This last week my famiy and I had a terrible head cold. When you have little ones, it is harder even, they are sick, then you are sick, you are all miserable together and it is not fun. As the momma you cannot be sick! you have to get up and take care of everyone else, what a job! The kids and I started feeling better by about Saturday, with the hubby feeling the worst on Father's Day, poor guy! Being sick, even with just a horrible head cold really made me think of HHT and also other illnesses out there that cause anyone to have to have health issues everyday, and how difficult that really is.
With Father's Day comes an array of emotions for me. I lost my dad almost 7 years ago. I think of all the years that my father could still have on this earth with us if he had been able to have his symptoms treated. He actually went to a doctor and had a brain CT about 7 years previous to his death, I don't know the reason exactly, maybe it was because of headaches, or something else. I didn't know that he had a CT until after he died. He was a very private man about that stuff and we hadn't lived under the same roof as my parents had divorced when I was young. The doctors said that they saw a spot on his brain but that it was nothing to be worried about. He should've been referred to a specialist, maybe he was, I don't know. But an HHT specialist would have saw that and said, "Let's look into this further."
We cannot change the past or dwell in it. Now we know what we know. That is what I know, that I have to look to the future, live today to the fullest! That is why getting the info out to others about HHT is so detrimental! I feel that if more doctors knew of this disorder, more of the general public would be aware of it also.
My sister and brother currently undergo all their ct's, mri's, lung procedures, at a great HHT center, at OHSU, they are so awesome. I cannot tell you how thankful I am that they go through all this with their doctors, the best! They really are the best, I thank God that my family lives close, that it is not far, we are blessed to have one here so close. With more funding and research, there can be more HHT centers, where families could go to get all their care done. I was reading on the HHT website and was so struck by this one ladies comment, it was like on a board where you post questions and stuff, I am telling ya, the HHT website is so awesome. But it was so sad to hear this lady, she had HHT but couldn't afford to always go to the HHT center cause she lives so far away from one. That is heartbreaking and wrong. I hope that in the near future there will be more HHT centers to treat people and that the location will not be why they cannot make it to one, because the preventitive care for HHT is what prolongs a patients life and quality of life.
I took some info from the HHT website to explain in better terms what some of the symptoms and treatments are of HHT:
Many individuals who initially request a genetic test for HHT actually do not need this expensive test to determine whether they have HHT. In many cases a physician familiar with the sometimes-subtle external signs of HHT, and who takes a detailed family history, can make the diagnosis during a clinic visit. The following Diagnostic Criteria for HHT have been published by an international group of HHT experts. The diagnosis of HHT is considered definite if three or more of the following four criteria are present, or suspected if two of the following four criteria are present:
Nosebleeds- spontaneous and recurrent
Telangiectases- multiple, at characteristic sites, including lips, oral cavity, fingers and nose Internal telangiectases or AVM- lung, brain, GI, liver or spinal
Family history-parent, sibling or child with HHT according to these criteria
The location of telangiectases and /or AVMs in the body determines what problem(s) someone with HHT might have. In most locations, and at any size, a telangiectasia or AVM has greater tendency to rupture and bleed than a normal blood vessel. In the nose, skin, GI tract (stomach and intestines), and brain the primary problem they can cause is bleeding. AVMs in the lungs or liver are less likely to rupture and bleed, but can cause other problems that are less obvious to doctors and patients who lack an in depth understanding of HHT. No one with HHT has all of the signs and symptoms listed below. My family has had the lung and brain avm's and they have the skin teangiectases, those are the things that I will talk about, as that is the experience that I have had.
Symptoms of HHT vary greatly, even within a family. A parent may have horrible nosebleeds, but no AVM in an internal organ. Yet, their child may have a nosebleed only rarely, but have AVMs in one or more internal organs. We can not predict how likely someone is to have one of the hidden, internal AVMs based on how many nosebleeds or skin telangiectases they have. In other words, the person with HHT who has minor/mild nosebleeds is as likely to have an AVM in their lung, as the person with HHT who gets severe daily nosebleeds.
