneticist chasing them up

Hi TheLadyEvenstar - lovely to hear a positive story and a reminder that the doctors don't know everything when they make their predictions! It also highlights for me the importance of finding the genetic cause when many have tried to tell me it doesn't matter!

1980, my sister is a miracle to me, I love her dearly and learnt early on that if she is hot then we have to cool her down asap as she has no sweat glands. There are now quite a few cases in the world and like with other chromosomal disorders all sufferers resemble eachother.

Hello Everyone. I haven't been here for ages!

I have no news on the diagnosis front. I realise that even if we get a diagnosis, it is going to be something so unheard of DS will have to write his own prognosis anyway.

The good news is that finally at 2.6 DS started crawling this week. The physiotherapist has been amazed with his progress over the past 3 months. He will still bum shuffle if given the choice, but he enjoys doing his crawling exercises if he is bribed with the ipad.

He is also receiving speech and occupational therapy free of charge from a local organisation.

Anon - I also stopped going to mums and tots groups for the same reason. In fact I was quite relieved when we had to move to another city for DH's job as I left behind all the other mum friends that I had made, just as they ALL got pregnant with their second children. We would love to have another child, but we know so little about DS's condition and I am not ready to play 'genetic roulette' just yet (Maybe in another year when DS is walking).

I also have a 'grabber'. DS will swipe anything within reaching distance: shop merchandise, doctors' pens and paper, my knitting needles. We joke about his 'go go gadget arms'! Shopping has recently become a nightmare and I was just thinking this morning about whether it was normal for a 2.6 year old to hate going around a shopping centre in a buggy or whether it was another thing that I had to worry about.

I used to get quite hurt about the disgusted looks I used to get. DS is HUGE for his age (probably 4 kg overweight) and still not walking. I can't say that I notice the looks anymore, but maybe that's because I don't go out so much.

shaz298 The DDD study looks really interesting. Sadly we are not involved because we are in Australia.

Take care all!

Still in PJ's

Thats great about your DS, yay for him!! bet your so happy!

I wouldnt worry too much about going round shopping centres, my DS absolutely hates it, but im comforted by the fact that my 2 neices (4 and 7 and NT) are just as bad!

Feel kinds jealous that your DS is getting speech therapy! my DS only had 6 sessions and they decided to review him which took 4 months to come through then the woman was a complete bitch to my husband, trust me if I was there she would have left the office red faced! We get a letter 2 weeks later saying yes DS is very behind on his speech, we'll review him again in 3 months! Why if they know if he has a problem are they not doing something about it?! I get so angry sometimes, he just seems to be forgotten about :(

Hi Anon
That speech therapist sounds awful. It appears that access to most therapies is the luck of the draw, unfortunately. Last year we moved from one Australian state to another and DS gets far superior care where we are now. It almost makes up for moving from Queensland (the Sunshine State) to a much colder, greyer place.

Hi all, we had the results back from DD's ECG, entirely normal so thats a relief. EEG today to test for abnormal brain activity so I got her up at 6am after putting her to bed three hours later than normal (she had to be sleep deprived then will have melatonin too.)

Anon how is your DS getting on at nursery?

Just got back from holiday, DP proposed while we were there so had a good time! Extra time with DD made me worry more though, anyone else get that when they go away? I don't know why but holidays always make me notice her issues more. Maybe its without the usual playgroup routine, more time together etc.

Hi Used2

How exciting that your DP proposed! How lovely for your family! Good news about the ECG, good luck for the EEG too.

Strange you saying that about holiday though, I work part time and I worry more when I have my days off with my DS, cos I spend much more time with him and feel guilty that maybe im not enough to stimulate him.

He's doing good at nursery, knew he would settle in quick though, he aint the shy type!

Oh thats good, DD is like that too it is one less thing to worry about at least.

I worry on my days off too, although sometimes also at work tbh as I work with families with children under five, it's when the two year olds are chatting away I think oh crikey DD has a long way to go. But yes I think its extra time and just the sheer hard work of it.

Thanks for the congratulastions, am still in party mode a bit, came back to cards and gifts all very exciting! Today the eeg went well, as in DD did as she was told and was amazingly still, and slept on cue. The melatonin made her very compliant but then very groggy so we went back to bed this afternoon, all routine is shot now! Will find out results in a month. The lovely girl doing the eeg said to make sure I ring the consultant for news if I haven't heard within a month. I am sure she has to say that but I had to really try hard to stop myself from saying why what did you see?! It tests for brain abnormalities and areas where the brain isnb't developing properly too so I am kind of expecting some news but I know sometimes it doesn't show things that are there and others it gives false positives so isn't an exact science.

Oh congratulations used2be that's lovely news and great news on the ECG - hope it's not too long a wait until the results of the EEG. At least it went smoothly!

Hi stillinmypjs - fantastic news about the crawling! I was telling my DH, it's really lovely to hear and makes us focus even more on the physio! We have a buddy roamer home this week for a trial. DS is tolerating it and took a few little steps with a bit of encouragement :)

Hope everyone else is well - I'm counting my blessings, I can't stop thinking about Gingegirl and her little boy :(

I know what you mean 1980, I cried when I read her post so sad, he was so adorable too.

