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Our cause awareness blog provides knowledge and educational information to advocate for cancer, medical, social and psychological illnesses and/or causes. 

International Overdose Awareness Day

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Every year on August 31st, we come together as a global community to observe International Overdose Awareness Day. We take this day to honor the lives lost to drug overdoses by raising awareness about the issue. Overdose Awareness Day is held on the last day of August, before the first day of Recovery Awareness Month in September.

History Behind International Overdose Awareness Day

International Overdose Awareness Day began in 2001. It began in Australia, under the direction of a woman named Sally Finn. At the time, Finn was working for the Salvation Army Crisis Centre. She was the manager of their safe needle program. Peter Streker and Sally Finn gave out thousands of awareness ribbons to raise awareness for overdose. Since its’ founding in 2001, over 40 countries have joined in observing International Overdose Awareness Day.

“Overdose Awareness Day is, at its heart, an opportunity to commemorate the death of someone loved, with pride.

Whether the person was a friend, a family member, or a life partner, the shock and sadness when someone dies of overdose is equal to any loss felt when a loved-one passes away.

However, it is a grief that, in today’s world, is complicated by the stigma of drug use, by the hatred that stigma generates.”

Sally Finn

What is Addiction?

Addiction is a disease that affects the brain. It is complex and multifaceted. Addiction causes an individual to compulsively take a particular drug routinely. They use drugs regardless of the consequences they suffer as a result.

Addiction starts when a substance is introduced into the system. The person will seek the intoxication that the substance caused the first time. Once a person begins to use the substance on a regular basis, their brain rewires. They will begin to develop cravings for the substance. Cravings will override rational thought and behavior. The individual will experience an extreme sense of urgency to consume the substance. Over time, they will develop a tolerance and need more of the substance to become intoxicated. As the tolerance increases, the danger for overdose also increases. This is because the amount of the drug needed to become intoxicated rises. The more they take, the higher their risk for overdose.

What Are the Signs of Addiction?

The signs and symptoms of addiction vary depending on the substance. There are some general rules of thumb when it comes to a budding addiction, though.

The first sign is somewhat obvious. When it comes to prescription drugs, are you taking the medication for longer than needed? This can be a complicated question for two reasons. First, pain is subjective. Second, need is also subjective in this sense. Someone may feel as though they need the medication even after they do.

Another early sign of addiction to prescribed medication is taking the medication differently than instructed. This can start as innocently as taking another dose 30 minutes before you are supposed to. Then, you take it a little sooner than that. Then, you find yourself doubling your dose.

A tolerance develops after continued use of a substance. The body gradually adjusts to the substance. You begin to feel its’ effects less and less as the tolerance grows. People suffering from addiction will develop a tolerance to their substance of choice. A growing tolerance is a substantial contributor to overdose. People take more than they are used to in order to achieve intoxication. That leads to consuming more of the substance than their body can handle.

Another major sign of addiction is feeling sick when you do not have the substance in your system. This may manifest as nausea or vomiting. It may cause aches and pain, similar to the flu. It may cause lethargy, headaches, chills, or sweating.

Chemical dependence often causes depression. This is because the level of dopamine and serotonin in the brain are impacted by drug use. This causes a behavioral change in many people suffering from addiction. They no longer enjoy the things that they once loved, and withdraw from friends and family. The more isolated they become, the more their depression worsens. When depression worsens, people use drugs to feel better. It's a vicious cycle.

Why Are People Becoming Addicted to Drugs?

The United States is currently facing an unprecedented drug problem. The rise in prescription pain medication use has caused an alarming rise in abuse. A short-term prescription for illness or injury can cause chemical dependence after only a few weeks. That dependence quickly progresses into an addiction that people are unable to overcome on their own. Many people turn to street drugs when they can no longer get a prescription. This has led to a rise in opioid and opiate use and overdoses nationwide.

What is the Opioid Epidemic?

Today’s opioid epidemic, or opioid crisis, was born in the 1990’s. In the 1990’s, doctors were encouraged to take pain more seriously with the development of “the fifth vital sign.” The fifth vital sign was a scale from one to ten that measured a patient’s pain level. If the patient experienced moderate to severe pain, doctors would prescribe pain medication. The intentions were good.

There were problems with this system. The scale was subjective, and it was impossible to know if the number given was accurate or honest. This led to a dramatic increase in the number of patients treated with opioids. There were other factors, too. A popular medical journal published a letter saying that chronic pain patients rarely became addicted. Pharmaceutical companies also reassured prescribers that they were low risk. The combination led to an increase in the use and abuse of pain medication.

What are the Signs of an Overdose?

An overdose occurs when too much of a substance is taken. The metabolism is unable to eliminate the substance fast enough to maintain vital organ function. The signs of an overdose are dependent on the drug taken. In general you will see some combination of vital functions affected.

Shallow breathing and a weak pulse are signs of central nervous system depression. Central nervous system depression can lead to a coma or respiratory arrest. Central nervous system depression is very serious. Slow and shallow breathing or a weak pulse can become deadly. This may also cause fingers and lips to turn blue. If fingers and lips turn blue, there isn’t enough oxygen circulating through the body. If tissue doesn't get enough oxygen it will die.

Loss of consciousness is a serious sign of overdose. If someone is unresponsive, or you cannot wake him or her up, you should call 911 immediately. Loss of consciousness can be the result of trauma to the brain. It is also a sign that the brain is not functioning properly.

Overdose can cause heart arrhythmia and tachycardia. The heart is unable to regulate its' rhythm and rate. In a worst-case scenario, this can cause sudden cardiac arrest. In stimulant overdose, the heart will race and they may experience chest pain. In depressant overdose, the heart rate may become too slow or erratic to sustain life.

