Me and my younger sister were born with classic Maple Syrup Urine Disease.  She was diagnosed pre-natally, but I, being the oldest, wasn’t diagnosed until fourteen months.  MSUD is a genetic disorder.  Our parents are both carriers of the mutated MSUD gene, but because they also carry unmutated copies in their bodies they don't have the disorder.  Since we each got both the mutated copies (one from each parent) we don't have this backup and therefore I have MSUD. 

MSUD affects the digestion and utilisation of protein. Protein is a component of food and amino acids are components of protein. Chemicals called enzymes normally assist and facilitate the break down of food.  I lack the enzyme Branched Chain Keto Acid Dehydrogenase (BKAD) and therefore cannot break down three amino acids that are related by a similar structure.  These three are leucine, isoleucine and valine and together are called the branched chain amino acids (BCAA). 

The practical upshot is that my sister and I have to follow a strict diet that is extremely low in natural protein, to stop BCAA building up in my body.  We must also avoid stress, illness, over-exhertion, temperature extremes and over-tiredness, as well as skipping meals or supplements, in order to prevent my body breaking down its own protein for want of calories. 

If the BCAA build up our my bodies, our bodily fluids smell of maple syrup (courtesy of the leucine, I think), hence the name.  This is normally how the diagnosis is made.  Initial symptoms at birth include poor sucking reflex, floppiness interspersed with rigidity, irritability, seizures, vomiting, diarrhoea, coma, apnea and death if not diagnosed and treated.  Most babies who go untreated die within a few weeks, and it is unknown why I survived as long as I did.

Up until 14 months old, I was basically a husk rather than a person.  Once I was diagnosed I made a rapid recovery, going from comatose and epileptic to crude walking in just seven months.  The only possible trace I now carry of my early experiences is different brain wiring, which has resulted in a diagnosis of Asperger syndrome.  Asperger syndrome is the mildest autistic spectrum disorder, and causes me difficulty with expressing and controlling my feelings, as well as making me prone to anxiety, stress and misinterpreting instructions or inferences.  Teamwork for me is only stressful and difficult if people don't perform the duties they are meant to, or if people have no set duties or roles within the team.  I find team sports hard to process and can be clumsy, and I have great difficulty mirroring actions and understanding/following descriptions of locations of things.  I also have a lousy sense of direction.
 
I also have asthma, as does my sister, and can get allergic rhinitis, as does my sister.  My Mum has Graves disease, which is an overactive thyroid disorder.  She has to follow a restricted (but not life-or-death) diet, take carbimazole tablets all the time, and when her thyroid goes wrong her behaviour deteriorates and she becomes hyperactive, owl-eyed and insomniac.  However most of the time she’s ridiculously patient, gentle, modest, cheerful, selfless, direct, wise, persistent, moral and hospitable.  My Dad lives away with his wife and two step kids – but is often in touch.
 
I have many hobbies.  I can ride a horse and occasionally do so, although I am quite nervy.  It is odd that I am nervy, since I also used to have flying lessons in a flex wing micro light (small hang-glider style aircraft).  Occasionally I bike ride, and I am passionate about art.  I love sculpting clay models, painting, creative writing, music composition and drawing cartoons.  When I was younger I got to AB grade 7 on the piano and 4 on the violin.  Just about all my sentient life I have loved acting, touring Lee Hall’s ‘Spoonface Steinberg’ around Highland primary schools and one theatre performance, and I have also been involved in Scottish Youth Theatre, as well as the drama clubs of my schools.  My favourite TV includes the IT Crowd (Maurice Moss just does have Asperger syndrome!), Father Ted, Friends, Black Books, Vicar of Dibley.  My favourite films include Airplane, Hot Shots, Naked Gun, Rabbit Proof Fence, the Invisible Circus.  My favourite books include What Katy Did, The Crowstarver and Ann of Green Gables.
 
Over the last four years I completed a BSc (hons pharmacology) in biological sciences at the University of Edinburgh, gaining a 2.1 and am now job hunting.  I hope in the future to move back home and become semi-self-sufficient, to marry my partner, to spend some time in Orkney, to have my own baby, and to adopt a child with a life limiting, life threatening condition such as Tay Sachs disease, SMA type 1 or a leukodystrophy (though of course I hope more that by the time I am in a position to do this, treatments are found for these diseases!!)