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The Uphill Battle To Receive A Von Willebrand Disease Diagnosis

I met Jennifer Hastie last year at the Hemophilia Federation of America's Mild Matters Summit in Tulsa, Oklahoma. Along with two of her three daughters, Jennifer has von Willebrand disease (VWD) type 2B, a rare variant. We share more than just a name: Jennifer is also 58 and lives in Florida.

We connected at a recent women's retreat and continued chatting over email. Excerpts of our conversation, lightly edited for clarity, follow.

JL: When were you diagnosed?

JH: I was formally diagnosed at age 56 via genetic testing. My daughters were diagnosed at 5 years old and 18 months old.

What hurdles did you face while seeking a diagnosis?

Getting diagnosed was challenging, to say the least. I saw four hematologists in Tampa before I found one who took me seriously. It was frustrating. My childhood symptoms were similar to those of my daughters. There was no way to prove it, as medical records weren't digital back then, so they had all been destroyed.

As an adult, my oldest daughter saw a nurse practitioner whom I had then been seeing for 20 years. After the nurse practitioner saw my daughter, she asked if I had a bleeding disorder. I told her I had not gotten a diagnosis. She ordered a genetic test for me, and it came back positive for 2B. Not a single hematologist I visited even offered that as a possibility.

Can you tell me more about your experience living with it?

At age 4, I had my first surgery for a hernia. I bled a lot, so the doctor told my parents that I should never take aspirin [aspirin causes bleeding], but my parents never followed up on it.

I had horrific nosebleeds where I bled for hours or even all night. My periods were bad, too. I would go to school and have to be excused to the nurse's office because I bled through my jeans. The nurse told my mother that my bleeding was not normal, but again, nothing was addressed. I certainly used the "tie a sweater or jacket around my waist" to hide the blood many times.

My longest period lasted nearly three months. By the end of it, I was so exhausted I thought I would die. I was anemic much of the time, but I was just put on iron. I tried to comply, but I couldn't stomach the pills.

What is your treatment regimen?

My treatment regimen currently is to "prophy" [short for "prophylaxis," or preventive treatment] with Wilate every five days.

How does it impact your daily life and activities?

I use a cane. My right knee may be ruined. I have neuropathy bilaterally in my lower extremities, which causes a tendency to fall. I live with extreme pain on a daily basis. I cannot fully undo this kind of damage to my body at this late stage. I truly believe that if I had had access to factor earlier in life, I would not be in the physical shape that I am in now.

Prophy has changed my life. Without it, I would literally be in bed with my leg up all day, every day. I underwent a total knee replacement in 2020. It began to heal until physical therapy was introduced. My knee swelled and turned purplish.

The surgeon told me it was hemarthrosis [bleeding into the joint cavity], but my hematologist at the time told him I was fine and that it was just bruised. My current hematologist thinks it had been bleeding in the knee for well over two years by the time I started receiving factor.

What advice would you give to someone newly diagnosed with VWD 2B?

It's hard to say what advice I would give a fellow 2B patient without knowing how they are affected, as it can vary greatly. My two daughters present differently. The youngest has a much worse time than the older one, but they both are symptomatic.

However, if a person bleeds like me, do not give up until you get what you think you need. Take pictures of your injuries and bruises. Send your pictures to your doctor via a portal, which will become part of your record. This evidence not only safeguards you, but it also safeguards your physician.

Do not give up if you feel you are not being heard, and I mean genuinely heard. I seriously had every reason to quit looking for an answer, but do not give in to that overwhelming feeling. You are the one who lives in your body every day, therefore, you are the expert.

There are many great hematologists out there, just keep looking until you find one that will help you. For me, it has not only been life-changing, but it has also been life-affirming. There were many times I wanted to give up on life completely, but something made me push through. Now I'm glad I did.

Thank you, Jennifer!

Note: Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Hemophilia News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to hemophilia.

Hemophilia Patient Receives FDA Approved Gene Therapy Treatment Likely To Eliminate The Need For Preventative Factor Replacement

Cure 4 The Kids Foundation is the First Facility In Nevada To Administer Transformative Therapy

Cure 4 The Kids Foundation

Cure 4 The Kids Foundation is Southern Nevada's only pediatric cancer and rare disease treatment center.

Cure 4 The Kids Foundation

Members of the Cure 4 The Kids Foundation medical team completed Nevada's first successful gene therapy IV infusion for a hemophilia B patient. Pictured L to R: Natalie Sanchez, R.N., Dr. Joe Lasky III, Medical Director; Tamara Saldana, Vice President of Clinical Operations; Giany Beltran, R.N.

LAS VEGAS, July 31, 2024 (GLOBE NEWSWIRE) -- Cure 4 The Kids Foundation (C4K) announced it has completed Nevada's first successful infusion of Hemgenix®, a gene therapy option for adult patients with hemophilia B — a genetic bleeding disorder in which people do not produce a protein needed to create blood clots.

Depending on severity, a hemophilia B patient can require multiple infusions of factor IX on a weekly basis to prevent a bleed. However, after the one-time Hemgenix® infusion, the gene therapy is expected to enable the individual's body to produce their own Factor IX, eliminating weekly infusions.

Under the medical supervision of Dr. Aimee Foord, director of C4K's bleeding and clotting clinic along with Dr. Joseph Lasky, medical director of C4K and the entire C4K medical team, the infusion was completed in C4K's infusion suite.

