Hear Our Community Voices.

Community Member: Jennifer Hillier.

 

Our ‘Community Voices’ Series.

At CTDNA, we believe there is power in sharing stories. Our Community Voices series, gives a platform to individuals living with heritable connective tissue disorders (HCTDs) to share their journeys, challenges, and triumphs in their own words.

Through these lived experience stories, we aim to build understanding, reduce isolation, and highlight the many different ways HCTDs can affect everyday life. Each voice is unique, and every story matters.

November 2025 Community Voice is that of Jennifer Hillier. Read below Jennifer’s words in our easy read, short-form Q&A style. 

Tell us a little about who you are? (separate from HCTD).

I am a mom of 4 and nana is one of the most precious gifts that God has given me. I work full time as a client services administrator for a small accountancy firm in Perth Australia. I was born and raised in the United States of America. I have been a dual citizen for almost 9 years but my heart will always belong in Ohio.

Can you tell us what type of heritable connective tissue disorder (HCTD) you live with?*

I have Vascular Ehlers Danlos and I also have classic Ehlers Danlos.  I have a genetically confirmed heterozygous contiguous gene deletion overlapping the entire COL3A1 and COL5a1 genes. My deletion extends beyond those two genes as well and represents a heterozygous deletion of 2q32.2 approximately 0.7Mb in size

What is your favourite way to explain your HCTD to others?

I have issues which make my connective tissues fragile. My arteries are prone to dissection and my organs are prone to rupture. As an added bonus I’m a bit bendy, at risk for aortic aneurysm and my body aches all the time.

How did you find out you have a HCTD?

Following a spontaneous carotid artery dissection which resulted in multiple strokes I had a very in tune doctor that decided at the last moment to send me for genetic testing. I have a couple of cousins who have a COL4a1 disorder, family history of young strokes and long history with medical issues that were unexplained.

Did you have signs of a HCTD during childhood? If so, what were they? Or what were some of your first signs of HCTD?

I grew up with 1-2 severe migraines from as early as my memory goes back until around age 14 when they eased to an occasional occurrence. I hit my head on a pool around 10 years of age and the stitches started feeling very tight and I started hemorrhaging and had to be rushed to hospital to fix the problem. I had placenta previa with all 4 pregnancies. In my third pregnancy, the placenta got stuck and I had massive bleeding.  My fourth delivery caused my uterus to prolapse. I had open abdominal surgery to remove my uterus. Scar tissue growth meant they were unable to do a Laparoscopic procedure. It took around 6 months for my body to fully recover from that surgery. I had knee surgery from a torn meniscus that saw me in a wheelchair for a year due to my knee tissue locking everything straight following surgery.

I have lived with and learned to deal with full body aches and pains that never stop. Over the years of being told that nothing is wrong, you learn to just drudge on and accept that this is life. 

In what way does your HCTD impact your everyday life?

I have constant achiness and joint pain which when at all possible I don’t often give in to. I have to be very mindful with physical activity so as to not strain anything which is slowly becoming second nature. My digestive system is always a mess as well. I honestly try to not allow this to hold me back or get me down. I am one of the lucky ones because knowledge is power! My focus is putting all of my hopes in the medical community advancing to benefit my 3 children who have unfortunately inherited this disease from me. My oldest daughter somehow was the only one out of my four babies to escape this diagnosis. 

What kinds of adjustments or supports have helped you manage day to day?

I have given in only over the past week and decided to take my full time work schedule down by an hour and a half a day to provide me with a little me time to rest. And I currently own a billion support pillows for at night. I have only recently begun allowing a sports medicine doctor to scan my knees and hips to decide what is needed to assist there. 

What has your experience been in accessing what you need? Has this changed across your journey?

I have been utterly lost since my diagnosis as far as accessing what I need to make life easier. I have a team of surgeons ready to step in when the worst happens and yearly whole body MRIs to watch for the worst. But as far as every day needs and pain there is a huge gap in the medical community to assist with this. I have a GP whose knowledge is non-existent with my disorder and unfortunately has zero idea how much pain that I am in. Lifelong experience of dealing with pain makes you carry it well and when you aren’t writhing on the floor, the general consensus is you don’t need anything because you can cope. The problem is…. I want to thrive and survive …. Not just live and get by.

What would you like others to know about your HCTD?

It is scary and big and life changing for me and my children. Yet people from the outside see nothing. Just because we live in a package that looks completely normal, it doesn’t mean we aren’t struggling every second of every day. 

If you would like to discuss sharing your journey and experiences of life impacted by HCTD please email us via hello@ctdna.org.au