Holding on to a sense of self

[Arabica]

I used to post fairly regularly but I never seem to get time to go on the computer. I have DS, who's 6 and NT, and DD, who's 19 months and has global developmental delay. There's no overall diagnosis but according to our 14 health professionals she has moderate hearing loss (having operation for grommets soon); a squint; hypotonia (a bit floppy); severe speech and language delay; slow weight gain and, currently, a refusal to eat any solids at all save the occasional spoonful of yoghurt, bite of pizza.
I feel as though I've been plunged head-first into a whole new world. So many (dis)appointments, so many clinics, hospital cafes, bus rides that take forever, pages of medical notes. It's very isolating, frustrating and financially draining. And although my RL friends are supportive, none of them really 'get' what it's like to live in SN land. So I'm back! Am looking forward to meeting y'all again--and saying hi to anyone new.

[yurt1]

Hi Arabica. I was thinking about you recently..... Welcome back (gess/jimjams)

[moondog]

Hello Arabica.
Have often wondered how yuo are getting on.
Welcome back.

[Arabica]

Hi there and how are all of you? I can't remember who has a diagnosis and who hasn't. I used to live in fear that DD would be diagnosed with something life-limiting. And that might still happen, one day. But I think it's more likely we'll never really know what the matter is and will just have to live with that.

[heartinthecountry]

Hi Arabica - I wasn't around much when you were posting before (had just had a new baby, no time) but I've been a little more active recently.

My dd1 has a diagnosis of aicardi syndrome. She is 5 and doing incredibly well considering the prognosis.

[Arabica]

Hi heartinthecountry. I have a little knowledge about Aicardi as it was mentioned fairly early on, but ruled out, in DD's case. So I am glad to hear your DD is doing well. Do you think having a diagnosis is a positive thing for you?

[lourobert]

Hi,

My son is 2.6 and has williams and had IS although been sf for over a year. The title of your thread grabbed my attention........I completely lost a sense of self since the dx over 2 years ago, I thought I would be selfsih to have fun again and see friends etc. a weekend away with friends made me realise that I can have both and Ive tried to regain that sense of self just lately and Im so much happier for it.

I got very suuportive family and a few supportive friends but like you say they cant really 'get it' understandably.

welcome back to mumsnet. I hope you find the support yo feel youve been missing

[deeeja]

Hi Arabica, I am quite new. I have 3 year old ds with autism, an 18 year old ds with aspergers, and 5 year old with suspected aspergers, and a 15 month old who so far seems to be NT. None of my rl friends 'get' it either, and the appointments are exhausting. My 15 month old has never been to a mother and toddler group, only drop-in things for sn kids, it is a wierd world!

[Arabica]

Hi lourobert and deeja. Deeja, that sounds overwhelming in the extreme, I only have one to lug around to appointments, while my 6 year-old is at school. I haven't done the drop-in thing with DD much either. But she goes to a lovely nursery twice a wek for 3hrs so she's enjoying that at least.
Lourobert, your weekend away sounds like a good idea. I fantasise about a week at a health spa, surrounded by all the books I haven't had time to read since the children came along. BTW, I know Williams (DD has some of the symptoms but not the heart problem or the facial features) but what's IS?

[heartinthecountry]

HI Arabica - sorry only just saw your message.

You asked whether having a diagnosis is a positive thing.

I would have to say in many ways yes. We were lucky that we had the diagnosis very quickly (within 2 weeks of first being in hospital, about 4 weeks after we first realised something was wrong). it means I haven't had to have any of that 'wondering'. And I do think having a 'reason' for your dc's problems helps in coming to terms with it. I always knew that dd1 had a genetic condition, that wasn't hereditary and that it was nothing I could have done anything about. I think in reality there are very few conditions that children have that a parent could have done anything about (fetal alcohol syndrome being the main exception) but I know there is often that tendancy to beat ourselves up.

On the other hand, I often feel dd1s Aicardi diagnosis has done very very little to point me in the direction of what her problems might be and what to expect. Because aicardi actually has a really wide spectrum. Most girls do have very severe problems and very limited life expectancy. However there are also girls doing very very well; walking, talking, reading,writing, attending mainstream school. And we've recently heard of women living into their 40s and 50s who have the syndrome.

Actually, that 'we' is probably the thing that I think having a diagnosis has helped with. It has enabled me to access support from other people around the world who's girls do have similar issues and to share our concerns and hopes together.

sorry, rambled a bit, but hope that answers your question.

[lourobert]

Arabica- IS is infantile spasms which is epilepsy. A very detrimental epilepsy that seriously affects development. If it wasnt for the IS it is likely that my son would be walking and alot more able than he is just like other WS children his age. Hes been seizure free for over a year now though so hes finally heading in the right direction.

[Arabica]

Glad to hear he is doing well, lourobert.
heartinhecountry, it sounds like life isn't any easier whether you have a diagnosis or not--especially with such a wide spectrum of outcomes and abilities to worry about (I know I would be paranoid).
The geneticist has said many times there are lots of other children 'like' DD (in that they have GDD but no diagnosis) but we have never met any, nor have we met their parents.

