Genetic Testing Question

#1_BadgeBunny

Im not new to TB but new to this board.  Im not even sure i belong but i felt this would be the best place to get some answers. 

 We found out DS has hemohypotrophy and has to go for genetic testing and abdomen ultra sounds i guess to see if he has any of the other syndroms associated with hemihypotrophy such as Beckwith-Wiedemann Syndrome or Wilms' Tumor.  We were refered to genetics for the rest of our testing. 

 My question is that Dh 95% sure will not be able to get out of work for the genetics appointment. We might have a lot of appointments going forward and our doc is out of state so we are trying to limit DH missing work.  Dh will be there when we get DS abdomen U/S incase they find something, bc i WILL NOT be able to do that alone!  DH also says he doesnt think he needs to be at the genetic app.  what do you think?  should DH be there? 

If he doesnt come what types of questions will they ask so i can drill Dh ahead of time.  Is there some info online i can print out and have DH fill out so i have something to bring with me.  or are the questions asked on a syndrom base? 

Im sorry im so allllll over the place its all sorta happeneing way faster than we expected and im obvioulsy a nervous wreak! TIA!!!

duchess0727

Why don't you call and ask?  Our first genetics appt was just history and examination so if you can bring your H's history info, you won't need him there.  The actual blood draw for the testing was supposed to be done at a lab (Labcorp).  They had trouble drawing my DD's blood so we ended up doing it at the hospital but I took her by myself all 3 times.  It would have been nice to have H there for moral support but my work schedule is more flexible than his.  Good luck - everything related to genetics is overwhelming!

#1_BadgeBunny

I left a message with the doc earlier today.  hopefully i get a call back soon. Yeah Im a SAHM now so its no big deal for me to take him alone and its good to know he shouldnt have to be there. 

JOEBunny

DD had genetic testing and they just sent a long form for us to fill out.  I had to call my parents and inlaws and ask them for some of the stuff.  She had a blood draw at lab corp and didn't even cry.  DS had the same thing for different reason and it was the essentially the same process, though DD's was with endocrine and DS's was with GI.  After it was all said and done, we went back for a follow up.  There was nothing genetic, so it wasn't traumatic, but DH did go to that appointment with me.  Can you take a friend?  I took a friend to several appointments for DS and DD. 

#1_BadgeBunny

I think i will be ok going alone.... bc i will be dropping DD off with my mom.  Im just worried they will want to physically see Dh.  KWIM?

BUmama

I always go with the kids on my own. DH has a pretty high stress job and can't take off work for a lot of appts. He'll take off for big things if I need him too, but we often schedule those out months in advance. For the most part I'm not even sure he knows their medical history as well as I do, but he tries.

We do any blood work at a local hospital on the weekend so that DH can help restrain DD1 and then it gets sent out to the lab.

Genetics is usually pretty low stress. The last appt was the geneticist, a med student and a genetic counselor/lecturer at the dental school (DD has a specific dental birth defect). I answered questions posed by the counselor while the Dr did her observations and the med student took notes. Now we're waiting to see if the insurance will cover a microarray for further testing.

ToastieSimons

For our genetics appointment they didn't need to see the parents. I mean obviously we were there but they didn't examine us or anything.

They simply asked hair/eye/skin color, and asked about our heritages and any medical conditions that are on both sides. 

For ex: DH is white, brown hair, green eyes, 6'0 about 180 lbs he's of german/irish descent.  Father and paternal uncle both had kidney related disease.  His sister is typical no children.  Both maternal and paternal grandfather died before age 60 etc. 

Oh and they want to know if there is a history of any stillbirths or miscarriages.

They examined DS did a complete head to toe of all his symptoms. If you're child has any dysmorphic features (almond shaped eyes or single palmar crease are common dysmorphic features of down sydnrome) they may take pictures for reference. And then they drew blood. 

I'm sure if I had all the info they wouldn't have needed DH. 

Assembly_Reqd

They will basically also do a family tree type diagram and ask questions about the health of your siblings, DH's siblings, & both sets of parents. They will want to know if there were any major illnesses, diseases or other genetic dx's in your families. They will also want to know of any health issues you currently have (your short limb dx, migraines, etc, etc)

So I would call your MIL (hah!) and ask her these questions for DH's family. (Guys suck at knowing this stuff) For example, my aunt died at age 14 from lymphoma. I never met her, my dad was around 9 when she died. This is something I wouldn't have known off the top of my head.

Even though things may not seem important to the potential dx being investigated, it is best if your geneticist has a complete health picture of your family tree. You can always give DH a quick call or text if something comes up that you are unsure of.

Good Luck!

p.s. They may do the blood draw there or may send you to Quest. If I were hauling out of state, I would make them do the draw! If not, I can rec a good lady that we always take Nate to...

#1_BadgeBunny

thanks ladies this was very helpful i started a list it will give me somethign to bring so i dont have to be "on the spot" 

 ohhh and AR..... i LOVE your siggy!

jsugrin

I didn't see anyone else mention it but if you're looking at a lot of appointments that DH won't be able to attend I would really invest in a decent audio recorder and record your appointments.  Even taking great notes there are just things you miss, forget ect and in addition to the extra set of "ears" your DH will be able to stay more involved and really understand what is going on.

This looks like a pretty good one.

https://www.amazon.com/Sony-ICD-PX312-Digital-Flash-Recorder/dp/B004M8SSZK/ref=sr_1_3?ie=UTF8&qid=1316839124&sr=8-3

#1_BadgeBunny

jsugrin:

I didn't see anyone else mention it but if you're looking at a lot of appointments that DH won't be able to attend I would really invest in a decent audio recorder and record your appointments.  Even taking great notes there are just things you miss, forget ect and in addition to the extra set of "ears" your DH will be able to stay more involved and really understand what is going on.

This looks like a pretty good one.

https://www.amazon.com/Sony-ICD-PX312-Digital-Flash-Recorder/dp/B004M8SSZK/ref=sr_1_3?ie=UTF8&qid=1316839124&sr=8-3

what a great idea!!!! thank you! DH hates that he wont be there but depending on what direction this goes he might be missing a lot of work so he wants to stay in his bosses good graces right now especially since he is the sole provider for us and he is testing for promotion next month.  We are trying to keep this as much on the DL with his bosses until after he promotes.