The patient, a 39-year-old male from Arizona, will be monitored on a regular basis to ensure the treatment's success.

"This treatment is ground-breaking for a number of reasons," said Annette Logan-Parker, chief innovation and advocacy officer at C4K. "Most importantly, Hemgenix® gives the patient a freedom from daily or weekly factor infusions they have not had since their original hemophilia diagnosis. From a larger perspective, being approved to provide this life-changing treatment is another example of how Cure 4 The Kids Foundation is bringing innovation and cutting-edge therapies to the patients of Nevada and the western United States."

Hemgenix® (etranacogene dezaparvovec-drlb) is the first gene therapy for the treatment of adults with hemophilia B who currently use factor IX prophylaxis therapy, or have current or historical life-threatening bleeding, or have repeated, serious spontaneous bleeding episodes. Although Hemgenix® is not a cure for hemophilia B patients, the medical advancement may reduce, if not, eliminate weekly preventative factor replacement and bleeds.

Hemgenix® relies upon a gene transfer that is administered through intravenous (IV) infusion. The approach introduces a "working" or functional gene into liver cells to "instruct them" to produce factor IX protein, which is deficient in patients with hemophilia B, and which helps form blood clots to prevent prolonged, excessive or life-threatening bleeding.

Hemgenix® has the potential to fundamentally transform the treatment paradigm through a single, one-time infusion in people living with hemophilia B by addressing the genetic cause of the condition.

Story continues

Because the genes that cause hemophilia A and B are located on the sex-determining X chromosome, the disorder disproportionately affects males. According to the U.S. Centers for Disease Control and Prevention (CDC), as many as 33,000 males in the United States are living with hemophilia. Hemophilia B is a rarer form of the disorder, found in just 3.7 cases per 100,000 males.

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About Cure 4 The Kids FoundationFounded in Las Vegas in 2007, Cure 4 The Kids Foundation provides high-quality, research-focused medical treatment to children battling cancer and other life-threatening conditions. Cure 4 The Kids Foundation operates the only outpatient childhood cancer treatment center in Nevada and is proudly accredited by The Joint Commission. This stringent medical accreditation and the required unannounced inspections ensure patients are getting the safest care possible. A 501(c)(3) nonprofit organization, Cure 4 The Kids Foundation increases access to specialized treatments that improve patient outcomes. Its Charity Care Program provides high-quality treatment on a sliding-scale basis. No patient is ever turned away for financial reasons. For more information, visit  www.Cure4thekids.Org.

Attachments

CONTACT: Mitch Truswell Cure 4 The Kids Foundation 7025314461 mitch@red7communications.Com

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Petoskey Resident First In State To Receive HEMGENIX Gene Therapy

GREEN BAY, WI — A Petoskey man with hemophilia B is the first patient from Michigan to receive HEMGENIX gene therapy since its approval by the Federal Drug Administration.

Andrew Bartkowiak's gene therapy infusion took place July 31 at the Hemophilia Outreach Center in Green Bay.

He said the treatment gives him some relief and hope for a cure in the future for hemophilia B, a genetic bleeding disorder resulting from missing or insufficient levels of blood clotting Factor IX, a protein needed to produce blood clots to stop bleeding.

Symptoms can include prolonged or heavy bleeding after an injury, surgery, or dental procedure; in severe cases, bleeding episodes can occur spontaneously without a clear cause. Prolonged bleeding episodes can lead to serious complications, such as bleeding into joints, muscles or internal organs including the brain.

Bartkowiak said the treatment provides some relief and hope for a cure in the future.

"With this treatment and the promise of actually feeling even just a little better my hopes and dreams are already starting to become more attainable and desirable as my optimism returns to me," Bartkowiak said. "Better days lie ahead and I can only hope that everyone else in the community feels this same energy soon as we all deserve to live out these good days we might have told ourselves probably wasn't in the cards."

According to Matthew Ryan, MD, the adult hematologist and medical director at Hemophilia Outreach Center, HEMGENIX is an important addition to the current treatment paradigm and a long-awaited advancement for the hemophilia B community.

He said the treatment offers patients a chance to live a life without frequent bleeds or the burden of regular infusions.

"The availability of this new one-time treatment also sparks additional conversations in the community when it comes to treatment options and goals, which is extremely important when managing a life-long condition, as an individual's needs can change for a variety of reasons," Ryan said.

HEMGENIX (etranacogene dezaparvovec) is manufactured by uniQure Inc. And distributed by CSL Behring LLC, and was FDA-approved in November 2022 and is for the treatment of adults with hemophilia B (Factor IX Deficiency) who currently use Factor IX preventative therapy, or have a current or historical life-threatening hemorrhage, or have repeated serious spontaneous bleeding episodes.

HOC advanced practice nurse prescriber Andrea Miller said the chance to give patients more freedom from symptom pain is a positive sign of disease research.

"I'm excited that patients have this new opportunity that will lead to such a better quality of life versus their current prophylaxis treatment," Miller said. "To live a life free from recurrent prophylaxis, not having that anxiety over if they are going to have a bleed or if they have factor with them, not worrying about damage to their joints from breakthrough bleeds, it will be very life-changing for them."

Though HEMGENIX is not a cure for hemophilia B patients, the medical advancement may reduce, if not eliminate weekly preventative factor replacement and bleeds, doctors said.

For more information on HOC and its work, visit www.Hemophiliaoutreach.Org.

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