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Steph19

What would you do? Development delay

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Steph19

DD was diagnosed with a GDD at age 4. They also found at her last appointment that there is a chromosomal abnormality on chromosome 15 but we have been on a waitlist for a geneticist for nearly a year. So no idea what the abnormality could be. She turns 6 in April and starts school next year. I'm concerned as her disability won't be recognized for much longer unless there is another diagnosis.

At preschool she blends in well and I think is quite good a copying social behaviours and is pretty compliant. However I feel like she doesn't properly understand most things that are said to her. Preschool agree her receptive language isn't great and she seems to be more on par with the 3 year olds in terms of the activities she likes to do and how she likes to have fun.

I was concerned about autism when she was younger and had a paediatrician and then the community developmental paed both say they didnt think she was autistic but cited the usual "her eye contact and social skills seem quite good". However I'm now having doubts. I watch her with other kids closely and feel like she doesn't really "get" he social cues. She giggles and says "yeah" and comes across like a toddler (although 5 yos probably don't pick up on that yet).

She is obsessed with animals and actually cried the other say because the ladybug she picked up flew away. Then she cried because the cricket was her friend but she lost him. She sits with our dog and cuddles him, "reads" stories to him. She doesn't care that she constantly makes our 2yo son cry.

She did letter of the week throughout the year and can barely tell me any of the letters now. But can write her name as she has memorised it.

She has trouble transitioning activities. At school orientation she got really agitated as she hadn't finished her colouring when she was asked to pack up.

Her behaviour doesn't add up. Or are the doctors right and we will just have to deal with a learning disability which we don't quite understand yet?

What would you do? I haven't recently brought this up with DH.

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bubba boo

Getting to see the geneticist asap would be a good starting point. Has either paed indicated any other conditions that may be linked to changes to that chromosome? Things like speech therapy and a hearing test if your not already doing them would be helpful. When it comes to autism eye contact is not the defining characteristic and anyone who relies on that needs more training. If you feel strongly that there is more going on take notes of behaviours and videos if possible and seek other opinions.

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BusbyWilkes

That sucks that there is such a wait time to see the geneticist. Who gave you the test results about chromosome 15? Were you offered counselling around this issue?

If your DD hasn't had a recent speech pathology assessment, that would be a good place to start. Make sure they are looking at her receptive language (understanding) and literacy skills, as well as expressive language.

I believe that GDD remains a diagnosis until age 6 or 7, when standardised IQ testing can be completed.

Good luck trying to navigate the system.

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Ozquoll

A year on the wait list and still no appointment?! I presume this is through the public system? That’s a ridiculous amount of time to have to wait. Have you contacted the hospital/clinic where the geneticist works to see how much longer you will have to wait, and to see if they have any cancellations? Is there another geneticist you can book in with instead? Since you’ve already seen a paed. and a dev. Paed., and they weren’t able to diagnose your DD, it seems you’ve hit a brick wall diagnosis-wise until you see the geneticist.

 

Regarding your DD’s social skills, I’d definitely be concerned if her teachers think they’re at a three-year old level - in my experience little girls become much, much more socially complex between ages five and six, so the gulf between her and her playmates may be quite wide by the time she starts school.

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Steph19

I'll add in reply to the above that she does see a speechy weekly as we have NDIS funding for now (our review is next week though!).

Yes the geneticist is through public but I've talked a few people who've had a similar wait unfortunately. In western sydney. Not even sure who to contact as the appointment was made direct with the hospital by the paed.

The blood test results were a totally stuff up. The develop. Paed sent her for full blood screens. The results were then "lost". Contacted her secretary multiple times who just said "if there is anything wrong we'll be in touch." About 8 months later at our follow up appointment turns out the results were in her folder the whole time!! The hospital had sent them a hard copy which got filed away and nobody ever checked them. She said it indicated an abnormality on chromosome 15 but the types of disabilities noted in the report have a lot of physical characteristics which she just doesnt have. So now we have no idea....

