Anyone got a child with a very rare / unknown genetic condition?

[SinkGirl]

Had a call with consultant geneticist today about DT2. He has a several separate diagnoses and has been having tests of all kinds since he was about a year old (he’s 4 now). His genome was sequenced as part of a study, and he’s had a battery of genetic and metabolic tests.

So far they’ve turned up nothing at all. Speaking to the geneticist today there’s a couple more panels to run on his genome and an imprinting test, but if those turn up nothing then they think he probably has a genetic syndrome that’s not yet known about.

They seem extremely sure that there must be something, which surprises me (my personal experience with doctors is if they can’t find anything obvious they stop looking quite quickly!). But I guess it would be very unlikely to have these several seemingly unrelated conditions without some kind of underlying issue?

She said that they may want to do a research project on his genome in the future - I guess to try to find something different rather than comparing it to panels but I have no idea what that would mean.

Just wondering if anyone has been through this, whether you ever got an answer or whether it’s still unknown? The idea that he may have something genetic going on that’s completely unknown is worrying - I’m still hoping they find something known.

My DD had a fairly rare syndrome but it did have a name and a small UK support group. She had multiple disabilities and health conditions which meant she went to a SEN school. We met a number of families whose DCs went there and who had no formal diagnosis, so it isn't uncommon. In fact there is a support group for the very purposewhere you might get some useful information OP www.undiagnosed.org.uk/about-us/

There's an organisation called SWAN - syndrome without a name which may be helpful for you. It's surprisingly common to be the only one, well common perhaps not but I have met several kids who who are thought to be the only one and one had the syndrome named after her when a second case was identified

My son has taken part in the geonome study, think its called 1000 geonomes. He was diagnosed with a condition so rare it doesn't have a name.( not comfortable putting it on here) me , my son and DH were all tested. It took about 2 years to hear and we were told they are carrying on testing so weay get another diagnosis. The diagnosis he got accounts for his severe SEN

Thanks to you both. I have requested to join the SWAN group on Facebook but it looks very quiet.

DT2 has multiple conditions diagnosed including autism, he was born with a rare endocrine disorder, he has a disorder of visual pathway and some damage to his brain, he had IUGR, developmental regression etc.

He and his twin brother (who has no issues besides autism) now attend an ASD specialist school. I’m now wondering whether DT2 is not autistic but has some other condition with similarities - DT1 is pretty textbook classic autism though so that would be a coincidence.

I just assumed that if they didn’t find anything they would give up looking, and maybe periodically check against new profiles as they are identified. It just worries me a bit that they are so keen to investigate so much, but I know that’s ridiculous as if it’s unknown then they can’t know whether it’s anything really worrying or not. For a while they thought it was MPS after a borderline result so that was worrying but they’ve ruled that out now.

Yes. My DD. She has a “working diagnosis” but really doesn’t present like any one else medical experts have seen with her symptoms.
We also have no results from the 100,000 Genomes Project (yet). She’s 3 now.
The strangest thing to me about her is how she develops as if she were just about a year and a half behind her age but also has very little muscle.

@TalesTheCat

My son has taken part in the geonome study, think its called 1000 geonomes. He was diagnosed with a condition so rare it doesn't have a name.( not comfortable putting it on here) me , my son and DH were all tested. It took about 2 years to hear and we were told they are carrying on testing so weay get another diagnosis. The diagnosis he got accounts for his severe SEN

Yes he’s in the 100k genomes study. Over the last year they’ve run him against panels for the different conditions he has and no match yet. Apparently there’s one more thing to check for the vision diagnosis he has but the other panels turned up nothing. They tested me and DH too but we haven’t heard anything on ours so hoping they’re done and no news is good news, as it has been over 3 years now.

I’m really glad they were able to give you an answer at least. I think my biggest fear is that he’s got something that is progressive or life limiting, but even if they identify something new they won’t know what it means unless they identify others. I suppose at least it might help to give answers to others if they do find something and then track him.

@Krazynights34

Yes. My DD. She has a “working diagnosis” but really doesn’t present like any one else medical experts have seen with her symptoms. We also have no results from the 100,000 Genomes Project (yet). She’s 3 now. The strangest thing to me about her is how she develops as if she were just about a year and a half behind her age but also has very little muscle.

It’s so difficult isn’t it? DT2’s development regressed pretty much overnight dramatically when he was about 18 months old and he was stuck at the same level for a long time. He is making progress now but not equivalent to a typical child of any age really.

Sorry got cut short - was going to add I’ve always tried to take the approach that the diagnosis doesn’t matter unless there’s a corresponding treatment (though of course I’m terrified she’d have a degenerative condition).
It’s hard.
I try to act as if one day she will be able to talk etc.

