What is Rare Disease Day?

“Do people actually celebrate having a rare disease?”

 If you asked yourself this questions, don’t worry, you are not the only one. This is one question most people that are not affected by a rare disease have in mind when thinking of Rare Disease Day “celebration”.

If you think of “celebrating” as the birthday party you attended last week or the winning of the world cup by your favorite sports team then you are totally right to ask this question. Because celebrating a birthday and celebrating Rare Disease Day have as much in common as a sun explosion and a toothpick. I don’t know anyone and for that matter I don’t believe there is a person affected by a rare disease on this planet that celebrates the date they found out they were sick. So, “celebrating” in this context is used more with the meaning of “marking the event” or “making the event count” but that sounds long and boring so “celebrating” will have to do.

 “Celebrating” Rare Disease Day is meant for both people affected and not affected by rare diseases. First and foremost, this event tries to make people more aware of the realities of rare diseases.
People with rare diseases are invisible to our society. This is a fact unfortunately and this is why this event cries out:  “Look at us! We exist! Choose to see us!”
It also tries to inform and correct misconceptions like “people affected by rare diseases are few since rare diseases are…well…rare”.
Last but not least, the event tries to get people involved in finding cures or in improving the quality of life for patients with rare diseases in general.

For people affected by rare diseases, this event exists to create bridges, to help patients connect and understand they are not alone, to break isolation. Isolation is the most frequent phenomenon in families with rare disease children. The pain in so strong and so much that people affected feel they can only survive it by absorbing it and lock  it inside themselves. Either they have their friends and family close or not, isolation will set in and it will become a second nature. Breaking isolation is the hardest thing to do after accepting the reality of the disease. This event tries the help people affected by rare diseases to find their voices again by sharing stories, experiences, even pain.

Concluding, the answer to the question from the beginning of the article is “No”. No one celebrates having a rare disease. What we do celebrate and this event is the best occasion for it, is life and the minuscule victories that we achieve over the disease, no matter how scarce.

Rare Disese Day is celebrated every year on the last day of February and is a EURORDIS initiative. This year, Rare Disease Day is on February 29^th 2016.

Calling your monsters by name

Monsters are always scarier when they are unnamed, unknown, hidden in the shadows. But what happens when you can call them by name? 

It took us a lot of months to find out who our monster is and what is its name. When we finally did, we were devastated thinking of how this monster will affect our baby, of how many opportunities he will miss, of how much of life he will miss. 

That’s the thing about monsters you see, they are scary…But the more you fear, the more you question your decisions, the more paralyzed you get by it, the less you do about it. Fear holds you back and eats at you slowly and deadly.

All of those dreadful scenarios we imagined, all of those things going from bad to worse, all the missed opportunities of life, they all have a probability of happening and I accept that. But I refuse to help the odds of these scenarios by fearing them and by somehow making them self fulfilling. 

Don’t get me wrong, I’m not saying we have a shot of defeating this monster. It would be delusional to rely on miracles but now I don’t fear it anymore and I can go the extra mile. 

Sun Tsu once said that a conquering army should always leave their opponents a way to retreat. That way when put to choose between fighting to the death or saving their lives, they will choose their lives. Otherwise, they will have nothing to lose and fight with devastating force and determination.

The one who taught me this life lesson is the best and the most surprising teacher I have ever had, my son. 

Last week I let him roam around the balcony on his walker. He is active but obviously nothing like the kids his age so I didn’t really take any precautions to hide or lift things from his way. I had just finished cleaning the balcony so the chairs were still on the table. The thought of what could happen didn’t even have time to form in my mind because I heard a scream followed by a cry and I saw him literally running away from the table. 

I ran to him and found him with a mouth full of blood and crying with sobs. Thankfully he had no chipped teeth and no bruises. Just a major scare and a split lip. He apparently reached for the chair that I left, unsuspectingly, on top of the table and dragged it down on top of his walker. 

After I calm him down I started shaking uncontrollably, thinking of what could have happened and, like in an absurd theater play, crying with joy for his achievement. 

It was then that I realized how low my expectation of him were and how these expectations mirrored not his potential but my fears. 

If he has the courage to challenge the odds who am I to hold him back?

