Changing Perceptions on Sight Loss in Style
I live with a rare congenital condition called septo-optic dysplasia and this is what it can be like.
Disclaimer: I am not a medical professional, endocrinologist or doctor. Everything I am sharing in this blog post is based on my own personal experience, information I’ve been given by my healthcare providers, and through online research.
Also please note that whilst I’m always happy to share my personal experiences, I cannot give you specific medical advice.
As some of you may or may not know I live with septo-optic dysplasia. I was born with this condition which is a very rare congenital condition that is complex and diverse.
When I was first diagnosed with the illness my mother told me how there was little to no resources available for people with the illness.
Even now there is still very little information on the internet (although that is not to say things haven’t improved).
So I decided it was high time that I started writing more on my own personal, lived experiences of the condition to help anyone who may recently have had a diagnosis or for people who may have a loved one who was recently diagnosed.
Septo-optic dysplasia is a congenital condition that affects the pituitary gland, optic nerves and can cause mid-line brain abnormalities.
Although it doesn’t always necessarily affect all three in each person. It’s a wide spectrum and it can affect different parts of the body
No person is the same who lives with this illness and it varies from person to person.
In my case I have a severe visual impairment due to optic nerve hypoplasia (under development of the optic nerve). This has caused me to have no sight in my right eye and only central vision in my left.
Also as a result of having optic nerve hypoplasia, I also have an eye conditon called nystagmus. Which is a condition that causes the eyes to move involuntarily which can make focusing difficult.
I also have a condition called Hypopituitarism (an underdeveloped pituitary gland).
The pituitary gland is a small pea sized gland located at the back of your brain. this gland is responsible for controlling most of the body’s glands that produce hormones (such as the thyroid gland and adrenal gland). Essentially the pituitary gland tells other glands what to do by sending out signals.
However, in my case my pituitary gland does not work and so certain glands in my body do not receive signals to work.
As a result my body does not produce a number of hormones due to what I like to call “sub-illnesses” that come as a direct result of having the condition.
I have…
Hypothyroidism: Otherwise known as an underactive thyroid this is a condition where the thyroid does not function to produce any thyroxine which is a hormone that help to function many parts of your body’s metabolism which in turn functions your heart, digestion, bones and brain development.
The condition (if untreated) can often make you feel tired, more immune to cold weather, mentally low and in general quite physically and mentally drained. But it can be managed with a medication called levothyroxine.
Secondary Adrenal Insufficiency: This is probably (for me) the most difficult part of the illness. The adrenal glands are a very important in that they help your body respond to stress by producing a hormone called cortisol. This is the hormone that acts as your body’s “alarm system” if you will.
Think of it as a patronus charm for your body. It helps your body to deal with any stressful situation by raising your body’s glucose and helps your body combat any physical damage stress can do.
However in my case, I don’t produce any all because my pituitary gland does not produce the signalling hormone called ACTH which tells the adrenal glands to produce cortisol.
The illness can be managed day by day by taking hydrocortisone tablets which help your body to make up the cortisol it doesn’t naturally produce.
In more serious emergency situations like an injury, sickness or other medical emergencies you may need to be given an emergency hydrocortisone injection which is a much higher dosage to help your body deal with this situation. Other medications may include taking a glucose gel to raise your body’s blood sugar.
It is so important for me to stress that this illness can potentially be life threatening if not treated quickly in an emergency situation. So please always make sure you carry your medical documents with you and have all your medications to hand.
Hypoglycaemia: Otherwise known as low blood sugar, this is because of my adrenal insufficiency and this is usually managed through checking my blood sugar and eating regularly. I also always carry a stash of biscuits in my bag for when I feel like I’m experiencing low blood sugar.
Growth Hormone Deficiency: This is where your body does not naturally produce any growth hormone, this hormone is responsible for growth, development, maintaining bone health and regulating your blood sugars through a hormone called IGF-1.
There is the option to replace the hormone with injections through an artificial drug to replace the growth hormone is not naturally produced.
When I was younger I took a higher dosage to ensure I developed properly (although I still did have some issues which I won’t go into detail).
Now I still take a small dosage as an adult to help regulate my blood sugar, although this is on a case by case basis and has to be monitored regularly.
The condition is incredibly rare, it affects 1 in 10, 000 births according to Great Ormond Street Hospital.
My mother told me when I was first diagnosed she was handed one small pamphlet with only a small amount of information that was very vague.
At the time she was only able to contact and speak to two other families with children who had the same condition as me.
However, both of them were very different in terms of their diagnosis to me and my mum found it very hard to get any idea of what to expect for my future.
As far as I have gathered from research and from what doctors have told me in the past it is not known exactly why people get the illness.
There are some speculations about causes, but it isn’t known for sure.
Research into this is still ongoing.
This illness is not genetic meaning of cannot be passed down to children.
I have been told that it’s highly unlikely of any children I might have having the illness too.
I was born with the illness, but I was officially diagnosed with the illness at 18 moths of age.
The diagnosis process took a while starting at 8 moths when I was first suspected to have some sight loss during my 8 month check.
