16 month old - suspected neurological syndrome

[Ally432]

Hi,

I’ve always used this site as a haven for advice but never actually posted until now.

I’ve found myself searching for people in a similar situation I find myself in with my son, without much luck and will do anything to help try and not feel so alone!

My son is 16 months old and has had various health issues on and off his whole life (born with one kidney, urine infection and sepsis early on, reflux, multiple food allergies, gut issues, poor weight gain (85th to 2nd centile) to name a few) , but it’s always been brushed off as another unlucky thing he’s had to deal with and nothing to worry about overall. But my gut from day one has told me something wasn’t right.

Since turning one it’s all come to a bit of a head as he’s not hitting developmental milestones (in all areas) and issues were becoming more apparent. I also have two daughters (6 and 4) so it’s hard not to compare.

At 14 months he was diagnosed with hypermobility and low muscle tone (on the severe side) and has been responding really well to physio since then (and just started crawling). But they also flagged we could be dealing with some sort of syndrome. But we’d just have to wait and see.

This was incredibly hard to hear and the whole ‘wait and see’ was challenging.

Then two weeks ago he had an unexplained seizure out of nowhere, which was literally terrifying. Again, initially it was brushed off as a febrile convulsion despite him having no temperature at any stage (this I’ve since been told absolutely was not the case). The seizure alongside a rough week of illness for him led to an emergency CT scan and ECG. Which thank goodness all came back clear.

He’s since had an EEG (waiting for results) and saw a paediatric neurologist. He confirmed he has a 6-8 month developmental delay and that alongside the seizure and one kidney all point to a neurological syndrome (possibly metabolic). Next week he’ll go under general anesthetic and have an MRI, lumber puncture, genetic blood testing and also an EMG (he doesn’t have reflexes in his legs).

They’ve said after a week or so we should have all but the genetic tests back so will possibly have an idea of what’s going on. But the final genetic results will be 6-8 weeks.

So now we’re in this limbo of knowing somethings wrong, but not knowing what and what the severity is and in constant fear of more seizures. It just feels so terrifying and so lonely.

I guess I’m just wondering if anyone else has been in this situation and what their outcome was? Or just to know we’re not alone (not that I wish this one anyone else).

My son is absolutely perfect in every way and we couldn’t love him more. We just feel so terrified about what’s coming next and what it means for him and his future.

💕

My granddaughter has just been born with a significant deformity and some very telling signs. I recognise a fairly uncommon syndrome.
We are all completely terrified for her and for the future.
Your son is so lucky to have you. He may well outgrow most things. I hope so x x

I'm so sorry to hear that @Feelthefearagain. Such a worrying time for you all and I do hope you get some answers soon.

And thank you, we had the initial results which were all clear, and ruled out Duchenne's which was everyones big concern. So a big relief but still all very unknown and waiting for the genetic results in a few weeks.

Keeping everything crossed for us all xxx

Not your situation exactly; DD had a string of conditions diagnosed over the years. She had her whole genome sequenced and we’ve been told that she has a metabolic disorder. However, so few people in the world are symptomatic with it; they don’t know the full range of presentations. She doesn’t have the most typical conditions, it’s known to cause. They don’t know if the two recessive gene variants have caused all the problems; or if she coincidentally has other gene variants. They have taken more blood to look at other genes, which are known to cause some of the conditions.

DD is the first person the professor has met, who has this symptomatic presentation. I have contacted a charity in the field (epilepsy) and they didn’t know anything about it; or come across a child/young person with it.

I have now contacted The Epilepsy Foundation in the US, to see if they know anything about it, under the umbrella of rare epilepsies.

I have only found two research papers, who each describe one person with it - so two in total.

Hopefully OP, DC might fall into a metabolic disorder, where there is a support group; but beware it could be one, where there isn’t much known about it?

Thanks so much for your message and I'm sorry you've been going through all the uncertainty too.

Since writing this message we have had his genetic results back and he has a rare chromosomal disorder called 16p11.2 microdeletion. It literally answers all of his issues, every single one of them. It's very rare but there is a wonderful charity called Unique who has some info. But similarly no doctors or anyone has ever come across a case of it. It was only discovered in 2007.

For us, we've found having a diagnosis has made things a lot easier. To be able to understand and work with what we know (even though that's so little) and have a plan for therapies and supporting him from an early age. I really hope the same applies to you, if not now at some point.

Some days are scary as it's all so unknown but hopefully these things are more researched in the future and our kids will benefit from that.