Memorable Quotes from Doctors

Eons from now, when my rage, frustration, disappointment, desperation and all that nice set of fulfilling sentiment would have settled a bit I might even consider these funny. Let me know which is your favorite line. Having lived them all, they are all my favorites.

    1.    Make another kid. Who is going to take care of this one when you die?

2.    Aha, so, he has this Syndrome Aaa..lan-Hern..rndon-Dudley, what do you want from me?

3.    Make another kid, I’m sure! I feel it! That it’s going to be healthy.

4.    You are making TWO kinds of physiotherapy? Pff!!You don’t know anything

5.    You are not to open your mouth while in this office!

6.    You should be a Mother, hold your baby in your arms and love him. That is all you need to do, not go around reading on the internet and get ideas.

7.    You are both irresponsible! You should not go around changing doctors! You should stick to YOUR doctor and TRUST him.

8.    Don’t worry, your child is fine! He’s just lazy.

9.    Let’s not make the genetic tests now. Let’s wait maybe he’ll grow out of it.

10.    This is the first case I see of this syndrome and I hope to God I don’t get to see another one in my life.

11.    I had another case of AHDS. He lost contact with the world and died at 9 months old. How old is your son? 

12.    Your baby’s ears are fine, you’re the one who is stressed over nothing and stressing your baby unnecessarily. (12h later we were in the ER, our baby had otitis)

13.    You are not allowed to be in the same room with your child when we are taking blood. You are stressing the nurses.

 This is not a complete list as you might imagine, merely a list I made up off the top of my head.

Hope as a High End Commodity

These past few months have been tough, with ups and downs, mostly downs but this is not what I want to tell you though…

There is this group of parents and relatives of children with AHDS. Of course, the first thing I did was to start asking around, trying to find out as much info as I could. Ok, there is no treatment but maybe there are still ways of improving. I cannot just give up. That is not acceptable in my book.

I was surprised by the lack of interest and ideas in our conversations and started wondering why. I mean… we are all in the same boat. We should work together and try to find solutions for our children. We should brainstorm and push decision makers and DO things.

I first got a glimpse of what’s really happening while I was talking to one of the mothers and she told me that she cannot go through everything all over again. The whole process: hope, lose hope, scrap for the tiniest bit of hope, nurture it, grow it and then lose it again and then again and again…and again.
I saw and understood her point but I couldn’t relate to it. So I gave up trying to find information from other parents and started searching on my own. From physiotherapy techniques to nutrition researches, to drug development research, to drug delivery via nanosystems, to intrathecal implantable systems, I dug through it all, I contacted people; sometimes I asked more questions than I should, sometimes I annoyed people but I kept pushing…hundreds and hundreds of hours of obsessive reading.
And this was how the process went: I would find information of value, get my hopes up, dig some more, find a flaw to the initial idea, and get my hopes even lower than before. And this carousel went on and on and on…

An example: I found a research that was describing a way to bypass the blood-brain barrier. It seems that other researchers have seen value in researching this also. It wasn’t meant for this syndrome but it doesn’t matter. There were people looking and succeeding to do this. I was ecstatic…Started jumping up and down. I made new contacts; got people together talking, maybe pushed a bit here and there, get my hopes up to the roof.

One fine day, I read another research that didn’t even have anything to do with our case. In a “by the way” kind of phrase there was an information that shattered every small piece of hope I could ever try to salvage. Thyroid hormones NEED to pass through the blood-brain barrier in order to reach the part of the brain where they are useful. Through the other ways, even if the hormones bypass the BBB they don’t have access to the part of the brain that needs the thyroid hormones.

In that moment I could literally hear my hopes shatter.

The more you hope, the harder you fall. But then again, hope is the only thing that keeps us going and when you free fall like that, scrapping for the tiniest piece of hope in order to just get you through the day becomes harder every time.
You start thinking that you cannot afford to hope for the best or even for the half best because picking up your pieces after you break takes time and energy and you have neither. You need hope but not more than a little, just enough to get you through the day.

And this is how you start sabotaging yourself and your opportunities to hope for the best again.

Rares’ blood tests came out last week. For the first time ever his indicators were within normal range. You wish you could hope for the best, if only for a short while but you don’t have the strength to pick yourself up again piece by piece…so..you don't.

Now, I’m doing more than just seeing the other mother’s point. I’m living it.