Vomiting is a sign that the body is trying to rid itself of toxins. Many people don’t consider how dangerous vomiting can be. People who lose consciousness can vomit. If they are not laying on their side, the vomit can get stuck in their airway. Choking on vomit has caused many overdose deaths.

What Can I Do to Prevent an Overdose?

There is only one safe way to prevent an overdose from opioids and opiates. Naloxone is a medication that helps to reverse an overdose. Naloxone is an opioid antagonist, which means that it binds to opioid receptors in the brain. This stops opioids from binding with the receptors. It works on people who already show signs of overdose. It has even brought people who have stopped breathing back. In many cases, but not all, Naloxone is an effective way to prevent overdose.

Naloxone is administered three ways. The first way is through injection by a trained professional. This is usually administered by emergency responders. The other two ways are available to the public, though laws on how to attain them differ by state. Some states require a prescription. Other states make it available at pharmacies without a prescription. They come in the form of a nasal spray and auto-injector.

The nasal spray is called Narcan, but there is some concern about how effective it is. The auto-injector is called Evzio. Evzio is administered like an epi-pen for people with life threatening allergies. It is injected in the thigh. When you need to use it, you activate the auto-injector and it gives audio instructions to the user. Both are safe and easy to use in an emergency.

How Do I Help Someone Who is Addicted to Drugs?

Every person struggling with addiction is different. Addiction is a disease that distorts perception. It causes overwhelming feelings of shame, mistrust, and fear. Discussing substance abuse with someone suffering from addiction can be very difficult. It will likely be met with resistance and defensiveness. But don’t let that stop you. It may take 100 conversations before they really hear you. It may take 1000 conversations before they feel the desire to change. But, each conversation will get you both closer to changing the situation. As long as you come from a place of love, compassion, and understanding, keep trying.

The biggest thing you can do on your own to help someone suffering from addiction is to get educated. Try visiting an Al-Anon or Nar-Anon meeting to hear what other people in your position have tried. They teach you about how to deal with your loved one in a healthy way. You can also try visiting a counselor. They may be able to help you develop some ways to approach a conversation. It may be beneficial to do group counseling together.

Take them to an AA or NA meeting. It may help them to hear stories from other people who have walked in their shoes. You never know whose story may resonate with them and inspire them to change. It may simply offer them hope that life after addiction is possible and can be fulfilling. Even if they aren’t ready yet, becoming comfortable in a recovery environment could reduce some of the fear associated with getting help.

Call a professional addiction specialist. Talk to rehabilitation centers about their program. Find treatment centers that take their insurance, and learn about different treatment options. That way, when they are ready, it will be an easier transition. Some treatment centers have a waitlist, so it is good to look into this step in advance.

Share Your Story

Sadly, many of us have lost loved ones to a drug overdose. I have experienced the utter shock and grief caused by overdose first hand. A dear friend of mine overdosed on prescription pain medicine. He was awaiting a corrective surgery to treat the source of his chronic pain. The surgery was less than a month away. His pain was legitimate, his addiction was understandable, and his death was unbearable for everyone who loved him.

He was one of the funniest people I have ever met. So funny that he would captivate an entire room and leave people gasping for air through fits of laughter. He had the biggest heart and took care of everyone. I am so grateful that he was part of my life. I remember him and smile, so thankful for the memories. I am better for having known him. This post is for him.

Eight people who have been part of my life in some way, at some point, have passed away from drug overdoses. None of these people were using drugs or pain medicine when I knew them. They were all wonderful people, who I remember fondly. They were loved dearly. They were not selfish, or bad, or weak.

For each of them, a situation occurred that shifted the course of their lives. It set off a chain of events and eventually they succumbed to their addiction. I still get Facebook updates for their birthdays every year. It breaks my heart. I share this so that people may get a sense of how serious and pervasive this issue has become. These were people of all ages and backgrounds. It can truly happen to anyone.

Please feel free to share your story or pay tribute to someone you’ve lost in the comments.

If you or someone you know is struggling with addiction and are considering whether or not a treatment center is the right choice… This is the sign you’ve been looking for. Click the image to find treatment centers near you.

If you or someone you know is struggling with addiction and are considering whether or not a treatment center is the right choice… This is the sign you’ve been looking for. Click the image to find treatment centers near you.

World Hepatitis Day

Personalized Cause

Happy World Hepatitis Day!

Today is World Hepatitis Day! World Hepatitis Day is observed every year on July 28thall around the world. World Hepatitis Day aims to raise global awareness for viral hepatitis. It encourages people to learn the signs and symptoms of the disease to save lives. World Hepatitis Day is an opportunity to educate people about prevention and treatment for viral hepatitis. This awareness campaign is crucial because there are 300 MILIION people around the world living with viral hepatitis that do not know it. Left untreated, hepatitis can cause such severe damage that it leads to death. Today we are going to discuss the various forms of viral hepatitis, how they are spread, and how to prevent or treat them.

What Is Viral Hepatitis?

Viral hepatitis is a condition that causes inflammation in the liver. Inflammation can be progressive and cause scarring. Over time this scarring can lead to cirrhosis of the liver and even liver cancer. There are five main types of viral hepatitis: A, B, C, D, and E. Each form of hepatitis is distinct. Certain types of hepatitis are more prevalent in different parts of the world. It is important to note the difference between viral hepatitis and other forms of hepatitis. Some are caused by non-viral factors, like autoimmune disease, alcoholism, or drugs. Every year, over a million people around the world die from viral hepatitis.