Best of luck with it all. xx

I was recommended to look at this website

ncats.nih.gov/

Gard - Genetic and Rare Diseases Center. It’s in the US, but that doesn’t matter! There is also The Rare Portal on Global Genes, which is a virtual room for chats.

Sorry, wrong link! Should be

ncats.nih.gov/gard

Thanks so much - I will look both of them up!

Ally, was the deletion picked up on a micro array or more ‘detailed’ genetic test? We have had the first, not the second… I have to admit I don’t really understand the extent to which a micro array would pick up anything significant..?

Iirc, a microarray is looking at deletions or additions to the chromosomes? DD’s showed nothing abnormal, where full genome sequencing found a rare genetic disease due to both copies of a gene, having the same recessive mutation, inherited from each of us.

thank you… was it recommended that they follow up with the genome sequencing? Did you have to push or was this instigated by the paediatrician?

DS (epilepsy and asd traits, severe speech dyspraxia) was referred for a micro array 3 years ago which was normal. His development hasn’t improved and so we saw a neurologist privately recently who suggested ‘higher level’ testing which I suppose is this. NHS never though suggested it, never said any more after giving us the results of the micro array which makes me think I’m going to struggle to get them to do it on the NHS…

in fact he has no NHS neurologist, just a epilepsy consultant (a general paediatrician with an interest in epilepsy.)

DD was referred to the 100,000 Genome project by her consultant neurologist. They sequenced her genome. There are 3 billion letters to look at, so in her case, they were looking for gene variants (aka mutations), known to cause epilepsy. I don’t think they look at every single gene. DD has an inherited metabolic disorder, which occasionally causes seizures.

A GP cannot refer for genetic testing, without advice from secondary care/a consultant asking them to refer.

I read an article in the Guardian today, saying 100,000 babies are going to have their genome sequenced to see if it saves the NHS money in the long run, by detecting rare genetic diseases early on?

Next time, you see DS’s epilepsy consultant, I suggest you ask them for genetic testing; and/or metabolic testing.

It is not my place to diagnose your DC; but DD’s metabolic disease can cause the symptoms you describe in DS - seizures, speech problems and ASD. In total, it can have 115 symptoms, although DD only has about 10 of them.

Thank you again. Weirdly the Consultant said she could say it definitely wasn’t metabolic but who knows?

yes I can try the epilepsy consultant route. DS has never been referred to a pure neurologist. I wonder if it’s different in different parts of the country? Or if he would have to have somehow presented differently to be referred to a neurologist under the nhs.

How is DD now, does she have many day to day challenges if that’s the right word? Has there been anything different/ specific you have been able to do as a direct result of knowing this info? If not do you feel it has gained you anything?

I’ll ask no more questions now 🤣🤣

DD only sees consultant neurologists, specialists in epilepsy - she needs people, up to date with the latest research and access to the drugs, only available through tertiary centres. Consultant neurologists, who are generalists, are not specialist enough for her.

Yes, we knew she had a congenital brain abnormality. Four years ago, her adult consultant thought she had a metabolic disorder. He wrote to the paediatric department, she used to be under, to ask what metabolic testing had been done? The head of the department wrote back, that DD’s epilepsy was caused by the congenital brain abnormality! Her adult consultant dropped the idea of a metabolic disorder.

As I said above, by chance she was referred for whole genome sequencing 6 years ago. They called us in, in October 22 to tell us, she has Hartnup disease, a metabolic disorder! The main triggers, which make it worse are physical stress (hunger, heat, cold, sudden changes in temperature, a temperature) and emotional stress. All of these trigger seizures. They believed she suffered cognitive deterioration due to poor nutrition (not at home) at a residential specialist school, and where she lives now; not seizures as everyone assumed.

Hartnup disease can cause seizures, as it does in her; and many neuropsychiatric symptoms such as depression, anxiety, confusions, delusions, hallucinations, ADD, psychosis, and emotional lability (volatility). It can also cause dysarthria (slurred speech), episodic ataxia, interpersonal difficulties (like autism), migraines, fainting, etc. She has many of the neuropsychiatric symptoms, which have been put down to “challenging behaviour”. Now we know, the number one trigger is poor diet!

The treatment is a high protein diet, and vitamin B supplements.

Gosh what a story!!! At least they got there in the end and she has appropriate treatment, how frustrating though to think it could have been earlier. Hope she continues to be healthy and well and thank you for sharing your story.