(Closed) Has anyone seen a genetic counselor?

posted 7 years ago in Babies
Post # 3
Member
1940 posts
Buzzing bee
  • Wedding: July 2010

I am not a genetic couselor, but I am familiar with genetic disorders. The biggest thing to remember is that you won’t know your level of risk until your husband’s tests are complete.  Generally, positive tests indicate the the probability of having a child with a specific disease is higher than the general population, not that they will necessarily have the disease.

Tay Sachs is an autosomal recessive genetic disoder.  Basically, that means that you have to obtain two genes (one from each parent) to have the active disease.  If you have just one copy of the gene, you are a carrier.  If you husband is a carrier for Tay Sachs, there is a 25% chance of having a child with Tay Sachs.  There are a number of things that can be done to make sure you don’t have a child with this disease (if he is actually a carrier), including preimplantation genetic diagnosis and prenatal diagnosis. 

Fragile X is an X-linked dominant.  Basically, this means that the gene affected is on the x chronmosome (females are XX and males are XY).  Because of it’s dominant inheritance, the child only needs one copy of the gene to have the disease.  However, in females, there can be “compensation” because of the xx status (only one of the x chromosomes is active in each cell).

I’m not very familiar with familial hyperinsulinemia.  I believe there are quite a few specific genetic changes that can cause this to occur. 

Definitely don’t get too worried until you find out the results and potentially talk to the genetic counselor.  There are a TON of variables!

Post # 5
Member
178 posts
Blushing bee
  • Wedding: April 2011

@hilsy85: I am a genetic counsellor in Canada.  I don’t have time to respond at the moment (at work) and can’t provide specific advice, but I can answer some basic questions if you PM me.

Post # 6
Member
3526 posts
Sugar bee
  • Wedding: August 2010

@hilsy85:

πŸ™ I can understand the fear & worry.

Crossing fingers & toes that your hubby is not a carrier.

Post # 8
Member
2538 posts
Sugar bee
  • Wedding: July 2010

@hilsy85: We went to one once I became pregnant with Wombat after losing Moose so late. It was scary because we had such a late loss and I was already pregnant again. The lady asked a lot of questions about our family medical history and had tests performed which i hadn’t already had. It wasn’t bad at all.

Post # 9
Member
152 posts
Blushing bee
  • Wedding: July 2009

“What do they do if it turns out that you’re both carriers?”

Genetic counsellors are essentially there to help put information about genetics, genetic disease, and genetic testing into laymans terms so that the patient can better understand their options and make an informed decision.

In your particular situation, if your husband is a carrier of Tay Sachs, then a genetic counsellor will help you understand the disease, the genetics behind it, and the risks associated with being carriers. They will explain each of your options with regards to having children, and they will be there for you and help you through the process when you decide to begin your own family.  

Essentially, they are there to provide information and support πŸ™‚

 

Post # 11
Member
3871 posts
Honey bee
  • Wedding: November 1999

I haven’t seen a genetic counselor but I think I want to.  My husband has severe asthma, he has life threatening asthma attacks. It’s scary.  Now I’m fine with taking care of my child no matter what but I want to know what the risk of our child getting his severe form of asthma. I know asthma can be hereditary but I want to know about the severe form of it.  My husband on the other doesn’t want to know.  I’m a worrier and a planner so I would like to have time to plan around the possibilities.

Well, let us know how your session goes. 

Crossing my fingers for you.

Post # 12
Member
1332 posts
Bumble bee
  • Wedding: December 2016

My fiance & I went to see a genetic counselor when I was pregnant with our daughter almost 3 years ago.  She filled out a family tree for each of us and wrote down specific diseases/conditions that appeared in our relatives.  I had to have an amniocentesis where they checked for sickle cell anemia & tons of other genetic disorders, but luckily she came back negative for all those.  Good luck, and I hope things turn out well for you both!

Post # 14
Member
3871 posts
Honey bee
  • Wedding: November 1999

@hilsy85: Oh, that’s good to know insurance covers it. I’ll need to check with my insurance but I always thought this kind of stuff wouldn’t be covered.  Have you started TTC yet?  Did you have to ask your ob/gyn about it?  I wouldn’t even know where to start with finding one.

Post # 16
Member
3871 posts
Honey bee
  • Wedding: November 1999

@hilsy85: Oh, ok.  My husband and I are planning to start TTC at the end of the summer and I still need to go see my Ob/gyn for a pre-conception appointment.  I’ll bring it up with her and maybe she can refer some counselors. Thanks!!

The topic ‘Has anyone seen a genetic counselor?’ is closed to new replies.

Find Amazing Vendors