Welcome to our new SN topic: undiagnosed genetic conditions

[RowanMumsnet]

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 , 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 ([email protected]) 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.

Sorry, I have been in hospital with dd, and so only just had chance to get on mn. I saw your other post on this topic too. We have a clinical diagnosis but as of yet we can't find the affected gene, and all karyotyping micro arrays, and single gene tests have come back normal. I just want to now have a definite answer even though I know that it won't really change anything. Dd is almost 6 and we have been having gene testing since she was four months old so I can relate to your situation. We are back at the geneticist on Wednesday so see what happens then. I saw you are also part of the 100,000 genome project, so are we, but it hasn't yet yielded any answers. Our dd also isn't quite fitting the pattern outlined to us, and when I look back to her first year I realize how far we've all come as a family but it has been so hard. However, I know how lucky we are too, as dd loves her pmld school, walks short distances, and is happy. She doesn't speak and is fully tube fed,but every tiny achievement is celebrated.
we are in Manchester by the way. Good luck, and like you we can take a step at a time in this journey x

Sorry to hear that you've been in hospital with your DD Glue I hope that everything is OK.

We're in Manchester too so we're at the 6th floor genetics suite at RMH a few times a year. We're seeing the haemotologist at the Children's Hospital on Monday and then neurology on Wednesday!

We're not part of the 100,000 genome project (yet?) as they're firstly looking at the genes which seem the best match for DD's "symptoms". If that yields nothing, then full exome and then ... I don't know.

I'm keen to have more children by I'm a bit long in the tooth. I have to weigh up whether DD's issues are likely to be hereditary versus missing the boat fertility wise.

My new mantra is "comparison is the thief of joy". Not long ago I was over the moon with something DD had done but then lost the pleasure by comparing her to "normal" babies. I can't help it and I know it will drive me mad so I need to celebrate DD's achievements regardless of how small or delayed they may be.

Thanks zampa. Dd is on the mend now, but it's easy to worry about her excessively. She has also just had a mini Op on her heart at alder hey, so still a bit weak from that. Genetics for us is also on the 6th floor at SMH under Prof Kerr, most of her care is at RMCH with the odd bit here and there. It's a bit of a second home, in a weird way.

We have 3 dds, youngest 10 months. It was a huge decision to have another baby as we worried about the likelihood of having another DC with the same condition, as the impact would be enormous. We were reassured that the likelihood of it recurring the was minimal. SMH were great, and did extra scans in fetal medicine, genetics were involved and liaised well with the antenatal consultant. It was a worry in the sense of "what if.....", but they did everything they could, and now the decision to have a third was one of the best we ever made. She is has brought such a lot of joy back, it feels like we have been given another chance. I am 41 so the time factor was there for us too.

There are times when I make the inevitable comparisons and wonder what might have been, but they are becoming less. When they do bite the pain is still raw, but I genuinely think it's a normal part of the acceptance process, and part of the love you have for your child. I try to keep the mindset that her condition is only part of who she is, and not to allow it to define her, but or us as a family, and that we cannot control what has happened, only our thoughts and responses. It works for me most of the time, but doesn't negate the amount of strength it needs to get through, or that her needs underpin most of our decisions, big and small.

You sound as though you are doing really well, from one mum to another. Your dd is still tiny really, I hope there are times when you can just enjoy her and make those special little memories. It's something that I wish I had done more, but I look back and mostly just remember the worry and how ill she was in that first year. Now, things are a little easier.

Hope all goes well this week in neurology, think that will be one of our next stops. X

Is there still anyone out there??

We were never a swan, i have a line of coding to tell me which bot of what os affected but am yet to find anyone else with it! I've tried to find posts on MN generally around kids with unusual shall we say genetics to no avail. At present 14 mo som appears NT so like others don't really seem to fit anywhere

Hello

We are at the very beginning of genetic testing with our 18 month old. She has congenital scoliosis and external hydrocephalus, we've had 3 visits to the geneticist so far and just yesterday the doctor said she was a puzzling case and he would take her notes to a monthly meeting with colleagues to see if anyone had suggestions.

I guess when we had our genetic testing they simplified the process but it must be so frustrating just being told its something but we don't know what!

Hi. My baby boy is 4 months old and has an undiagnosed genitic condition. He has agenesis of the corpus callosum, fluid on the kidneys, central and obstructive sleep apnea and requires bipap machine at night. He is also ng tube fed. I'm really scared of what the future holds. I'm mainly concerned that it is life limiting and I get so upset that the consultants can not tell me if it us or not. He smiles laughes rolls over and gives out if he is uncomfortable :-) I love him so much and I am so scared that something will happen to him :-(

Hi, This thread seems to be suffering from severe tumbleweed. Is that because posts are covered elsewhere?

Swan child that has gosh scratching their heads (so far). Swan Clinical Nurse at gosh, from Roald Dahl charity, is excellent btw. 100,000 Genome Project.

Not only is swan confusing but not having coherent info, because they have been honest enough to say they don't know how to describe what they are seeing, exacerbates our confusion.

Does a suspicion of delayed myelination (21 months old, maturation mri pending) usually come with a list of 14 'multi-systemic neuro-developmental' problems and counting?

LegoHead - coz that's how I feel 🤖

Help me.

My son is 3 nearly 4 and it says on the letters from Neurologist possible Neurogenic condition as yet unnoticed.