Telangiectases in the nose, along with the nosebleeds they cause, are the most common symptom of HHT. About 95% of people with HHT have recurring nosebleeds by the time they reach middle age. The average age at which nosebleeds begin is 12, but they can begin as early as infancy, or as late as adulthood. The nosebleeds can be as infrequent as a couple per year, or can occur daily. When a nosebleed occurs it can last only seconds, or occasionally hours. The amount of blood lost may be a few drops, or enough to cause anemia (low blood count). As with most things that are variable in human beings (i.e. height and shoe size), the majority of people with HHT are in between the two extremes in terms of nosebleed frequency and severity. I remember always seeing kleenex in the garbage with blood all over it, my sister, brother and father always got really bad nosebleeds. My brother and sisters have seemed to get better over the years (they are in their 20's), they had them worst when they were young, while my dad had them really bad into his adult life.
Telangiectases in the skin of the hands, face and mouth are also found in about 95% of all people with HHT. These often do not become apparent until the 30s or 40s, however. They appear as small red to purplish spots. In some individuals with HHT they become quite prominent by late adulthood, in others they are subtle. The telangiectases on the skin and in the mouth can bleed also, but they are less likely to bleed than those in the nose. Both telangiectases of the skin and nosebleeds have a tendency to become more numerous with increasing age. But with this too, there are many variations and exceptions!
Lung and brain AVMs should be treated before they cause symptoms or problems in most cases. This is why testing or screening for them is recommended in all individuals with HHT, regardless of their specific symptoms. Lung AVMs can almost always be treated completely and permanently using an outpatient procedure called embolization. An Interventional Radiologist inserts a small tube (catheter) in a large vein in the groin. The tube is then passed through the blood vessel system to the AVM in the lung. A devise (a “coil” or occasionally a “balloon”) is placed in the artery leading to the AVM to stop blood flow through the AVM. The procedure usually takes 1-3 hours and requires only a few hours of recuperation.
Brain AVMs are treated in different ways depending on the size, structure and location in the brain of the abnormal blood vessels. Surgery, embolization and stereotactic radiosurgery can all be used, separately or in combination, to successfully treat brain AVMs.
Saturday, June 23, 2007
Tuesday, June 12, 2007
What is HHT???
This is taken off of the HHT website, I wanted to just share the most basic explanation that I could find out there and share that you all.
HHT is a genetic disorder that causes abnormalities of blood vessels. Most blood vessels in the body of someone with HHT are normal. However, a small percentage of the blood vessels in a person with HHT have a specific type of abnormality. Abnormally formed blood vessels (telangiectasia and arteriovenous malformations) cause all the symptoms of HHT.
Blood vessels are the tubes that carry blood around our bodies. There are two types of blood vessels: arteries and veins. Arteries carry blood under high pressure out to all areas of the body after being pumped by the heart. Veins carry blood that should be under low pressure, back to the heart. An artery does not usually connect directly to a vein. Usually there are very small blood vessels called capillaries that connect an artery to a vein.
A person with HHT has a tendency to form blood vessels that lack the capillaries between an artery and vein. This means that arterial blood under high pressure flows directly into a vein without first having to squeeze through the very small capillaries. This place where an artery is connected directly to a vein tends to be a fragile site that can rupture and result in bleeding. We usually call a blood vessel that is abnormal in this way a telangiectasia (tel-AN-jee-eck-TAZE-ee-ya), if it involves small blood vessels. We tend to call it an arteriovenous malformation (AVM) if involves larger blood vessels. So, an AVM might be thought of as a big telangiectasia. The basic abnormality in the blood vessel is the same.