[marina]

Just saying a warm hello and how nice to see you posting again Arabica You have often been in all our thoughts since dd was born X

[mymatemax]

Hi Arabica, It can be an exhausting time of appointments & therapies but it does get easier - or maybe you just get used to it, who knows
I think it has helped us that there is an explanation & dx for ds2's disabilities (cp & ASD).
I know a little boy with similar symptoms to your dd & he was eventually dx'd with Cornelius de lang syndrome (sp). Hope you don't mind me mentioning.

[Arabica]

Hi again to Christie and Marina
Can you believe, there is no special needs drop-in or playgroup near where I live (NE London)! Portage run one, but it's just once a month, clashes with DS' school pick-up and is mainly for people on the waiting list for portage services. DD goes to a nursery 2 mornings a week and she is the only child with SN, so far as I know.
Mymatemax, thanks for your post. DD hasn't got Cornelia de Lang syndrome. I think she's going to get one all of her own.

[marina]

I am really very surprised to hear about the lack of facilities for dd round your way Arabica - I know SureStart are very active in inner London and assumed, wrongly, that this would also mean extra provision for babies and toddlers with SN
Is your ds still doing his music?

[eidsvold]

hiya arabica - I have three dds - dd1 who has down syndrome. I live in Aus - if that helps.

Sorry to hear you have been having a tough time. I have learnt there are three types of people - those who never get it and never will, those who have a child with sn and get it, and those who don't have a child with sn BUT still manage to get it.

My best friend is someone who also has a child with sn - we seem to be on the same wavelength. Our daughters recently started mainstream schooling here in Aus.

Dd1 is on her second set of grommets.

[cazcaz]

Hi Arabica,
I'm new here too. I have a four year old boy who has recently been diagnosed with di-georges syndrome. He has very similar symptoms to your daughter, alongside some very poor health.
Joshua has always been poorly and it was obvious that something wasn't right regarding speech and hearing. We were also told that we may not ever get a diagnosis and had resigned ourselves that he was just unlucky when we did get the diagnosis.
Having the diagnosis was very upsetting as it seemed all of his difficulties were already decided before he was born iyswim. On the other hand it has helped with claiming DLA and getting him assesed for statementing as we prepare for school.
It is amazing how much more helpful medics/ lea etc are when you are able to give them a diagnosis. I find this quite irritating as he hasn't changed we just have a name for it. They should have taken it seriously before!

I hope that you do get a diagnosis soon and some more support locally.

[bundle]

hi arabica, lovely to see you posting again.

are you ever around on Mondays - it would be great to have a coffee/catch up, xxx

[Arabica]

Hello everyone! Bundle I am around on Mondayschild-free between 10am and noon and would love to see you, but I no longer have your number. Do you still have mine?
Marina how nice to hear from you. DS didn't get promoted from kindergarten class and we never got a satisfactory explanation--all his reports were super-positive. He's learing harp anyway with the same teacher and doing really well, so sod 'em!
There are surestart playgroups but although SN kids are not excluded, they aren't exclusively or even mainly for SN kids.
cazcaz, great to meet you, does your DS have problems with eating too?
Hello eidsvold, I'm wondering what kind of support you get in mainstream school in Australia? here in the UK it's patchy at best. I'm just starting to gather information so I can be prepared to make decisions when DD is old enough for school.
Do you think grommets helped your DD1?

[cazcaz]

Hi Arabica,
Yes my ds has always had difficulties eating, particularly when a baby with reflux, and since with as it now appears he has a sub mucus cleft palate. As another note on the eating he did refuse any chewy foods altogether untill he had his tonsills removed,(we used to find food hidden in his cheeks!)

He is on set of grommets number three and for him they have helped, although he still needs hearing aids as well as it appears he also has a sensorineural hearing loss.
When your dd has her grommets done it is worth asking if they could conduct an ABR hearing test at the same time. This tests the hearing at the nerve just to be certain that the loss is just due to glue ear.

My ds didn't walk untill he was 22 months old and also has hypotonia, has always been underweight and his speech is similar to that of a one year old. His understanding (thankfully) is completely age appropiate.

If it helps I found that once he started pre-school the help and support grew greatly and I didn't feel quite so isolated. I have also learned to (try REALLY hard) not have comparing the children conversations with my friends as I just come away even more sad for my lovely little boy!

I really feel for you and hope you get some answers soon, do you have a community paediatrician involved? For us it was a turning point as he is under five different consultants but it is the community paed that gives the most support.

(sorry about poor grammar - typing in a hurry!)

[Arabica]

Good to hear from you cazcaz. DD will indeed be having the ABR at the same time as her grommets opsome of her hearing tests have indicated sensorineural hearing loss too. We're seeing the ENT consultant about the op on Thursday. He might be able to shed some light on her lack of appetiteperhaps she has dodgy tonsils too.
We don't see the developmental paed v often, haven't seen her for 6 months, and although very pleasant she hasn't been any real help at predicting what DD will be able to do.
DD's balance is really poor, she has been walking since she was 17 months. This could be due to the glue, perhaps?

[Blu]

Arabica!

I can't work out where these MN years go!