Things People With Hemophilia and Bleeding Disorders Wish You Understood

Melissa McGlensey

Hemophilia is a rare condition where a person’s blood has a reduced ability to clot. About 400,000 people worldwide are living with hemophilia, and 400 babies are born with it each year, according to the Hemophilia Federation of America.

Perhaps because they are rare, hemophilia and bleeding disorders are often misunderstood conditions. With that in mind, The Mighty worked with two organizations, the Hemophilia Federation of America and Stop The Bleeding, to find out what people with the condition wish the world could understand.

This is what they had to say:

1. “Bleeding disorders are confounding and annoying when they act up. You can have months of no trouble, and then suddenly look as if you’re trying to avoid every outing, get together and birthday party… But I promise, it’s not personal.” — Carri Nease

2.“Hemophilia and incest are not related in any way… Also, we won’t bleed to death from a paper cut.” — Jeff Johnson

3. “We know our disease and conditions better than the average doctor does.” — Karen Guertin

4. “It’s more common than you think.” — Deana J Woods

5. “If my son falls off a tree, he will need treatment… but the most important thing is that he still gets to climb trees.” — Jennifer Empson

6. “Although hemophilia is often known as the ‘royal disease,’ it doesn’t mean everyone living with it is directly related to royalty.” — Rich Pezzillo

7. “Many of us in the community are willing to discuss our condition, and it does not prevent us from contributing to our communities.” — Donald Robert Fox

8. “It’s not only a male disease. I am a woman who is affected by the condition, along with two sons and a daughter.” — Yashica Washington

9. “As a mom, I’m trying to let my baby be a ‘normal,’ active 2-year-old. However, if I seem to be on edge, it’s because every time he runs, jumps, falls or hits something, I get that gut-wrenching feeling — the feeling right before a car wreck.” — Brandi Alsip

10. “I love the question, ‘You still have that?'” —  David Melendez

11. “Our kids have bruises because they have a chronic disorder and not because they’re being beaten.” — William Wilson

12. “No, your child cannot ‘catch it’ from my son.” — Gina Morris

13. “Just because you don’t see it doesn’t mean it’s not happening. And, it can be painful.” — Misty King Woodhall

14. “It’s different than necrophilia. (True story — I actually had to clarify this to a poor soul.)” — Rachel Miller Kroouze

15. “No, my boys won’t grow out of it.” — Theresa Laureen

16. “I don’t fake my injuries nor do I milk the fact that I’m hurt. I am as normal as the next person and only wish to be treated as such… I do not want pity.” — Justin Wallace

17. “We have some of the best people in our community. We can do anything together.” — Luke Vannicola

18. “You have to be prepared for an emergency at all times.” — Katie Hoagberg Masog

19. “My son doesn’t need to be bubblewrapped nor treated differently than my other son… don’t be scared.” — Samantha Francesca Costa

20. “That the impact of a bleeding disorder is so much more than the disorder itself and its physical complications. The impact is also emotional, psychological, educational, financial and relational.” — Rebecca Nastasia

21. “It is hard to live with, and you cannot just take a pill to make it go away.” — Theresa Schuman

22. “Having hemophilia does not automatically prevent you from being active. It’s actually good for hemophilia patients to be active. Being active gains muscles, which protects joints, which helps [prevent] bleeds.” — Christy Reyes

23. “I’ve lived with ‘significant’ pain most of my life, and I’ve learned to manage it. Having a bleeding disorder doesn’t weaken me, it toughens me.” — Patrick James Lynch

24. “Hemophilia isn’t being in a wheelchair, but it’s also not being immune to wheelchairs. It’s a complicated disorder that can randomly determine what life is like. One week can be spent resting in bed and using wheelchairs. Another can be running around playing soccer. I wish people understood that because it’s difficult to explain to strangers in chance encounters.” — Mark Kenny 

25. “It may have conquered my body but it shall not have my soul or my mind. Those remain mine.” — Marcus Lamarr Smith II

Inheritance Pattern of Hemophilia

source:http://www.hemophiliafed.org/bleeding-disorders/hemophilia/inheritance/

The following diagrams show how the hemophilia gene can be inherited. It is important to note that in one-third of people with hemophilia, there is no family history of the disorder.

Mother is a carrier

• 50% chance that each son will have hemophilia.
• 50% chance that each daughter will be a carrier of the hemophilia gene.

Father has hemophilia

• All daughters will carry the hemophilia gene.
• No sons will have hemophilia.

Mother is a carrier AND
Father has hemophilia

• 50% chance that each son will have hemophilia.
• 50% chance that each daughter will be a carrier of the hemophilia gene.
• 50% chance that each daughter will have hemophilia.

Genetics

The X and Y chromosomes are called sex chromosomes. The gene for hemophilia is carried on the X chromosome. Hemophilia is inherited in an X-linked recessive manner.  Females inherit two X chromosomes, one from their mother and one from their father (XX). Males inherit an X chromosome from their mother and a Y chromosome from their father (XY). That means if a son inherits an X chromosome carrying hemophilia from his mother, he will have hemophilia. It also means that fathers cannot pass hemophilia on to their sons.

But because daughters have two X chromosomes, even if they inherit the hemophilia gene from their mother, most likely they will inherit a healthy X chromosome from their father and not have hemophilia. A daughter who inherits an X chromosome that contains the gene for hemophilia is called a carrier. She can pass the gene on to her children. Hemophilia can occur in daughters, but is rare.

