This week’s blog by David Rose introduces what it’s like to live with a rare condition, including a hope for better treatments for this multi-symptomatic disorder.
My name is David Rose. I’m 28 years old, and I have ‘Occipital Horn Syndrome (OHS)’. Formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked recessive connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper, associated with mutations in the ATP7A gene. Occipital Horn Syndrome affects more males than females, since the disorder is X-Linked recessive.
Due to having OHS, I’ve had over seventy operations and procedures, thus far, with others planned in the future.
My heart, kidney, bladder and bowel are all affected by having OHS, along with my entire muscular-skeletal system.
Road to diagnosis:
As a child, I was loosely diagnosed with ‘Ehlers-Danlos Syndrome’. At six weeks, I had my first operation. In the first months of my life, I started to be seen at Great Ormond Street Hospital. I didn’t start walking until I was nearly two, and the doctors noticed problems with my kidneys and heart.
Around five years ago, I felt my body really beginning to change for the worse.
Two years ago, I began genetics testing at Addenbrookes hospital in Cambridge – it was an interesting process of testing various gene changes. I was formally diagnosed with Occipital Horn Syndrome in July 2016. It was a relief to finally have an answer after all these years of having been told I have lots of complicated problems, but with never a firm medical diagnosis.
What’s it like to live with:
It has varied; some years have been better than others. In my younger years, didn’t notice my muscular skeletal problems so much, these symptoms really started to manifest themselves when I was at University.
OHS has taken my life away in some respects. Currently, I’m too ill to work due to overwhelming fatigue and pain. Socialising has decreased due to the condition deteriorating over the years. I normally attend hospital once a week for treatment or other appointments.
Hope for treatments:
As it stands, the condition is not curable. I have regular physiotherapy and hydrotherapy for my muscular skeletal system. I have regular consultations for my heart and kidney as well. I’m hoping that in the future there’ll be a form of medication that might be able to give me more relief for my separate issues that form Occipital Horn Syndrome.
I’ve lived all my life being ill in cycles, so I’m used to it by now. I’d like to think that in the future I might be able to get on more with my life again, but we’ll have to wait and see. I’m thankful for all the help from all the medical teams I’ve been seen by from Great Ormond Street Hospital, Addenbrookes Hospital, University College Hospital London and the Royal National Orthopaedic Hospital, Stanmore.