What is Hepatitis A?

Hepatitis A (HAV) is also called infectious jaundice. It is unique compared to the other forms of hepatitis because of the way it is contracted. Hepatitis A spreads through contaminated food. It can also spread from contact with a person infected with the virus. Hygiene is the best way to prevent the spread of HAV. Unlike other forms of hepatitis, HAV causes acute inflammation but not chronic inflammation. Acute inflammation is short term, whereas chronic can be lifelong.

Despite the fact that the condition is temporary, it can cause serious health issues. The symptoms are caused by inflammation in the liver. Symptoms can include fatigue, fever, vomiting, pain, jaundice, and more. In rare cases, the inflammation can cause temporary loss of liver function. This requires a hospital stay for treatment and observation. The majority of HAV cases go away without any serious problems or permanent liver damage. Doctors recommend that people at a higher risk get the hepatitis A vaccine. It is a good idea to get vaccinated if you are traveling to a place where hepatitis A is common. You should also receive the vaccine if you may have contact with someone with hepatitis A.

What is Hepatitis B?

Hepatitis B (HBV) spreads through blood and other bodily fluids. HBV is acute for most, but becomes chronic in around 15% of cases. Chronic HBV occurs in cases where the virus is spread from mother to baby during childbirth. It also occurs when the virus is contracted during childhood. Chronic HBV occurs when the body cannot get rid of the virus all the way. Chronic HBV can cause damage to the liver over time. This damage can lead to cirrhosis of the liver, and other serious illnesses.

Hepatitis B is common in certain parts of the world. Asia and sub-Saharan Africa have the highest rates of HBV. It is also common is the area surrounding the Amazon, India, and the Middle East. HBV spreads through sex, unsanitary needle practices, and contact with any infected blood. People don’t realize that the disease can even spread through a shared razor because of cuts. There are just under a dozen FDA approved treatments for HBV. There is also a very effective vaccine. The vaccine is recommended for anyone at a higher risk of contracting the virus.

What is Hepatitis C?

Like hepatitis B, hepatitis C spreads through blood. Hepatitis C (HCV) is different than HAV and HBV because people usually don’t realize they have the disease for decades. It can often take 20 to 30 years for symptoms to emerge. This means that serious liver disease can develop over time unknowingly. If a patient isn’t aware of the virus, they are unable to treat and prevent more damage. This makes hepatitis C especially dangerous. Only around half of people with HCV know that they have it.

The first phase of hepatitis A, B, and C is always the acute phase. The acute phase occurs between 1 to 3 months after exposure. It typically last anywhere from a couple weeks to a few months. In hepatitis A and B, this is when the symptoms arise. The acute phase of hepatitis C is “silent”, meaning that there are rarely any symptoms. If symptoms are present, they are similar to the symptoms of hepatitis A and B.

HCV becomes chronic in most cases, but there are cases where the body is able to completely eliminate the virus. When this occurs it is called spontaneous viral clearance. Spontaneous viral clearance occurs in somewhere between 15 to 25 percent of cases. It is difficult to get a more precise number due to the “silent” nature of the acute phase. The age group most at risk for having undiagnosed HCV is people born between the year 1945 and 1965. People in this age range who were at higher risk during any point in their lives should be tested for the virus.

Up until recently, a HCV diagnosis meant daily medication and a weekly injection schedule. Advancements in technology don’t just occur at Google and Apple, though. Medical advancements have made a cure possible for up to 90% of patients. Treatment depends on the specific genotype of the HCV. There are seven different genotypes of HCV, with over 67 subtypes. The cure for chronic HCV is a pill taken every day for up to six months. There are four different medications used to cure HCV. These medications are up to 95% effective.

The medication depends on the type of HCV each person has. It is important to note that this cure does not prevent someone from contracting the virus again. All precautions should be taken to avoid reinfection. This regimen can reduce the number of deaths from hepatitis C. The cure prevents the long-term liver damage that occurs from chronic HCV. Preventing cirrhosis and other types of damage prevents the development of cancer or liver failure. The problem with these drugs is getting them approved by insurance before the disease progresses to a dangerous point. These medications are very expensive. Insurance companies prefer to try other treatment options first.

Hepatitis C also differs from hepatitis A and B because there is no vaccine to protect against the virus. That means that people should avoid high-risk behaviors. People with certain medical conditions are particularly at risk. Someone with HIV is at a high risk for HCV coinfection. People with bleeding disorders or factor deficiencies are also at a higher risk for contracting the virus.

There are other risk factors, too. People who work in places where they may be in contact with contaminated blood or needles are at risk. They should take extra care with handling needles. This means tattoo and piercing shops, hospitals, or IV drug users. People who received blood transfusions before 1992 should also have a one-time screening for the virus. It is possible they acquired HCV from contaminated blood. Last, HCV can be passed from mother to child during birth if the mother has HCV.

Hepatitis C is getting the most attention in this blog for a few reasons. In the United States, HCV is the most prevalent blood-borne infection. There is also no vaccine for HCV, which makes it more dangerous for people at higher risk. HCV is also the most likely form of hepatitis to lead to a chronic state. In 2016, the CDC published a report listing HCV as the number one cause of death from infectious disease in the US. So, it’s very important for us to do a comprehensive overview on it.

What is Hepatitis D?

Hepatitis D is much less common than the other forms we’ve discussed. To contract hepatitis D, you have to already have HBV. When hepatitis D (HDV) occurs, the potential for serious problems to arise is much higher. HDV can only exist in the presence of HBV. When the two combine, the risk for liver damage or disease compounds. The best way to prevent HDV is to prevent HBV. This means that if you vaccinate yourself against HBV then you are protected against HDV.

