How dark is it on the other side?

On days with spilled coffee, traffic jams or bad cell phone reception - before you bitch about it, think again and be grateful for what you have.

Recently I have come across some personal destinies that are making me sad. 

I donated some money, but I want to do more. I am not a runner, so I won’t participate in a walk. But I write, and this is what I am doing right now, and I hope to raise awareness and maybe even encourage some readers to help.

Meet Mael, Paula and Marisa and learn about their every day life, their struggles, their pleasures.

Mael, a cute little boy

Mael is an adorable 5-year-old Swiss boy who is going to start kindergarten this summer, just like my son. To outsiders, Mael looks just like any other active boy who likes to play with his younger brothers, swim and pony ride. Last month his family took him to South Africa, so his greatest dream could come true: meeting his favorite animal, the zebra. For mom and dad it was a bittersweet experience. They took this trip now because they don’t know how long Mael would able to travel and enjoy this trip, and how long he would be with them at all.

Mael suffers from Niemann Pick Type C, a rare and ultimately fatal genetic disease, which will cause him to lose all of his abilities like walking, talking, eating, and at some point he will most likely die from it at age 10 – 15. More info on Mael's Website and Mael on Facebook

Mael's family

The boy doesn’t know what he has exactly, and he is very brave about doctor’s checks,  attending physical therapy and taking his meds 3 times a day.

Mael is currently on a painfully expensive drug that could help slowing down his symptoms. It is not on the list of healthcare approved medications, so his parents have to file a request with disability insurance every year. Their biggest hope is research as for example a new trial at the National Institut of Health (NIH) in Washinghton D.C. with the promising new drug Cyclodextrin. They are waiting to hear from this study and hope that Mael could take part. Mael would be among the first patients in Europe to benefit from this treatment. However for the time being It’s not clear if they really want to risk possible side effects, and if he will get the chance to be in this trial at all. 

The family tries to enjoy every day with their sunny boy and never give up hope that one day there will be a treatment that could help Mael and other kids with NPC. If you want to help, please support one of the fundraising projects that helps Mael and other children with rare diseases as for example Michel Wenger's upcoming Run for Mael or the charity event at Kindercity Volketswil, hosted by Wirtschaftsmagazin 

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Paula, sweet 17

Paula from New Zealand is one of my “Egg Buddies” on Facebook. 

She suffers from Multiple Sclerosis. MS is a chronic disease that attacks the central nervous system, i.e. the brain, spinal cord and optic nerves. In severe cases the patient becomes paralyzed and/or blind, while in milder cases there may be numbness in the limbs. It has a prevalence that ranges between 2 and 150 per 100,000.

How old were you when you were diagnosed? 
I was diagnosed in 2005 at the age of 48. People who get MS are usually diagnosed between the ages of 20 and 50, although I’ve known for years that there was something wrong. I had my first real symptom when I was in my 20’s, when I woke up one morning and I couldn’t see.  I went to the doctor who sent me to a specialist. I was put on Prednisone and although it only took a few days to come back to normal, it was frightening while it lasted.



What made you go see a doctor?
 I was having problems with my foot. I couldn’t lift it up properly and I kept tripping over. I was also having difficulty typing, my hands were stiff and when I did type, I kept on making mistakes. I felt like there must have been something wrong, but I didn’t know what. I went to the doctor and he said he was going to send a referral to a Neurologist, but he made a mistake. He sent me to a Nephrologist (Kidney Doctor) instead. I think it was probably a good mistake though, because after he examined me, he was so concerned that he sent me straight to the hospital. At the hospital I had an MRI and that is when they found I had MS.

Grandma Paula with baby Nicole

What are the worst symptoms? 
My worst symptoms are foot drop, heat intolerance, fatigue and tremors.  


How do the symptoms affect your everyday life?
 They affect my everyday life because I can’t do as much as I would like to be able to do. My family help as much as they can, but I don’t like letting them do things I should be able to do myself. Also when I try to make fine motor movements I shake badly.

