Intro

Hello ladies and gentlemen, and thank you for having me. 

My name is Danielle Drachmann.

First off – I want to thank you for this opportunity to address the Parliament with something that matters deeply.

Not just to myself and Yann  but to the millions of families, whose hopes and dreams we have been entrusted to represent here today. 

I hope that they feel we have represented them fairly, with the dignity and justice they deserve.

Opener

But as I stand before you, I can’t help but feel a little scared. I’m terrified that if I say something wrong here today, or I don’t get your attention the right way – I will fail the people who need me the most. The people who, in my estimation – Europe forgot.

So yes – I’m a little anxious. But – as a mother living with sick children, and who for years fought against a rare disease I couldn’t see, it has become a second nature for me, to work while worried or scared.

Section I: Empty seats

The first thing I want to address today are the empty seats around the room. 

My physical presence isn’t the most important one missing from today’s hearing. That honour goes to the patients, families and children busy fighting their daily struggle with rare diseases. 

Do you know where they are?

Let me pull back the curtain and share with you what their world is like, somewhere, in Europe, right now:

• They might be sitting with their backs to the wall in a cold hospital waiting room, waiting for their name to be called, as they hear the squishy sounds of rubber shoes, as nurses and doctors roll sick babies in and out of the surgery ward.
  
  OR
  

• They could be sitting on a bench next to a therapist’s office, tapping their feet, anxious to finally let it all out. 

1. • The therapy sessions they can’t afford
   • The therapy sessions they feel guilty for gambling their savings on.
   • But the therapy sessions they have to go to, so that they can muster the courage to get out of bed and put on a brave face for their child in the morning. 
     
     OR

• It might be too late.They might find themselves bringing flowers to their child’s grave, cursing themselves for being born in Malta where the newborn screening is not checking for as many rare diseases as a country like Italy.

Section II: 1 in 3

Having proper investment and planning in relation to rare diseases matter to me. It matters to Yann, and the families that aren’t here today. Why does it matter? 

Well – here’s one reason. The reason I presented you with 3 stories, is that 72% of rare diseases affect children, and 1 in 3 of these children are going to die from it. 

That example about visiting your child’s grave earlier, that is not the outlier and ultra-rare scenario we like to tell ourselves it is

Not only will we lose these kids, but statistically speaking – they won’t even be here to celebrate their 5th birthday. 

Now –  you might not enjoy the noise, the screaming children and out of tune singing from a 5-year-old’s birthday party, but I can assure you that there’s something worse than that – and that’s the deafening sound of silence.

Section III: Did You Know?

So – that is what we are fighting for. These are the families we hope to do right by today. 

Now that I have your attention, I would like to present some things you might not know about rare diseases:

• 1. Did you know that it takes an average of 7 years for a patient to be diagnosed with a rare disease? 

• • This is unacceptable. 

• • It is unacceptable that 1 in 3 children dies, and the remaining 2 aren’t likely to get diagnosed until 90% through their formative childhood years.

And now, something close to my heart, and my specific rare disease patient community:

• 2. Did you know that due to the extensive medical knowledge required of parents in certain rare disease communities, they are sometimes falsely accused of harming their children?

• • Yes, you heard that right. The skills developed by necessity by some parents of undiagnosed children or children living with rare diseases often perfectly intersect with the warning signs of Münchausen by Proxy.

• • Munchausen By Proxy is a horrible form of abuse and we need to ensure we have better tools and resources available to identify Munchhausen by Proxy in order to protect children from harm, while also protecting families from the rare and undiagnosed patient communities, who are being wrongfully accused.

• • And I assure you, when these accusations are wrongfully made, they cut through a community like a hot knife cuts through snow, fostering a catastrophic level of harm, suspicion and mistrust.

• • Wrongful accusations is not something that is prevalent in all rare communities, but in those that it is prevalent, we need to do better, supporting both the impacted families and the healthcare professionals. 

• 3. Did you know that parents of children with rare diseases sometimes have to lead research efforts alongside their full-time jobs and caregiving responsibilities, not by choice, but out of sheer necessity? 

• • An example is the research done by Ketotic Hypoglycemia International. Like many other patient-driven research projects this work is done by unfunded, overburdened rare disease experts, and overworked moms and dads, brothers and sisters (Including myself).
  • Due to limited data sets, partnerships between affected families and medical experts are crucial. These partnerships and collaborations identify urgent knowledge gaps that even specialized doctors may, and do overlook. Without such partnerships we might as well be fighting fog. 

Unfortunately, these co-created research efforts often go unrecognised, unrewarded and unfunded, despite their critical importance to medical research. 

Section IV: Where To From Here?

So where do we go from here?

In closing, I leave you with just two requests:

• Request 1: Focus.

1. 1. • Focus some of your attention, funding and influence towards helping us improve early diagnosis and expand newborn screenings across the EU, so our children will get an equal chance of living, no matter where in the EU they are born.

• Request 2: Invest. 

1. • Invest in the needed infrastructure to support co-created health research and patient-doctor partnerships on a European level. Both in the hospitals and within the organizations whose insights might help to unlock the solution related to the management of their rare disease, or even finding a cure. 

We have carried the unfunded research burden this far, but there’s only so much that can be done without substantial access to funding and resources.

As lawmakers of this union, I hope you will carry the torch from here. 

We have brought our cause to your chambers today, with facts, datapoints, personal experiences and a lot of shared passion to protect these most vulnerable of our citizens. 

Section V: We Need Your Help

We are grateful to be heard. 

BUT. 

Ultimately, none of this will mean a thing if we can’t translate today’s presentations into actionable legislation and policy. 

United we have the power to change the world for the rare disease families in the EU, but it takes collective efforts, and I hope that you are all ready to take up that responsibility.

As we conclude, Yann and I can only hope that stakeholders and decision makers on the other end of this call choose to take action, so that we can stop burying our children, tearing our communities apart and suffer in silence. 

Thank you.