What is Hepatitis E?

Hepatitis E (HEV) spreads through contaminated food and water. HEV is most often spread through contaminated water. Like HAV, hepatitis E is mostly due to poor hygiene and is more common in developing areas for that reason. In most cases, HEV clears up on it’s own in 4-6 weeks. The biggest concern for HEV is with pregnant women. HEV is extremely dangerous for pregnant women. Around 20% of pregnant women who contract HEV will die from it. Usually only immune-compromised people who contract HEV will develop a chronic form. China has created an HEV vaccine, but it is only available in that country. Although HEV is found all over the world, there is a high concentration of cases in South Asia and East Asia.

What Are the Stages of Liver Damage From Hepatitis?

Fibrosis

The most common liver complication from hepatitis is called fibrosis. Fibrosis is the result of chronic liver inflammation caused by hepatitis. This inflammation leads to the development of scar tissue. Scar tissue prevents the liver from functioning as well as it did before. Fibrosis precedes cirrhosis. If fibrosis is controlled with medications and new damage is prevented, it likely won't progress into cirrhosis.

Cirrhosis

Cirrhosis is the more severe form of fibrosis. The more scarring that develops on the liver, the less the liver will function. Liver scarring cannot be fixed. If the liver stops functioning at a level that supports life then the only option is a liver transplant.

Liver Cancer

Liver cancer can be caused by cirrhosis. There are two types of liver cancer that can develop from cirrhosis. The first is called hepatocellular carcinoma, which affects the liver cells. The second type of cancer affects the bile ducts, called cholangiolar carcinoma.

Liver Failure

Just as deadly as cancer is liver failure. Liver failure is not a common outcome for hepatitis, but it can occur. Liver failure has various stages. Acute liver failure will lead to death without intervention.

There are many other types of complications caused by hepatitis. This is only an overview. The takeaway from this post is that prevention is the most effective way to stop serious consequences of hepatitis. It is important to know your risk factors and take the appropriate steps to protect yourself and those you love.


"An ounce of prevention is worth a pound of cure." -Benjamin Franklin

Sources: who.int;cdc.gov

Global HHT Awareness Day is June 23rd!

Personalized Cause

Hereditary Hemorrhagic Telangiectasia Awareness Day

Today's blog topic is Hereditary Hemorrhagic Telangiectasia (or HHT for short) in honor of Global HHT Awareness Day. As some of you may know from our more recent blogs, it is important to shine a spotlight on rare diseases. Rare diseases may only affect a small population in comparison to other more common diseases. But when you put all the people suffering from a rare disease together they make up a huge community. At Personalized Cause, we believe that there is power in awareness, and that there is strength in numbers. Like Helen Keller said, "Alone we can do so little, together we can do so much."

Personalized Cause is proud to announce that we now carry a red and blue awareness ribbon for HHT. The pin is available for purchase here. We have a red and blue awareness ribbon that can be personalized with a name, date or message, too (click here).

What is HHT?

Hereditary Hemorrhagic Telangiectasia is also referred to as Osler-Weber-Rendu Syndrome (or OWR). HHT is a genetic blood vessel disease that causes bleeding in various parts of the body. HHT, like other rare diseases, can go misdiagnosed or undiagnosed for years or decades. The average length of time for someone with HHT to be properly diagnosed is a whopping 27 years. This is because many of the symptoms of HHT can masquerade as other health problems. HHT is a genetic condition. It is not uncommon for more than one member of the same family to suffer from HHT. HHT can affect many organs, including the skin, nose, spine, lungs, gastrointestinal tract, liver, and brain.

What are the symptoms of HHT?

One of the most common symptoms of HHT is frequent nosebleeds. As many as 90 percent of people with HHT experience recurring nosebleeds. Nosebleeds from HHT are caused by malformed blood vessels in the nose. These malformations are called telangiectasia. Telangiectasia itself can be associated with many different health issues. It is actually a common skin condition with causes ranging from sun exposure to disease.

Telangiectasia with HHT tends to affect the lining of the nose, skin, and the intestines. They look like little red dots that appear on the surface of the tissue or skin. They are usually 1 to 2 millimeters in diameter, but they are not always visible without magnification. These telangiectasia burst and that is what causes the nose to start bleeding. Since nosebleeds are not uncommon in healthy people, this symptom is often overlooked by doctors. Nosebleeds caused by HHT typically start around the age of 12, but can start at any time. Onset of HHT nosebleeds range from babies to seniors. The bleeding severity and frequency also varies from patient to patient. For some they may be an annoying inconvenience. Others may experience so much blood loss that they need blood transfusions.

Another major issue caused by HHT is AVM. AVM stands for arteriovenous malformations. This means that there is a structural abnormality in the connection between an artery and a vein. Arteriovenous malformations are most common in the brain, but they can happen anywhere. HHT causes AVM's in many different parts of the body, including the brain, lungs, liver, and spine. Each location has different symptoms. Let's talk about them in a little more depth.

Cerebral AVM's are not the most common type of AVM due to HHT, but they can be the most dangerous. Around 23 percent of people with hereditary hemorrhagic telangiectasia develop a cerebral AVM. Cerebral AVM's look like a tangle of blood vessels between a vein and an artery. The tangle causes a connection between the vein and artery to grow. This can be dangerous for many reasons. Veins take blood that has already circulated through the brain back to the heart. Arteries take blood full of oxygen from the heart to the brain. Arteries and veins are opposite sides of a two way street. When an AVM is present, it can interfere with this process because the vein and artery connect. This can cause circulation issues, brain damage, neurological symptoms, or even a stroke.

