“My name is Cathy Guthrie. I am 27 years old. I am a qualified lawyer working full-time in an office in Edinburgh; a keen and competitive horse rider; a self-proclaimed adrenaline junkie; a part-time actress; and a general outdoor enthusiast. I also have Maple Syrup Urine Disease (MSUD).
Maple Syrup Urine Disease (or MSUD) is an enzyme deficiency, meaning sufferers cannot break down three of the branched-chain amino acids (or building blocks) that make up protein.
I was lucky enough to be diagnosed with MSUD by amniocentesis. This meant everything could be thought out and planned, and I could be treated from the moment I was born. The doctors knew to test me because my older sister also has MSUD.
That is not to say it’s all been plain sailing. Life has included frequent and often lengthy hospital admissions, nasogastric tubes, many many many tissued IVs, long absences from school, strict dietary management, the odd coma, blood tests, blood tests and some more blood tests…
The management of MSUD involves not only ensuring that protein intake is limited, but that my lifestyle is carefully managed and sufficient calories are ingested. This means taking supplements is necessary. Unfortunately, this means, especially as a child, you are never hungry. And I mean never hungry, to the extent that the thought of eating can make you feel very sick.
I know many families deal with the “not hungry” by opting for the gastrostomy route. There are many advantages to this. Meal times are not an issue or a stress. Nausea’s greatly reduced. It’s much easier to ensure a child gets what they need.
These days, I’m incredibly grateful I wasn’t old enough to make the decision at that stage, and that my mother persevered. I mean in no way to imply those who decide to go down the gastrostomy route are wrong. I simply mean it wouldn’t have been right for me.
The “not hungry” has improved considerably with age, meaning that when I am well and stable, I can enjoy eating.
I’m more grateful to my mother than I can ever hope to express. She fought for us every step of the way. I’m also eternally grateful to the family and friends who joined that fight; learned about the disorder; and have been ready to step in when they have been needed. All these people have cleared my path, which had the potential to be deeply cratered. Of course, there has been the odd speed bump, the occasional road closure and diversion. Mine’s not an “ordinary” journey. But with the help and support of friends, family, colleagues and doctors, it’s one full of excitement, adventure, craziness, laughter and, perhaps most surprisingly, normality.
For those of you with children with an Inherited Metabolic Disorder, I hope I stand as proof that the way forward does not have to be one of defined disability. I know that not every child born with an Inherited Metabolic Disorder can have as good a shot at life as I have been given, whether due to the nature or severity of the disorder, complications, or numerous other factors. But there’s always a chance for fun and freedom, even when the road seems unimaginably tough.
And for those of you who may have an Inherited Metabolic Disorder yourself – be sensible. Always play by the rules of your disorder. Because if you do follow the rules and manage to stay healthy, the sky is the limit!”
If you or someone you know has been diagnosed or is living with MSUD and would like some support with your diagnosis, please get in touch with our Core Services team to see how we can support you. You can reach our Core Services team on 0845 241 2173 or firstname.lastname@example.org
If you also have MSUD and would like to share your story, please contact our Marketing and Fundraising Officer, Maggie, on email@example.com or 0845 241 2173. Sharing your story is invaluable, as it allows others, who have the same diagnosis to come to terms with their diagnosis and to feel less isolated, meaning your story can make a real difference and be an incredible support to those who need it.