Some Lessons Learned the Hard Way

People say that the best way to learn is from other people’s mistakes. I must admit I was never able to do that. Unless I bump my head on the problem and feel my forehead hurt I can’t really understand the dimension of the problem, nor the way to solve it. So here are some problems that I bumped my head into during this last couple of years. Some, I must admit, left a mark. Some are so fresh they are still hurting. And some...well some it would have been nice to have been able to learn them from someone else...

Stand your ground!
 Here is the understatement of the day: “Being a special needs parent is never easy”. Yes it’s not, it’s damn straight hard. Sometimes you are so tired you feel you are burning energy directly from your soul, the only “power supply” left. You keep going because this is what needs to be done, because your child needs you and because you love him/her more than you love life. Here is the thing though about having a special needs child: Problems never end! You always need to be in standby, you always need to be prepared, and this continue surge of energy is draining you.  Don’t let it! Make being prepared a state of mind not a state of restlessness.  You will never be able to do anything but survive the day unless you get a hold on the ground beneath your feet.

Get rid of unnecessary emotional baggage. Yes it’s hard to make peace with the idea that your child was the unlucky winner of a genetic death sentence and it’s even harder to accept the fact that there is nothing you can do about it. But carrying that emotional weight after you day in and day out will not help anyone, least of all your child. Accept it and move on!

Start controlling things instead of letting things control you. Every institution we’ve met in regards to my son until now has based its reaction on the fact that we have too much on our plate and we won’t have the energy or the courage to go against them, that we will accept how things are because… “That’s how things are”, that we will complain about it to our friends and family, victimize ourselves for a while, get a couple of sympathetic shoulders to cry on and move on.  I am a firm believer that you should change what you can change and accept what you can’t change but this situation does not, under any circumstances, fall in the accepting category. This needs to be fought with a vengeance.
There are 30 million people living with rare diseases in the EU alone. That is almost half the population of France.  Can you even imagine the impact 30 million voices could have?
Everyone counts on special needs parents and patients to be quiet, compliant and retreated in their words. The best thing you can do is prove them wrong.

Don’t expect others to make the change you need.
Gandhi said it better and obviously more inspirational than me: “Be the change you want to see in the world”. I’m telling it as I see it. If you expect others to make the change you need, you’ll be waiting for a very long time. The system will not change easily and no one else, except yourself, will go the extra mile for you. I’m not being bitter, just harshly realistic.
So stop waiting around for decision makers, doctors, insurance companies or health care providers. I know you feel that after everything you’re going through you deserve some help, you deserve a break and you are right but the one person who can help you the most is you.

Don’t judge others by how bad your day was. Be sure that if you were to compare fairly, your best day would probably be anyone’s worse nightmare. You have a complicated and hard life. This is why, comparing others problems with your own is never helpful. Yes all those problems seem small and insignificant to you, yes they might have no long term impact like your problems do (You cannot compare spilling your coffee on your favorite shirt to your child’s unexplainable spasms that not even the doctors can explain) but you should not look down on “normal” people’s problems. You were a “normal” person once. It’s no one’s fault that you were upgraded to special needs parenting.

Don’t demand help, appreciate it! A helping hand, a smile, a good word… appreciate them. Don’t consider that you deserve everyone’s time, love and affection because of your situation. Be grateful when people chose to get involved and help you in any way they can even though they might have other things to do.

Trust your judgment. Read, research, ask, talk to specialists, therapists, doctors anyone you think will help you get a different perspective on things but in the end use that information to make your own decision. 

…and last but not least…

Never let go of hope! It’s not always easy to keep hoping when life hits you this hard but you should never let go of it. Hope gives you strength you never knew you had.

“Your Child Is Too Young to Walk”

Thessaloniki, 12^th of April 2016. Today we were called to meet the official committee in order to evaluate Andreas-Rares’ special needs so that we may obtain some form of support from the state to help with his therapies because, at this moment, everything we do for him is exclusively on our money and the money from your donations.

The meeting with the committee lasted less than 5 minutes time in which none of the three members examined Andreas-Rares in any way. They asked if he is walking, the answer was obviously “no”; if he is sitting unassisted and again the answer was “no”. And then, without looking over the pile of documentation and medical papers that we provided and without asking any more details, they reached their their final assessment: 

“Your child is too young to walk. Come back in two years.“

We are definitely going to make an appeal. Unfortunately that is going to take time, time equals expenses so we can just say that we are running out of...time.