Cerebral AVM's cause extra pressure in the brain. Over time, this pressure can lead to a thinning or weakening of the blood vessels in the area. If the vessels become weak enough they can burst causing a brain hemorrhage. Bleeding in the brain will cause pressure to increase which causing brain damage. It also prevents parts of the brain from getting oxygen which can be devastating.

Brain AVM's can cause various symptoms but sometimes cause no symptoms at all. The most common symptoms of AVM are headaches, seizures, or muscle weakness in only one part of the body. If the AVM is large or located in certain areas it can cause more serious symptoms. These symptoms include the symptoms mentioned above but they would be severe. They may also include difficulty balancing, loss of vision, difficulty understanding or speaking. In some cases, they can even cause paralysis.

Pulmonary AVM's (or PAVM's) are AVM's in the lungs. Pulmonary AVM's are about twice as common as Brain AVM's in people with HHT. Around 40-50 percent of patients have them. PAVM's affect the pulmonary vein and the pulmonary artery. Like brain AVM's, PAVM's cause issues with circulation. Because of the location PAVM's can interfere with the oxygenation of the blood. If there is not enough oxygen in the blood it can cause shortness of breath or difficulty breathing. The lack of oxygen can cause excessive strain during exercise, and may even cause the skin to appear blue.

While it is possible to have a PAVM without having HHT, the vast majority of PAVM's are caused by HHT. HHT type 1 causes an elevated risk for PAVM's. PAVM's can cause brain emboli. A brain embolism is when something in the body becomes dislodged and travels to the brain. It can be a blood clot, clump of bacteria, plaque, or even air bubbles. When they reach the brain they travel through small vessels until they become stuck. This is known as an embolic stroke. Strokes can cause serious disability or death.

People with HHT have to be extra careful when it comes to things that can cause complications from PAVM's. As I mentioned above, air bubbles and bacteria clumps can cause an embolic stroke. For this reason, people with PAVM's have to take preventative measures to reduce risk. Air bubbles can occur during surgical procedures, lung trauma, or even scuba diving. Medical staff are extra careful to make sure people with HHT do not get an air embolism. Scuba diving is not a good idea with a PAVM. Unfortunately, there isn't any work around. Last, antibiotics are given as a precaution before any medical procedure. Anything that could introduce bacteria into the bloodstream is dangerous without antibiotics. That even includes dental work.

Liver AVM's (also called liver vascular malformations) can be very common with HHT. Up to 75 percent of people with HHT have a liver AVM, but only around ten percent of those people experience symptoms. Liver AVM's can cause many symptoms and complications. The majority of symptoms are similar to the symptoms associated with cirrhosis. Severe cases can lead to heart failure due to the continued increased pressure on the heart.

When the heart is affected, diuretics are used to decrease blood volume and swelling. Low sodium diets are a necessity to prevent any extra fluid retention. Sometimes, pressure on the heart can cause heart arrhythmia. There are lots of medicines used to treat this. The last resort for severe cases of liver vascular malformation is a transplant. Liver transplants are only used as a last resort because of the high risk associated. Around ten percent of liver transplant patients do not survive the surgery. The other 90 percent usually see dramatic improvement.

Last but not least, we have spinal AVM's. Spinal AVM's are very rare. They only affect about one percent of people with HHT. Spinal AVM's can cause tissue damage or death over time because of lack of oxygen to surrounding tissue. This can damage the spine and result in chronic symptoms or disability. A damaged spine can affect your ability to walk or move. It can also cause severe pain, numbness and tingling in your legs. On top of tissue damage, a spinal AVM can swell over time and rupture. This is called a spinal cord hemorrhage. There are surgical treatment options to prevent damage or undo damage. Surgery is not an option for all spinal AVM's. Most people with a spinal AVM begin to show symptoms by the time they hit their 20's. The majority of cases are diagnosed in kids under 16 years old.

How is HHT Diagnosed?

HHT is diagnosed using a set of four criteria. If three of the four criteria are met then it is considered a "definite HHT" diagnosis. If there are only two then it is considered a "possible HHT" diagnosis. The criteria for diagnosis are: recurring nose bleeds; telangiectasia in typical HHT areas; diagnosed AVM's; and a blood relative with "definite HHT". More symptoms on the criteria list may surface as one gets older. A "possible HHT" diagnosis can become a "definite HHT" diagnosis over time. There is no cure for HHT. Because there is not yet a treatment to treat HHT itself, doctors rely on treating the symptoms. Some treatments may be done to prevent certain complications from arising.

Living with HHT can be challenging enough on its own. It is made even more difficult by the fact that most people have no idea what it is. Even most physicians don't know enough about it to correctly diagnose it in its early stages. This is where you come in. Anyone can become an advocate for any cause. All it takes is the desire to make an impact and help others. Something as simple as an awareness ribbon can go a long way in spreading awareness.

Awareness Resources

As you may know from looking at our site, we have extensive resources for rare diseases and genetic diseases. In fact, we have compiled specialty lists specifically for each. You can reach them by going to the "find your ribbon" tab in our directory menu. We are currently working on a master list of all causes. The master list will be comprehensive and include brief descriptions, categories and the awareness ribbon color associated with it. It has been a true labor of love. Personalized Cause prides itself on being the most accurate and up to date awareness resource. Since awareness ribbon colors can change over time, we are researching each cause one by one before we add it to our new master list. Our priority is to ensure that you can trust the information you find on our site. Stay tuned for the Master List arrival later this year.

