Narcolepsy is a sleep disorder that makes people very drowsy during the day. People with narcolepsy find it hard to stay awake for long periods of time. They fall asleep suddenly. This can cause serious problems in their daily routine.

Sometimes narcolepsy also causes a sudden loss of muscle tone, known as cataplexy (KAT-uh-plek-see). This can be triggered by strong emotion, especially laughter. Narcolepsy is divided into two types. Most people with type 1 narcolepsy have cataplexy. Most people who don’t have cataplexy have type 2 narcolepsy.

Narcolepsy is a life-long condition for which there’s no cure. However, medicines and lifestyle changes can help manage the symptoms. Support from others — family, friends, employers and teachers — can help people cope with the disorder.

Symptoms of this disorder:

The symptoms of narcolepsy may get worse during the first few years of the disorder. Then they continue for life. They include:

• Excessive daytime sleepiness. People with narcolepsy fall asleep without warning. It can happen anywhere and at any time. It may happen when you’re bored or during a task. For example, you may be working or talking with friends and suddenly fall asleep. It can be especially dangerous if you fall asleep while driving. You might fall asleep for only a few minutes or up to a half-hour. After waking, you’ll often feel refreshed but you’ll get sleepy again.You also may experience a decrease in how alert and focused you feel during the day. Daytime sleepiness often is the first symptom to appear. Feeling sleepy makes it hard to focus and function.Some people with narcolepsy continue doing a task when they fall asleep briefly. For example, you may fall asleep while writing, typing or driving. You might continue to perform that task while asleep. When you awaken, you can’t remember what you did, and you probably didn’t do it well.
• Sudden loss of muscle tone. This condition is called cataplexy. It can cause slurred speech or complete weakness of most muscles. Symptoms may last up to a few minutes.Cataplexy can’t be controlled. It’s triggered by intense emotions. Often the emotions that cause cataplexy are positive. Laughter or excitement may cause the symptoms. But sometimes fear, surprise or anger can cause the loss of muscle tone. For example, when you laugh, your head may drop without your control. Or your knees may suddenly lose strength, causing you to fall.Some people with narcolepsy experience only one or two episodes of cataplexy a year. Others have several episodes a day. Not everyone with narcolepsy has these symptoms.
• Sleep paralysis. People with narcolepsy often experience sleep paralysis. During sleep paralysis, you can’t move or speak while falling asleep or upon waking. It’s usually brief — lasting a few seconds or minutes. But it can be scary. You may be aware of it happening and can recall it afterward.
  

  Not everyone with sleep paralysis has narcolepsy.

• Hallucinations. Sometimes people see things that aren’t there during sleep paralysis. Hallucinations also may happen in bed without sleep paralysis. These are called hypnagogic hallucinations if they happen as you fall asleep. They’re called hypnopompic hallucinations if they happen upon waking. For example, you might feel as if there is a stranger in your bedroom. These hallucinations may be vivid and frightening because you may not be fully asleep when you begin dreaming.
• Changes in rapid eye movement (REM) sleep. REM sleep is when most dreaming happens. Typically, people enter REM sleep 60 to 90 minutes after falling asleep. But people with narcolepsy often move more quickly to REM sleep. They tend to enter REM sleep within 15 minutes of falling asleep. REM sleep also can happen at any time of the day.

Other characteristics

People with narcolepsy may have other sleep disorders. They might have obstructive sleep apnea, in which breathing starts and stops during the night. Or they may act out their dreams, known as REM sleep behavior disorder. Or they may have trouble falling asleep or staying asleep, called insomnia.

The Possible Causes:

The exact cause of narcolepsy is unknown. People with type 1 narcolepsy have low levels of hypocretin (hi-poe-KREE-tin), also called orexin. Hypocretin is a chemical in the brain that helps control being awake and when you enter REM sleep.

Hypocretin levels are low in people who experience cataplexy. Exactly what causes the loss of hypocretin-producing cells in the brain isn’t known. But experts suspect it’s due to an autoimmune reaction. An autoimmune reaction is when the body’s immune system destroys its own cells.

It’s also likely that genetics plays a role in narcolepsy. But the risk of a parent passing this disorder to a child is very low — only about 1% to 2%.

“Hemophilia is a rare disorder in which the blood doesn’t clot in the typical way because it doesn’t have enough blood-clotting proteins (clotting factors). 

The main treatment for severe hemophilia involves replacing the clotting factor you need through a tube in a vein.

This replacement therapy can be given to treat a bleeding episode in progress. It can also be given on a regular schedule at home to help prevent bleeding episodes. Some people receive continuous replacement therapy.

Replacement clotting factor can be made from donated blood. Similar products, called recombinant clotting factors, are made in a laboratory, not from human blood.”

MAYO CLINIC (https://www.mayoclinic.org/diseases-conditions/hemophilia/diagnosis-treatment/drc-20373333)

Treatment Options for Bleeding Disorders

There are many different types of therapies for bleeding disorders, and new ones are in development. Each person may respond to a treatment in their own way, so it is important to work closely with your hematologist to find a treatment that works for you.

Factor replacement therapies: Often referred to as “factor,” these products use a molecule that is either similar to natural factor found in humans (recombinant) or use an actual human molecule (plasma derived.) These treatments increase the amount of factor in the body to levels that lead to better clotting, and therefore less bleeding. The therapy is taken intravenously via an injection into a vein. This process is also called “infusion.” There are two types of factor replacement therapies: standard half-life (SHL) and extended half-life (EHL)

• Standard half-life therapies: Standard half-life therapies are used to treat hemophilia A and B, some types of von Willebrand disease, and some rare factor disorders. Dosing can be anywhere from three times a week to every day, depending on the person.
• Extended half-life (EHL) therapies: EHL contains a molecule that has been modified in some way to delay the breaking down of factor in the body. This results in higher levels of factor in the body lasting for longer, resulting in less frequent infusions. How long the factor is effective in the body depends on the person. Extended half-life therapies are mostly used to treat hemophilia A and B.
• Bypassing agents are used to treat bleeds in people with hemophilia with inhibitors. These treatments contain other factors that can stimulate the formation of a clot and stop bleeding.