Passing these blog links on in case they are interesting to you; a before and after diagnosis.

niederfamily.blogspot.com/2011/08/life-undiagnosed-and-how-ive-come-to-be.html

and later
niederfamily.blogspot.com/2018/01/diagnosed-again.html

And this one too

niederfamily.blogspot.com/2017/06/diagnosed.html

Hope you get some answers
One of my baby grandsons ( one twin) has a rare genetic condition and it took a year of tests to be sent overseas from where they live in the Far East, I think to USA, before a positive diagnosis was made
It’s Mowat Wilson Syndrome
I think my son and daughter in law are coping better now they have a name for his disabilities and can get support from the MW network

Thank you for the links, will have a read.

Yes, if they diagnose him with something brand new or very rare then it’s not going to make any difference to us, but hopefully may help others one day. I’m long past expecting any treatment for anything to be honest.

I think DT2 will talk - he at least makes a wide range of sounds and sometimes uses the right sounds (eg muh for more or saying up), but he tends to do this for a while and then stop doing it. Not sure DT1 will ever talk but am sure he can learn to communicate well with a device if not, also has hyperlexia so hoping he can learn to read and write.

I think the not knowing is worse than any information to be honest - at least when you know something you can tackle it and cope with it.

Hugs to you all

@Knittingnanny

Hope you get some answers One of my baby grandsons ( one twin) has a rare genetic condition and it took a year of tests to be sent overseas from where they live in the Far East, I think to USA, before a positive diagnosis was made It’s Mowat Wilson Syndrome I think my son and daughter in law are coping better now they have a name for his disabilities and can get support from the MW network

Thank you. I don’t think it’s anything that’s known or they would have found it in the tests by now - unless it’s something that only a couple of other people have or something and they have to research to find the link.

Genetics is so fascinating, but the idea of it being something currently unknown is quite overwhelming. I am of course happy that they are continuing to investigate after everything they’ve already done.

My daughter has an incredibly rare genetic condition- the only study ever done on it only included 19 people, and the only other family we've found with a child with the same condition lives on the other side of the world! She also has another less rare genetic condition, and the geneticists think she is the only known case ever of having both conditions! We knew there were problems right from the 12 week scan, but didnt get a diagnosis for 18 months.

My dd has a condition they are sure is genetic but despite her being on every genetic panel they have nothing has ever shown up. Just have to get on with it.

Well our kids are certainly pretty unique that’s for sure! So glad you got some answers and found someone else with the same - it makes so much difference to have someone who understands.

We had no idea anything was wrong until DT2 stopped moving and I had an early EMCS - our neonatal unit were amazing and picked up the rare endocrine condition super quickly (super lucky he was already in NICU). Speaking to other parents helped so much. After that once he was medicated for it we thought everything was fine until 18 months - he was developing well until the regression, we had no idea he had a visual impairment etc. So it’s all been a rollercoaster really. It’s been a really stressful few years with lots of tests and sorting out EHCPs and schools. Hoping there are no more surprises in the next few years to be honest!

One of my cousins has a rare syndrome whose name I can't now remember - he was diagnosed as an adult within the last decade. He has moderate learning difficulties (physical and intellectual), went to a SEN school, can walk and talk but not read or write (to give an idea of the range of disability). The family had been working with 'brain damage around birth' for a long time, and I don't think the diagnosis has made any difference to how he is supported; he doesn't receive 'treatment' as such anyway. So while it's been good for the family to know, it hasn't made a huge difference to their lives.

DS2 has a rare chromosome disorder and is in the 10k genome project. His doesn’t have a name but there are a couple of studies I could read. I’m glad I didn’t read them when he was a baby because the range of difficulties is so wide.

DS2 is complicated by being premature and having bleeds on the brain which led to hydrocephalus. All his struggles could be attributed to that, but some things just didn’t hang together for me. I pushed and pushed, which was easier because already under a consultant at GOSH, and he agreed to a referral to a geneticist to placate me I think.

Nothing changed for DS with the diagnosis but one thing was that some people with this chromosome deletion have heart problems so we were able to get his heart checked and everything was fine there.

I like to know what we’re facing so I know we’ve done everything we can to help him, to prevent problems and give him the best chance of overcoming what is in his power to overcome. A diagnosis of a rare chromosome disorder can throw up a lot more questions than answers, but doctors are discovering new things every day.

DS sounds like a similar pathway to your child - Doctors were convinced from birth that he had something genetic but tested negative in every panel and for every specific test they did. He has been in two clinical studies which look at the whole dna make up - one exome sequencing and one genome sequencing (iirc). The first study was DDD, which after 4 years found nothing - although they would only report on known causes of development delay.

He was then entered into the 100000 Genome study, and after 2 years we got a diagnosis (at age 8)! His particular genetic condition had only been discovered and named in 2015, so wasn't known during the first study. At the time of diagnosis there were only 25 cases worldwide, although that is rising as more children and undiagnosed adults are entered into genome sequencing.

I would say go for every study they offer - genetics is an emerging field and just because they don't know now doesn't mean they won't know in a few years time.

