Hello I am new

[Claennister]

Hi, I am new to Mumsnet and wanted to say a little hello, an intro into our situation and maybe see if there are others in the same boat with us.

My daughter A is 3 years 9 months. She doesn't have any definite diagnosis of anything but lots of suspicions and failed screenings. We have a genetic condition in the family (Ehlers-Danlos Syndrome)but there is no test for our subtype and clinical findings cannot be made until she is 6. She has asthma, though even that is "respiratory problems similar to asthma" because they don't diagnose children under 5. She has a moderate hearing impairment, cause could be genetic - jury still out and getting no help for that.

She has met all her developmental stages not quite late enough to be formally late, but always in the final month of "normal" - sitting at 9 months, crawling about 13 months, walking 22 months, starting to make 4-word sentences just now. She was slightly premature and a very traumatic delivery and a week in the SCBU.

We tried potty training again this weekend, but that was a total no - 7 pairs of wet pants and a teaspoon of wee in the toilet on day one (toilet every 15 minutes for a 5 minute sit) and 8 pairs of wet pants to zero successes on day two. I guess she will probably train shortly before starting school, but there is a nagging doubt maybe she will not be capable - combination of EDS and the fact she has one of those "sacral dimples" that they will not investigate until she has trouble potty training, and she cannot officially have trouble till she is at least 4.5.

so, lots of chasing around and not knowing, going to the same old appointments again and again, having to rely on charities for any information... I'm sure it's a very familiar story.

And then everyone comes and judges me because my daughter's issues are not diagnosed and not obvious and she's not "that disabled" so I must just be doing something wrong, or they tell stories of their aunt's neighbour's daughter who was "just like her at that age and turned out normal" which belies her disability and runs away from the possibility, or jump on every success to reassure me she is fine because she can do [insert far-from-age-appropriate developmental milestone here]. And now we have to tell people we gave up on potty training again, like it was a choice. We'd love to do it, she costs a fortune in nappies, she pees more than 15 times a day and wants a fresh nappy on for each one, but is unable to tell she is about to go. That's really expensive!!! No hope of prescription nappies because of all the usual "she's almost within normal".

Anyway, I could go on forever, just wanted to say hi.

Hi and welcome..my DD is 3 yrs 8 months and also has no diagnosis yet, it's very frustrating I know.

The people on this board are lovely and SO supportive.

Hi Claennister,
Welcome to the SN board
I agree with fanjo, the pre-diagnosis bit is really frustrating. It seems like everyone in your circle is suddenly an expert on your child, doesn't it? I used to doubt myself at times, but trust your instincts because you know your daughter best.

My dd1 is 9 and has Asperger's.

You will get lots of help and support on here.

Claennister, hi and welcome

It is very frustrating, isn't it?

How does your DD do in other areas? Does she play well, get on with other children? I am sure you are relieved she misses the cut-off for school!

My DD1 is almost 4.7, and she has a brain malformation and epilepsy. This gives her delays in all areas. She sat late, rolled late, crawled late, didn't walk until 23 months, etc.

Have you looked into claiming Disability Living Allowance for your DD? It would help with the nappy costs. Also, she may well get nappies once she is 4 from the incontinence service.

Re: Potty training, we tried once with DD1, and it failed spectacularly, to the extent that she seemed frightened of the wee. A few weeks later we just went for it, and she was dry the same day. She was 2.5.

But DD2 (who has no SNs) took aaageees longer. She would have moments where we thought we'd cracked it, then regress completely. Poos in pants days after pooing consistently in the potty. We had to decide to just go with it, regardless of the number of pants we went through. She did get it after that. It was just too convenient to wait for a nappy to poo in, or wee on the floor!

Hi and welcome to the sn board, i have 2 dd's, dd1 is 6 and has Aspergers, low muscle tone and we think dyspraxia (struggling to get a dx), dd2 is 4.4 and has Autism (but not sure where she is on the spectrum), we are also having problems with potty/toilet training, dd2 will be starting school in september and i think she will still be in nappies.