Sources: CureHHT / MayoClinic / CDC / NORD

May 11 is Cornelia de Lange Syndrome Awareness Day

Danica Carson

Cornelia de Lange Syndrome Awareness Day

Happy May, everyone! Today we are going to talk about a rare disease called Cornelia de Lange Syndrome. This post is in honor of Cornelia de Lange Syndrome Awareness Day. Rare diseases are very important to become educated about for a lot of reasons. The biggest reason being that most people have never and will never hear about them. You may be saying to yourself, “if I will never encounter it, why should I educate myself about it?” Rare diseases will not get funding, research, interest or recognition without awareness. Awareness is crucial for developing treatments and potential cures. Education is the key to awareness.

The Importance of Raising Awareness

As you may have noticed, diseases and cancers with the most public awareness receive the most publicity, funding and research. Take breast cancer for example. The pink awareness ribbon is one of the most recognized awareness ribbons out there. Breast cancer fundraisers and events have led to research breakthroughs over the years. We can now test for hereditary breast cancer genes. This allows us to prevent generations of women from developing the cancer.

Another example is the Ice Bucket Challenge for ALS. The Ice Bucket Challenge was a viral meme that made the rounds through social media in 2014. It was an awareness campaign where people participated by making their own videos. Participants would begin the video by explaining that it was for ALS. They would then nominate three people to do the challenge. Finally, they would get a bucket of ice water dumped over their head. In 2016, it was reported that the Ice Bucket Challenge helped scientists identify a gene associated with ALS. All in all, the Ice Bucket Challenge raised $115 million dollars for ALS. The Ice Bucket challenge received criticism for being a trendy way to appear socially conscious. Digital activism with minimal work or commitment is called slacktivism. Critics focused on the dangers of slacktivism instead of the fundraising results. The skeptics were proven wrong only two years later. This demonstrates how powerful awareness can be for a disease, and why raising awareness for all rare diseases is so crucial to progress.

What is Cornelia de Lange Syndrome?

Cornelia de Lange Syndrome is a rare genetic disorder. CdLS is most often diagnosed after birth. It can sometimes be diagnosed through an ultrasound during pregnancy. CdLS carries many distinctive physical features, associated developmental delays, and intellectual disabilities. CdLS varies from patient to patient. Some people with CdLS may have most of the characteristics of the disease, while others may only have a few. Severity of each symptom is also variable.

What are the Symptoms of Cornelia de Lange Syndrome?

First, let’s talk about the physical symptoms. As I mentioned above, most CdLS patients are diagnosed as babies. Babies with CdLS often exhibit growth and developmental delays. This can affect their height and weight, and can be severe enough to be considered failure to thrive. Children with the syndrome are usually smaller than other children their age. They also have certain smaller features. The most noticeable physical symptoms are those that appear on the head and face or limbs.

Cornelia de Lange Syndrome may cause many craniofacial abnormalities. There is also "a look" associated with kids with CdLS. These characteristics include a small or short head and upturned nose. They may also have rounded eyebrows that usually grow together, a short, wide neck, and a very low hairline. There are less distinctive physical attributes associated with CdLS, too. An underdeveloped jaw, excessive hair growth, and cleft palate may all occur.

There are other physical abnormalities that occur with CdLS. Many symptoms affect the arms, legs, fingers, and toes. The most common of these abnormalities are small hands and feet in proportion to the rest of the body. Limbs may not develop fully on one or both sides. Severe, but rare, instances of this can mean that hands or forearms do not grow at all. Fingers that taper towards the end, abnormally positioned thumbs, missing fingers and curved pinky fingers are also symptoms of Cornelia de Lange Syndrome.

CdLS can also cause problems in the stomach and intestines. For example, it can cause abnormal intestinal twisting. This can be severe enough to cause a full obstruction. Intestinal obstruction can be fatal if not treated. Sometimes the esophagus and lining of the esophagus are affected. This can cause inflammation and a narrowing towards the stomach. This causes difficulty eating or keeping food down. A similar narrowing can also develop where the stomach connects to the small intestines. This can be serious when eating and digestion are affected. Malnutrition can occur when there are problems with the gastrointestinal tract. This can be even more dangerous because kids with CdLS tend to be small and weigh less.

Kids with CdLS may also suffer from cardiovascular, respiratory, and autonomic nervous system issues. There are some heart abnormalities associated with the syndrome. Chronic respiratory infections are common, as well. It is important for kids with CdLS to avoid the flu because of their higher risk for complications. The autonomic nervous system controls the automatic functions of the body. This includes everything from breathing to sleeping. With autonomic nervous system dysfunction, the brain may not control automatic functions well. In CdLS, this may mean seizures or nystagmus (uncontrollable movements of the eye).

There are many other physical signs and symptoms of Cornelia de Lange Syndrome. I cannot cover everything. If you are interested in learning more, I suggest rarediseases.org. It is the mecca of rare disease information.

Intellectual Signs and Symptoms of Cornelia de Lange Syndrome.

CdLS may also cause issues with intellectual development and coordination. This can include psychomotor retardation, as well as intellectual disability. Psychomotor retardation means that the child may have difficulty developing mental-muscular coordination. Simply put, this means that they may struggle to develop motor skills. As far as intellectual disability, it can range from mild to severe, and may impact the child’s behavior. Behavioral issues may include screaming, biting, and self-harm behaviors like hitting themselves.

What Causes Cornelia de Lange Syndrome?

While CdLS can be genetic, the majority of cases are due to a gene mutation that is not inherited. There are five different genes that are associated with Cornelia de Lange Syndrome. In 60% of the cases, the cause can be traced to the NIPBL gene. The remaining 40% may be traced to different genes. CdLS does not seem to affect one sex more than the other. Both girls and boys are affected.