This involved having MRI Scans, CT scans, eye tests and blood tests before I got a diagnosis.
Firstly, I was diagnosed with having optic nerve hypoplasia from an MRI and CT scan after opthamologists found nothing wrong with my eyes themselves.
Once I was diagnosed with optic nerve hypoplasia doctors then began to conduct further tests such as blood tests and blood profiles to find out which hormones my body was not producing and how my endocrine system maybe being affected.
Not long after I was referred to Great Ormond Street Hospital and Moorfields Eye Hospital for treatment.
I’m still under regular check ups for my health and eyes on a yearly basis.
In terms of the optic nerve hypoplasia the condition is stable and won’t deteriorate. Although my nystagmus can be worsened due to fatigue, illness, stress, low blood sugar and other environmental factors.
With the hypopituitarism and all the health conditions that come with it, they can fluctuate day to day and although you can manage it with medication. Sometimes the illness can make you feel tired, unwell and generally rundown. Especially during the winter months.
Currently there is no known cure for the illness.
In my case, because I was born with the condition I’ve lived with it all my life. So septo-optic dysplasia is my normality and I don’t think I’d want a cure even if there is one.
Because I’ve always been this way and so in my mind there’s nothing wrong. with me. Disability is often only made more difficult because the world we live in isn’t accessible and that’s where many of the issues stem from.
Certain aspects of the condition can either be treated or maintained through medication.
As far as I understand it, the optic nerve hypolasia cannot be treated, the main focus will be on equipping a person with visual aids and giving them vital mobility skills to live with their limited sight.
The hypopituitarism can be managed with hormone replacement therapy to replace the hormones the body does not produce itself. Again these will vary in person to person and nobody will necessarily be on all of the same medications or same doses.
There may also be other additional help and support for people with cognitive and sensory processing disabilities where the conditions affects them in that way. Although this is an area I’m not very familiar with and it’s also worth mentioning that this is a very complex part of the condition in itself.
In addition, you may be recommended to take a Vitamin D supplement as according to my endocrinology nurses people with hypopituitarism have trouble absorbing it naturally.
I personally am on thyroxine to manage my underachieve thyroid, hydrocortisone to artificially replace my cortisol levels, norditropin to replace my growth hormone levels and a Vitamin D supplement.
I also carry an emergency hydrocortisone kit with me everywhere I go.
For people with hypopituitarism there is The Pituitary Foundation. They are a charity that offer resources, medical helpline, advice and support for people with pituitary illnesses.
For people with adrenal insufficiencies there is Addison’s Disease Self Help Group this is a website offering support, information and advice on adrenal insufficiency.
For people with growth hormone deficiencies there is The Magic Foundation which offers support to people and their families living with growth hormone deficiency.
For people living optic nerve hypoplasia there is the Royal National Institute of Blind People which is a good charity to start with. As they can offer you advice through their helpline and access to resources and services either provided by them or other charities.
There is also the Society for Endocrinology that work to promote awareness of endocrine illnesses. They offer resources for patients, healthcare providers, and the general public.
For parents, guardians and family members there is Contact a Family, where you can find other parents and caregivers with children that have the same illness as your child to offer support.
There is also Medic Alert, this is a charity that offer medical jewellery which you can have engraved with specific medical information on them for emergencies.
There are so many more charities, but those are some ideas to get you started.
If you know of any other charities or resoruces to add contact me and I will include them.
For anyone reading this who may have recently been diagnosed or who have someone they love that have been recently diagnosed. I want you to know that you are not alone.
You may feel that way but there are other people who know exactly how you feel and what you are going through.
It can feel very isolating living with this illness because of how rare it is and how little information there still is on it. But my advice to you is to look for people online with this illness and build a connection with them.
Research as much as you can, keep a diary of questions to ask your doctor or specialist, never stop pushing for what you feel you need and always make sure to tell other medical professions everything they need to know about your illness.
Even a lot of medical professionals I deal with haven’t ever come across this illness until me. So make sure they always know everything they need to know from the beginning.
Back when Emily was first diagnosed there wasn’t a lot of information. It was difficult because nobody could offer us any solid information on what Emily’s path would look like. They hadn’t had many cases and they couldn’t guarantee anything. Every case was different and it is very much true.
Nobody we’ve ever met with the illness is the same. It was difficult not knowing down the line where we would be and they had no insight into how unwell Emily could get. But when Emily started to get sick with the illness we realised how in depth and complex it was. When Emily was younger it was a lot more serious, as Emily wasn’t able to regulate her illness herself or tell us how she was feeling. So at times it could be difficult to manage the medical aspect of Emily’s condition.
Let your instinct be your guide, don’t be afraid to advocate for your child’s health if you feel something isn’t right. Stand your ground, because there could be times where medical professions don’t know everything about your child’s condition and it will fall on you to be the advocate for your child.
Emma Davison
I truly hope this blog has helped you even in some small way.
If you have any more suggestions for further blog posts on this illness please do comment with your suggestions.