He doesn't walk. He's getting stronger SLOWLY but slowly. He can now get up easily from leing to sitting. Bum shuffle. Pull to stand if he's in the mood. He's so weak. He has the following :

AtaxIan
Hypermobility
Hypotonia
Global development delay
Intention tremortgage
History of 2 seizures (he also had a high temperature on both occasions ) and is now on sodium valprate.

All brain scans and tests to date are normal including the microarray. We are waiting for epilepsy test from the children's hospital on London. If this comes back showing nothing then we go down the genetics route.

I'm so utterly terrified. He's getting stronger and his understanding is really coming on. He has started in a main stream nursery until some plan comes into force then we can look at special schools. He's saying single words but they are a bit slured sometimes. Other times clear. His ataxia is making his torso very wobbly.

I'm terrified he's going to die becaue of a genetic condition. Noone in mine or DH family has anything. I cant eat or function. I'm suffering with PTSD from his first seizure which happend randomly in the night time. He completely stopped breathing and was put into a coma on ICU. I had to give him CPR in the midle of the night until the ambulance came. They are doing tests for a gene that causes epilepsy or something and that should be back soon. He had the seizure 24 hours after the nasel flu vaccination and he had a temperature that went plus 40. Neurological related? Temperature related? We just don't know.

I work with children the same age as DS as I'm a nursery nurse. I'm finding this hard. I keep my phone on me all the time as I'm terrified it will ring. I find this hard becaue all these children are meeting their developmental mile stones and my DS is not. I'm angry it's so unfair. I have to be happy all the time and inside I'm dieing.

I can't bring ds with me to he setting I work at becaue it's a private schook nursery and not suitable to meet ds needs. My coworkers at work bring their children to our nursery and I'm jelouse that they have their healthy children there to hug. I havnt got mine and he's poorly.

How do people cope worring waiting for results and the not knowing? I have been on Google today for the first time since he got diagnosed with ataxia and I'm scared. It's talked about lower life expectancy becaue it's a generative desease. I don't understand it. He's getting bloody stronger tho but still wobbly

I'm sat in gp surgery now. We need to arrange him going onto the children's ward for his booster vaccinations. He needs to be under observation for a few days after them incase he gets a temperature.

I'm also asking for a referral to a charity for ataxia. I'm so scared.

SWAN is on Facebook. In December we will get a diagnosis for my 14 years old son. I think it's from my side off the family but we will find out. I always thought I had dysplasia & he got that & autism.

It's now changed to February sowe will find out what he got.

Hello, one of my twins had white patches on her skin some looking like ash leaf. I had the same since I was very little and I always thought it’s atypical vitiligo because i hadn’t had any other problems but when my daughter started to show this patches and she wasn’t meeting her milestones I took her to the doctors who thought it could be TSC. We had all the investigations done including a MMR of her brain when she was 1 year old but nothing beside the white patches on the skin. We went to the genetic clinic who concluded that the patches don’t become fluorescent in the ultraviolet light and because she has no other signs they concluded it’s not Tuberous Sclerosis. She still had a genetic test done and the result came negative but they said that the test wasn’t complete but they don’t think it’s necessary to continue since there is no other signs. My daughter she has been seen by a team of dermatologist who thought Martha would be investigated for Neurofibromatosis but the Consultat again did not think she should have it done since other symptoms are missing.
My daughter is 3 year and 8 moths and she has Speech and Language issues.
Sometimes it seems she is trying to put order on her thoughts. She has been seen by a Pediatrician who recommended other assessments for Autism and genetic tests for the neurological diseases.
She has also developed unpigmented patches on her eyes. He eye sights is not affected. The oftamologist said that it could be related to neurological diseases.
We are going back to the genetic clinic in February. Have you had any experice like this? My daughter is fine otherwise, she’s intelligent, Her speech is just one age group bellow but she’s able to communicate. No other real concerns except speech and language, white patches and 3 cafe-au lait patches, unpigmented eye patches.
The nursery don’t see any problem with her and although some speech and language issues, they think they don’t have enough to call for a EP to assess her and ask for a ECHP plan. I am worried, she is starting school in September and she’s not going to have a plan in place and she won’t get the support she needs to achieve to her full potential.
I also fear that new signs might apear later in life. I am stressing a lot and I would like to know if anyone else is going through the same thing.

@Twingirls15
I have neurofibromatosis type 1 ( nf1 ) and since my diagnosis I must have read thousands of medical paper and every book I could find.

Nothing in your description rings any bell, on the contrary, it all points away from NF1. So I did a quick research on pubmed and came across two articles you might want to read.
In my experience, doctors are highly uneducated on Nf1 and other genetic syndromes.
You have done two tests which generally have red flags for NF1 an MRI which for NF1 might show an optic glioma, and an eye which might show (even if usually it is later in childhood ) benign cone shaped brown growths. These two came back clear which is great.

You said she had genetic test done/ Do you know which genes they tested for? They don't usually sequence the whole genome but a single or a handful of genes. And have you asked which neurological diseases they want to test her for?

www.ncbi.nlm.nih.gov/pmc/articles/PMC4410829/
and
escholarship.org/uc/item/9hm4n1kg

our son was diagnosed as autistic in October last year and had blood tests for genetics.
we have since been informed that he has chromosome micro deletion 23.1 and we have had blood tests to see where he got it from.