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Today is the 3rd annual Rare Disease Day. What is Rare Disease Day, you ask? It is a large event organized by EURORDIS in in an attempt to raise worldwide awareness for all rare diseases. Forty countries are participating this year (including the US). There are 7,000 rare diseases in the US. Combined these diseases affect at least 25 MILLION Americans. To learn more about rare diseases in general, go to the Children's Rare Disease Network.
In honor of this day, I have chosen to do a special blog entry to raise awareness. I will be talking about five diseases, all of which affects someone I know. If, at any time, you want to know more about any of these diseases, please feel free to comment or email me. Also, all headers are linked to pages where you can find more information.
Langerhan's Cell Histiocytosis (LCH)
LCH affects 1 in 200,000 children and 1 in 560,000 adults. 76% of all LCH patients are under 10.
Langerhan's Cell Histiocytosis is a disease that acts (and is treated) like a cancer yet is not classified as one. It caused by an overabundance of histiocytes (white blood cells) that accumulate in various areas of the body causing lesions and/or tumors to form.
Treatment for LCH includes chemotherapy, steroids, radiation, and, rarely, a bone marrow transplant. Despite treatment, the disease can and does prove fatal far more often than anyone cares to think about.
Hemophagocytic Lymphohistiocytosis (HLH)
HLH affects 1.2 in 1,000,000 people under the age of 15.
Hemophagocytic Lymphohistiocytosis can either be genetic or secondary to a virus. (Yes, something as simple as a virus can be the start of your nightmare!)
When a person gets sick their t-cells and histiocytes (i.e. their immune system) activate causing an inflammatory reaction in order to fight off the illness. In a person with HLH a defect in their immune system allows this inflammation to exist. Essentially, their body is attacking itself.
HLH is treated with immunosuppressants and chemotherapy. This treatment is usually followed with a bone marrow transplant in attempt to rid the body of the disease once and for all. Without treatment, HLH usually proves fatal within two months. Even with treatment, the disease can be fatal. Not only are immunosuppressants and chemotherapy risky, but bone marrow transplants can have long-lasting and potentially deadly complications.
Juvenile Xanthogranuloma (JXG)
JXG is probably the least researched of the histiocytic diseases. Not much is known about the disease.
It is unknown how many are affected by this disease because it is thought to be misdiagnosed most of the time. Since the disease can go into spontaneous remission, these patients may never get their true diagnosis.
Patients with Juvenile Xanthogranuloma often exhibit as a rash as their first (and sometimes only) symptom. However, JXG can also effect a persons eyes, brain, spinal cord, lungs, liver, spleen, and other organs.
Because so little is known about JXG, there is no standard treatment. Sometimes, nothing is done. Other times a patient may undergo surgery, chemotherapy, or even radiation. When it comes to JXG, nothing is "outside of the box."
Diamond Blackfan Anemia
Diamond Blackfan Anemia is characterized by the failure of a persons bone marrow to produce red blood cells. Most patients with Diamond Blackfan Anemia are diagnosed in the first year of their life.
Patients usually start treatment with regular blood transfusions (which results in a build up of iron in the body causing the need for chelation therapy). The goal is to get them old enough and healthy enough to start corticosteroid therapy in attempt to send the disease into remission. However, this doesn't always work and some patients go on to receive a risky bone marrow transplant.
According to the DBA Foundation, 40% of all DBA patients are transfusion dependent, 40% are steroid dependent, and only 20% are in remission from the disease.
Fanconi Anemia (FA)
Fanconi Anemia is a genetic disorder that leads to bone marrow failure. The average life expectancy of a Faconi patient is 24.7 years.
Many people with FA will develop Acute Myeloid Leukemia (AML) at an early age. Even if the person, doesn't develop AML it is extremely likely they will develop some form of cancer early in their life.
In addition to the cancer risk, patients with Fanconi Anemia may have thumb and arm abnormalities, skeletal abnormalities, kidney problems, a small head or eyes, gastro-intestinal issues, small male reproductive organs, and/or heart defects.
Medically, doctors tend to work on managing the symptoms until the patient is 8-12 years old when the child undergoes a bone marrow transplant. A successful bone marrow transplant will cure the blood problem but the patient will still be at an increased risk for cancer.
