Mental retardation

Dasweetestthing

Hi I was told today by my genetics counselor that the results from my amniosentesis came back positive for mental retardation. This is my first child and it's so devastating to hear. I don't know what to do except cry. Has anyone ever received a false result from an amniosentesis?

ToastieSimons

I am sorry you got difficult news. Is there a specific syndrome that it came back for? There are a million causes of intellectual disability on lots of chromosomes so I am not sure how an amino could test for it. Aminos can't give false positives, they test chromosomes. It may not be detailed enough to find specific syndromes and then you would do a more detailed test like a microarray, targeted analysis or genome sequencing, etc. My boys have an x linked intellectual disability. Despite having an identical mutation that are affected to very different degrees.

Dasweetestthing

She said that their was only one copy of chromosome 5 and chromosome 10 had an extra piece on it. I will get the paper results Friday.

Dasweetestthing

I guess I'm just trying to hold on to hope that the test is wrong. I have a special needs sibling and I have 4 others that have had children without disabilities or special needs. I want to do a second amnio.

ToastieSimons

ToastieSimons said:

I am sorry you got difficult news. Is there a specific syndrome that it came back for? There are a million causes of intellectual disability on lots of chromosomes so I am not sure how an amino could test for it. My boys have an x linked intellectual disability. Despite having an identical mutation that are affected to very different degrees.

Dasweetestthing said:

She said that their was only one copy of chromosome 5 and chromosome 10 had an extra piece on it. I will get the paper results Friday.

An amnio (autocorrect keeps changing it to amino) is about 99% positive. Your other option would be have a more detailed test done to look at what is missing. Did the geneticist give you information about the side effects of these chromosomal issues? Not all chromosomal issues cause intellectual disability. Our geneticist said that most people have between 2 and 6 errors in their DNA and they're non disease causing. I am only a carrier for my sons' mutation. I also have another chromosomal issue hat causes bone problems and does not affect cognition. Try to remain calm, getting any diagnosis is very difficult. I've been through it many times. If you need anything, this in amazing board filled with support I never knew existed.

Dasweetestthing

Part or one of chromosome 5 is missing. She said the effects are speech delay, learning disabilities, abnormal facial features and something about the bone.

kcisthebombdotcom

Dasweetestthing said:

Part or one of chromosome 5 is missing. She said the effects are speech delay, learning disabilities, abnormal facial features and something about the bone.

The thing is that doesn't guarantee a prognosis of mental retardation. I went through genetic testing with my dd and the geneticist said there was a chance that I had the same issue my child has. I'm a college educated person and was a straight a student and there is a possibility I have a missing chromosome. She said if you tested the whole population you'd likely diagnose many with chromosome abnormalities that are typically functioning that never had a reason to be tested. The prognosis is very variable. Yes, it's good to know that there is a issue so you can be vigilant and get help early. A missing chromosome does not mean intellectual disability 100% of the time.

Assembly_Reqd

Nate is missing three parts of chromsome 1. Our CVS did not catch the deletions. The only reason I wish I had the news sooner is that the shock of his issues at birth ruined what shoud have been a fun exciting time. Now I just think it gave me PTSD. He will be diagnosed with a Learning Disability. I beleive his intelligence is at least average and maybe a bit better than average. All the research we did regarding his deletions was kinda depressing. Thing is, he is not the child described. Sure he has issues, but I have been able to cross a lot of stuff off the list of things he 'should' have. He has had a profound affect on my life in a good way........ Hugs. I know how shocking and sad this news is. We are here if you need us.

Dasweetestthing

She did use the words "mentally retarded". I want to ask her specific questions tomorrow and also seek another geneticist. She's way too cold. She's not empathetic at all. She doesn't offer options. She just gave me my results like a butcher.

Dasweetestthing

Ur comment made me feel better. And does the other comments. My geneticist is giving me the impression that my child will be a loss case.

Dasweetestthing

I did do my research and yes it is depressing. When I look at chromosome 5 and 10 disorders they make me scared. I hope my child is not the worst case scenario. Thanks again ladies. All ur kind words are greatly appreciated.

Dasweetestthing

When I got tested my chromosome 5 is broken off and connected to 10 but I have both pairs of 5

ToastieSimons

Dasweetestthing said:

Ur comment made me feel better. And does the other comments. My geneticist is giving me the impression that my child will be a loss case.

I'm sorry that you have a geneticist with a poor bedside manner.  However, I'm going to warn you, this is common.  I find geneticists to be very black and white.  My DS2 had a 50/50 chance of receiving my bad x-chromosome.  I was instructed that it would be very beneficial to terminate my pregnancy (I was 8 weeks along) and to start over with IVF.  Well, genetically I guess that is the responsible thing, however, it wasn't morally right for us.  When we expressed that, it was dropped.  

Are you considering terminating your pregnancy?  Or is this just knowledge that you needed to seek to be prepared for delivery day?  

No matter what genetics results you receive, they're simply a DNA map.  There is no predictor of how your child will be affected.  My older son had to spend 9 days in the NICU because he is so affected.  DS2 got to come straight home from the hospital.  DS1 had an uncoordinated suck/swallow why DS2 eats like a champ. DS1 is severely hypertonic, while DS2 is mildly.  Is your geneticist through an MFM or did you got to a geneticist?  You may be better off finding a free standing geneticists through a children's hospital to guide you.

Remember, a geneticist at a MFM office usually doesn't see babies once they're delivered.  This stuff is all in utero detection, not real life follow up.  If you go to a geneticist at a children's hospital they're have more knowledge of how a child is affected realistically, not just in a text book because they've examined and actually seen these kids that are affected.

Dasweetestthing

My geneticist is thru my midwife. I will look for a free standing one. I don't know what I'm doing right now. I don't want to term if my child has a chance of living a "normal" life. If he's just a slow learner I can handle that. But if he's going to be stuck in a wheelchair not able to do anything or learn anything I wouldn't want to put him myself or my husband thru that.

kcisthebombdotcom

Dasweetestthing said:

My geneticist is thru my midwife. I will look for a free standing one. I don't know what I'm doing right now. I don't want to term if my child has a chance of living a "normal" life. If he's just a slow learner I can handle that. But if he's going to be stuck in a wheelchair not able to do anything or learn anything I wouldn't want to put him myself or my husband thru that.

My geneticist gave me the link to this site and I found it helpful. If you look into chromosome five there's a wide range of outcomes. I hope this is helpful for you in making a difficult decision. Best wishes to you and your family. https://www.rarechromo.org/forum/disordersleaflets.asp

ToastieSimons

Dasweetestthing said:

My geneticist is thru my midwife. I will look for a free standing one. I don't know what I'm doing right now. I don't want to term if my child has a chance of living a "normal" life. If he's just a slow learner I can handle that. But if he's going to be stuck in a wheelchair not able to do anything or learn anything I wouldn't want to put him myself or my husband thru that.

The easiest way is to find a local children's hospital and call their genetics office.  They may be the most helpful.  Or ask your family doctor who they would recommend.  

Dasweetestthing

Ok so I just scheduled an appointment with a geneticist that also specialize in children and I'm trying to schedule an appt with a third. I just want all the info I can get.

Dasweetestthing

I will thank u

southernbelle79

Just take a deep breath and think about the many blessings this child will bring despite any disabilities. My 11yo daughter is intellectually disabled/mentally retarded and she is amazing! She is so sweet and everybody loves her! I wouldn't change a single thing!