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.

Professional Gene Smuggler Wanted

You are probably asking yourself what kind of job this is. Well, wonder no more, for it is a job I invented to try and explain what AHDS (Allan-Herndon-Dudley Syndrome) is all about. 
I tried to do that in a funny and accessible way so that maybe people will share the message more. I hope that even people who don't find it interesting as a cause may find it funny enough to share and the other way around. I'm trying to get the word out and make people aware of this syndrome. Maybe somewhere there is a brilliant mind that may come up with a solution for this problem, a Cure for AHDS (Allan-Herndon-Dudley Syndrome).
Thank you for reading this. I would really appreciate it if you could share this message. 

I am angry II - Things keep getting better and better...

As I was telling you before, there is a medical trial going on in Rotterdam for an experimental drug that could/might be used to treat AHDS. On the other hand it may just prove to have serious side effects or long term back fire and it may be considered unsuited for treatment but then again that is why this is a trial, an experiment.

We considered the pluses and minuses of this experiment and we decided to apply. If there is even the slightest chance of this drug working it would still be more than doing nothing and accepting the situation.

And so, we give the “go” to the neurologist who is our connection with the hospital in Holland. And we wait…and we wait…. At some point I talk to the neurologist and she tells me that she will try to bring the trial in Romania since we are not the only patient. There is another boy in her care with the same condition. And we think to ourselves: “Finally a bit of help and understanding from someone.” The financial effort will be smaller plus we’ll be home not in a foreign country. Boy were we wrong…

Since a few good weeks have passed from our last conversation, the other day I’m calling the neurologist to ask her how is the process of registration with the authorities going, how much time will it still take, if we need to purchase plane tickets and so on. You see, every month that passes, every week, Rares’ brain develops without a main ingredient (let’s call it). If the motor skills may be worked on later, the brain development from now will have a big impact in the future so…tic!tac!tic!tac!

And so I find that even though she applied, the main program provides no budget for the secondary location trials. I also find that there is a fee that the state requires to even look at the research proposal that is also not covered by the nonexistent budget. No, no, the papers are not ready yet but we need to consider the expense. Also, there needs to be a mal praxis insurance since it’s all experimental and that will be “quite expensive” since they covered in there “crazy” things like baby dyeing or having severe allergic reactions. But that’s not all, I also find that the “other” family is “from the country” and they cannot afford the expenses and it would be good if we could cover as much expenses as possible for both.

I heard rumors about this concept but I never came face to face with it until now. So it seems that because you are living outside of the country you are by default rich. Did you know that? You could be rich also and not know it.
You don’t even have to do anything, it just happens when you pass the borders to move in a different country. PUFF! It’s magic, you instantaneously become rich. Or at least that’s what some people believe.

Don’t get me wrong, I feel sorry for the other kid and I would help if I could. But I cannot. And I most certainly don’t appreciate being set up.

Bottom line, now we’re stuck with some expenses that are not ours and we don’t even know their final value and with the time ticking over our heads. 

I think now is a good time to panic…