How you can help:
Share your new knowledge. Share the links I have provided today. Write your congressman asking for government funding to save the lives of these children.
Donate blood and platelets at your local Red Cross or hospital. Sign up to be a marrow donor. Host a marrow drive to sign others up!
You can even donate monetarily at any of the sites for research.
Monday, February 28, 2011
Monday, February 14, 2011
Missing out
I love my niece. I really do. It has been an amazing 16 months watching her personality develop and seeing the joy in her face when she learns something new. As much joy as she brings to my life, she brings some pain as well.
I am jealous of her mother. My sister was not at all ready for a child. Niecelet's father is much less than ideal. In fact, he hasn't even seen her since Christmas.
She's also a reminder. Aiden would be four months older than Niecelet. Watching her grow up and do new things is a reminder of what he would be able to do already. She's already pairing words together to make mini-sentences "See dat?" "Did dat." "Da! Ca!" (Dad! [gpa] Cat!) She's running, jumping, playing hide and seek, spinning herself in circles until she is incapable of standing...and these are just her new things. I will never get to see Aiden (or Dominic, or Gwen, or Jill) do any of it and it hurts. :(
I am jealous of her mother. My sister was not at all ready for a child. Niecelet's father is much less than ideal. In fact, he hasn't even seen her since Christmas.
She's also a reminder. Aiden would be four months older than Niecelet. Watching her grow up and do new things is a reminder of what he would be able to do already. She's already pairing words together to make mini-sentences "See dat?" "Did dat." "Da! Ca!" (Dad! [gpa] Cat!) She's running, jumping, playing hide and seek, spinning herself in circles until she is incapable of standing...and these are just her new things. I will never get to see Aiden (or Dominic, or Gwen, or Jill) do any of it and it hurts. :(
Sunday, February 6, 2011
Then and Now: Depression
Last night I got to thinking about 4.5 years ago and comparing it to now. I was amazed at the change I see.
Four and a half years ago, about the time I met Chris, I was in a very dark place. I was suffering from Double Depression. I was suicidal and I was a self-injurer (which was very separate from the suicidal bit). I am not proud to admit this, but am not ashamed either. It happens, people need to realize that most of the time, it's NOT just a cry for attention. I was very sick mentally. I will not go into an awareness rant here, but if you want to know more about it, email me. What it boiled down to was I did not know how to handle my stress and emotions.
Since then, what I've been through is so much worse. In the last four years, I've four losses and a lot of financial stress. Nothing every compares to losing your children. Yet, somehow, mentally, I'm so much better off. I'm not at all suicidal and I do not self-injure (and haven't since Aug 30, 2006!) though I do think about it from time to time.
I think part of why I don't give in to those thoughts is because I won't let myself forget how awful that time of my life was and how truly addicting self-injury is. I won't let myself forget the pain...not the physical pain-that was nothing...but the emotional pain. I do NOT want to be like that again. Therefore, I do everything I can to not allow my brain to go down that path.
One thing I've had to learn in order to be successful with this is how to better handle stress. Sometimes, I get crabby and take it out on others(just ask Chris!), this is the best way to handle it, and I hope to improve there. The most effective I've found is talking about it. I vent on FaceBook, I vent in chats, I post here. I do whatever it takes.
A few weeks ago, I had a slip up where I was not effectively handling my grief. I could feel myself getting very close to where I was just over four years ago. It scared the crap out of me. I realized that I needed help and fast. In order to obtain this help, I started by talking to my best friend, Traci. She was amazing and just listened and encouraged me to talk to Chris. The problem was I still couldn't say out loud that I needed help. So we decided I should post on a private forum for women that have had multiple losses. Doing so gave me the courage to talk to Chris...sort of. I still couldn't say it so I emailed him what I had posted on the board.
Of course, he was amazing, as always. We decided that I would look for a support group locally and he would look into our insurance benefits. In my search I found TCF. I do not have a local chapter but they have a nightly chat online. I have attended many times and plan to continue going back. I have also made an effort to blog more regularly. These two things alone have made a huge difference. I am actually feeling more "normal" than I have in a long time. It's amazing what a difference a few years can make!
