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PATIENT FOCUS

Transcript

Jennie: Joe and I are Adelyn's parents and Adelyn has been diagnosed with hypophosphatasia.

Jennie: When I found out we were pregnant with our third child, I had always said, "It doesn't matter what it is, as long as it's healthy."

Jennie: And then Adelyn was born and she was very unhealthy. And that was hard to explain to a six-year old and a three-year old. And they didn't understand the journey that we would now be on. And neither did I, actually. I don't think I fully understood the journey we would be on

Joe: When she took her first breath, her lung just...I mean, her whole chest cavity collapsed. So right there, it's very apparent. The doctors, you could see fear. I could see fear in my nurses' eyes. They didn't know what they were looking at.

Joe: She was blue in color. Her limbs were going the wrong way. And it was just really terrifying.

Jennie: I heard Joe say, "What's wrong with her legs?" And that was probably one of the scariest things I've ever heard.

Joe: And then having to look at my wife and kind of tell her, "We'll be okay and everything's okay." And she knew. She knew from the look on my face that nothing was okay. And when they took her away, it was just heartbreaking. Am I going to see her again? Am I going to know? What happened? What is wrong with my child?

Joe: when they came back and said, "We took x-rays. It doesn't look good. We don't know what we're looking at, but it doesn't look good." I asked, "Can I see the x-rays, please?" And it looked like a jigsaw puzzle with all the pieces missing, just one here, one there, just interspersed. So when you look at that it's like, "Oh, my God. What is this?"

Jennie: they didn't want to give us too many answers right away because they didn't have the answers. They were very unsure. So they said hypophosphatasia, they said osteogenesis imperfecta, and they said a type of dwarfism. And for a few days they were kind of tossing around those ideas and no one was for sure. They did believe that it was a genetic disorder so they did call in genetics and

Jennie: they were convinced that it was hypophosphatasia.

Joe: I remember him saying, "It's a rare genetic disorder that you were both carriers. And it's such a small population that there's very little known. And that her bones will be weaker going forward in life. That they're disfigured. That's a significant sign of it. That her lung capacity is next to nothing because her rib bones weren't strong enough to support the weight of her lungs," and things of that nature.

He told me that it all revolves around an enzyme and that they're missing the enzyme. And that causes a halt in the calcification.

Jennie: It was the neonatologist approached us and told us about the clinical trial

Jennie: We didn't have to think twice about it. It was really there was no other option for her. It was either the trial or keep her comfortable and she wouldn't survive. And that wasn't an option for us. So we just moved forward as soon as we heard about the trial

Joe: And after a couple months we realized that, okay, she can make it. She can live. She's a fighter and she just keeps getting stronger.

Jennie: Although it's been hard and although she has a rare disease that we still don't know a lot about, she has this therapy that helps her and has allowed her to become a nine-month old baby

Joe: I still remember the first time we brought her on a walk outside. That we were pushing her in her stroller and a bird flew right by her face and she just thought it was the coolest thing, crazy, like, "Oh." And that's how I feel like she looks at life. It's just every day is amazing to her. Everything just brings joy to her and to be able to live a little bit through her eyes with that, it brightens my outlook on life and the world.

Joe: The first time I held Adelyn, I was scared, extremely scared that I might break a bone, that she might wiggle the wrong way. When I hold Adelyn now, it's like holding the sun, a ball of warmth. That she just looks at you and warms your heart. And her constant and ever going curiosity, she wants to touch and grab everything. She lives so in the moment that it shows you you need to live in the moment. And it's an amazing feeling, like with any child.

And with her, it's even more special because I think, while I'm looking at her, that, "You're amazing. You're a miracle. You probably shouldn't be with us, but here you sit, smiling hugely at me and making my life better each day."

Jennie: We've made it through all of this and it gives me hope for the future that we will be okay, and that our family will be okay, and our children will be okay, and we can make it through anything if we've gotten through all of this.

Meet Adelyn, diagnosed with HPP at 2 days old

Many patients and families faced with the challenges of a rare or ultra-rare disease live with little hope, have limited or no treatment options, and face a shortened life-span. Every day, we strive to transform the lives of patients with severe and life-threatening rare diseases.

Meet More Patients

 

Ultra-Rare Diseases

The impact of ultra-rare diseases on patients, their families, and society is profound as many are severe, chronic and progressive, with high mortality rates.

Ultra-rare diseases often present unique public health challenges. Very few physicians are familiar with diagnosing and treating these conditions, leading to missed, delayed, or inaccurate diagnosis and thereby delaying treatment, even when an approved, effective therapy is available.

When developing treatments for patients with rare and ultra-rare diseases, often there are no pre-existing regulatory pathways or prior controlled studies. Alexion is one of the few companies in this field with a proven track record in drug discovery, regulatory affairs, clinical trial design and recruitment, and manufacturing.

 

Access to therapies

Alexion is committed to patients having access to our medicines. We work with private healthcare organizations, policymakers and governments around the world so that patients with rare and devastating diseases have access to the therapies they need. Learn more about Alexion's Global Access to Medicines Policy.

Transcript

Dawn Dokla, R.N., OneSourceTM Nurse Case Manager: The primary goals of the nurses in OneSource are to provide education to our patients, our physicians, and the payers. My job is being an advocate for the patients that have been diagnosed with devastating diseases. We work with them to make sure that they have someone that they can talk to while they're going through any issues with their treatment. Here at Alexion, it truly is the driving force behind everything that everyone does; every day is for our patients.

Dawn Dokla, R.N., OneSource™ Nurse Case Manager

OneSourceTM Program

As part of our commitment to the PNH and aHUS communities in the United States and Canada, and to the HPP and LAL-D communities in the United States, Alexion offers OneSource™, a personalized program that provides education, assistance with access, and treatment support for patients and their caregivers.

 

OneSource is staffed by Alexion Nurse Case Managers, all of whom are registered nurses with extensive clinical experience.

A Nurse Case Manager is assigned to each patient and his or her healthcare team to help coordinate care and provide information about reimbursement.

OneSource is available to patients at no cost. Contact OneSourceTM at 1‑888‑765‑4747.

 

Advocacy Partners

Alexion partners with patient advocacy organizations to address the diverse needs of patients around the world.

View Our Global Partners

References

  1. World Health Organization. Diabetes Fact Sheet. http://www.who.int/mediacentre/factsheets/fs312/en/index.html. Reviewed June 2016.
  2. United States Census Bureau. U.S. and World Population Clock. http://www.census.gov/main/www/popclock.html.
  3. US Food and Drug Administration. Definition of Disease Prevalence for Therapies Qualifying Under Orphan Drug Act. http://www.ecfr.gov/cgi-bin/retrieveECFR?gp=&SID=91b7be5e87481538e33a4c0a76ba7183&n=21y5.0.1.1.6.3&r=SUBPART&ty=HTML.
  4. Regulation (EU) No 536/2014 of the European Parliament and of the Council of 16 April 2014 on clinical trials on medicinal products for human use, and repealing Directive 2001/20/EC. EUR-Lex website. http://eur-lex.europa.eu/legal-content/EN/TXT/PDF/?uri=CELEX:32014R0536&qid=1421232837997&from=EN.