REAL FACES of HYPERMOBILITY:

Face #10: Renee

Renee, what’s your diagnosis?

Loeys-Dietz Syndrome.

How old were you when you started showing symptoms?

From birth, I was always symptomatically “Different” “Floppy” “Accident-prone” “Fussy Eater” “Unwell” or took a “long time to heal.” Fatigued easily and bruised easily.

Those symptoms progressed to obstructive sleep apnoea at 2, mitral valve prolapse from 4, first of 21 fractures at 6…

And how old were you when you got your official diagnosis?

I was 8 with an official clinical diagnosis of Ehlers-Danlos Syndrome – hypermobile type.

 

At age 10- Suspected/assumed Osteogenesis Imperfecta. Managed beautifully under these “labels” with a multi-disciplinary team of clinical connective tissue geneticists and allied health and connective tissue aware specialists.

 

At age 25- Molecular genetic marker TGFβ-R1 identified. My condition was relabelled as Loeys-Dietz syndrome (LDS).

Are you able to work? If so, what do you do?

Yes- with lots of life management, adjustments and accommodating for my body’s rest, recovery and at times, unplanned “break times” needed.

I currently work full time (4 days a week) as a Radiation Therapist. I have worked PT for 6 years as a Radiation Therapist while juggling parenthood of 2 young children- from birth to 6/8 years respectively.

Did you have a career that got cut short? What was it?

My career wasn’t cut “short” as such; but I believe my career was put on “ice” as I feel I ended up working for an extended time in a part-time capacity, because of my condition. I believe I would have pursued and furthered my career in a shorter time frame, without my diagnosis. However, I don’t see that my condition has taken away from me or stopped me from perusing my career aspirations. It has instead made me take a journey that is different. Not better, not worse: just different. Every rose has its thorn, every Ying its Yang, and for every pro, there is a con.

I felt frustrated at times that I wasn’t able to be more, do more, because my brain wanted to! I felt held back in my career which I am so passionate about. I knew I wanted and was capable of a more significant impact. I had to watch those around me progress and succeed, while I felt I was stagnant.

My pros to that were, I always had the time to give my body the break it needed, without having to go back on my word, or feel I had let someone down, or alter previously made plans. My days were filled with what was needed on that day- if all I was able to do was be a mum in my PJ’s with a heat pack on both hips, then that was OK. On my good days, we could explore the local community gardens, find a park to scoot and run. I had the pleasure, the joy and the honour of so much beautiful time with my children and family in their growing years. Something that perhaps without my diagnosis, I may not have had, at the same intensity or for the same length of time.

 

You obviously have a family of your own, can you tell us more about that?

Yes, I have my husband & 2 children. My diagnosis came well before I had children. Although interestingly, my decision to have children when we did was a very well informed one, based on my known clinical diagnosis of EDS/OI hybrid diagnosis. And while the management and symptoms, in general, are so similar to Loeys-Dietz Syndrome, the one major difference is the (unknown at the time) highly unstable nature of the vascular tree and aortic in/stability.

This diagnosis came when I was 5 months pregnant with my second child.

The timing of these brought a multitude of emotions, of grieving a diagnosis that was part of my identity for 24 years; being out of control of part of my medical life I knew and understood so well; realising I couldn’t control everything. And recognizing the added risks for an LDS patients (generally, but in particular during pregnancy), on top of the hypermobile and bone fragility risk factors we were already dealing with and continued to be faced with for the duration of the pregnancy.

How many health professionals are on your team?

16
GP, OT, Osteopath, naturopath, neurologist, vascular surgeon, cardiologist, Immunologist geneticist, rehab specialist, genetic counsellor, orthopaedic specialists (ankle, knee, elbow and shoulder) Gynaecologist.

Which of those health professionals is your “go-to” person when you have questions, or things are going pear-shaped?

Depends on what part of the body, in general: GP or Clinical geneticist- although often the pathway is GP, with a special referral to that body types specialist.

What’s the most problematic symptom of your hypermobility condition?

Fatigue and Pain. Slow healing time, “domino effect” of health problems, e.g. fatigue leads to clumsiness leads to dislocation leads to immune kick back, leads to systematic health degradation.

Have you had bad experiences with ignorant health professionals? Can you tell us about one of those experiences?

Although examples of these tales are many and most complicated, and so many of them the swiss cheese model: when one thing goes wrong it leads to 4 other things going wrong too.

 

But my example I want to share was with a nurse after open heart surgery- who wasn’t willing to recognise the importance of my underlying health condition- but rather only wanted to care for me as a “heart surgery post care patient”. As my skeletal system is fragile and needs more time to heal, I needed longer before being rolled for help to prevent bed sores: which is a typical care strategy for normal post-surgery patients. With me, it unfortunately shifted my sternum causing immense pain and subluxation of my ribs/sternal joint.
Her ignorance was risky, caused pain and shows that although you may know your job well, you don’t know every patient. Take the time to listen before acting. Hypermobility conditions affect EVERY part of us, our bodies, our healing, and how we react to what is “normal”.

What’s the one thing you want the world to know about hypermobility?

What a difference the world can make if we can give hypermobility 2 things: Time and collaboration.
Time for health professionals to learn, time for patients to be heard.
Time for our bodies to heal, and give time for professionals to collaborate.
Time to share our knowledge, help put all the pieces into one amazing, glorious map of information that will help to liberate and provide hope, guidance and care to our community.

We are not unfixable, but that which makes us different needs to be given time, resources and a spirit of collaboration, and that will make monumental differences in our lives.

Why is getting the message out about hypermobility so crucial?

Our community is growing; our voices are uniting, and continuing to promote and educate. We can help to create change in a positive movement for future generations, and those who haven’t been able to find assistance, community support, or the validation and value of having a tribe to turn to.

Are there/have there been any plus sides/benefits to having your hypermobility condition?

I want to write a blog post about this for Hypermobility Connect, so stay tuned. However, one important thing is this:

We, as a family, have learned to do things differently. We don’t necessarily let hypermobility or LDS (mine & my daughters) stop us; we find another way of doing it. That’s such a valuable gift that my husband and I have been able to give to our girls – the inclination to keep trying and to find another way.