Four and a half years ago, about the time I met Chris, I was in a very dark place. I was suffering from Double Depression. I was suicidal and I was a self-injurer (which was very separate from the suicidal bit). I am not proud to admit this, but am not ashamed either. It happens, people need to realize that most of the time, it's NOT just a cry for attention. I was very sick mentally. I will not go into an awareness rant here, but if you want to know more about it, email me. What it boiled down to was I did not know how to handle my stress and emotions.
Since then, what I've been through is so much worse. In the last four years, I've four losses and a lot of financial stress. Nothing every compares to losing your children. Yet, somehow, mentally, I'm so much better off. I'm not at all suicidal and I do not self-injure (and haven't since Aug 30, 2006!) though I do think about it from time to time.
I think part of why I don't give in to those thoughts is because I won't let myself forget how awful that time of my life was and how truly addicting self-injury is. I won't let myself forget the pain...not the physical pain-that was nothing...but the emotional pain. I do NOT want to be like that again. Therefore, I do everything I can to not allow my brain to go down that path.
One thing I've had to learn in order to be successful with this is how to better handle stress. Sometimes, I get crabby and take it out on others(just ask Chris!), this is the best way to handle it, and I hope to improve there. The most effective I've found is talking about it. I vent on FaceBook, I vent in chats, I post here. I do whatever it takes.
A few weeks ago, I had a slip up where I was not effectively handling my grief. I could feel myself getting very close to where I was just over four years ago. It scared the crap out of me. I realized that I needed help and fast. In order to obtain this help, I started by talking to my best friend, Traci. She was amazing and just listened and encouraged me to talk to Chris. The problem was I still couldn't say out loud that I needed help. So we decided I should post on a private forum for women that have had multiple losses. Doing so gave me the courage to talk to Chris...sort of. I still couldn't say it so I emailed him what I had posted on the board.
Of course, he was amazing, as always. We decided that I would look for a support group locally and he would look into our insurance benefits. In my search I found TCF. I do not have a local chapter but they have a nightly chat online. I have attended many times and plan to continue going back. I have also made an effort to blog more regularly. These two things alone have made a huge difference. I am actually feeling more "normal" than I have in a long time. It's amazing what a difference a few years can make!
Wednesday, February 2, 2011
Dominic McDylan
Such an odd middle name don't you think? I think my dad might have been joking when he suggested it. I really liked it at the time and Chris didn't protest. Now...I'm indifferent. I don't hate it, but I also don't love it. Oh well, what's done is done.
I can't believe it's been four years. I honestly don't know what would have happened if we hadn't lost him. We were not ready for a baby, I knew that. BUT I also know, without a doubt in my mind, that I would have stepped up to the plate and raised my precious baby to the best of my ability. I often wonder if our relationship would have made it had we had a baby so early. Regardless, I miss him. Just because he was a surprise baby doesn't mean he wasn't wanted and loved.
If you would have told me four years ago today that I would be married to Chris, I would have believed you in a heartbeat. If you would have told me that despite still being with him, we still wouldn't have any living children, I would have said you were crazy. Never in a million years, would I have thought that I would lose four babies in four years time. I certainly wouldn't have thought that after our last loss we'd go one to using meds for a year and still not even be pregnant. But, it is what it is. We can't change it and I accept that. I just wish I knew how it would end up. Am I ever going to be a Mommy to a living, breathing baby that I gave birth to?
I can't believe it's been four years. I honestly don't know what would have happened if we hadn't lost him. We were not ready for a baby, I knew that. BUT I also know, without a doubt in my mind, that I would have stepped up to the plate and raised my precious baby to the best of my ability. I often wonder if our relationship would have made it had we had a baby so early. Regardless, I miss him. Just because he was a surprise baby doesn't mean he wasn't wanted and loved.
If you would have told me four years ago today that I would be married to Chris, I would have believed you in a heartbeat. If you would have told me that despite still being with him, we still wouldn't have any living children, I would have said you were crazy. Never in a million years, would I have thought that I would lose four babies in four years time. I certainly wouldn't have thought that after our last loss we'd go one to using meds for a year and still not even be pregnant. But, it is what it is. We can't change it and I accept that. I just wish I knew how it would end up. Am I ever going to be a Mommy to a living, breathing baby that I gave birth to?
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