There are two ways that CdLS can get inherited. It can be an autosomal dominant condition, which means that you can develop the condition even if only one parent has the gene. The other way is as an x-linked condition, which means that it gets passed down through the X chromosome. Cornelia de Lange Syndrome is a rare disease, and affects about 1 in every 10,000 babies born. Because it can be inherited, there are families that may have more than one child born with CdLS.

What are the Treatment Options for Cornelia de Lange Syndrome?

Like many other diseases, the treatment focuses on the specific symptoms. This is called supportive treatment. Since CdLS affects so many different systems, children may have teams of specialists that all work together to treat them. The type of specialists that make up the team will depend on the symptoms. For some symptoms, there may be more permanent solutions. Issues such as a cleft lip or cleft palate can be surgically corrected. Some heart problems that develop from CdLS can be corrected with surgery. Gastrointestinal issues can also be helped with surgery.

There are medications available to treat certain symptoms. It is important to note that treating the symptoms and treating the disease are different. There are no treatments designed to specifically treat the syndrome or all the symptoms. Medications can treat things such as seizures and infections. They can also treat urinary issues, gastrointestinal issues and more.

A Little Information About Rare Diseases.

Cornelia de Lange Syndrome is one of almost 7,000 rare diseases. The definition of a rare disease is a condition that affects less than 200,000 people. That number applies to the United States. Rare diseases may be genetic or random. Rare diseases have no difinitive characteristic other than the number of people affected. Some may be chronic illnesses, some may be disabilities, some may be gene mutations. They may be different than all three of these.

The biggest obstacle people with a rare disease face are finding a doctor that can diagnose them. The second biggest obstacle is finding treatment options that have a meaningful impact. As you can imagine, diseases that aren’t common have less appeal to drug companies. Developing a medication that only treats a small percentage of the population is not as profitable as one that treats millions of people. The struggle to figure out what is wrong with you and the struggle to find a medication that helps is endless. Rare disease patients may suffer for years or decades before finding their answer.

Rare Diseases and Orphan Drugs.

As I mentioned above, there are very few options for medications to treat rare diseases. There are certain pharmaceutical companies dedicated to developing medicines for rare diseases. There are also some divisions of major drug companies that develop these medicines. These medications are called Orphan drugs. The Orphan Drug Act provides funding and incentives to companies who develop them. These drugs take longer to develop because they have smaller development teams and less funding. Even so, Orphan drugs have great potential for future breakthroughs in treatment. Orphan drugs offer a lot of hope.

"When we have hope, we discover powers within ourselves we may have never known- the power to make sacrifices, to endure, to heal, and to love. Once we choose hope, everything is possible." -Christopher Reeve

Sources: Fda.gov, rarediseases.org, globalgenes.org

National Infertility Awareness Week

Personalized Cause

National Infertility Awareness Week Starts Today!

Welcome back, everyone!

Today’s post is dedicated to National Infertility Awareness Week. Infertility is a tough subject. It is surrounded by a swirling cloud of stigma, shame, guilt, depression, pain, loss, and fear. It used to be considered taboo to talk about fertility struggles openly.

Thankfully, people are much more open about their struggles now. The more open people are, the more we realize how common these issues are. There is a vast network of infertility support groups on social media. These social media support communities offer those struggling a sense of support. They also lessen the isolation felt by those who are struggling. Social media can be a powerful way to connect and support one another. These communities can be found using hashtags specific to the topic. #ttc and #infertility are a good place to start.

What is Infertility?

In simplest terms, infertility is the inability to get pregnant. The definition of infertility is the inability to get pregnant despite having regular unprotected sex for between six months and a year. The length of time depends on your age. Under age 35, it is considered infertility if you have tried to get pregnant for over a year but have not conceived. After age 35, the length of time is only six months. Fertility decreases over time after age 30. Your chances of becoming pregnant after age 35 are much lower. The length of time is decreased to six months so that any issues can be addressed quickly.

Infertility does not mean that you will never be able to have a child. Infertility is not the same as sterility. If a health problem is causing the issue it can be addressed. There are many factors that contribute to your ability to get pregnant. If one of those factors isn’t quite right, it can derail your ability to conceive. If both partners have fertility issues it can compound difficulty of getting pregnant. This occurs in around 20% of couples experiencing infertility. Medical intervention is always an option for couples that are unable to have a baby on their own.

What Causes Infertility?

Infertility can be caused by a lot of different health issues. Sometimes, there is no identifiable cause of infertility. Around 15% of couples that went through all the testing were unable to find any source for their struggle. Both men and women can have issues with fertility. It tends to affect both men and women pretty equally, but the causes are very different.

What Causes Infertility in Men?

The biggest cause of infertility in men is a problem with sperm. There are a lot of things that can affect sperm count or sperm quality. A low sperm count can make conception very difficult, if not impossible. A normal sperm count ranges anywhere from 15 million to 200 million sperm per millimeter. A low sperm count is considered anything under 15 million. A low sperm count doesn’t mean you can’t get pregnant, it means it may take more tries. It’s a numbers game. The more attempts, the higher the odds. Another issue men can experience is low sperm motility. Low sperm motility just means that they don’t move quite as well. If the sperm aren’t strong swimmers, it makes it more difficult for them to reach the egg.

Sometimes external factors can affect a man’s sperm count or quality. Testicular injury can affect the production of sperm. Sperm count will typically return to normal as long as no permanent or long-term damage is done. Something as common as heat can also affect sperm. A recent study by Fertility and Sterility showed that the heat produced by electronics can affect sperm motility. It even found that it causes damage to the DNA in the sperm. If you put your laptop on your lap, be sure to use a special fan that goes under it.

