Chiari Connection International

12/27/2025

this is just the beginning! If they can change the genes for sickle cell, can you imagine what they can do for Mast Cell in the future?

A major medical milestone has been reached in New York after a young patient with sickle cell anemia successfully underwent advanced gene therapy. The treatment involved modifying the patient’s own stem cells so the body can produce healthy red blood cells, eliminating the painful symptoms that once controlled his life.

For the first time, a therapy is being celebrated not just for easing symptoms, but for changing a patient’s future entirely. While the procedure is complex and still limited in availability, this moment represents a powerful step forward for patients and families affected by sickle cell disease around the world.

12/27/2025

If you've had a major surgery, you've been on opiates, just a gentle reminder of the role of opiates in our lives and when to quit!

Pills might sound like an easy answer for many kinds of pain, but when it comes to opioids, side effects can actually get in the way of recovery. Here’s how.

12/24/2025

I absolutely love when patients advocate for themselves and brain storm on how to get the root of the cause! We all know our bodie are not easy to diagnose and or treat! But finding that medical team to work for you is important.

My appointment with MIPS went well. She said the MRA would not have added a lot of value. Instead of an MRA, it is an MRV that they do in addition to the MRI.

With the imaging they have, she was able to diagnose May-Thurner Syndrome and Pelvic Congestion Syndrome, and recommended Iliac Artery Transposition surgery, a major vascular surgery.

She wasn't able to diagnose the third syndrome that goes with MTS and PCS because the imaging didn't go up high enough.

She made a referral to a vascular surgeon at Emory. While I wait for that to take place, I will investigate inside the Facebook groups for May-Thurner Syndrome to see if there's a better qualified doctor for someone who is a complex hEDS patient like myself.

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16 surgeries in the rear view mirror, with most being major surgeries, and now a minimum of 2 or 3 more expected. Bilateral styloidectomies eventually, once I can get around to addressing them, and now this major vascular surgery.

Oh, and:
My hip labrum needs replaced and my left clavicle issue needs to be addressed.

I'm just done with my body! DONE!

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I'm trying to remain focused on the positive that today my healthcare journey was positively moved forward, FINALLY.

It shouldn't have taken this long to get this level of care. This is why I'm so public - to help facilitate change. Awareness breeds change. If I could do something else, I would. All I have at my disposal to throw into this fight is my story... so I share it.

It also helps with the GFM too of course, but evidently the Activist in me is 95% of my DNA. She wants desperately to exact change for the millions of others like myself. So much has been ripped apart in my life because of the inadequacies of the healthcare system. So much must change.

I'm not a one-off. I represent millions of others. change for us will exact change for millions more.

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For the next few days though, I will turn off my patient-brain and attempt to only be Christmas focused.

Thank you all who have cared to keep tabs and send encouragement! I hope you all have a lovely Christmas and enjoy a lot of quality time with your loved ones and friends.

May God Keep You and Yours Well!

Dawn

12/23/2025

the gym at any level is so important to keep our bodies strong. Supporting our bodies is just as important.

12/23/2025

There's 13 different types of EDS! This is hEDS!

12/19/2025

JUST IN: The second Brown University sh**ting victim has been identified as 18-year-old Uzbekistan immigrant Mukhammad Aziz Umurzokov.

Umurzokov, who suffered from Chiari malformation, wanted to become a neurosurgeon to help children the way doctors helped him.

Umurzokov and his family are naturalized citizens who came to the United States in 2011.

🙏

12/14/2025

Let's goooooo!

🧬 Is Chiari Malformation Genetic?

Current research suggests Chiari isn’t caused by a single gene, but there is growing evidence of an inherited susceptibility. Studies show that both genetic factors and structural differences in the skull and connective tissue may increase risk, especially in families where multiple members are affected.

🔬What researchers are finding:

▪️Familial cases appear in ~3% of pediatric patients
▪️Overlap with connective-tissue disorders like EDS, Noonan Syndrome, and ▪️Robin Sequence
▪️Rare genetic variants linked to collagen, craniofacial development, and the CHD gene family
▪️Epigenetic changes may influence how genes are expressed, affecting skull and brain development
▪️Imaging studies show some families share structural traits that may predispose them to Chiari

🔗Read the full article: https://asap.org/chiari-and-genetics/

University of Wisconsin - Department of Neurological Surgery

12/13/2025

how POTS effects our whole body!

Check out Kat Thomas 💙💙💙❌️’s post.

12/13/2025

Love this Group!

🥰We are pleased to announce Volume 13, Issue 8 (April-2 2024) – 293 articles!
👏Enjoy reading Peer-reviewed and Open-access papers:
bit.ly/3Wvx3jt
Issue cover entitled "Sexual Dysfunction in Postural Orthostatic Tachycardia Syndrome (POTS): A Cross-Sectional, Case-Control Study" by Dr. Svetlana Blitshteyn, et al

12/13/2025

12/11/2025

so happy more MD's are understanding the complexities!