When I was born, everything was fine. But when my umbilical cord fell off, it just kept bleeding and bleeding and bleeding. My mom kept taking me back to the doctor, but no doctor knew what was going on.
So after six or seven doctor visits, my mother had had enough and said she wasn’t leaving until they could tell her what was wrong with me. The doctor did some research and said he thought I had hemophilia. He recommended a blood transfusion, and I’ve been receiving them every two weeks throughout my life.
When I was younger, they’d have to shave the side of my head, because our transfusions were given in the head.
I say “our” because my brother, who was born four years after me, was born with the same condition.
Growing up, I wasn’t allowed to play any sports that could affect my joints. Softball, basketball – couldn’t do it. Really, anything that required strenuous activity were things the doctor told me I could not do.
It was embarrassing in school. You have to tell people about it and explain why you can’t participate in things. No one knows about Factor XIII. No one talks about it. There is still hardly anything on the Internet about it.
It is an invisible disease, sure. The main thing people notice is that I bruise really easily. It’s not a typical, small bruise; they are large, hematoma bruises. But other than that, you can’t tell anything is wrong with me.
I just have to be careful and take precaution. As I get older, I have more problems with my joints. I have to exercise my joints to keep them strong, as a way of avoiding bleeds. But I have to be very careful how hard I push it. It’s like walking around on eggshells every day. If I hit myself with something, or drop a box on my foot, you never know exactly what it’s going to lead to.
I didn’t like talking about Factor XIII when I was younger, but I’ve become a very open person, and I like educating people about it now. People are typically intrigued about the disease because it’s so different.
My doctor once told me that I would never be able to have children. Now I have three kids. I’ve received several calls from people with Factor XIII, wondering how it is possible to have biological children. The risks involved are so great, so people are really curious.
My first two labors went very well, but the third one was very difficult. It got to a point where we just didn’t know how it would end up. But thankfully, everything was all right. And that’s basically how I have to live: a little unsure about what is going to happen on any given day, but remaining happy and thankful for all that I do have.
What Is Factor XIII?
Factor XIII is the protein responsible for stabilizing the formation of a blood clot. In the absence of Factor XIII, a clot will still develop but it will remain unstable. When someone has a deficiency of Factor XIII, the tenuously formed clot will eventually break down and cause recurrent bleeds.
Soft tissue bruising
Newborns may have umbilical cord bleeding
Diagnosis is made by normal coagulation screening tests and a detailed family history.
Posted in Diseases, Featured, Supported Diseases | Tagged blood, Congenital Factor XIII Deficiency, Hukill | Leave a comment January 25, 2012
Having a loved one that is dealing with an illness or disease is a hard pill to swallow. From the moment of diagnosis, your life is changed. If your spouse has Huntington’s Disease, then you are equally affected. If your child has Factor XIII Deficiency, then you are dealing with a deadly clotting disorder.
The stresses and worries that plague a person with one of these conditions strike the caregiver as well. Your health and well-being is every bit as important as the health and well-being of the patient.
A study conducted in 2004 by AARP and National Alliance for Caregiving estimated that there are over 44 million adults who provide a level of care for a friend or loved one. This represents over 20 percent of the adult population. These selfless people provide a free service valued at over $250 billion dollars in about 20 percentof the homes in America.
The study asked caregivers about the Level of Burden in the care that they provided and used that as a measurement against the perceived health of the caregiver. The Level of Burden was a 5-point scale with simple tasks rated a 1 and difficult tasks rated a 5. They also created an index based on the level of burden, the activities of daily living, and the amount of time dedicated to caregiving. Nearly 20 percent of the people polled said that they provide more than 40 hours of care per week. Over 80 percent were caring for a family member. Over half were managing care for someone and working at the same time, and over 60 percent were married or living with a partner. That’s a lot of juggling. Most of these people provided this care for at least four years.
When asked, most of the people surveyed said that being a caregiver wasn’t that hard physically, and not very emotionally stressful, and not a financial burden. Of the ones that responded with a high level of stress or strain, they generally said that they didn’t have a choice of whether or not to be a caregiver. These respondents also reported a lower sense of their own personal health. About half of these folks said that they needed help to manage their stress. They were also more likely to spend more money on the person in their care than they did on themselves or their loved ones. Over a third had asked for information on getting financial help for the person in their care.
The troubling thing is that the person in their care will often not be getting any better.
The American Psychiatric Association recently updated their list of what qualified as a mental disorder. New on the list this year is ‘grief’. As you deal with the loss or decline of a loved one, your mental condition is on the same list as ‘autism’ and ‘psychosis’. In many cases, the grieving process starts before the actual death. Add that to the burden of being a caregiver.
What is your outlet for dealing with this stress?
Lee Ann Cox is writing a book about the loss of her husband. She expressed her feelings daily over Twitter and is weaving this 140-character-per-page diary into a narrative about the toll that his cancer took on her young family. It was a way for her to scream out loud as her world crashed around her. How will you know when it is time to scream out loud? When is it time to cry out for help?
Listen to yourself. Do you feel as if you’re never rested? Do you have flashes of anger at those around you? Are you unable to eat or sleep? Have you noticed issues with the person in your care, like missed medication or skin problems? You have to care for yourself if you wish to have any hope of caring for another.
The first step is to define the reality of your situation. What is the prognosis of the person in your care? Be informed, and know what is coming in the days, weeks, and years ahead. Defining this reality will help you to be better prepared and have a plan for if and when things seem to go from bad to worse.