Even though I promised I will not allow myself to get dragged into that anger swirl that tormented me for months I think today is that special day for a major relapse!

Scratching the Surface on Clinical Trials

I decided to write this article because I feel the need of sharing what I’ve learned so far about clinical trials so that other patients who are in the position of taking part in a trial may know a bit more and may take better informed decisions.

I hope this article reaches those people who feel they are standing on the edge of a cliff making a life altering decision, having the sentiment of no one being on their side.

First things you should know about medical trials is that “it’s not about you”. The quicker you understand this, the easier it will be to adjust your expectations regarding the trial. We are used to create bonds with our doctors because we know their first priority is to treat us, their patients. In clinical trials the goal is to obtain new medical data, preferably the kind of data that can be generalized. Read this and understand it well. Don’t get into a medical trial having the wrong expectations. You already have enough on your plate as it is.

As a patient, you need to be informed about what will happen during the trial. You need to take an informed decision so ASK anything you are unsure of, anything you feel you might want to know. Before you start a medical trial you will need to give your Informed Consent. This is a document that should answer most of your questions and should be written in terms you can easily understand. My advice, take a piece of paper and write down all the questions that rise from that document so you can discuss  them to your doctor the next time you meet. 

Know that just because you gave your consent it doesn’t mean you are no longer allowed to ask questions or the doctor is not obliged to answer them. You can and should ask any question you consider relevant at any point in the trial. Some questions will rise during the trial so there would be no way for you to foresee them.
Trials are free. If a doctor asks you for money in order to join a trial, something is fishy either with the doctor or with the trial. You can verify the existence of the trial here: https://clinicaltrials.gov. If it’s not here it doesn’t exist.
If a doctor asks you to sign a paper assuming responsibility for whatever happens within the trial, know that, apart from the fact that it’s unethical, it’s also very much illegal so the paper is void. Even though you give your informed consent the researchers are still the ones who are responsible for your well being. There is also an ethical board you can denounce the doctor to.
There are some principles that every trial should abide. To know them means to know your rights and to be able to defend them.

Beneficence or non Maleficence – what it means is that a doctor should do well or, at least, do no harm. Translated into trial reality this means for example that if a treatment exists for a disease, the researchers are not allowed to give placebos in a trial for a new drug. They are bound by ethic rules to give patients from the control group the treatment that already exists.

Autonomy – This means that the free choice of the patient to participate or not in a trial needs to be respected no matter what. For the patient this means that he/she needs to be very well informed in order to: 1.  not lose the opportunity of participating in a trial that may change his/her life or 2. on the contrary, to participate for the wrong reasons/expectations.  There is a special chapter in this section dealing with coercion. The decision, which ever it would be, needs to be based only on arguments and information. Offers or insinuations of offers regarding money, better life conditions during the trial, psychological pressure or any kind of pressure for that matter should not exist.

Distributive justice – In clinical trials it refers to the fact that the constraints as well as the potential benefits that rise from the research should be fairly distributed among the participants in the trial.

For further reading click here

Ok, so you can ask ANYTHING but there are so many things you don’t know that you don’t even know where to start. Here is a list of questions you might want to start with.

 - What is being studied?
 - Why do researchers believe the intervention being tested might be effective? Why might it not be effective? Has it been tested before?
 - What are the possible interventions that I might receive during the trial?
 - How will it be determined which interventions I receive (for example, by chance)?
 - Who will know which intervention I receive during the trial? Will I know? Will members of the research team know?
  How do the possible risks, side effects, and benefits of this trial compare with those of my current treatment?
 - What will I have to do?

See the full list here.

Other information that the investigators may inform the participants about include:
- the trial’s place in the scientific study (Phase I, II, III)
- the endpoints of the study
- the anticipated benefits
- the scheme of the study (controlled/not controlled, blinding/not blinding/double blinding)
- potential risks.

One other thing that it’s important to know: When you ask a question be ready for the answer. Probably some answers won’t be pretty, like the ones related to potential side effects and risks. Make sure that you understand and weight them well in your decision. Researchers will not put you in harm’s way just for the fun of it. Human research is done only when there is no alternative. But risks do exist end you need to make sure you have assumed them when you are moving forward with a trial.

One last thing…The trial will be uncharted territory for you so don’t take anything for granted. Be sharp, be vigilant because in the end you are the only one representing your own interest in a medical trial.

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.