Telangiectases tend to occur at the surface of the body such as the skin and the mucous membrane that lines the nose. AVMs tend to occur in the internal organs of the body. The telangiectases (plural for telangiectasia) and AVMs of HHT occur primarily in the nose, skin of the face, hands, and mouth and the lining of the stomach and intestines (GI tract), lungs, liver and brain. It is not currently known why these abnormal blood vessels tend to occur in certain parts of the body and not others.
An abnormal gene on either chromosome 9 or 12 causes most HHT. The gene on chromosome 9 is called endoglin and the gene on chromosome 12 is called activin-like kinase 1 (ALK-1). Any particular individual or family will have only one of these two genes appear abnormal. Normally, these genes produce a substance that is involved in the formation of blood vessels. Because of an abnormality in one of these genes, individuals with HHT make less of one of these substances. This, in turn, can interfere with the normal formation of a blood vessel.
The abnormal HHT gene is usually inherited from one parent who has HHT. HHT is a "dominant" disorder, meaning it only takes one abnormal copy of the gene, from only one parent, to cause the disorder. Each child of a parent with an HHT gene has a 50% chance of inheriting this abnormal gene. If a particular child does not inherit the HHT gene from his or her parent, he/she has no chance to pass the HHT gene to a child or grandchild. The gene does not skip generations! However, sometimes it can appear to skip because an individual with an HHT gene has symptoms that are so mild that they aren’t recognized, or if recognized are not correctly attributed to HHT. Very rarely in HHT, a genetic accident (new mutation) occurs in a sperm or egg cell of an unaffected parent and causes HHT in the child. But in most cases, the abnormal HHT gene has been in the family for generations.
Approximately 1.2 million people world-wide have Hereditary Hemorrhagic Telangiectasia (HHT). There is one statistic on the website that says there are 2 people born a day with HHT. So, HHT is uncommon, but not rare. There are more out there, but they are undiagnosed or misdiagnosed. That is a big problem, because thankfully the things that you CAN do to be healthy with HHT are preventitive measures, you have to know what is going on to treat it, keep it under control.
In my next post I will share some of the symptoms of HHT, the procedures that are performed to ensure the quality of life for people with HHT, and some personal stories of what my family has had done and what they live with.
God bless.
HHT is a genetic disorder that causes abnormalities of blood vessels. Most blood vessels in the body of someone with HHT are normal. However, a small percentage of the blood vessels in a person with HHT have a specific type of abnormality. Abnormally formed blood vessels (telangiectasia and arteriovenous malformations) cause all the symptoms of HHT.
Blood vessels are the tubes that carry blood around our bodies. There are two types of blood vessels: arteries and veins. Arteries carry blood under high pressure out to all areas of the body after being pumped by the heart. Veins carry blood that should be under low pressure, back to the heart. An artery does not usually connect directly to a vein. Usually there are very small blood vessels called capillaries that connect an artery to a vein.
A person with HHT has a tendency to form blood vessels that lack the capillaries between an artery and vein. This means that arterial blood under high pressure flows directly into a vein without first having to squeeze through the very small capillaries. This place where an artery is connected directly to a vein tends to be a fragile site that can rupture and result in bleeding. We usually call a blood vessel that is abnormal in this way a telangiectasia (tel-AN-jee-eck-TAZE-ee-ya), if it involves small blood vessels. We tend to call it an arteriovenous malformation (AVM) if involves larger blood vessels. So, an AVM might be thought of as a big telangiectasia. The basic abnormality in the blood vessel is the same.
Telangiectases tend to occur at the surface of the body such as the skin and the mucous membrane that lines the nose. AVMs tend to occur in the internal organs of the body. The telangiectases (plural for telangiectasia) and AVMs of HHT occur primarily in the nose, skin of the face, hands, and mouth and the lining of the stomach and intestines (GI tract), lungs, liver and brain. It is not currently known why these abnormal blood vessels tend to occur in certain parts of the body and not others.
