Friday, February 19, 2010

Time to see the Cardiologist

So, it turns out we are due to see the cardiologist again -- actually we were due in January of 2009.  Oops.  I called to make an appointment today, but doctors' hours appear to rival bankers' for their brevity.  It was 11:30 AM, and apparently they close up shop for the day at 11 on Fridays.  Good deal, I'll try again on Monday morning!

I remember this doctor.  She offered Fragile X testing to any family members who wanted it.  At the time we weren't able to think that way.  Since then though, both my parents have been tested as well as a few other relatives.  Specifically I remember her offering that, though, because I think I'd like to have Aliza and me tested.  Obviously I'm a carrier, but it would be interesting to know my actual repeat number (click here to see what I mean by "repeats").  Carriers of the Fragile X gene can have a variety of health issues of their own, I'm gradually becoming aware of those.

I'd like to have Aliza tested because obviously we need to know if she's carrier both so she can make informed decisions when the time comes for her to plan her own family, and so we can watch for issues carriers have, if she is one.  I'm feeling pretty confident she isn't a full mutation (click here and scroll down about 2/3 of the page to read what I mean by "full mutation".  You didn't know this was going to be such a biology lesson, did you?  Sorry, all done now.) but I need to know if she's a carrier before she gets old enough that I have to talk to her about it.

2 comments:

Holly's Mom said...

I am new to your blog, why do you have to see the Cardiologist, do the boys have the heart issue that is a symptom of FSX? Does this Doctor offer anyone free testing, or just people in your family? My biological father's died and his mother refuses to get tested, as does her daughter. I know it is from him because my mother got tested and is not a carrier, but that side ofthe family refuses to acknowleadge it is even real.. Anyway, it is nice to meet you. Stop by any time.

Bonnie said...

Hi Holly! I love your blog. They don't have the heart issue as far as we know, we just see this pediatric cardiologist (I think she's a geneticist too, I don't remember all her credentials. I'll get her card this time.) every few years to check up and make sure it hasn't developed as they grow. I remember her telling us we could all get tested there, I doubt it'll be free but I'm hopeful insurance will pay at least part of it.

Related Posts with Thumbnails

Labels

#youmightbeanautismparentif 2012 in review 9/11 memories ABA therapy Acceptance acronyms advocacy affection aggression AJ Aliza Aliza the playwright All I really need to know... Alphabitty Moments American Girl Ann Coulter antibullying anxiety anxiety in parents of children with special needs apple orchard apps for autism AppSmitten Arbaclofen Arbitrary Thoughts ARC autism autism brushing autism portrayed in TV shows Autism Shines awareness backyard band baseball bath toys beds behavior problems being tall Birthday Boys biting blog change blog hop blogging books bottles brushing bubbles Burnsville Fire Muster bus Cabin Fever in Minnesota candy Carly Fleischmann Carly's Voice cats cats and dogs chewys Chicago childcare for special needs children childhood Children's Museum chocolate Christmas Church circumin clinical trials Clonidine CNN Hero of 2011 coffee communication comparisons computer Conference cost of special education Courage Center Curcumin daddy dance dance competition dance moms Dental surgery dentist developmental milestones diagnosis diapers Diego Disability Day dogs Dolphin Tale Doomsday Preparation Dora Doritos drug trials DVD player early intervention earrings Easter ECSE Parent Retreat electronic gadgets electronics Everything I need to know... Evil Overlord fall falling asleep at school families family fashion fear Featured Feel Good Friday field trip fireworks first day of school Flash Gordon Food Chronicles food issues in Fragile X and autistic children forms forts Fragile Face of God Fragile X Fragile X advocate Fragile X and autism Fragile X Awareness Day Fragile X carriers Fragile X in the news Fragile X presentation Fragile X statistics Fragile X Writers friends fundraiser for Fragile X funniest Funny Gabrielle Giffords Galveston games getting carsick Girls' Night Out Giving Spirit glasses global warming going home Good Morning Great Quotes guest blogs guest post haircuts Halloween hearing test Heaven is for Real hippotherapy holidays Holland Holly home life homework hotel hugging human behavior hyperactivity IEP Meeting IEPs in the news inclusion inspiration integration iPad iPad apps iPad apps for autism IQ testing Jack Jablonski January First Joke journal entry kids with Fragile X and animals Kindergarten Kindle kisses language study learning to talk leaves lemonade stand Lily Little Einsteins losing teeth Mad Gab makeup mall Mall of America marcia braden McDonalds media sensationalization medications Melatonin Miami MIND Institute Minnesota Bloggers Conference minocycline Miracle League monkeys mosquito bites Mother's Day movies MVMOM Used Clothing and Equipment Sale nail trimming names naughtiness neighbors nicknames nightmares normal off topic one thing leads to another online dating Operation Beautiful oral sensory orphan drug act other bloggers Our Wedding outside overstimulation panic attacks parade parental stress Parenthood park Partners in Policymaking penicillin people with disabilities pets pharmacy fun photography Photoshop picnic Pictures pinching pink shirt Pinterest playing outside playing with toys poem politics poop potty training Presents protecting autistic children rash reading to kids research Retreat riding a bike Robin Williams Roger Ebert routine RSS feed RUSH University San Diego Sandy Hook Elementary Santa schedules school school bus school notes school pictures screaming self image self-checkouts sensory Seroquel siblings with developmental delays sick kids sippy cups sleep smile snow pictures Snowstorm social situations speaking of the unspeakable special education special education evaluation special needs kids special needs parents Special Needs Ryan Gosling Special Olympics spelling spoon feeding spring break staying positive stimming Strep STX209 Stylish Blog Award suicide summer Sunday School Sundays sunshine survival mode swimming talking talking to kindergarteners Target teacher's aides Teeth brushing Tegretol Temple Grandin Ten Commandments textbook case of Fragile X thankful thanksgiving that window/mirror thing The Autism Store The R Word the rapid passage of time The Right Things to say to parents of special needs children The Santa Experience the Shedd Aquarium The Twin Thing The Wiggles therapeutic horseback riding therapy This is Autism topless trampoline traveling with special needs children TV twins with special needs Twitter typical Fragile X characteristics typical kids typing vacation Vacation Bible School video games videos volunteering Waisman Center water play way-back-Wednesday What I've Learned What's your song? when a special needs parent dies Wiggles Wii games Winner Winner Chicken Dinner winter wonder Wonder Pets Wordful Wednesday Wordless Wednesday Words of Wisdom World Autism Awareness Day YMCA You Tube Zack Zoloft zoo animals

Fragile X Blogs