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Welcome to our new SN topic: undiagnosed genetic conditions

(33 Posts)

MNHQ have commented on this thread.

RowanMumsnet (MNHQ) Thu 05-May-16 15:36:58

Welcome to our brand new topic, brought to you with the involvement of our friends at SWAN UK.

A bit of background: SWAN UK was one of the charities nominated by MNers to benefit from our 2015 Giving Week, and the response from MNers and SWAN UK’s members was really impressive - which left us thinking that there was probably something we could do in the long term to help provide a platform for parents in this position to chat to each other and get support. So here it is!

If you're arriving here from the SWAN UK website - welcome, help yourself to a cup of brew, and feel free to have a browse through our FAQs, how-to videos and our guide to getting started. The Mumsnet Special Needs (MNSN) crew are an incredibly knowledgeable and supportive lot and we hope you get the answers, support and help you're looking for. Please note that we at MNHQ are not experts - we believe strongly in the power of peer-to-peer support and the wisdom of the crowd - but we do have some rules and guidelines for posting. Do please report any posts that you think we ought to look at - or just get in touch (contactus@mumsnet.com) if you've got any questions or comments for us.

People from SWAN UK will check in on threads started in this topic occasionally and may chip in with help, advice or links where they think they would be useful.

Why is this topic called 'undiagnosed genetic conditions?'
As lots of you will know, there are many diagnosable genetic conditions that may result in additional needs: Down syndrome, muscular dystrophy, cystic fibrosis, motor neurone disease and Angelman syndrome, to name just a few. Of course these conditions can cause real distress and difficulty for those affected by them - we know that many users of the Special Needs board will be in this position and get support and advice from their fellow MNers.

SWAN stands for ‘syndromes without a name’. It is not a genetic diagnosis, but a term used when a child or young adult is believed to have a genetic condition and testing has failed to identify its genetic cause. Syndromes without a name are also referred to as undiagnosed genetic conditions, unknown genetic conditions or undiagnosed genetic disorders. Some children and young adults affected by a syndrome without a name might be described as having global developmental delay or failure to thrive. They might have learning disabilities and/or physical disabilities. They can sometimes have complex medical needs and epilepsy. Some children may not have any learning disabilities but be physically disabled whilst others are physically fine but have learning disabilities.

SWAN UK exists to offer specific support to those whose conditions are very real, but cannot be diagnosed. Along with the physical and medical needs that come with these conditions, these families are also in the emotionally very difficult position of being unable to put a name to their child's condition. They may also (as a result) find it more difficult to tap in to a body of peer knowledge and support.

So our hope with this topic is that it will provide a place for these families to find one another and help each other out - as well as tapping in to the wider support and advice available within MNSN.

We hope this will be a useful topic - as ever, we're here to hear your opinions and thoughts, so do let us know.

PolterGoose Thu 05-May-16 16:46:00

Message withdrawn at poster's request.

zzzzz Thu 05-May-16 20:14:09

I'm not sure how you know you are a SWAN or just a goose? Very few children have a genetic diagnosis on the board at present. ALL the children with ASD just have it as a descriptor.

misdee Thu 05-May-16 22:23:02

My daughter is currently a swan. We don't fit anywhere.

She has facial palsy but not bells. And not caused by a stroke

She has dysphagia.

She is delayed in her gross motor skills

She can't talk, barely babbles.

We are racking up various consultant appointments with various areas and no one knows why. Her MRI appears fine. We are waiting for audiology and optomology.

She has been referred to GOSH for further testing.

RowanMumsnet (MNHQ) Fri 06-May-16 09:21:02

Hello all. We're sorry to hear that misdee - it must be distressing for you all. We hope you get some more clarity and a better idea of a way forwards from the GOSH testing. (Hope Peter is well though? smile)

We thought long and hard about this - we know that some SN posters have been saying for a while that they'd like more aggregation rather than more disaggregation in terms of MNSN topics and we've yet to come up with a good solution; we also know, for instance, that some posters feel very strongly than Teenagers needs its own space. It's a tricky one to reconcile.

In this particular case though, what struck us really forcibly during Giving Week was the energetic involvement of SWAN UK's parent campaigners, who are understandably very clearly committed to this particular issue. So our hope is that in giving undiagnosed genetic disorders a specific space, we'll give parents like them a clearly identifiable destination where they'll be able to tap in to the specific experience of others in the same boat - as well as discover the rest of MNSN (and, indeed, the rest of Mumsnet) for more widely-shared experiences.

hazeyjane Fri 06-May-16 10:14:16

This could be a good thing. This could be a tumbleweed ridden area of The SN boards.....

....but it is definitely worth a try!

Ds is a SWAN, we are members of SWAN UK and nominated SWAN for giving week.

I think it could be a good place to raise awareness - there seems to be an idea that all children have some sort of diagnosis, but approx 50% of children with learning disabilities or multiple congenital disabilities have yet to have a confirmed diagnosis, however it is believed that their disabilities are genetic in origin.