An abnormal gene on either chromosome 9 or 12 causes most HHT. The gene on chromosome 9 is called endoglin and the gene on chromosome 12 is called activin-like kinase 1 (ALK-1). Any particular individual or family will have only one of these two genes appear abnormal. Normally, these genes produce a substance that is involved in the formation of blood vessels. Because of an abnormality in one of these genes, individuals with HHT make less of one of these substances. This, in turn, can interfere with the normal formation of a blood vessel.
The abnormal HHT gene is usually inherited from one parent who has HHT. HHT is a "dominant" disorder, meaning it only takes one abnormal copy of the gene, from only one parent, to cause the disorder. Each child of a parent with an HHT gene has a 50% chance of inheriting this abnormal gene. If a particular child does not inherit the HHT gene from his or her parent, he/she has no chance to pass the HHT gene to a child or grandchild. The gene does not skip generations! However, sometimes it can appear to skip because an individual with an HHT gene has symptoms that are so mild that they aren’t recognized, or if recognized are not correctly attributed to HHT. Very rarely in HHT, a genetic accident (new mutation) occurs in a sperm or egg cell of an unaffected parent and causes HHT in the child. But in most cases, the abnormal HHT gene has been in the family for generations.
Approximately 1.2 million people world-wide have Hereditary Hemorrhagic Telangiectasia (HHT). There is one statistic on the website that says there are 2 people born a day with HHT. So, HHT is uncommon, but not rare. There are more out there, but they are undiagnosed or misdiagnosed. That is a big problem, because thankfully the things that you CAN do to be healthy with HHT are preventitive measures, you have to know what is going on to treat it, keep it under control.
In my next post I will share some of the symptoms of HHT, the procedures that are performed to ensure the quality of life for people with HHT, and some personal stories of what my family has had done and what they live with.
God bless.
Sunday, June 10, 2007
The beginning of my adventure
I wanted to start posting things that I will be doing in the future on this site, as it pertains to HHT. I was praying today, as I often pray for my siblings, who are affected by HHT, and was asking the Lord, show me, what can I DO to be proactive in this?
I have been affected by HHT my entire life, I didn't know it all that time, as my father was diagnosed at the age of 43. A brain avm almost took his life, and that is when a doctor diagnosed him and thus our family knew what all these "weird symptoms" were. My father passed away about five weeks later from a heart attack, we do not know if that was related to HHT or not. Both of my brothers have had brain avm's (arteriovenous malformations) and aneurisms when they were born. This, the doctors told us, was a one in a million chance, to have two brothers have the SAME, EXACT brain complications. Little did we know that with HHT it is more like a 50/50 chance of two brothers having the same brain issues if their parent had it.
Since our family learned of the HHT diagnosing of my father we have been through a lot. I don't know if I could handle being the one with HHT. I look at my younger sister and tell her how much I admire and respect her attitude and faith in this disorder that has, in a way, taken over her life and my brothers lives. She is a rock, I love her so much. My younger brother had complications from the aneurism/avmHereditary that they found in his brain at 5 months old. The location was in the middle of his motor, speech and vison field. He has been left disabled from this operation, labeled as mentally retarded, due to his low i.q. His journey has been a long one in his short life, a journey that we, as his family embarked with him, along on the ride. What joy, sorrow and character has followed this young man. He requires 24 hour care and he will never "get better" as some would say. I see God in him when I look in his eyes, he is our angel on loan, as my mom says. :)
When something so prevalent comes into your life, you ask a lot of questions. I am someone who needs all the information to feel "okay" and to deal with it. We all deal with it in our own way! This is my way everybody. :) I will keep you all updated as to what the new adventures I am going to take to bring awareness to others about this disorder and am inviting you all along to learn and to get involved. Check out the HHT website. It is so user friendly and helpful in answering questions about HHT and what you or others can do to help. Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder of the blood vessels, which affects approximately 1 in 5,000 people. Many times it goes undiagnosed as the symptoms can complicated and thought to be something else and many physicians do not know what it is. I am not downing the medical professionals or field, quite the contrary. I believe in what they do, but they can only help what they know about. When I first went to my doctor regarding this, he didn't have a clue what it was, I told him to look it up and learn about it because I didn't know anything about it at that time either. Since then I have learned a lot and with the passion that I have for my siblings and their health I have been doing various projects to get the word out there. Writing our legislatures, senators, congress, is one thing. This is to bring their awareness to the need for funding for research and the development of more HHT centers. There are only 8 centers in the states, we live near one, at OHSU in Portland, thank you Lord! That is where my entire family goes to see the specialists and get their tests and treatments done. They are so wonderful in what they do! Bless them! In the near future I have some more public ventures that I want to check out, start getting some movement going. In my next entries I will give you more info on what HHT is exactly, fact sheets, etc... mostly from the HHT website. Then I want to show you some ideas of what I want to run with in getting awareness out there about HHT. Imagine when people didn't know what cancer was? That is what I think of...
