Modified Questions from Invisible Illness Week Sept 13^th-19^th 2010 – completed for MSUD.

1. I was diagnosed with MSUD (Maple Syrup Urine Disease) it in the year: 1989, aged 14 months

2. But I have had symptoms since: birth

3. The biggest adjustment I’ve had to make is: I have never known any different, but my lifestyle is modified.  30g of protein a day maximum (all high protein foods weighed), much less if ill, high calorie diet, taking Maxijul and cooler, avoid all kinds of metabolic stress

4. Most people assume: That for some reason or other my disorder involves Maple syrup!  And also that 20g of a high protein food like cheese or meat is a LOT more than it is, even when I ask for just a TINY bit with a meal.

5. The hardest part about mornings are: Having to eat a good breakfast if I am nervous, and also drinking cooler.

6. My favorite medical TV show is: Born to Be Different, Channel 4 (available on 4oD)

7. A gadget I couldn’t live without is: Digital weighing scales

8. The hardest part about nights are: Going to bed at a reasonable time.

9. Each day I take: 3 pouches of MSUD cooler, one after each meal, half a carton of Maxijul after breakfast

10. Regarding alternative treatments: None except a liver transplant, which I do not consider a suitable option for myself at present.  Researchers are working on it.

11. If I had to choose between an invisible illness or visible I would choose: Invisible, so long as it is manageable.

12. Regarding working and career: If I keep up the high calorie, low protein diet and am organised, I am not significantly restricted.

13. People would be surprised to know: That something as simple as getting stressed out can raise your internal levels of branched chain amino acids (the components of protein that are so poisonous to me), because you use up all your stored energy stressing and have to resort to breaking down your own muscle protein.  Unless remedied with calories this causes neurological symptoms that, if not remedied, can quickly progress to vomiting, seizures, coma and death.

14. The hardest thing to accept has been: That a cure that is both suitable for me and available to me will be unlikely for some years to come.

15. Something I never thought I could do with my illness was: Scottish Youth Theatre’s five week summer festival performance and production course – never mind TWICE.  It involves an hour of intensive work-out, and up to (and sometimes over) eleven and a half hours of intense mental and physical concentration, six days a week.

16. The commercials about my illness: Are nonexistent because it is so rare.

17. Something I really miss doing since I was diagnosed: Nothing!  I have no memory of before I was diagnosed, and I couldn’t do anything anyway before then.

18. It was really hard to have to give up: Well, I’ve not had to give up anything that I remember since my diagnosis, as I was only 14 months old.  But whenever I eat out or order food, I have to give up most of the protein portion, as it’s much too much for me – and that is very hard!

19. A new hobby I have taken up since my diagnosis is: Walking, running, jumping, using my hands, standing, talking, sitting up, holding my own head up, smiling, laughing, socialising, learning, being awake and alert…

20. If I could have one day of eating normally I would: have bacon and sausages for breakfast, a glass of milk for elevenses, roast turkey or chicken for lunch, chocolate ice cream for tea, fish and chips for supper and lots of petit filous for a bedtime snack (and probably get nightmares as a result).  Then I’d try fasting to see what it was like, and then I’d try living off nothing but nutritionally complete milkshakes to see what that was like.  Then I’d try going to a restaurant and order something without having to specify what modifications to make, and that something would involve a milkshake.  And I’ve just realised that’s WAY over a day’s worth…

21. My illness has taught me: Well, it led me to my friends who suffered from leukodystrophy, which taught me a mind-blowing amount about compassion, friendship and reaching out to people, and grew me spiritually in ways I never could ever have dreamed – such as teaching me about God and about heaven and what I want to do with my life, as well as leading me down the path of science and research, and even in some ways growing me as a performer and public speaker, as I have spoken about the leukodystrophies and my own disorder to raise awareness.

22. One thing people say that gets under my skin is: “Are you SURE you don’t want more [insert high protein food]?”  I’d LOVE some more – I just can’t because of my disorder!

23. But I love it when people:  Listen to what I can/can’t/must have, then not only understand it but remember it, and if they are in charge of organising meals or events, they are confident and competent enough to take charge of any modifications needed, especially if they get it right without my input.  Or if I get ill they are confident and competent enough to help me get the treatment I need.  Such things are the rarest and most wonderful surprises when they happen, because the show not only that the person is a good listener, but that they care very deeply about me to not only learn about my condition but be willing to help me ‘fight my corner’ if need be.

 
24. My favorite motto, scripture, quote that gets me through tough times is: I may need time and a separate blog post to tell you that.

25. When someone is diagnosed I’d like to tell them: 1. I’m here for you, and I’ll stay here for you, too. 2. What needs to be learned, and what needs to be done right now? 3. I’m thinking of you and praying for you

26. Something that has surprised me about living with an illness is: How willing most people are to modify things that need to be modified, and how interested they are.  But also how little many people think about what they eat and why they eat it, despite the fact that society at times seems so diet-orientated.

27. The nicest thing someone did for me when I wasn’t feeling well was: My partner has on different occasions 1. taken a complete back-seat 2. figured out what I needed, when I needed it, and provided me with it without me saying anything 3. nagged and then forced me to take proper care of myself 4. done my every bidding quickly, efficiently and quietly when I had to go into hospital.

28. The fact that you read this list makes me feel: In many ways similar to how the scenarios in 23 and 27 make me feel.