Many families who have a child who is undergoing genetic testing, but who is as yet undiagnosed will face difficulties in accessing help, because of the lack of diagnosis.

When I joined the SN boards after having Ds, I started a thread called some nonsense like, 'the bumpy road to a diagnosis, does anyone want to hold my hand?' It was huge for me to meet other parents who were going through similar anxieties, tests and fears. Of those posters I think a few went off to SWAN, but most left the SN Boards. There have been short lived threads about genetic testing, but again most of the posters involved no longer post.

I am not sure why. I know that sometimes it feels very ASD heavy on the board (and I don't say that as a problem, it is sort of inevitable, and actually as Ds has lots of autistic traits, It is fantastic having a wealth of support and information). But it may feel as though you don't fit if you are in the position I was 4 years ago, with a boy having blood tests for life limiting conditions, being prepared to have him tube fed because of his unsafe swallow, having professionals talk about dysmorphic features and generally feeling as though you are in a dark room with no lights, and no idea what is behind any of the doors in the room......having something like my bumpy road thread, or SWAN or (hopefully) this board, is like being handed a small torch and finding out there is someone else in the room with you, in a similar state of panic!

So thankyou mumsnet. Would I be ok to link this thread on the SWAN FB board?

RowanMumsnet (MNHQ) Fri 06-May-16 10:36:08

Yes please Hazey, that would be fab. People who use the SWAN UK website will also see a link through to this specific topic from their home page - so if any of you notice some new members wandering around it would be great to give them a warm welcome (we know you will).

RowanMumsnet (MNHQ) Fri 06-May-16 10:43:09

(On the autism point - just because it struck me as interesting - we were sent a Google alert yesterday about Mumsnet's appearance on this site, which aggregates posts about health conditions and treatments on popular forums. According to this site at least, autism is the most discussed condition across the whole of Mumsnet. Mind you, they also think we talk a lot about Rhubarb Compound Tincture Extract, which I can't say I've ever noticed being a popular topic, so who knows how accurate that is...)

zzzzz Fri 06-May-16 11:19:12

grin at Rhubarb tincture coming in ahead of Mirena Coil grin. Does anyone else think that there is a lone poster in a dark corner mumbling "Rhubarb rhubarb" to themselves grin

I lost my last post in an embarrassing techno fail, but the sensible bit of it was to suggest that what would really help the tumble weed darker boards in MNSN would be some handy buttons to jump from one board to another. smile.
People do what is convenient and works for them. If you were posting on SNchildren and could just click a button to SNteens you probably would.

RowanMumsnet (MNHQ) Fri 06-May-16 11:53:57

zzzzz

grin at Rhubarb tincture coming in ahead of Mirena Coil grin. Does anyone else think that there is a lone poster in a dark corner mumbling "Rhubarb rhubarb" to themselves

I've been trying to ban that poster for YEARS

That's an interesting idea about the button - we've been thinking for a while about possible ways to politely signpost appropriate topics, without sledgehammering people into using (eg) Potty Training when they genuinely would rather use AIBU. I'll ping it to our user experience team to see if they can think about how it would work.

hazeyjane Fri 06-May-16 12:01:15

I guess we should be grateful Rhubarb tincture came ahead of bumsex.

My hope is that people come here attracted by the bumsex undiagnosed genetic conditions topic, and explore the rest of the sn boards and find as supportive and friendly a home here as I have.

And obviously pick up a few hints and tips about rhubarb extract tincture along the way!

misdee Fri 06-May-16 12:36:23

Yes the SN board is very Autism focused. And I'm fine with that. I have a teenager going through the diagnosis process again. But I don't need support there as been through it when she was small, and she is a teenager.

But with the baby we don't fit. I popped onto the cerebral palsy post when that was the concern. But she doesn't have that. Her facial palsy doesn't fit into the facial palsy 'boxes' as it's not constant.

So we are bumbling along, with no one knowing where we fit, where to access support.

I don't know if she will walk alone, talk, continue being able to take fluids by mouth or if a tube is needed. I don't know much really. Is her father feet and hands part of her condition or normal baby chub. Are her beautiful eyes and eyelashes, which don't match any of the other children, a feature or not.

misdee Fri 06-May-16 12:37:32

Auto correct fail.

fatter hands and feet

zzzzz Fri 06-May-16 13:01:40

we've been thinking for a while about possible ways to politely signpost appropriate topics, without sledgehammering people into using

grin. Should have asked on the SN boards, we are all about changing behaviour without upsetting or being detected. grin

PetersonPeterson Fri 06-May-16 13:05:14

I think it is a great idea to have a board for undiagnosed genetic conditions. It's something that a lot of people are ignorant about and because parents of children with undiagnosed genetic conditions have very little information about their children's prognosis and future development there are always a lot of questions. I think the SN topic is very focused on particular types of special needs and there are an awful lots of families out there who may find this helpful. Even families who eventually get a diagnosis for their child may spend months or years beforehand being 'undiagnosed'.

