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…

I am Angry!

I am angry! I am frustrated! I want to scream from the top of my lungs!

You are probably wondering why that is…and with good reason. Allow me to tell you then.

Have you ever heard of the Allan-Herndon-Dudley Syndrome? No? Neither have I until very recently.
Why do I know it even exists? Not because I really enjoy reading medical bibliography or I’m fascinated with the medical arts but because my baby has been diagnosed with this syndrome. He is 15 months now, a whole life in front of him and yet, not. I know, it sounds like an episode from Doctor House doesn’t it?

When you think of something bad happening you never think that it will happen to YOU. These things happen to other people or in the movies. Not to YOU.

On a scale from 1 to 10 this is a 20 on my worst nightmares list. Maybe you can relate, maybe not. It doesn’t really matter because this article is not for you. It’s for me and for any other parents who might be in a similar situation. Who have searched for months to understand what is wrong with their baby and found nothing and no one to point them in the right direction. Who have been pushed around, put on hold, given false hope or, on the contrary, given no chance at all by doctors; who don’t dare to hope anymore.

This is what we found till now. Allan-Herndon-Dudley Syndrome was one of the first X-link mutations discovered and yet it continues to elude modern medicine due to the fact that there are very few diagnosed cases. I read that there are around 50 families all over the world with less than 200 documented cases. Furthermore, the pool of patients is so small that no pharmaceutical company in its right mind will invest in research and development of a treatment for this syndrome.

This is what they actually know… It is indeed an X-link mutation (Meaning that it is transmitted only from mother to child). From the blood tests point of view, this syndrome shows elevated levels of FT3 and low levels of FT4 with normal THS. Girls are not affected by the syndrome; they might though develop light to medium thyroid problems during their life time but with thyroid problems being so common these days they are not even sure of that. Boys on the other hand have between 25 to 50 % chances of manifesting the syndrome.

Some of the symptoms include hypotonia, under developed muscles, joint deformation and the list can continue. Up until now, doctors believe that AHDS is strictly related to mental retardation. Things have started to change though since there was at least one documented case of a boy (in Italy I think) that had been diagnosed with AHDS but presented no mental delay what so ever. So, at this point we don’t really know what we know.
If you are unfortunate enough to have your kid diagnosed with this syndrome prepare yourself. Since it’s one of the few “virgin” medical subjects left, doctors make queues to “offer” you their professional opinion while looking at your son as if he is juicy experiment waiting to happen, a little lab mouse to be dissected in the name of an illustrious doctorate waiting to be writer.

The syndrome we will fight till the ends of the earth and more but this? How do you fight this?

NOW can you understand my anger? My frustration?
It’s discussing and infuriating to see in a doctor that is supposed to be helping you, to be helping a baby the look of a hungry wolf sniffing its pray with a watery mouth.

Getting back on track …Treatments? There are none till now. There are some medications that have been tested in the States with some success. There is a medical trial for a drug called Traic in Holland, but basically that’s that. The site to find more about this is mct8.info

Don’t even think of going down the slippery slope of stem cells treatments. There are many health centers located in country with questionable to no stem cells laws that will promise you the world and will pray on your desperation with a very well thought sales pitch.  There is no treatment for AHDS that involves stem cells yet and contrary to what everyone tells you, stem cells may have huge and grave side effects. At this point there is only one ongoing research on the subject and it is happening at cedars-sinai.edu.

 

When you realise how much you've changed...

This blog's main subject until now was living in Greece, which I must say, it's still "all Greek to me" to this day even though I've been living here for some years now. The people, the tabu's, the unrealistic obsession with the glorious past, the food(no wait, that is the only thing that makes total sense here), nothing here makes sense to me but then again, you know what? It doesn't really matter that much anymore because now, there is something that I know and understand even less and it's taken the entire spot light. It's called motherhood.
No matter how much you read about it, no matter how many friend advice you receive on the subject, when it actually happens you realize that all you read is basically wasted ink since nothing and no one can prepare you for this.

Every day is like a carousel: laughter, cry, desperation, relief, anger, worry, frustration, fatigue, fatigue, fatigue (no, it's not a typo)  and any other state that you can think of, blend all together in a beautifully unstable time bomb that starts rolling like a snow ball getting bigger and bigger until one moment, when your significant other comes home and asks you: "how was your day, honey?" and then BOOOOOOOM! There goes the snow ball which by then is the size of a mountain and it hits him in the face with the force and speed of a TGV.