 

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DQMission

If you can afford it, I would arrange for a private multidisciplinary assessment for your DD.

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CrankyM

If you can afford it, I would arrange for a private multidisciplinary assessment for your DD.

 

This, also if you go to another developmental pead I would recommend seeing if there is on that specialises in girls and the way they can present. There is a lot of information out there now about how girls present differently with things like ASD and how delays in diagnosis of girls with ASD are common.

 

Also can you ring the clinic or reception of the geneticist and see about going on the cancellation list? Sometimes being the squeaky wheel can help you get seen faster.

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Steph19

I just rang the genetics clinic. We're looking at an appointment in May 2019 :(

Apparently this would only change if I become pregnant....

 

If you can afford it, I would arrange for a private multidisciplinary assessment for your DD.

Who would arrange this through??

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CrankyM

Steph - sometimes there are clinics that have multi-disciplinary services. They are more common in WA because it is a requirement that for an ASD diagnosis there is a panel assessment done by a speech/psych/dev. pead. Often a developmental pead will have a preferred psychologist they work with who will complete things like psychometric testing. It is not cheap though.

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JoanJett

OP, another option for the genetics appointment is to contact the genetics clinic and enquire whether the Clinical Geneticist/s you're waiting to see has any private clinics. It could be worth trying to expedite the appointment that way if you can afford it, because I anticipate that until you have the full genetic information, any clinical reassessment for the purpose of diagnosis will still rely somewhat on that info.

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Future-self

What does the Speech therapist do exactly? Are there specific aims there?

If it were me, right now I would focus on the issues regardless of “what” is causing them that are going to be an issue at school. An OT can be fantastic at working in transitions, working memory, following multiple par instructions, executive function etc. which by the sounds are issues. They can also work on “social speech” as they are doing the activities - everything from appropriate greetings, how to ask for help, making appropriate comments, how to ask to play etc.

I would be adding an OT to your NDIS plan or do it privately and intensely in these few months before school.

.

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rowd

Along the lines of becoming pregnant... our genetics appointment (not in Syd though) was expedited as we wanted to grow our family and needed to know the implications of this. Could you say that this is the case to try and be seen sooner? That wait time is ridiculous.

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reesan

This is an autism focused response

 

The geneticist won't be able to diagnose autism (except in rare cases) - they may still be useful for other reasons, but I'd prioritise a multi disciplinary team experienced with girls to do an asd assessment, and in terms of getting that appointment I"d definitely do as previous posters have said and try to get on lots of cancellation waitlists. I have two asd daughters and we've often picked up appointments within a couple of days from going on cancellation lists.

 

Does the speechie have an opinion re autism? If the speechie thinks she has autism, she may be able to do the speech part of the diagnosis and recommend paed/psych to do the other parts.

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BusbyWilkes

I just rang the genetics clinic. We're looking at an appointment in May 2019 :(

Apparently this would only change if I become pregnant....

 

 

Who would arrange this through??

 

Could you tell a small lie - could you say you were thinking of having another, but need to be clear about the risks before deciding. Wonder if this would change your priority.

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Steph19

We were seeing an OT. Actually we had tried 3. First one was great but went on Mat leave and didn't return. Next one was terrible and the following almost as bad. They just didnt seem to work toward anything. I had them do a couple of sessions at preschool to see what her preschool teachers thought, as I wanted a fair assessment. I trust her preschool educators who've actually been amazing. They said we were wasting our money as the OT wasn't great. Have not been able to find anyone recommended who can fit her in so we stopped.

Her speechy does do some social groups etc and does some great activities that go beyond just speech. So if I stuck to just that I would be happy. We've made great progress in the last 9 months with her.

 

 

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Steph19

 

Does the speechie have an opinion re autism? If the speechie thinks she has autism, she may be able to do the speech part of the diagnosis and recommend paed/psych to do the other parts.

