Kaycee Carbone

General Pediatrics & Vascular Anomalies GC | MGH IHP Genetic Counseling ‘23 🧬 | former 🥎 player | she/her

[Kaycee Carbone @KayceeCarbone]

#geneticcounseling #genechat #triage #EDS

[Kaycee Carbone @KayceeCarbone]

I had the wonderful opportunity to be on the DNA Dialogues podcast to discuss triaged used by genetics clinics for EDS. It is a topic near to my heart and important to reflect on to ensure all patients receive appropriate care. Check out the podcast here:
https://t.co/R6OScsqgDO

[Kaycee Carbone @KayceeCarbone]

Hoping to connect with some genetic counselors either working in vascular anomalies and/or somatic, tissue genetic testing!

[Kaycee Carbone @KayceeCarbone]

Hoping to connect with some genetic counselors either working in vascular anomalies and/or somatic, tissue genetic testing!

[Stuart Schreiber @SchreiberStuart]

The moving life story of a patient–scientist: https://t.co/de0afuKVFw

[Duke Softball @DukeSOFTBALL]

BLUE DEVILS RESPOND ‼️‼️‼️

@frankiefrelick connects on a two-out, two-strike, two-run HOME RUN to push us out in front!

T2 | DUKE 2, MIZ 1 | 📺 ESPN2

[UMass Softball @UMassSoftball]

That's an A-10 𝓦 😊

The Minutewomen flex their power and claim game one of the @atlantic10 Championship!!

#Flagship🚩

[The Ehlers-Danlos Society @TheEDSociety]

What are the types of EDS?

The current classification includes 13 types of #EhlersDanlosSyndrome (EDS).

Each type of EDS has its own set of features with distinct diagnostic criteria. Some features are seen across all types of EDS, including joint hypermobility, skin hyperextensibility, and tissue fragility.
🧬Arthrochalasia EDS (aEDS)⁠
🧬Brittle Cornea Syndrome (BCS)⁠
🧬Cardiac-valvular EDS (cvEDS)⁠
🧬Classical EDS (cEDS)⁠
🧬Classical-like EDS (clEDS)⁠
🧬Dermatosparaxis EDS (dEDS)⁠
🧬Hypermobile EDS (hEDS)⁠
🧬Kyphoscoliotic EDS (kEDS)⁠
🧬Musculocontractural EDS (mcEDS)⁠
🧬Myopathic EDS (mEDS)⁠
🧬Periodontal EDS (pEDS)⁠
🧬Spondylodysplastic EDS (spEDS)⁠
🧬Vascular Ehlers-Danlos Syndrome (vEDS)⁠
⁠
Each type of EDS is caused by variants in specific genes that provide the instructions for making collagens and related proteins. Some types of EDS are associated with multiple different genes. The genetic cause(s) of hEDS have not been identified.

Learn more about the associated gene(s), affected protein(s), and distinguishing features of each type of EDS here: https://t.co/hkadA9VH9j #MedTwitter #Healthcare #MedEd

[The Ehlers-Danlos Society @TheEDSociety]