Hi Cleannister,

I agree with you about how annoying it is with everyone trying to reassure you she is fine. It used to drives me nuts. And unfortunatley, as my son got older, it turns out we were right, and hitting all those milestones late were signs of problems. (In our case mild ASD).

I think all of us here have encountered lots and lots of judgemental friends people.

So now, I have a much smaller, but much more supportive circle of people I call friends.

Welcome to Mumsnet

The SN board is a really helpful one, I have gotten so much advice on here, so much more than the proffesionals tell you!

Hi

I have 3 kids, a 6 yr old girl, almost 5 year old boy and a 19 month old Evil Genius who is trying to scare me to death with death defying stunts. My older boy has ASD, which includes his speech delay and disorder.

This is a great board, I have felt very, very judged IRL, almost to the point where I felt people thought I wanted DS1 to have something wrong. It's difficult. So it's great to come here and share with people experiencing the same.

Welcome x

Hi another welcome to the board

I have three dc's ds1(15), ds2(11) and dd(7)

ds2 has asd/ as, dyslexia, dyspraxia and mild hypermobility.. Poor thing he got the rough end of the stick.

Hello claennister just to say my dd is 4.2 and sill has no dx. She has devlopment delay and severe speech delay all milestones were late sat at one walked at two still not potty trained as wont sit on it without nappy on. Have now filed in the form to get 4 free nappies a day not quite enough but it will help. We are at an annoying stage at the moment getting statement ready for school she is in nursery and teacher has said she will struggle with reception but ed scicologist seems to think she will be ok but she has only seen her for one hour and a half session. Im quite new to mums net came on here as felt I was on my own with it all but have now realised there are so many parents out there with beautiful children with lots of development delays the same its quite comforting.

Hi I have 4 d. And ds3 is my pickle he has mixed bag of dx but EDs is something looking at I to hAve type :3

Oh and the astma that bull ds 3had a dx of it from 9 months ds2 had dx at 3

Hi Claennister

Welcome! I'm sure you'll find that you get lots of support and helpful info on this board. I have found it a godsend.. There are some lovely and very well-informed people on here.

I have 2 kids - my ds is 6.6 with no sn..and my
dd is 4.3 and has Tuberous Sclerosis, but was diagnosed a very long year after her first seizure and it was such a frustrating and scary time..

The good thing about this board is that it makes you realise you are not alone and helps to ease the isolation I often feel in RL..

Keep posting!

Hi Claennister,

Welcome here - I have found lots of good advice here.

I have 3 dc's, the last one has severe physical disabilities and SLD, PDH, Bronchiectasis, Scoliosis, Hypotonia.....I could go on but won't.

Start threads whenever you need - someone will find you to chat.

Hello and welcome! I have a DD who is 3yrs and 11 months. She has no overall diagnosis but has global develpomental delay, so we do get quite a bit of help with OT, SALT, physio, etc.
DD seems to have no idea about wee (she seems completely oblivious to it and cetainly doesn't say or do anything to indicate that she needs to go) and she also has sacral dimples. Nobody has ever mentioned that the dimples might be connected to the potty training issues: can you tell me more?

Hi Claennister

My ds and dd have dimples, you mentioned it in your initial thread do you think it is significant?

Hope you don't mind me asking but my ds with various issues has a deep hole and I have been told it is not in any way related to development delays or potty training.

Hey there- I'm new too.....I understand how you feel as my DD has autism, but you can't tell by looking so I'm always being judged by folks too!

Rachel

Hello again everyone, nice to have a warm welcome. I will try to address some of the things people asked, etc. but if I miss anything it's not personal, I just forgot! My computer is on its death bed at the moment.