Not sure what state you're in as I know they're all different but every OT or speechy I've seen has said they can not make a diagnosis so refuse to give any sort of opinion re diagnosis.

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Steph19

 

 

Could you tell a small lie - could you say you were thinking of having another, but need to be clear about the risks before deciding. Wonder if this would change your priority.

Like your thinking.

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Heather11
Not sure what state you're in as I know they're all different but every OT or speechy I've seen has said they can not make a diagnosis so refuse to give any sort of opinion re diagnosis.

 

You have to be qualified in diagnosing an ASD. I am pretty sure OTs can't be qualified to do this but speechies can.

 

Okay. I just found this website that clarifies who can diagnosis according to each State's requirement.

http://www.autismawareness.com.au/diagnosis/who-can-diagnose/

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Lallalla

OP, another option for the genetics appointment is to contact the genetics clinic and enquire whether the Clinical Geneticist/s you're waiting to see has any private clinics. It could be worth trying to expedite the appointment that way if you can afford it, because I anticipate that until you have the full genetic information, any clinical reassessment for the purpose of diagnosis will still rely somewhat on that info.

 

We did this for our lung specialist paediatrician who DD had already been seeing through out patients. he wanted to see her at the start of April, through out patients we got an (double booked) app in June, and only after I made them check with him that he was comfortable with seeing her in late July (winter aggravates her condition which was already crap in summer). So I got a referral from our GP, rang his private clinic, who then checked what he wanted to do as they were then booking for May and didn’t know us, and they squeezed us into April. It cost a couple of hundred but I am so glad I did. I would have stood on my head for a month if I’d had to to get that appointment. It made the world of difference to her year. I then also after the April appointment I rang outpatients and rescheduled that appointment for when he next wanted to see her (ish, he’s so overbooked).

 

The only thing is to make sure you carry copies of all the reports to everything because the systems may not talk.

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Chaotic Pogo

This is also an ASD focused response.

 

See this thread for great information about ASD in girls

 

 

http://www.essentialkids.com.au/forums/index.php?/topic/1160853-girls-at-risk-of-slipping-through-the-cracks/

 

DD has ASD. She is WAY better at eye contact and social than her older brother, yet he is level 1 and she is level 2 (requires more support than him).

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sarahec

Is the genetics appointment through Westmead Kids?

 

My son has micro deletion on chromosome 16 and they couldn’t tell me much, just gave me copy of Unique

Article.

 

I’m in Sydney too and if you want to PM me I can give you details of a good developmental paed. I think it’s worth further investigating. It could be asd or something else.

 

Some of my friends have had good experience with Aspect assessments. They have the prices listed on their website.

 

Good luck with the Ndis meeting.

 

Do they contact you when your plan is nearly up?

Edited by sarahec

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Mum of a miracle

Our pediatrician said much the same thing but we pushed to see a child psychologist who diagnosed my son with autism basically on the spot.

GDD often turns into intellectual disability which may get some help but depends on the school.

 

Good luck with the geneticist.

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Steph19

Is the genetics appointment through Westmead Kids?

 

My son has micro deletion on chromosome 16 and they couldn’t tell me much, just gave me copy of Unique

Article.

 

I’m in Sydney too and if you want to PM me I can give you details of a good developmental paed. I think it’s worth further investigating. It could be asd or something else.

 

Some of my friends have had good experience with Aspect assessments. They have the prices listed on their website.

 

Good luck with the Ndis meeting.

 

Do they contact you when your plan is nearly up?

 

Sorry taken me a while yo check this thread but I will contact you for those details thanks!

My daughter has a duplication and triplication on chromosome 15. She doesnt have any of the physical characteristics of many of the disabilities associated with this though so we may also be told nothing much...

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2020selfcare

Does she have dyslexia? as a teacher picked it up mid way through grade one on my eldest daughter.

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