May is Ehlers-Danlos Syndromes Awareness Month. What are the Ehlers-Danlos syndromes (EDS)?⁠
⁠
The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that vary in how they affect the body and their genetic causes.⁠ 🧬⁠
⁠
⁠Variants in the genes that determine how the body makes collagen and other proteins that work alongside collagen have been shown to cause EDS. ⁠
⁠
At this time, genetic variants have been found in all types of EDS, with the exception of hypermobile EDS (hEDS).⁠🔬⁠
⁠
Connective tissue is everywhere in the body. It provides support and structure to other tissues and organs, including bone, ligaments, tendons, blood vessels, lymphatic vessels, the tissue that holds the gastrointestinal tract in place, etc. ⁠
⁠
❓️⁠Signs and symptoms⁠
⁠
Some certain signs and symptoms are common across all types of EDS. However, these can vary in severity between individuals, even with the same type of EDS. ⁠
⁠
These include:⁠
⁠
• Joint hypermobility⁠
• Joint instability with dislocations and/or subluxations⁠
• Injury to connective tissues in and around joints⁠
• Joint, muscle, and nerve pain⁠
• Scoliosis⁠
• Hernias⁠
• Pelvic floor weakness and prolapse⁠
• Easy Bruising⁠
• Stretchy skin⁠
• Fragile skin⁠
• Scarring⁠
• Slow or poor wound healing⁠
⁠
In rarer genetically-defined types of EDS, there are specific concerns with certain tissues of the body that can present with complications such as:⁠
⁠
• Arterial/intestinal/uterine fragility or rupture (usually⁠
associated with vascular EDS (vEDS))⁠
• Pneumothorax (collapsed lung)⁠
• Severe dental and gum disease⁠
• Severe scarring of the cornea of the eye⁠
⁠
Across all the types of EDS, a number of conditions and symptoms are now also recognized as common. These include:⁠
⁠
• Fatigue⁠
• Autonomic dysfunction (such as fast heart rate and/or low blood pressure)⁠
• Headaches⁠
• Gastrointestinal problems⁠
• Anxiety disorders⁠
• Heavy and painful periods and bladder pain⁠
• Allergies and intolerances⁠
⁠
➡️ Learn more here: https://t.co/hkadA9VH9j
⁠
❓️What would you like people to know about EDS?

#MedTwitter #MedEd #EhlersDanlosSyndrome #Healthcare #Hypermobility

[StudyRare 🧬 @studyrare]

📢 I am excited to announce the 30-hour ABGC Board Review Bootcamp from Thu June 13 - Thu July 25 for those taking the exam in Aug 2024! We will cover 400+ high-yield concepts across all 5 domains from the new ABGC content outline. 1 scholarship also available. Sign up👇#GeneChat

[LSU Softball @LSUsoftball]

In August, the cardiac experts at @OLOLhealth discovered that Freshman Sierra Daniel had Wolff-Parkinson-White syndrome during her annual student-athlete physical. This physical included an EKG that detected this rare congenital heart condition that required cardiac ablation surgery.

Thanks to the specialists at Our Lady of the Lake Heart & Vascular Institute, @Sierrad0303’s surgery was a success and she was able to return to the field quickly.

Tonight we will honor pregame Dr. C. Andrew Smith for his role in leading Sierra’s care team as one of the Our Lady of the Lake’s Geaux Heroes!

#GeauxTigers

[Only In Boston @OnlyInBOS]

Happy Opening Day from Boston.

[Cincinnati Zoo @CincinnatiZoo]

Sundays are for relaxing 💤

[Kaycee Carbone @KayceeCarbone]

@Ali_Conn Still trying to figure it out 🥲

[Kaycee Carbone @KayceeCarbone]

Like is this correct

[Kaycee Carbone @KayceeCarbone]

@MadiBtheGC CONGRATULATIONS, MADI 🎉☺️

[The Ehlers-Danlos Society @TheEDSociety]

Researchers at Boston University are undertaking a study to understand better what types of barriers prevent patients with #hypermobileEhlersDanossyndrome (hEDS) from accessing specialist care: https://t.co/gEzod1ZdYZ

[NCAA Softball @NCAASoftball]

2024 season loading 🥎📶

#NCAASoftball

[StudyRare 🧬 @studyrare]

LCHAD deficiency is a fatty acid oxidation disorder that, when present in the fetus, can cause disease in the mother🤰.

To remember this, think "Lady's Child Has A Disease" (LCHAD) that in Late pregnancy Causes HELLP, AFLP, and Death (potentially).
#GeneChat

[Kaycee Carbone @KayceeCarbone]

@jaclynulman Thank you, Jaclyn! I think that she actually tried to use that but not sure she had any luck 😅

[Kaycee Carbone @KayceeCarbone]

Hoping med Twitter can provide some insight here. Is there a particular specialty you would refer someone to for lipedema? I am unfamiliar with the condition but trying to help a friend.