Part of your plan needs to include time for yourself. Are you able to engage others in your caregiving? Many parents commit to a specific ‘date-night’ and point to that
as a key to a healthy relationship. Is it possible to arrange a ‘sitter’ for the person in your care?
It’s important to have hope. Hope is contagious, and while your hope may be different than the person in your care, it’s still important to care. Perhaps it is the small hope for a miracle cure; perhaps it’s hope for a better today. Either way, it’s hope.Posted in Caregivers, Featured, Uncategorized | Tagged Alzheimer's, Congenital Factor XIII Deficiency, Huntington's Disease | 3 Comments January 12, 2012
Imagine living that with a clotting disorder.
Millions of people around the world have some sort of bleeding or clotting disorder. Queen Victoria had a clotting disorder, and passed it on to her daughter. That daughter married a famous Russian guy and their son, Crown Prince Alexi, had it. Do you think that Czar Nicholas and Czarina Alexandra had some concerns about young Alexi?
Of the many types of blood disorders that are known, Factor XIII is the most rare. One in five million people rare. It is also unlike most of its cousins in that it doesn’t discriminate. It affects boys, girls, and all races. It does, however, share some characteristics. It is treatable, but there is no cure.
So what does this mean to your little daredevil? Should you wrap little Nicky in bubble wrap and stow him away on a shelf? Maybe. But being a kid is supposed to be fun, and it can still be fun if you use some common sense.
Children have a tendency to learn things by experience. Sometimes this experience is by experiment, like “the effects of metallic objects on toaster elements” or “the viscosity of cooking oil on old sneakers”. You can’t stifle this level of curiosity or inventiveness. It helped Edison invent the light bulb and put the Wright Brothers in the air. It’s important, however, that your fears don’t become your child’s fears. Your concerns over Factor XIII should be a part of your conversation with your child, but shouldn’t be every conversation. One of the last traits that we develop as humans is common sense, and you can certainly share some of yours with your child.
You can also develop a plan for “safe” activities with your child. Little kids are active buggers, and that’s a good thing. Staying active, healthy, and maintaining a proper weight are all things that can help people with Factor XIII. It helps reduce stress on the joints.
Can your little Tebow play football? Contact sports are probably a bad idea. But baseball? Why not? A common injury in baseball is getting pegged with a ball, so take advantage of the equipment. There are masks and chest protectors available to reduce the risks of errant flies and wild pitches.
What little one doesn’t fall off of a bike? It’s a right if passage. You should always wear a helmet (even if you don’t have Factor XIII!) and while a little casual roadwork is probably all right, we wouldn’t recommend back flips on a BMX.
The activities that you discuss should be low-contact, low-risk sports. Running, tennis, swimming, etc. Sports like ice hockey, skateboarding, and rugby should be left to the others. In a great irony, archery is a great activity. It teaches skill, patience, and coordination. Just be sure that you’re William Tell and not the one wearing the apple.
All of this activity is also good for something else: plenty of rest. We all do silly things when we’re tired, and a sharp mind will help someone with Factor XIII avoid those clumsy moments that all too often land us in trouble.
Having this sharp mind will also help to plan ahead. You can work with your child to teach them to be responsible. They can take ownership of their disorder and know that an activity may sometimes require them to pre-treat. An activity that involves a great deal of movement may call for some meds up front. They can also learn to quickly estimate the results of their actions. A good conversation can answer the question of whether or not it’s going to hurt if you put a fork in the toaster. They may not have to find out for themselves.
Most importantly, share. Share the fact that they have Factor XIII with friends, coaches, teachers, parents, and anyone else who is going to be involved in keeping your young one healthy, active, and happy. It isn’t who they are; it’s something that they have. Look at it this way: 1 in 5 million kids is a pretty special number.
Posted in Diseases, Featured, Media Center | Tagged clotting disorder, Congenital Factor XIII Deficiency | Leave a comment September 16, 2011
Caring Voice Coalition, Inc. (CVC), a non-profit organization that provides financial assistance and insurance advocacy for persons with specific chronic illnesses, is pleased to announce a new program to assist patients diagnosed with Congenital Factor XIII Deficiency.
Factor XIII is the protein responsible for stabilizing the formation of a blood clot. In the absence of Factor XIII, a clot will still develop but it will remain unstable. When someone has a deficiency of Factor XIII, the tenuously formed clot will eventually break down and cause recurrent bleeds. Common characteristics of Factor XIII deficiency include soft tissue bleeds, menorrhagia, joint bleeding, and persistent bleeding.
The announcement represents an expansion of CVC’s current programs which include Pulmonary Hypertension; Alpha-1Antitrypsin Deficiency; Idiopathic Pulmonary Fibrosis; Chronic Granulomatous Disease; Complex Partial Seizures; Infantile Spasms; Huntington’s disease and Narcolepsy
“We are excited to expand our programs to serve the Factor XIII deficiency patient community,” said Jean Lua, Associate Director of Patient Services for CVC. “Our new program will improve access to therapy and offer our patients and their loved ones peace of mind.”
About the Caring Voice Coalition:
Caring Voice Coalition, Inc. (CVC) is a national 501(c)(3) non-profit, charitable organization established in 2003 to provide financial, insurance education and personal support to individuals diagnosed with specific chronic or life-threatening diseases. CVC seeks to empower these patients by providing comprehensive programs delivered through a holistic approach by a staff of knowledgeable, dedicated and caring individuals.