Jasonandyawegunorts Fri 06-May-16 17:21:11

The problem with that site is that it takes any mention of Rhubarb and turns it into Rhubarb Compound Tincture Extract.

"My cooking has been .... cookies a-plenty, apple pie, two flans, onions in cheese sauce again, DH will make tamale pie, and, best of all, three rhubarb pies for Dad's freezer. "

"I dont like rhubarb so i didnt order that..."

Frusso Sat 07-May-16 07:58:38

According to this site at least, autism is the most discussed condition across the whole of Mumsnet. that's because it also gets mentioned every time there a therapy about;
Disabled parking
Parent and child parking
soft play
Childrens behaviour
The naughty child at school
Birthday parties
People at work behaving out of the "norm"
E.t.c.

On topic though RowanMUmsnet does it have to be undiagnosed genetic conditions?

zzzzz Sat 07-May-16 08:24:16

I agree frusso it's amazing how many people trot out autism who know of no other neurological conditions at all. confused As though it is the ONLY thing that can be diagnosed. I honestly think some people just think it's a catch all. [sigh] It happens on the SN boards too. People aggressively push for an ASD diagnosis and feel fobbed off by being found not to have it.

I DO think it's different when you don't fit in the box of one particular dx. It's very lonely and difficult to find support. (Though it is anyway to be honest). I have more than one child with disability and the difference is marked between how we have been treated, even though the one with the (then) undiagnosed difficulties was not subtle and will always need significant support.

hazeyjane Sat 07-May-16 08:24:36

There is often an assumption on those threads, Frusso, that when people say Special Needs, they mean ASD, I have seen the This Is My Chil campaign referred to as a campaign to raise awareness about autism - I often point out on threads like that, that a person can have autistic traits, that are part of another condition, without having a diagnosis of autism. That said, I really do think the SN Boards have more posters dealing with ASD than other conditions, partly because it is a more prevalent condition than many others, and partly because the advice and support for ASDs is so good there!

MNHQ, Frusso makes a very good point - would it be possible to change the topic wording to something like - Genetic Conditions, Diagnosed and Undiagnosed.

After all, hopefully most SWANs will eventually become graduate swans ( the SWAN FB page term) when they get a diagnosis, and sometimes they will then find themselves one of a handful of children with that condition, or as in the case of my friends ds, the only case in the world! That can be a very lonely place to be - but posters whose children have undergone the whole procedure of testing and diagnosis, can also find support and offer support to those going through testing.

PetersonPeterson Sat 07-May-16 13:26:44

Yes I agree actually, a genetic conditions topic would be broader and more helpful to a wider group of parents with disabled children.

2old2beamumandpastit Sun 08-May-16 14:59:52

Another one here who feels a wider approach would be more useful. T e main SN board seems to mainly about autism, ADHD and ASD.

x2boys Wed 11-May-16 10:02:03

Ds has a genetic condition although he is not a SWAN as such because the geneticists know the reason for his disabilities, he has a deletion on chromosome 16 it has no name yet but there are a fair few around he does have autism and learning disabilities which the deletion is thought to have caused.

Crasterwaves Thu 12-May-16 19:24:22

I think this would be very useful.

A very close family member has a child with a potentially life-limiting genetic disorder and because the parents were understandably highly distressed I was asked by them to help with researching as they didn't feel up to it but felt it needed doing so we can all advocate the best possible for the baby concerned. I am a long term mumsnetter though I nc all the time and have deregged once.

In the last while we have been going through dx.

Things I would probably have started threads about if we had this topic:

- very concerned about child in family having unusual features, very low tone and not babbling (suspect genetic disorder)
- how to make sense of the testing (mosaic/non mosaic, microarray, germ line etc).
- how to push nhs to do more tests both on baby and wider family who may also have this to ensure we identify what it is and every child affected
- whether to take part in research panels on certain conditions in the hope of learning more
- what testing to ask for in future pgs and how to cope with being pg with terrible uncertainty of possibly needing to care for a second very profoundly affected little one.
- living with no dx and the uncertainty of a spectrum condition which could mean losing the child before 3, the child having very profound disabilities (as now seems likely) or pretty much anything else happening.
- how to tell people about dx

We now finally have a dx for my relative's baby but it is of something very rare so there is no support group and no families listed on contact a family. I for one would love this to cover dx as well as undx conditions as I think the needs of families involved will overlap.

Zampa Wed 08-Jun-16 18:44:54

I've lurked around the SN board since DD was born but have never really seen anything that matches what we're going through. When I saw this topic I was thrilled.

We are one day hoping to be graduate SWANs but until then ...!

gluenotsoup Wed 08-Jun-16 22:32:18

Hi zampa, I remember you from the July antenatal thread. I remember when your dd was born and you were having tests, and but haven't seen you since. I also have a dd with a rare genetic condition, also we do have a clinical diagnosis as she is now five, but I hang around too looking for things that I connect with. It's hard though as her condition is so rare, and I find that it can be isolating during what is already a more than challenging life. Anyway, how are you and your dd? I had a July 2015 dd too.

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