Sunday, 26 February 2017

Sunday Stories | Estelle's Sacral Agenesis Story

Sunday stories is a series on my blog where every week a different person talks about their condition (physical, mental etc.), shares their story and raise awareness. For the past 5 years I've used my blog as a space where I could do just that but I wanted to extend things even further to allow others to talk and raise awareness of their conditions. I'm really excited to introduce everyone to you! Today the lovely Estelle is sharing her story and journey with Sacral Agenesis, so I'll pass things on to her!


Can you tell us a bit about your condition and how you were diagnosed?

Sacral agenesis (or Caudal Regression Syndrome) is a congenital disorder in which there is abnormal foetal development of the lower spine. The condition exists in a variety of forms, ranging from partial absence of the tail bone regions of the spine to absence of the lower vertebrae, pelvis and parts of the thoracic and/or lumbar areas of the spine. In some cases where only a small part of the spine is absent, there may be no outward sign of the condition. In cases where more substantial areas of the spine are absent, there may be fused, webbed, or smaller lower extremities and paralysis.
Sacral agenesis syndrome is usually associated with maternal diabetes, but not gestational diabetes, however not all children born with Sacral Agenesis have diabetic mothers. It occurs at a rate of approximately one per 25,000 live births. I was diagnosed at birth by a team of doctors who had to consult rather a lot of textbooks. I don't have a sacrum or a coccyx. Sacral agenesis affects people differently, I am quite lucky and mostly have orthopaedic and urology issues. 

How does your condition affect you on a daily basis?
On a daily basis I suffer from mobility issues - I wear adapted footwear and insoles and occasionally have to use a crutch. I have some urology issues that I deal with on a daily basis too. I have good days and bad really. I have had to have a lot of surgery, most recently a hip replacement and I will have to have my right ankle fused (I had the left done a few years ago) to ease pain. On good days, it doesn't affect me that much. I don't walk fast, I walk with a limp due to a leg length discrepancy and I tire easily. On bad days I don't walk well at all. I need to sit down a lot and take a lot of strong pain medication. I suffer from anxiety and depression too. I work full time (although I have been off the last 3 months recovering) so I try to ignore my condition to make the best of my day.
Do you have any tips for someone who is newly diagnosed?
I think this is tricky - generally a person would be diagnosed at birth although I read recently that someone was diagnosed as an adult. I belong to a few groups for people with Sacral agenesis, one of which has a lot of parents of children who have been diagnosed before or after birth. There is also an adult group for people to share stories and seek advice. I think it has been a real help to the parents in the first group to see that so many of us lead a pretty full and active life. I think that I would advise people to not be defined by their disability or condition, don't be afraid to seek help if you need it, don't suffer alone and close in on yourself like I do. There is a lot of information out there for Sacral agenesis sufferers. iSACRA have helped me to find the Facebook group and they offer so much information. 
What is one thing you would like people to remember about your condition?
As a relatively unknown condition - it's a bit rare, I'd like people to know that they can ask questions - it is better than assuming things about me. I'd tell people to remember that despite this disability you are capable of anything. 
You can follow Estelle on Twitter and she also has her own blog, Estellosaurus. As she said above as well there is more information and support on the iSACRA website.
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