Hey @brotherhq I’m all about sharing awesome science facts on SnapChat, but this one is so hilariously wrong that I have to chime in. You receive all the chromosomes you will ever have at conception, including your 2 sex chromosomes. An X chromosome doesn’t magically turn into a Y chromosome to make a male after an embryo is conceived. I’m pretty sure you meant gonads. Gonads are the same in males and females until the 7th week of embryonic development. For the sake of all your readers who might use this as their new go-to pickup line or fun fact, save them some embarrassment and fix your current featured SnapChat story! 😂
Your friendly neighborhood genetic counseling student
👶🏻She came out crying. ❤️She wasn't blue.
I got to hold her immediately 🙏🏼. Today's appointment brought back some emotional memories. 🤰🏻My first pregnancy...
WEEKS 1-19: Physically easy; felt great; LOVED my belly; was super excited to be a mommy!!!
WEEKS 20-37.5: an emotional and #mentalDISASTER ...worst 17. 5 weeks of my life😪
At 20 week pregnant, my daughter was diagnosed with #PulmonaryStenosis and it only got worse as my pregnancy progressed. I had #lengthysonograms and went to #geneticcounseling which left us with LOTS of #unansweredquestions and some very #difficultdecisions to make.
I kept most of what was going on a secret😔
Which means I cried myself to sleep, and on the car ride to and from the doctors countless times. .
THE DAY SHE WAS BORN: If you know me, I'm an #emotionalperson and should have been #bawling , but I didn't. I was told that she might come out blue...she may not be breathing...we may not #hearhercry ...wevmay not be able to hold her...she may need to be taken to surgery. I didn't want to #feelattached . I didn't want to give her a #pieceofme until I knew she was going to be ok. I didn't bond with her the way you picture #bonding with your #newborn , especially your #firstborn . And I regret this every single day. 😔
My mentality was negative. I thought the worse. What if she didn't make it? What if she wasn't breathing? What if surgery didn't fix the problem? What if she had one of the many syndromes we were told about? BUT what I didn't think about was...What if she was fine? What if she didn't even need surgery? A syndrome doesn't shape who she is or how much we would love her so why would that even matter? What if all this worrying was for nothing?
And that's how I try to live my life now.
I think of the positive. I think of all the goodness that surrounds me. I've learned that communicating feelings is important. I've learned that things don't always go as planned. I've learned that sharing your story will only help others who like me, are #silentlystruggling .
🛑Don't #sufferinsilence ! Next time you find yourself crying alone,TALK ABOUT IT!!! There will be others who are willing to listen and share
Presenting today’s genetic condition, Menke’s Syndrome, also known as Kinky Hair Syndrome or Ehlers-Danlos Type IX. This X-linked recessive (meaning it only affects male offspring, with only one X chromosome) connective tissue disease is caused by a defect in a cellular copper transporting protein, leading to a build up of copper in lots of places where it doesn’t belong, and a lack of copper in the mitochondrial enzymes where it is desperately needed. The disease is characterized by brittle, copper or steel-colored, "kinky” hair, sagging facial features with loose skin, and brittle bones prone to spontaneous fractures, and babies with this disorder ultimately develop seizures and deterioration of the nervous system with death before age 3. Unfortunately there is no cure or known effective treatment. This disease affects 1 in 100,000 to 250,000 newborns, and female carriers of this gene have a 50% chance of passing this condition along to any male offspring but a 0% chance of passing this along to any female offspring (although the female offspring would have a 50% chance of being carriers themselves).
The fact that my job is being able to connect with and help families through their genetic journeys has already been so rewarding ❤️ I count my lucky stars that @caudlemm was applying to GC programs in our fourth year, that allowed me to even hear about this profession! I'm just at at he start of my carreer in this field, but I look forward to how I can continue to help families in my own way :) #geneticcounseling#gcawareness2017
Today’s the day!! National Genetic Counselor Awareness Day!
