- Pregnancy
- Baby & Toddler
- Parents
- Getting Pregnant
- Baby Names
- Product Reviews
-
Registry
- Community
-
More
Want a personalized experience?
Download the free app
Special Needs
Intro and geneticist question
Hello- My name is Lisa and I am the step mom to a wonderful 7 year old who has a retinal dystrophy which is genetic. She has some sight, but it is limited. Basically, if you make a circle with you thumb and pointer finger and look through it, that is the hole she is looking through. She has no depth perception, no sight in the dark, and limited color. She meets the criteria for legal blindness. We are going through the process of getting her into a school that can provide more support for her than her current placement.
At our meeting last week, the vision specialist recommended seeing a geneticist to see if there was something more to her diagnosis because she believes there is. I used to teach and I know she "shouldn't" have said that but I really appreciate that she did. I intend to call tomorrow to try to get an appt but she said it would probably take some time to get in. My question is about the process. I would like to prepare myself and her father for what is coming. Is it generally a blood test? How long did results take? I am way out of my league with this one. Thanks in advance for any insight you can offer!
This discussion has been closed.
Re: Intro and geneticist question
OMG!!! We saw your husband the week after Christmas! He was great! SD had a day of total loss of vision so he got us in the following day. We think it was an opthamolic migraine. I actually just recommended him on our local Bump for someone who was looking for an optometrist because he was so good with SD! We do love Dr Abrams and are following her to her Towson office. SD has also see Dr Sunness at GBMC.
SD entered infants and toddlers when she was 2 1/2. We have had such positive experiences with them, early intervention, prek, and now in her home school. She will be (hopefully) moving to a program in a school for students with severe vision problems. There is a full time vision specialist as well as 3 braille techs who create everything the students need in braille as well as adjusting other materials to make them useful for students like SD who have some sight. I know people sometimes have difficulties with services, but HCPS has been wonderful to us all around!
Hi there and Welcome! We are another Maryland family and I have a bit of experience regarding your geneticist appointment.
Your first appointment the geneticist will probably want to do a full physical exam on your SD and they may take blood. I think the testing will depend upon a couple of things. Be prepared that you may talk to more then one person. In our experience there is usually a genetic counselor, maybe a student or two and the actual geneticist. The counselor will take a family history so it will be good for your DH to be prepared regarding any family information about his family and SD's mom's family. (Is the mom going too?) They basically ask about how many kids, if anyone had any major illness or birth defects etc. They may also ask about when she was born, how many days in NICU, milestones etc, etc.
Since your SD is older they may do the physical exam differently than they did our son's. They basically started a laundry list of all the things that were "off" about his appearance such as: wide spaced eyes, low set ears, small eyes, flat upper lip, adducted thumbs...etc...etc. It sucks to hear everything listed like that-even things you never even noticed. Since you SD is older they may not do the list out loud like they did Nate's.
If they do a micro-array genetic test, results will take anywhere from 4-8 weeks to get back. If you go to Kennedy-Krieger, they have their own lab so results may be quicker. More than likely they will have you arrange for a follow-up visit and will discusss the findings then.
Your geneticist may also want to consult with your pediatric opthamologist so bring their contact info with you. Our geneticist is Dr. Greene at University of Maryland and we really like her. She came to see Nate at his bassinet when he was less than 12 hours old and that is when we got our laundry list ;P Our opthamologist is Dr. Fiergang who was also the eye doctor on call when Nate was in NICU. We like him a lot too. Nate was originally dx'd with Macular Hypoplasia which has since matured. His practice is in Cross Keys and I think he has other offices too.
Good Luck and Welcome! Feel free to PM me if you have any other questions.
Thanks so much for your responses! They are both so helpful!
Assembly- Dr Fiergang was our second eye dr! His office was just too far from where we live considering how often we need to go. I am not sure who we will see as for the geneticist. I am calling Dr Sunness tomorrow for a recommendation.
Wow....I just read the post you were refering to about someone needing a local eye dr. There was alot of wrong information on that post regarding the differences between an optometrist and an ophthalmologist.
I'm glad you liked my husband. He does remember you.
@Lesley- I don't know if it's a good thing or a bad thing he remembers us! J/k- I'm sure that's not something he sees often.
@auntie- We are hopeful she'll be involved. We have had to run down the list of similar family problems with other drs so we can give that information as a last resort. The only vision problem on either side is near/far sightedness.