Another common external factor that can affect sperm is medication, drugs, and alcohol. There are lots of different kinds of medications that are known to cause infertility. This is because they affect the production of sperm. Medications used to treat anxiety and depression, supplemental testosterone, anabolic steroids, hair loss treatments like Propecia, erectile dysfunction medicine, chemotherapy, and more can affect sperm. Heavy drinking, smoking cigarettes or marijuana, and other illegal drugs can also impact fertility.

What Causes Infertility in Women?

Infertility in women gets a little trickier. There are a lot of things that can affect a woman’s ability to get pregnant. The biggest issue for women is not ovulating . If ovulation doesn’t occur, the egg doesn’t release from the ovary. No egg means no baby. One of the most common causes is a condition called Polycystic Ovarian Syndrome. It can also be a result of long-term birth control pills use. Ovulation will usually return to normal after a few months off of the birth control.

Polycystic Ovarian Syndrome, or PCOS, falls under the category of problems with ovulation. PCOS is a disease that causes hormone imbalance. The hormone imbalance causes issues with ovulation. PCOS is one of the most common causes of infertility in women. PCOS is more common in obese women because of an associated insulin resistance. Other medical issues that affect ovulation are hypothalamic dysfunction, premature ovarian failure, and excess prolactin production. Most of these issues can be treated with hormones.

Another common cause of infertility is Endometriosis. Endometriosis is a condition that causes endometrial tissue to travel and grow outside of the uterus. Endometriosis can also affect the uterine lining. This can prevent a fertilized egg from implanting in the uterus. Endometriosis can cause scarring wherever it occurs. Scarring within the uterus or fallopian tubes can make it difficult for the egg to implant. There is an increase in fertility immediately following surgery. The surgical treatment to remove endometriosis can cause scarring later on. The most common symptoms of endometriosis is very heavy and very painful periods.

Uterine and cervical issues are also potential causes of infertility. The most common uterine problems are fibroids and myomas. Fibroids and myomas are benign polyps or tumors that develop. These non-cancerous growths can prevent an egg from implanting. Sometimes, they can grow near the fallopian tube and block the opening. Other uterine and cervical issues can occur at birth or during development. The uterus can be shaped abnormally. There is a cervical malformation called cervical stenosis. Cervical stenosis means that the cervix is narrower than it should be. This can make it difficult for the sperm to reach the uterus.

Unexplained Infertility.

Generally speaking, infertility is broken up into thirds. One third of infertility cases are due to female infertility. One third is due to male infertility. The remaining third is due to either a combination or unexplained infertility. There isn’t always a clear and direct cause of infertility. There may be a few minor issues that all intersect when trying to conceive. Some factors that can contribute to infertility are age, weight, smoking, alcohol, caffeine, past sexually transmitted infections, and stress. Most of these factors can be minimized by simple lifestyle changes.

Are There Tests to Diagnose the Cause of Infertility?

There are many diagnostic tests to figure out what is causing your infertility. For women, the first step is determining if infertility is being caused by ovulation issues. This is done with a simple blood test. The blood test measures the level of progesterone in the blood. The body produces more progesterone after ovulating. The doctor may also test for other blood levels, such as prolactin. There are also at-home ovulation prediction kits. These kits test for the increase in luteinizing hormone that is produced before ovulation.

Other tests may be done depending on what the blood tests show. If the tests show a problem with ovulation, the doctor may order other hormone tests in addition to ovarian reserve testing. Ovarian reserve testing is done to determine how many eggs there are and the quality of those eggs. Women over 35 are more likely to have these problems. If the tests show that ovulation is normal, other tests can be done to find out what else may be preventing pregnancy. These tests include hysterosalpingography, ultrasound, hysteroscopy and laparoscopy. These will look for abnormalities in the uterus, fallopian tubes, and ovaries.

Can You Treat Infertility?

There are many things you can do to treat infertility. There are a handful of medicines that can stimulate ovulation for women. There are also other medications that used to treat specific issues like PCOS or high prolactin levels. In short, once you determine the source of the struggle, there are options to treat or fix the problem. If the issue stems from a structural problem, growth, blockage, scar tissue or endometriosis, there are surgical options to improve the issue.

If the issue can’t be corrected or improved with any of these therapies there are other methods. These methods are called reproductive assistance. Reproductive assistance is for people who have not been able to improve the cause of their infertility. It is also for couples who have been unable to determine the cause of infertility. The most common reproductive assistance methods are Intrauterine insemination and IVF.

Intrauterine insemination is a method that works by placing sperm inside the uterus around ovulation time. IVF is considered the most effective assisted reproductive method. IVF is a little more involved than intrauterine insemination. It requires egg retrieval and daily hormone injections. The eggs are combined with the sperm in a lab. Fertilized eggs are then implanted into uterus. If all else fails, there are always options such as adoption, sperm donation, egg donation, and surrogacy. If you want to become a parent, there is a way to make that happen.

It is important to realize that infertility is a fairly common problem. About one in eight couples will struggle with infertility. One of the biggest issues with infertility is the stigma surrounding it. Because infertility is personal in nature, some people try to hide their struggle and put on a brave face. Infertility is not a failure or a flaw. It is simply an obstacle, and it can be overcome with the help of a doctor. Remember to be kind to yourself, keep hoping for the best, and stay optimistic. One way or another, everything will be okay.

Thank you for reading! Check back in soon for a new post.

XOXO, PC

Sources: WebMD, Mayo Clinic