Believe it or not this is the happy scenario. The alternative one is the one in which, freakishly obsessed with controlling your reactions you bury the bomb as deep as you can every day. After a few months you are sitting on the deafening ticking of a bomb that would make Little Boy jealous and all it needs is a spark.

You don't ask for help even though you could use all the help in the world because you're sure you can do it and besides you expect the other to notice that you need it, to notice you're struggling, to notice you...to NOTICE. By the time you do ask for help, it doesn't really make any sense to the other one since..well..you've been doing great this far? what changed? why change? ....and that is the spark....

Myriad of emotions break free from their cages and they run wild like rabid animals, thirsty for blood, with teeth and claws as sharp as glass shards. They are all yours, you recognize them, you bread them patiently for months and yet now you have absolutely no control over them. They're taking over. You are under siege and defenseless.

The carnage seems to last for ever. And yet, at some point, the smoke starts clearing and you get a glimpse of the crater that's left both inside you and around you. They are not done yet, they will be haunting you for months but at least they are back in their cages for now. In all this mess, there, behind the ashes of a burning hope there is a pair of eyes looking at you enquiringly.
"Is there something I did, love?"

And here is when desperation kicks in...

The Post Office Adventure

It's not that I didn't have what to write, since life here is an adventure on its own but lately I haven't found the time. Today i got a bit of free time from my new "job" that I'll tell you about some other time so i figured to write to you about my post office adventure since it's still fresh in my mind.


I don't know why but something always happens...maybe i just attract trouble:))
The previous time when i had to send a package, I took the baby in baby wrap and went to the post office. Lots of people there waiting, some more agitated then other, anyway, bottom line, i didn't want to ask permission to get in front so I waited for about 40 minutes. 

When i got almost in front, there was another person between me and the clerk, the clerk sees me and asks me to come forward, in front of the one person left. After 40 minutes of waiting, there was really not much of a difference but still she insisted. 

This fact though started a whole wave of comments behind me, as to why do i get to get in front. The clerk tried to explain that mothers with babies have priority since it's difficult for a small baby to wait that long. Still that didn't seem to make that much sense to the other people waiting, one of them even made a joke saying that the next time he'll come to the post office he'll come with his mother so he'll have priority also. He must have been around 45-50 years old.

And now, for today's adventure at the post office...
This time the baby was in a carriage. The last time I got there with the carriage i got stuck in between the doors because the getting in and out of the post office should be an art..
They have doors as the banks do.. you press a button, get through the first door, close the door, press the second button, get through the second door and the same when you get out with a different set of doors. The ones who made these doors, thought really hard how to make things even more complicated then they are so they made both doors to open on the outside leaving about 30 cm between the doors when the second one is opened. 

Having this in mind and the fact that the guy who helped me get unstuck the last time told me that an easier solution would be to push the  button for discapacitated entry and they will open another door, I did just that. Pushed the button..and pushed...and pushed... 
After about 5 times i started wondering that maybe the post office is, for some reason closed, you should never exclude that as a reason even if the schedule says it should be open. So I squash my nose against the window the way small children do then they want to have a peek. 
Surprisingly, there were clerks inside. Ok, clerks that were trying hard to look very busy while ignoring me waving outside but still, that meant it was open.

At the end of my patience, I started knocking and finally someone, with an annoyed face that was saying "You are bothering me!Press the button already" looked at me. As if i was stupid enough to not understand even that, she yelled at me from the other side of the doors "press the button to get in" I showed her the carriage and she got even more pissed "press the damn button"
"Ok", I though to myself, "maybe she knows something i don't"
I pressed the button, got between the doors and surprise.. the space did not dilate from the last time i was there and i got stuck again.. 
One of the clerks came to help, .. figured she cannot so she told me to go back the same door  ahmm.. no.. guess what.. you can only open it from the out side.. 
She had to go out, open the door for us to get outside again and open the another door that led us inside. Not the discapacitated door though since they've placed a nice big flower in front of it and it couldn't be opened. Who needs doors for discapacitated people anyway?

While inside, she took the envelope i wanted to send, I gave her the money and then she walked away from the desk.
I looked at her a bit puzzled and I asked her for the receipt. She looked at me as if I swerved her of her mother. She had to come ALL the way back, push THREE buttons, PRINT the receipt and give it to me. Pfiu!!Hard work...