AvrilHeytch How very interesting. There is some uncertainty whether I have type I or type III, as I have too many of the things from other types, like kyphoscoliosis and severe skin involvement. Your story could have been mine. DD delivered at 36 weeks but I'd been in labour for ages. She was small and her time in SCBU was initially because of severe hypoglycaemia also. They fed her fortified formula with glucose in it to try to get her conscious a bit, but she kept throwing it up in projectile fashion (she used 12 bath towels in one morning!) so they took her to SCBU for a drip, NG feeding and oxygen with monitoring.

She has the same thing that when she does a full developmental workup her fine motor is either spot on or even better than normal, but her gross motor was really late, which is typical in EDS. She did have some physio to get her walking, but we had to pay for that ourselves. She also needed ankle-high boots, within 48 hours of getting ankle boots she was walking, she just needed splinting by the boots. I am just a bit worried in case the trouble she has with potty training is related to the EDS thing, cos bladder problems can be a part of the severe types also.

BigWeeHag I know just what you mean about people talking like we want her to have something wrong. We are desperate for her to have some hearing aids and not that keen for her to have an operation and then people say don't we want "the best" for her, why not try for her to be "cured" and why on earth would we want her to be deaf? We don't! But given that she already is, we want to do something about that!

It's gotta drive you mad that they won't give you more than 4 nappies a day when the children's hospital here only gives one size of nappies for all babies and children and they are Libero size 7. Anyone who has had to buy Liberos knows just how expensive those are, why not get regular store-brand nappies for babies and spend the money letting people who need Liberos get more of those with the money saved?!

And I so relate to the people doing assessments based on seeing the child for 20 minutes. My daughter takes 20 minutes to warm to new people, so they get to dismiss all our concerns by saying she was just shy. But they need to get through the shy part and see what she really can and can't do. She scored a nice round zero on her speech and language assessment!

Arabica The sacral dimple thing... they usually ignore them because 99% of them are just a dent in the skin. But if they are very deep, have a bit of hair growing out of them or you can't clearly see the bottom of the dimple then they may be a reduced form of Spina Bifida, sometimes also called a Tethered Cord or Tethered Cord Syndrome. The child may have some difficulties with the nerves that come from the bladder, so continence can be an issue. The longer the cord is tethered the more the risk of injury to these nerves, but they won't investigate most dimples until a child gets to be very, very late in potty training. They might bother to arrange a scan for any dimple which is very deep with a concealed bottom and a thatch of dark hair, of if the child's bottom cheeks don't seem to be quite level, or the crease under one bum-cheek has more folds in in that on the other side. They are not worried about hers, and really neither are we because her dad has one that has given him no trouble at all, but hers is bigger, so it will be a relief to see her potty train.

I always forget what the rules are about posting links to other forums, I go to too many places to remember what you can and cannot do where, but if you search for HMSA it should take you to a hypermobility site, including all the different forms of hypermobility and EDS, and in the parent and child section there are buckets of posts about late gross motor development.

I am afraid I can't point you to anything more clinical except that the hypermobility specialist I saw Prof Grahame said this delay is normal in EDS. Professor Howard Bird at Leeds clinic will diagnose children from the age of about 2, particularly when he sees a whole hypermobile family. I think it is likely to be worth my while seeing him to get it confirmed or ruled out in my daughter, as then we would get to say to the various clinics that she does have this, not that she might have. You say that something is suspected and it is clear they are just not listening one tiny bit.

My dcs both have EhlersDanlos III; they were both induced early (37 and 36 weeks) due to IUGR. Both have respiratory symptoms, though in dd's case I think it is more a tendency to hyperventilate rather than actual asthma.

Dd walked late (19 months) and always very unsteadily. Potty training was normal and she was dry at night straightaway, but she has had incontinence issues in daytime throughough most of her childhood. Didn't affect her potty training though. No learning delays, but pretty bad problems with balance until recently (she is now 13).

Ds seemed healthy until he hit the 7 yr growth spurt and then started putting joints out. In retrospect his fine motor control was always very bad, we found out very late that holding things hurts him. He never mentioned it, because he thought it was the same for everybody. But needs help with writing at school.