Had results for genetic testing for DS so it's not 22q deletion. Relieved but....

[genieinabottle]

I can't stop thinking about what the geneticist has said. "...We could test again in a few years because genetics is a fast moving field and we could find out something later..."
She also said there is a lot of children out there like DS, with several varied symptoms, ASD, some delays, some minor congenital anomalies,...ect, for whom we can't at present find a genetic cause although genetics is very likely involved. (well word similar to this...)

so do we want this? Do i really want to find out why DS has ASD, a VPI, mild epilepsy,... It won't really change anything will it? DS will be the same with the same issues, whether they can tell us it's this chromosome or that one.

Any thoughts on this ladies. Some of you must be/have been in this situation.

Thanks for reading my little ramble

It is not related to knowing why UR Ds had asd in the first place. It is more with knowing that yes, if there is a genetic mutation then their might be an associated treatment for it. Most of this treatment research is in US, none in uk. I m heavily into biomed....hence posted

Yes, Zumbaleena i see what you are saying, but for me as his mum it is mainly to know the why, that is what is the cause of all his problems.
Also if it is a genetic issue i can't think how they could change that. They cannot fix this can they? (Pardon my ignorance i'm really not into all this)
As for treatment, well we do know already where his problems are and doing ours best to help him.

Not trying to argue or anything just giving my thoughts at the moment.

U r right dear! Genes cannot be changed but knowing what mutation he has, u may want to know what treatment options he has genetically as genetics is truly a fast moving field. On a more personal/emotional note, yes I would hv wanted to find out to give closure to the problem and being more scientific in nature.....would hv found solace in knowing why my baby is like what he is

Thanks for your reply.
Yes absolutely a part of me wants to be able to know more about this, and yet another part doesn't want to know maybe because it scares me slightly, or maybe because i simply don't want to deal with yet another 'label' for DS.

I found it hard to accept his ASD diagnosis even though i deep down knew and even wanted a dx for him because i thought it would help with support at school,...ect

Stuck between a rock and hard place as they say...

Our Ds has a rare condition. It was an enormous relief to me to discover it was genetic as we could not be blamed or blame ourselves. They don't yet know much about it, but idc we will want to know for him as one would nor want his dcs to have to go through it.

A friend has a dc with severe sen. She was made so much happier recently when discoveries were made about the dc's condition and she realised it was genetic not hospital failure at birth, but also there were issues for her other dcs to be aware of.

It depends on you. A wise friend said to me not to go looking for diagnoses, because one places too much hope on them. So we didn't and don't, but occasionally try to catch up.

Interesting post from whistler and I know what u mean genie....it is tough and my deepest affection for you

it is suspected that ds has a rare genetic condition, he is part of a study into the condition, because he tested negative with the initial tests, but still has a lot of the attributes associated with the condition. His DNA is also included in a long term study which means that if it turns out he doesn't have this particular syndrome, he will be tested for new syndromes as and when they come up. (There is a similar study in this country called the DDD study)

Ds now has in his notes that he has a possible diagnosis, which on a practical level is proving helpful, as we are applying for a statement, and even a possible diagnosis seems to carry more weight than developmental delay! It also meant that he has had some medical checkups because of problems associated with the disorder, and in the case of the cardiologist this has shown that he does have a minor heart defect, which needs to be monitored.

On a personal note, it feels very important, but I am not sure if I can put my finger on why. I have felt like we have been flailing around in the dark for the last 2 years, and being given this possible diagnosis felt (as another very lovely and wise mumsnetter put it!) like being handed a torch in the darkness.

I have also found it helpful to be part of the facebook group for parents of children with the condition, who have been very helpful and supportive.

Have you heard of a group called SWAN UK? (syndromes without a name) they have a very active facebook page for parents of children who it is suspected have a genetic condition, but have yet to find which one! SWANuk

Thank you for your post Hazeyjane.
I will go and check this SWANuk website.