What can you do on a good day?
 On a good day I can walk around a lot more, and do more housework, which for me is good. Most people complain about having to do housework, but not me. It makes me feel useful.
What happens on a bad day?
 On a bad day I can’t walk at all, and my son and daughter have to carry me. That is the most humiliating thing of all. 



Do you feel your current condition is stable? 
I do feel like I’m stable right now, but some days are better than others. If I try to do a lot one day, then I pay for it the next. Also I can’t sit for too long, or stand for too long, I just have to listen to my body, which is not easy for me either.

Is there a drug that is of considerable help?
 I was on a drug trial for Ampyra (Fampridine) a few months ago. It made me feel almost normal again. I was able to stand for longer and I could even walk without help. I can usually walk around the house on my own, but not outside. Fampridine made it so I could walk outside without help too.

Are you still on it?
 No I’m not.

Why not?
 Because it costs $800 NZD (New Zealand Dollars) a month to stay on it, and I can’t afford that. We are waiting for Government funding for it.

Are you on anything else now?
 I’m on 4 – Aminopyridine (4AP).

Does it help?
 I would say that it’s better than not taking anything. I definitely notice a difference if I forget to take a dose, but it’s not as good as the Fampridine was. 


How can we help?
 What we need is a way to raise the funds we need to be able to go on Fampridine again. There are a lot of people in the same boat as me, who would like to stay on Fampridine, but can’t afford it. Fund Fampridine in NZ

Buy this bracelet and donate in favor of  the MS  society

I never hear you complain! I admire that. I am sure it is not easy at all. The way that I look at it is, that there is no point in complaining, I just have to get on with things. I try not to stress out about it, because stress can cause me to have a relapse. I try to stay positive and make the most of each day, that's all I can do. I know that people who have a negative attitude seem to deteriorate a lot faster, and I don't want that.

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Marisa with her niece

Marisa from Minnesota, USA, is another Facebook friend. She was born with spina bifida and has been wheelchair-bound ever since. Spina bifida is a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube.

Growing up, what were your biggest challenges?
Biggest challenges growing up was adapting to people staring at me and figuring out how to get into places that were not necessarily handicap-accessible.

What would you like to tell people who obviously don’t know how to behave around you (staring, making comments)?
I would either stare back at people who are staring at me or I would tell older children not to stare, that it's rude. I tell my nieces and nephew not to stare at people that have disabilities.

Today what chores do you need help with?
I don't really need much help with things around the house except getting the shower head flipped over to be able to use a wand for my hair and having a portable toilet in my bedroom because I can't get into the bathroom.

How easy is it for you to get around in public buildings or shopping areas and restaurants?
It's very easy now to get around in public, most are handicap-accessible now.

I read that spina bifida happens in 1 of 1,000 births, which is quite a lot. Do you know other people? Is there some kind of a community?
I do know another person with spina bifida. Known him since I was like 4. He is a year younger than me. Other than him, I don't think I've met anyone else with that specific condition, but I’ve had many other disabled friends.

How well do you feel taken care of by doctors, insurance companies, the health system in general?
I feel like the insurance industry totally takes advantage of people with disabilities. They assume a certain level of care is needed and they charge based on that and not the individual; drives me NUTS. My premiums do not need to be as high as they've been in the past because I don't need as much care as they would assume. I don't have ongoing medical problems/issues. Doctors also somewhat assume I can't do some things I can like when I get physicals. I surprise them by moving myself more than they think I could.

Did ObamaCare change anything for you? In what sense?
I don't think ObamaCare helped me as of right now. Maybe in the future it will be able to access more healthcare and not rely on the State (which I was on) or Medicare (which I am on now). I could hopefully get private insurance and it's not going to be as expensive as it probably is now.

If people wanted to do anything to help you in any way, what could they do?
As far as help, I think just asking me if I need help is a start. If I need it, I'll tell you, if I don't then leave me alone. I can do it.