Of course knowing what it is doesn't offer any treatment - but we know what to look out for as he grows up, he has a name for his condition(which is certainly useful as he gets older), and we have made contact with other families across the world which is a great support / sounding board.

@Anselve

DS2 has a rare chromosome disorder and is in the 10k genome project. His doesn’t have a name but there are a couple of studies I could read. I’m glad I didn’t read them when he was a baby because the range of difficulties is so wide.

DS2 is complicated by being premature and having bleeds on the brain which led to hydrocephalus. All his struggles could be attributed to that, but some things just didn’t hang together for me. I pushed and pushed, which was easier because already under a consultant at GOSH, and he agreed to a referral to a geneticist to placate me I think.

Nothing changed for DS with the diagnosis but one thing was that some people with this chromosome deletion have heart problems so we were able to get his heart checked and everything was fine there.

I like to know what we’re facing so I know we’ve done everything we can to help him, to prevent problems and give him the best chance of overcoming what is in his power to overcome. A diagnosis of a rare chromosome disorder can throw up a lot more questions than answers, but doctors are discovering new things every day.

Thank you - this is the sort of thing I mean. If an established disorder / syndrome is diagnosed and others with that have specific medical issues then at least you know what to check for or what monitoring is needed. Given the range of issues he has it’s very possible there are other things or risk factors we don’t know about which concerns me.

@Duckyneedsaclean

DS sounds like a similar pathway to your child - Doctors were convinced from birth that he had something genetic but tested negative in every panel and for every specific test they did. He has been in two clinical studies which look at the whole dna make up - one exome sequencing and one genome sequencing (iirc). The first study was DDD, which after 4 years found nothing - although they would only report on known causes of development delay.

He was then entered into the 100000 Genome study, and after 2 years we got a diagnosis (at age 8)! His particular genetic condition had only been discovered and named in 2015, so wasn't known during the first study. At the time of diagnosis there were only 25 cases worldwide, although that is rising as more children and undiagnosed adults are entered into genome sequencing.

I would say go for every study they offer - genetics is an emerging field and just because they don't know now doesn't mean they won't know in a few years time.

Of course knowing what it is doesn't offer any treatment - but we know what to look out for as he grows up, he has a name for his condition(which is certainly useful as he gets older), and we have made contact with other families across the world which is a great support / sounding board.

I’m so glad you got some answers and managed to connect with others. It’s brilliant how much work is going on in this area. Hopefully we can help others know more if it turns out to be something unknown.

I have read your posts on other threads Sinkgirl and your twins are very lucky to have you fighting their corner.

DS2 is 11 now and he has come a long way. He is at a fabulous SEN school with some detours along the way. We are always learning about him, but it is so much easier now than when he was little. I feel like we have all the information we need for him to live a happy life even though that might not be the straight, smooth path we might wish for him.

But it was that thoughtfulness and determination to find out everything we could that I read in your posts that put us in that position now.

Yes, us too. My dd, now 10, has a very rare syndrome, but clinical diagnosis only based on very clear signs and symptoms. We have and still are taking part in every study and test known, including the 100,000 genome project but as yet the affected gene just can’t be found. They know there are more gene mutations than they can currently identify and it’s most likely she has an undiscovered mutation belonging to the particular pathway and proteins known to cause her particular syndrome. On one hand knowing for definite would not change anything, but knowing could provide some answers or give clarity of potential future issues. In particular it has strong links to some cancers and seizures, so the uncertainty there is crippling. There is a support group in America, and a closed Facebook group, we have never met anyone with the same syndrome and none of the specialists she sees, with the exception of the geneticist has ever treated another child with it. It puts extra pressure on us to be the ones to pull everything together and be her advocate as a whole person rather than one set of symptoms related to one medical discipline. But, she is the lynchpin of our family and I adore her, and so do her sisters.

Hi I hope you all don't mind me jumping on this thread. I've name changed but been here a long time.

My daughter is under genetic testing, she's got a physical deformity and has multiple other emerging health problems. She's only just had her first bloods taken for genetics this month and I've been desperate to find parents to connect too.

To be honest I find it all terrifying and some days I want to scream What's wrong with my child? But I know it takes a long time. I see there is support groups for rare genetic disorders, but is there a place for parents like me, who have no idea if it is genetics, or just a pile of health problems?

DD isn't even two years old, more "problems" keep popping up and I'm constantly scared of what comes next.

My son is 26 and has a rare chromosome disorder identified through CGH array at age 13.
He was tested for all and sundry when small, then this died off, but every now and again I would find something and email the geneticist. They had bloods stored so they’d just send it off.
Once diagnosed, we knew to check heart and kidneys (which were fine). We also found a small group of families that had also been diagnosed. The children (and adults) have a lot of similarities but also are very different too and the numbers are growing and diagnosis can now be made pre-natally.

Their physical features are so alike it’s uncanny!