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? for those with children genetic conditions

Posted by on May. 22, 2014 at 2:46 PM
  • 18 Replies

Do you see a geneticists regularly/annually even if you have a diagnosis?  If so, what do they do?  I know many children with my daughter's diagnosis see a geneticists, but sometimes feel like it's a waste.  However, her specialists aren't very knowledgeable about the diagnosis and it'd be nice to have at least one of her drs know as much, if not more about it than I do.  I don't want to waste my time and take her to more appointments than she needs, but I want to be sure symptoms are caught that we may not notice.  Advice?

by on May. 22, 2014 at 2:46 PM
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Replies (1-10):
N.Carter2001
by Silver Member on May. 22, 2014 at 4:28 PM

We went to 1 of those doctors when i was pregnant.  My OB was worried cause my boyfriend cory  has HSP. So she just wanted to make sure no risk.  No risk just get told it a 50/50 that baby could have it.   Cory already knew that cause his mom and brother also has it.  So no we only went that 1 time. Cause if you have it they cant do anything.  Yes r 1st son has HSP and he in a wheelchair just like his dad. he also has autism. I try to stay away from doctors cause in past they make me feel bad cause pregant again and they like you have 1 son that cant walk. And we having another child that may also have problems.  Oh and r 2nd son is not special needs.   I hope i was some help ? 

Momof4AEMW
by Gold Member on May. 22, 2014 at 4:49 PM

 My daughter a has down syndrome.  I saw one right after the bloodwork came back to get some information but that was the only visit.

Bluecalm
by Silver Member on May. 22, 2014 at 5:01 PM
We went every 3 months the first year and every 6 months to second year. Our geneticist is great and very involved.
jjamom
by Michele on May. 22, 2014 at 6:09 PM
We used to see the Geneticist annually. He was an expert in Down syndrome and really sort if helped manage my sons overall care, prioritizing specialist appts, referring us to the best specialists when needed, etc. we haven't seen him for a few years though because my son is much healthier. I know some people take their kids to a DS clinic, so I'm not sure what your DDs dx is and if there is a clinic near you for it, but that might be an option. If not, contact your Children's hospital Genetics Dept and find out if they have a Geneticist who specializes in her dx.
Whisper85
by Member on May. 22, 2014 at 6:10 PM

We have an appointment pretty soon for our oldest, so I really don't know how often they will plan for him to go. He has hearing loss, and they think he may have inherited it, but they want to make sure. 

MamaCeleste0722
by Bronze Member on May. 22, 2014 at 6:14 PM
1 mom liked this
My kids have Neurofibromatosis type 1. They go to the NF clinic every year. Fortunately they are very knowledgeable. When we go to their appointments, they ask us questions, how things are going, check for anything new. If need be, they'll set us up for any additional testing (neuropsychology, MRI's, etc)
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imapepper
by on May. 23, 2014 at 8:45 AM
My daughter has 22q, also called digeorge or velo cardio facial syndrome. There are a few clinics for it around the country, but none anywhere near us. Our pediatrician didn't seem to think genetics is necessary because we already have a diagnosis, know there is pretty much no chance of future children having it and she has a 50 percent chance of passing out to her kids. She didn't seem to have a lot of the severe symptoms, but Im afraid of something being missed.


Quoting jjamom: We used to see the Geneticist annually. He was an expert in Down syndrome and really sort if helped manage my sons overall care, prioritizing specialist appts, referring us to the best specialists when needed, etc. we haven't seen him for a few years though because my son is much healthier. I know some people take their kids to a DS clinic, so I'm not sure what your DDs dx is and if there is a clinic near you for it, but that might be an option. If not, contact your Children's hospital Genetics Dept and find out if they have a Geneticist who specializes in her dx.
jjamom
by Michele on May. 23, 2014 at 9:32 AM
I think it is a common misconception that genetics is only for diagnosis. It can be really helpful in managing care also.

Our pediatrician is very comfortable treating Alex, but never disagrees with seeing a specialist when needed, including genetics. Regular pediatricians are not necessarily intricately knowledgable about every genetic condition that exists.

Like I said, we haven't been for a few years now because I feel like I am on top of things and most of his medical issues are under control with the care of specialists. But sometimes it is really helpful having someone on the team who really knows the condition or syndrome inside and out.

Quoting imapepper: My daughter has 22q, also called digeorge or velo cardio facial syndrome. There are a few clinics for it around the country, but none anywhere near us. Our pediatrician didn't seem to think genetics is necessary because we already have a diagnosis, know there is pretty much no chance of future children having it and she has a 50 percent chance of passing out to her kids. She didn't seem to have a lot of the severe symptoms, but Im afraid of something being missed.


Quoting jjamom: We used to see the Geneticist annually. He was an expert in Down syndrome and really sort if helped manage my sons overall care, prioritizing specialist appts, referring us to the best specialists when needed, etc. we haven't seen him for a few years though because my son is much healthier. I know some people take their kids to a DS clinic, so I'm not sure what your DDs dx is and if there is a clinic near you for it, but that might be an option. If not, contact your Children's hospital Genetics Dept and find out if they have a Geneticist who specializes in her dx.
michele115
by Michele on May. 23, 2014 at 2:40 PM
We went once when Logan was a baby. I asked questions probably lots of parents feel about how he would be mentally and meeting milestones and such and he was such a jerk we never went back. Also there were things I told them in confidence and they typed them up in a letter and mailed it to the house.
jjamom
by Michele on May. 23, 2014 at 3:26 PM
That is horrible! We had an appt scheduled with one geneticist, but my son was admitted to Children's and we met her. She just gave me this long laundry list of all the things that could be "wrong" with my son and I called and cancelled the appt when we got home. I joined a support group and they all recommended this wonderful man who has a "sky's the limit" approach to raising kids with DS and we saw him for years. It seems it is hit or miss.

Quoting michele115: We went once when Logan was a baby. I asked questions probably lots of parents feel about how he would be mentally and meeting milestones and such and he was such a jerk we never went back. Also there were things I told them in confidence and they typed them up in a letter and mailed it to the house.
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