Please stay tuned for more to come, God Bless and take care.
I have been affected by HHT my entire life, I didn't know it all that time, as my father was diagnosed at the age of 43. A brain avm almost took his life, and that is when a doctor diagnosed him and thus our family knew what all these "weird symptoms" were. My father passed away about five weeks later from a heart attack, we do not know if that was related to HHT or not. Both of my brothers have had brain avm's (arteriovenous malformations) and aneurisms when they were born. This, the doctors told us, was a one in a million chance, to have two brothers have the SAME, EXACT brain complications. Little did we know that with HHT it is more like a 50/50 chance of two brothers having the same brain issues if their parent had it.
Since our family learned of the HHT diagnosing of my father we have been through a lot. I don't know if I could handle being the one with HHT. I look at my younger sister and tell her how much I admire and respect her attitude and faith in this disorder that has, in a way, taken over her life and my brothers lives. She is a rock, I love her so much. My younger brother had complications from the aneurism/avmHereditary that they found in his brain at 5 months old. The location was in the middle of his motor, speech and vison field. He has been left disabled from this operation, labeled as mentally retarded, due to his low i.q. His journey has been a long one in his short life, a journey that we, as his family embarked with him, along on the ride. What joy, sorrow and character has followed this young man. He requires 24 hour care and he will never "get better" as some would say. I see God in him when I look in his eyes, he is our angel on loan, as my mom says. :)
When something so prevalent comes into your life, you ask a lot of questions. I am someone who needs all the information to feel "okay" and to deal with it. We all deal with it in our own way! This is my way everybody. :) I will keep you all updated as to what the new adventures I am going to take to bring awareness to others about this disorder and am inviting you all along to learn and to get involved. Check out the HHT website. It is so user friendly and helpful in answering questions about HHT and what you or others can do to help. Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder of the blood vessels, which affects approximately 1 in 5,000 people. Many times it goes undiagnosed as the symptoms can complicated and thought to be something else and many physicians do not know what it is. I am not downing the medical professionals or field, quite the contrary. I believe in what they do, but they can only help what they know about. When I first went to my doctor regarding this, he didn't have a clue what it was, I told him to look it up and learn about it because I didn't know anything about it at that time either. Since then I have learned a lot and with the passion that I have for my siblings and their health I have been doing various projects to get the word out there. Writing our legislatures, senators, congress, is one thing. This is to bring their awareness to the need for funding for research and the development of more HHT centers. There are only 8 centers in the states, we live near one, at OHSU in Portland, thank you Lord! That is where my entire family goes to see the specialists and get their tests and treatments done. They are so wonderful in what they do! Bless them! In the near future I have some more public ventures that I want to check out, start getting some movement going. In my next entries I will give you more info on what HHT is exactly, fact sheets, etc... mostly from the HHT website. Then I want to show you some ideas of what I want to run with in getting awareness out there about HHT. Imagine when people didn't know what cancer was? That is what I think of...
Please stay tuned for more to come, God Bless and take care.
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