I hope y’all have been able to learn a little bit about what my fellow GC’s and I provide for the healthcare community through my posts in these last few weeks.
If y’all ever have any questions, don’t hesitate to reach out! #iamageneticcounselor#geneticcounseling#prenatal
It's genetic counselor awareness day!! Your family history may indicate you'd be a great candidate to chat with a genetic counselor. Learn more about genetics and cancer risk, and start a conversation with a counselor today at ExploreYourGenetics.org.
It's the first-ever Genetic Counselor Awareness Day today! The genetic counselors in HCI's Family Cancer Assessment Clinic help people with a family history of cancer determine whether they need genetic testing and increased cancer screenings. Join us in thanking our genetic counselors for the important work they do! #geneticcounseling#GeneticCounselorAwarenessDay
Today is the FIRST ANNUAL Genetic Counselor Awareness Day! I am so incredibly proud to be a part of this growing community. The SLC class Of 2013 has accomplished so much since we graduated and I can't wait to see what we all do in our respective specialties in the future. Over the past 4 (almost 5!) years I have had amazing colleagues who have turned into life-long friends. The fact that we have such differing roles all over the healthcare landscape and we can come together and not just be constructive coworkers but have a good time while doing it speaks to the fact that at our core, the Genetic Counseling community is filled with kind, passionate, hardworking, and immensely good-hearted people. Happy GC Awareness Day to all the amazing people that have touched my professional life thus far. I am forever grateful for you, and forever grateful to have the career that I do. It is a privilege to have interacted with and impacted as many patients as I have. I can't wait to continue to make forward and upward strides, and to see this special day grow in meaning every single year. #iamageneticcounselor#nsgc#abgc#genetics#geneticcounseling#coopergenomics#professionalgay#familyplanning#nipt#carrierscreening#babies#reproductivehealth#reproductivegenetics#slc @coopergenomics
It's Genetic Counselor Awareness Day! Genetic counselors are health professionals that help people understand how inherited diseases may affect them and their families. GCs facilitate decision-making and help families make informed decisions about their healthcare, provide psychosocial support to help families cope with diagnoses, and so much more. In the past year I've had the incredible opportunity to work with some amazing genetic counselors. These genetic counselors are incredible advocates for the families that they meet with every day. I am so incredibly proud to call myself a (soon to be) genetic counselor and to join the ranks of such a passionate, dedicated group of people. #IAmAGeneticCounselor#geneticcounseling#GCChat#NUGPGC#genetics
An important inborn error of metabolism that every single baby 👶🏼 born in a hospital 🏥 in the US is tested for during the newborn screen; Homocystinuria, an autosomal recessive condition (meaning one copy of the gene needs to be inherited from both parents) where a defect in an enzyme responsible for the metabolism of the amino acid methionine, located on chromosome 21, is defective. This leads the inability of the body to make cysteine from scratch and thus requires this amino acid to be exclusively acquired from the diet, as well as build up of excess homocysteine in the blood and urine, which overtime causes a plethora of problems. Babies appear normal at birth and throughout infancy, but develop problems that affect the connective tissues of the body. Children and adults with this disorder are often tall and lanky with abnormally long arms and legs, referred to as “Marfanoid Habitus.” They may also have problems with vision if they have subluxation of the lens of the eye, heart failure if they develop severe prolapse of the valves of the heart, developmental delays, and are at increased risk of death from heart attack and stroke. Untreated patients with this disorder rarely live beyond age 30; proper treatment simply involves a very low-protein and low-sulfur diet as well as high dose vitamin B6 and B9 supplementation, and if followed strictly can lead to a completely normal life span #themoreyouknow
Patients at high risk for familial #cancer , history of cancer at a young age, or history of multiple cancer occurrences may be referred to #geneticcounseling for #genetictesting from the #primarycare office, which makes #internists an important partner with genetic counseling. Read the full commentary at Annals.org