For a female carrier, there are four possible outcomes for each pregnancy:

1. A girl who is not a carrier
2. A girl who is a carrier
3. A boy without hemophilia
4. A boy with hemophilia

Severity

(percentage breakdown of overall hemophilia population by severity)

• Severe (factor levels less than 1%) represent approximately 60% of cases
• Moderate (factor levels of 1-5%) represent approximately 15% of cases
• Mild (factor levels of 6%-30%) represent approximately 25% of cases 

2 New Findings Offer Hope for Those With Severe Hemophilia

WEDNESDAY, May 25, 2016 (HealthDay News) -- Two new studies could pave the way to major changes in how doctors treat severe cases of hemophilia -- a rare genetic disorder that can cause uncontrolled bleeding.

Both studies tackle a key challenge: Up to one-third of children with severe hemophilia develop antibodies against the standard therapy.

But one study highlights the value of an old therapy, while the other shows promising early results with an experimental drug.

Experts said both should stir discussion among doctors, patients and parents who deal with hemophilia. But they were especially hopeful about the new drug, known as emicizumab.

In the United States, about 20,000 people -- mostly boys and men -- are living with hemophilia, according to the U.S. Centers for Disease Control and Prevention.

The disorder is caused by a defect in one of the genes that controls proteins needed for normal blood clotting. Most people have hemophilia A, which means they lack a protein called factor VIII. In severe cases, they have little to no factor VIII in their blood.

The standard treatment is to replace the protein through intravenous infusions done at home.

Years ago, that replacement protein came exclusively from donor blood. "That worked well until the 1980s and the HIV epidemic," said Dr. Christopher Walsh, director of the hemophilia program at Mount Sinai Hospital, in New York City.

Between the late 1970s and mid-1980s, half of Americans with hemophilia became infected with HIV through contaminated blood products, according to the National Hemophilia Foundation.

That led to the development of genetically engineered "recombinant" factor VIII.

In the United States and other wealthy countries, most patients receive recombinant factor VIII, Walsh said.

In general, the therapy works well, he noted. But a major problem is that some children develop antibodies against the replacement factor VIII soon after they begin treatment.

One question has been whether the source of the factor VIII -- donor blood or DNA technology -- makes a difference, explained Dr. Donna DiMichele, of the U.S. National Heart, Lung, and Blood Institute.

One of the new studies was designed to answer that question, said DiMichele, who wrote an editorial published with the findings.

An international team of researchers randomly assigned 264 young children newly diagnosed with severe hemophilia to start replacement therapy with either blood-derived or recombinant factor VIII.

Overall, 37 percent of children on the recombinant therapy developed antibodies. That compared with 23 percent of kids on blood-based therapy.

Lead researcher Dr. Flora Peyvandi said the findings suggest blood-derived factor VIII is the "better choice" for children beginning therapy.

The findings do not apply to patients who've been on therapy for a while, according to Peyvandi, of the University of Milan, in Italy.

If a child is going to develop antibodies, that usually happens within the first 50 infusions, she explained.

But Walsh and DiMichele expressed doubts about whether blood-derived factor VIII is better for children just beginning therapy.

For one, DiMichele said, the risk of developing antibodies might be lower, but it's still significant.

Walsh agreed, and also pointed to safety concerns.

The blood supply is thoroughly tested, and considered very low-risk. "But," Walsh said, "anytime a 'new' virus comes out that could be spread through blood transfusions -- like the Zika virus -- patients worry. You're always looking over your shoulder."

He and DiMichele both predicted that doctors will vary in their opinions, and their advice to patients.

Meanwhile, the emicizumab study suggests an entirely different solution to the antibody problem, Walsh said.

The drug is a lab-generated antibody that "mimics" the form of factor VIII, which allows it to do the protein's job. It's designed, in part, to get around the problem of factor VIII antibodies.

DiMichele called the drug "ingenious."

"The fact that they could even do this is remarkable," she said.

The new trial tested the drug in just 18 patients with severe hemophilia. But over three months, 72 percent had no bleeding episodes. And it was just as effective in patients who'd developed antibodies to factor VIII as those who were antibody-free.

The study was sponsored by Japanese drug maker Chugai Pharmaceutical, one of the companies developing emicizumab. Larger trials are underway, according to the company.

Emicizumab is easier to take than factor VIII replacement. It requires one weekly injection, versus several IV infusions per week. Young children on factor VIII often need a catheter device implanted under the skin to allow the frequent infusions.

The new findings "should be very exciting for patients and parents," DiMichele said. "But we still need much more information."

Researchers need to show the drug is effective and safe in the longer term, she said. It's also unclear whether it not only prevents bleeding episodes, but treats them when they do happen -- as factor VIII replacement can.

"Does this represent a sea change?" Walsh said. "We'll see."

The ultimate hope, he noted, is to use gene therapy to potentially cure hemophilia. Researchers are already working on it, he added.

Both studies were published May 26 in the New England Journal of Medicine.

More information

The U.S. Centers for Disease Control and Prevention has more on hemophilia.

Source : http://www.nwitimes.com/niche/get-healthy/new-findings-offer-hope-for-those-with-severe-hemophilia/article_cf581470-d27a-5af2-a19e-723afdc5457a.html