Thanks 1980ssport!

Yes to counting blessings, so so awful and shocking.

I had an appointment for the geneticist arrive today. I was told I would have to get the doctor to refer me as DD's learning difficulties are separate to her genetic condition which we have had genetic counselling for before.

Anyway I hadnt got round to going to the GP for a referal yet although the letter the paed sent last week was sent to the GP and requested one. But the appointment is in less than a month which is really not normal it was over three months when DP was referred for tests and i was told that was the normal wait. So bearing in mind that she has had bloods done to check for chromosome abnormalities recently I am worried that the appointment is soon in case it is to tell us something.

Hello, I have posted several times on SN threads about ds (10 months), who is under investigation for various delays.

He has a load of blood tests tomorrow morning (chromosomal analysis, amino acids etc). I am crapping myself about the whole thing, but have chosen to focus on the practical element of them actually taking the blood.

Can anyone tell me where they take it from? Is it from the usual middle of the arm area? Also, I am panicking about being to hold him still enough, I have had blood taken several hundred times, so know how long it can take, especially if there is difficulty finding a vein.

Hi everyone and hello hazeyjane.Really feel for you tis really horrid when you are at this stage.Try and take one day at a time-easier said than done i know.When my dd had to have bloods done at an early age they put cream on to numb the area-if they don't i would insist on it.If it is easier for you ask a nurse to hold ds.looking back i wish i had but we are all differant.They will probably wrap him in a blanket maybe you could take one with you.They usually take from the top of the hand in little ones.hth x

Hi hazeyjane, my DD has had a lot of blood tests from birth (twice daily to start with :-( ) and they usually have play workers who distract them with bubbles and pop up toys and the like. I agree the cream is good too. Good luck with it, they forget quickly at this age luckily and as he hasn't often had to have them done that should mean the veins are better I should think.

Hope everyone is ok.

Hi Hazey - good luck for tomorrow. DS always had his blood taken from the top of his hand, they put the numbing miracle cream on and it takes about 30 minutes to work. He usually struggles at the start but I sing lots, make funny noises and DH points out the pictures and dances about. It's always been over very quickly and DS never seems too bothered! So hope it's the same for you!

Hey Growly - how's things?

Used2be - I wonder if the Docs realise how we try to second guess what an unexpected phonecall/apt means! Can you phone and ask if there's any results?

Thats what DP wants me to do, he said just ring and ask what the appointment is about. I feel a bit stupid though as had said we wanted to have an appointmnt about the learning difficulties so she would have been expecting a referral. But yes as it's so quick it is worrying me. Maybe its better to get a reputation as being a bit pushy and panicky than to spend the next three weeks worrying and wondering.

DS's geneticist called us 'proactive'! Lol

Hi HazeyJane. It is always horrible when your baby is being prodded with needles. The numbing cream is the way to go. I put it on myself once and it is really good. DS gets really cross and makes a lot of noise about being held down, but I stay at his head and sing or tell a story into his ear, otherwise I find an app on the phone that he likes and show it to him.

My DS has had far too many blood tests and because he is such a chubba bubba he is really difficult to get blood from. They usually put the numbing cream on the backs of his hands, the inside of his elbow and the front of his foot and see where they get lucky. It is a good idea to make sure that he is well hydrated as that will make things easier.

I hope that it goes well tomorrow.

take it as a compliment! I think I worry too much about what the professionals think. Once I had a thread on here upset because I saw DD's surgeon at sainsburys and he blanked me! On a happier note, DD's latest paed report says I support her well so I think they like to see proactive parents!

We'll take it as a compliment even though I think he was thinking 'pain in the ass'!

We recently needed the geneticist to complete a form for us - he asked us to post it in! The last letter we got from his office took 28 days from dictation to arrival at our house!!! So we emailed it to his secretary, cc'd him and hand delivered a completed copy the same day so it only required his signature!

I'd never do anything like this if it was for myself or DH!!

Right off to bed - night night everyone!

Can I join you ladies please?
Back story: two beutiful DDs,
DD1 is 8years old and has Autism and tight muscles that they dont know the reason for, aswell as club foot and physical delay.
DD2 is 3 years and has sensory processing difficutlies, Autism, language disorder and hypomobilty.
We have been referred for genetic testing because aswell as all of this, there are 3 cousins with CP, one with adhd, 3 with hypomobility, and a further 2 going though dx for ASD.
DH also had a type of cancer that is carried on the genes as a mutation but not passed on to other family memebers.

We were only referred this week to see the gentenatis (sp??) this week, but can someone talk me though what happens from here :)

Thankyou for the info about blood tests. For some reason the paed said they wouldn't use the Emla cream, I wonder why.

Then it is just the agonising wait for results. I'm very 'proactive' with these things - ie- a pain in the arse! It seems to be very easy to get lost in the system though, so I think it is good to be a bit pushy.

I've just got to remember to focus on ds, and enjoy him, it is very easy to get distracted with worry.