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Genetic tests

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We had a few concerns that our AS3 was small for his age (0.4 percentile). Our GP referred him to a paediatrician and when she saw him she has suggested doing some genetics tests. I'm assuming she thinks he may have some sort of genetic disease/syndrome to do this on the first visit? I have suspicions as to which one but surely this should have been picked up on by the placing authority? Blood tests were taken so now it's the waiting game. Anyone else been through this?


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They don't routinely screen children for genetic issues unless they know birth parents have it or carry it. And even then no guaranteed they would screen,


Sometimes genetic testing is also to rule out conditions. My AD had them age 2 to help diagnose FASD. Once they eliminated other genetic causes for her issues they were able to diagnose it


Have they mentioned fasd? Very prevalent in adoption and very small for age is often a symptom (not saying that it is but wondered if it had been mention). Genetic tests are used in this case to rule out other conditions and build evidence towards diagnosis.


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The doctor didn't mention FASD but we are very aware of the possibility he may have it. She asked about alcohol use during pregnancy but we can't be sure BM didn't drink. He does have a few other physical characteristics that match a different diagnosis and so far behaviourally we don't have too many issues. His sibling is also placed with us and similarly no concerns for FASD with them either. Doctor is doing the genetics tests based on some physical differences with hands and feet. Just a surprise as we thought he might just be small and need checks on hormone levels. Obviously we were being naive.


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It's really difficult facing the unexpected. but hopefully the paediatrician can get you some answers soon


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What Tea Addict said. My daughter is currently waiting to see a geneticist following a referral from paeds. Pretty much for the same reasons as tea addict outlines, ie to rule out/in any chromosomal issues before looking at fasd. She does already have a dx of ASD already.


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Thanks Donatella. It makes sense to look at all possible causes and eliminate things too. Hope your daughter gets seen quickly.


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Genetic testing results take a long while so expect initial results to be at least 3months.

The blood tests are done routinely on children with developmental issues, uncertain backgrounds etc and many other reasons. In the case of small stature the tests would be run alongside general medical investigation to exclude dietary issues, growth hormone issues etc and to establish if simply small as birth parents small.

The tests look at chromosomes - establishing if all 23 pairs are present. They then look at each chromosome and view the genes - it's possible for some genes to have duplications, parts missing, etc. Genetic studies are still relatively new so scientists don't fully understand the significance of all "changes or abnormalities". Some changes however are known to cause syndromes, or increase the risk of various health/development issues. Often the results can come back as "normal". In

These cases some children are entered into the 100,000 genome study. (They go much deeper into the genes and hunt more for issues).

Your paediatrician should have explained to you why they feel the tests necessary - they sometimes feel a child has dysmorphic features or physical characteristics that suggest certain syndromes to them. It doesn't mean your child has the syndrome they suspect but bloods provide answers and generally parents like answers!

My adopted child has genetic changes of unknown significance - they have some physical health issues but the changes on the genes aren't known to cause them. So deeper genetic studies are being done. Results will be 8-12 months. Sometimes it's a case of knowing changes are present but unless the birth parents can be tested you can't be sure how your child will be affected. For example, if the child's parent has the same changes but functions as an independent adult it reassures you ! Often birth parents refuse testing. Also some changes can be recessive genes which can bring up more worrying consequences. So in conclusion genetic testing is still an emerging area of science, it can bring answers but often just more questions. That's when the genetic consultants and counsellors can support and advise. But at the end of the day, your child's genetic make up can't be changed and they will be who they are Smile

My child had some bloods done, parents refused and the decision to delve deeper was left for the adoptive parents to decide! I suspect for SWs having a child to place with a "might have or might not have syndrome" is easier for them than "definitely has syndrome".


Good luck x


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My son has been referred to Genetics three times (also v small, global developmental delay and had undescended testes). He has a biological 'double' cousin who has also been adopted I believe and they were able to identify a chromosomal abnormality for him but my son does not share it. The last consultant we saw thought that there probably is a genetic explanation for his condition but we don't have the answer yet ...


We are now under Endocrinology and it appears that he is growth hormone deficient.


When I was being approved I said that I didn't think I could cope with a child with significant health concerns. I think the information I got from the placing authority was accurate at the time but I was expecting learning problems rather than physical health issues.


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Our LO is on the ASD pathway and they wanted to do genetic testing. She has huge social anxiety and is touch sensitive - basically this would be her worst nightmare. I asked if the outcome would change the support she got and they said it wouldn't and it was more for information only. Based on this I didn't let them take the blood but after reading your comments I don't know whether I made a mistake....


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Thanks Mummydream , very useful information and thanks Daydreamer too. Any results won't change anything anyway as he is our child and we love him.


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We have 2 - eldest was tested at about 4 for a specific syndrome as she had some of the facial features - she tested negative - but at least we knew one way or the other. The second was similar to Daydreamer - he is under endocrinology and has a rare syndrome which they have yet to identify - he has been tested for chromosomal Karyotype for gender which came back as normal male and has now been referred to the 100,000 Genome project - my understanding is that this is not just for research but they may be able to identify something which could benefit his treatment too as it would clarify which aspects are linked to his syndrome. Personally I would take the tests - it will give you more information one way or the other.


Blueberry 1 - my understanding is that genetic testing cannot identify ASD but can rule out other conditions which may present in a similar way.


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They don't use a blood test to determine ASD so I wonder if they're considering other things blueberry? Two of mine are ASD but they were assessed via different professionals. No blood test.


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Mine had genetic testing and came back with a chromosome deletion which is related to learning disabilities. I have girls. One is much more affected than the other. I have been told that boys would be more likely to be affected.


I managed to get their birth mother tested and she is clear. She has other children and they are fine. She has a mld but otherwise her family background is pretty decent.


Birth father on the other hand comes from a terrible background going back generations. He hasn't been tested but we suspect that the gene deletion is from his side and that it has caused his family members problems over the years which contributed to them making poor choices.


Our girls have the gene deletion but are living with me and my husband where they are being parented in very different ways from their birth father and his family. They live in a different sort of area too, with lots of support services which I have been resourceful enough to access.


All of this can make a difference to the outcomes regardless of what genetic testing shows up.


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