Anyone have a child with a metabolic disorder?

[Firsttimer7259]

Our daughter may have a metabolic disorder that is causing GDD. She's 21 months and about 6 months delayed. She seems quite absent sometimes, like her ability to focus is impaired. They are doing more tests (yet again). Id like to talk to someone who has experienced anything similar

Well, my ds was suspected and tested for a few, until we worked out that his progressive neuro damage was being caused by gluten.

Has your dd been OK before but is worsening? That's what was happening to my ds, wasn't quite GDD, but would have led to that eventually if we hadn't gone gluten-free.

There could be things you could try with or w/o diagnosis.

Hi,
My son has a suspected mitochondrial disorder or some kind of metabolism disorder as he has high lactate levels in his blood plasma and also in his spinal fluid so they think something is wrong with the energy production/transporation somewhere. They originally said he couldnt have it as they dont usually grow very well but because they tested his blood 3 times and the lactic acid kept increasing i think they had to take it more seriously.
He is almost 2 now and we have been in and out of hospital doing tests for the past year.
He struggles with his balance so cannot sit unaided for very long and cannot crawl or walk. He has developmental delay in all areas. He does seem to have fatigue sometimes and not much energy and doesnt eat a lot (no appetite). He also doesnt seem to learn much and looks a bit blank sometimes. Just seems like something is holding him back.
We currently have a professor looking at his mitochondrial dna to find out whats going on but it could take years to find out as they have checked for all the normal types and he doesnt have them. They have also now found an abnormality in his genetics test which we think could be linked to the whole mitochondrial/metabolic stuff. Have looked online and i think its called the inborn errors of metabolism.
We havent had a diagnosis yet, just waiting around as usual our blood is also being tested to see if there is a genetic link so think they will call us in when its all complete.
Hope ive helped you a little bit, these things can make you kind of lonely a bit cant they!! :)

Hi there
My son has a metabolic disorder. When he was nearly 12 months a consultant put two of his symptoms together (a white blood cell problem and hypotonia) and thought that he had a certain syndrome. A metabolic urine screen was done and it came back as positive for what the consultant thought it was. Ds had his DNA tested for the syndrome, but to everyone's surprise it came back as normal.

There are 3 other conditions associated with metabolic screen results and DNA and other testing has discounted all of them and so ds's diagnosis is classed as 'none of the above', but he still has an 'inborn error of metabolism'.

He is very nearly 3 years old and still can not walk independently. He can learn things quickly, but only if it does not involve muscles. He is bright and happy and has bucket loads of energy. He is on the go from the moment he wakes up until bedtime. He eats well and is huge for his age (off the charts for weight). It seems that in the last year a switch has been flicked and he has been going from strength to strength. His physiotherapist is amazed at his progress. We have a new private speech therapist and I am expecting big things with her help! He used to look quite blank every now and then, but I haven't seen that look for a while and then it is only when he is really tired.

This is a relatively new area of medicine and even the doctors do not know very much about it. I always thought that if they knew what they were testing for, they would be able to do something with the results and give you a definitive answer, but that is not always the case.

After 18 months testing has come to an end with ds. We are on an annual review with genetics, but we don't expect them to find anything. Ds is making good progress and not regressing, so we are just letting him get on with it.

Thank you for the replies. It really helps, I am so lost at the moment

Hi my dd five has one genetis metabolic disorder and is also being tested by our geneticist to check if there is another which could be causing her learning difficulties. It has been a long journey as just had MRI results and chromo results back.

i know from her other condition thought that CLIMB ( a charity for children living with inherited metabolic something or other sorry can never remember the last bit but should be google able! ) is helpful and have a helpline and medical info.

Hi. My husband lost a baby in his first marriage to a mitochondrial disorder and my stepdaughter also has it. She is 12 and was diagnosed just over two years ago. She has seizures, muscle weakness, increasingly poor balance, lack of energy and vision problems. She is a very poor eater and is in hospital right now having a feeding tube put in her stomach as her weight has got so low. She also tends to have very vacant moments but that could just be her! Her mother also died of the disease, after she and my husband were divorced.
Both the children were/are treated by the wonderful metabolic team at the Evelina Children's Hospital at St Thomas', London. There is also a national centre for mitochondrial disease at the Freeman Hospital in Newcastle.
CLIMB (Children Living with Inherited Metabolic Disease) is a wonderful organisation for those facing a diagnosis with these conditions. Genetics are taking huge strides forward in this area. My husband's son died in 2006 and it was impossible to work out exactly what was wrong with him. By 2008, they were able to sequence his ex-wife to discover the exact (very rare) genetic fault.
Do PM if I can be any more help. And I am sorry you're having to go through this. It's wretched. But the outcomes are so different for everyone and many people learn to live into adulthood with mitochondrial disease.

Hi again, thank you all for your replies

I wanted to ask a few questions:
nightcat how did you figure out the gluten intolerance?

For anyone else out there were your children physically ill before the delays were diagnosed? Also did they have any problems with eating or digestion?

I ahve had a look at climb but just find the amount of information overwhelming. I guess we need to weight for the test results (again).

hey, my son has never been ill really (suspected mito dysfunction) hes been really lucky, ive reasearched all these things online and some kids r quite ill arent they. He was really behind developmentally so we saw a paed aged 1 then a neurologist and started tests. DS doesnt eat a lot he just cries and winges when i try to feed him then when i actually get something in his mouth he spits it out. He used to have acid reflux and vomiting when he was really little too. he looses control of his eyes aswell sometimes too they look lazy and hes got terrible balance and hypotonia.
StiffyByng your comment was really helpful must have been really hard for your husband to have gone through all of that :( I think their specialised units are london, newcastle and oxford, we go to the oxford one :
www.mitochondrialncg.nhs.uk/index.html

Climb is a really good site too but figured id wait till the actual diagnonsis before i look at things further, but you cant help looking for answers yourself online can you! Hospitals can be slow at times. Ive been told it could take years to pinpoint exactly what is going on with his mito/metabolic stuff :(