Non-factor replacement therapies: These products help prevent bleeding or assist in better clotting using other methods in the body besides factor replacement therapy. Non-factor replacement therapies include:

• Emicizumab (Hemlibra) is a therapy used to treat hemophilia A, to prevent bleeding episodes in people both with and without inhibitors. It is known as a factor VIII(8) mimetic because it mimics, or imitates, the way factor VIII(8) works. It brings together factor IX(9) and factor X (10), which allows the blood to clot. Unlike factor replacement therapy, in which the missing factor is injected directly into a person’s vein (called an infusion), emicizumab is given by an injection under the skin, called a subcutaneous injection. Emicizumab was approved by the FDA to treat people with hemophilia A with inhibitors in 2017 and for people with hemophilia A without inhibitors in 2018.

• Desmopressin (DDAVP) is the synthetic version of vasopressin, a natural antidiuretic hormone that helps stop bleeding. In patients with mild hemophilia, it can be used for joint and muscle bleeds, for nose and mouth bleeds, and before and after surgery. It comes in an injectable form and a nasal spray. The manufacturer of DDAVP nasal spray issued a recall of all US products and does not expect to begin resupplying until 2022. DDAVP is used to treat von Willebrand disease and mild hemophilia A.
• Aminocaproic acid (Amicar) prevents the breakdown of blood clots. It is often recommended before dental procedures, and to treat nose and mouth bleeds. It is taken orally, as a tablet or liquid. MASAC recommends that a dose of clotting factor be taken first to form a clot, then aminocaproic acid, to preserve the clot and keep it from being broken down prematurely. This can be used to manage bleeding in people with hemophilia A, B and VWD.

Gene therapy is a way of treating a genetic disease or disorder by providing people with working copies of the gene to correct the disease or disorder. There are different approaches to gene therapy, including gene transfer and gene editing.

Currently, gene therapies for Hemophilia A and Hemophilia B work differently in the body and have different results. It is important that you work with your Hemophilia Treatment Center to learn more about gene therapy, to determine if you are eligible, to make certain you understand the risks and benefits, and to ensure you have the information you need to make the best decision for you.

2023 – HEMGENIX is administered as a one-time-only intravenous infusion— delivered in 1-2 hours in an outpatient setting.

• Each dosing kit is personalized to your patient’s weight

• HEMGENIX is delivered as a single dose of 2 mL/kg body weight*

• HEMGENIX does not contain preservatives. Use aseptic technique and proper engineering controls (eg, a biological safety cabinet or isolator) according to institutional policies during the preparation and administration of HEMGENIX.

Hemophilia B gene therapy has been approved by the FDA for the treatment of adults with hemophilia B who currently use factor IX (FIX) prophylaxis therapy, or have current or historical life-threatening hemorrhage, or have repeated, serious spontaneous bleeding episodes.

“The central nervous system is made up of the brain and spinal cord. The spinal cord comprises a bundle of nervous tissue and support cells that send messages from the brain to the rest of your body. But did you know that, on average, the spinal cord ceases growing at four years of age?

And while the brain may be done growing by your teenage years, it is not considered fully developed until your mid-to-late 20s. That’s because the prefrontal cortex, responsible for planning, prioritizing, and impulse control, is one of the final regions of the organ to mature. This helps explain why teens are more likely to make poor decisions and engage in potentially harmful behaviors without considering the short or long-term risks involved.

Additionally, once your brain is fully developed, it may become more difficult to accept new ideas and change behavior. Although the reasoning isn’t completely understood, research has shown that while adolescents see increases in social vitality and openness measures, these decrease with age.

It’s a myth that you only use 10% of your brain. Rather, neuroscience confirms that the brain is always active and firing even when you’re sleeping. Another common fallacy is that brain size determines how smart you are. Intelligence is determined by the number of synapses (or connections) between brain cells, not by brain girth.

Have you heard the myth is that the brain breaks down with age?  Well, know that some cognitive functions, such as memory, may decline as you get older, other mental skills, such as comprehension, vocabulary, conflict resolution, and emotional regulation, can improve. And research has shown that when the elderly keep their minds active by exercising their brains with crossword puzzles or games like Sudoku and bingo, their intelligence may also increase.”

Penn LPS (https://lpsonline.sas.upenn.edu/features/7-fascinating-facts-about-neuroscience-and-brain-how-well-do-you-know-your-brain)

“The American Cancer Society’s estimates for soft tissue sarcomas in the United States for 2024 are:

• About 13,590 new soft tissue sarcomas will be diagnosed (7,700 in males and 5,890 in females).
• About 5,200 people (2,760 males and 2,440 females) are expected to die of soft tissue sarcomas.

These statistics include both adults and children.

The most common types of sarcoma in adults are:

• Undifferentiated pleomorphic sarcoma (previously called malignant fibrous histiocytoma)
• Liposarcoma
• Leiomyosarcoma”

American Cancer Society (https://www.cancer.org/cancer/types/soft-tissue-sarcoma/about/key-statistics.html)

Soft tissue sarcoma symptoms:

Like many forms of cancer, soft tissue sarcoma symptoms may appear at a more advanced stage of the disease, or you might not notice any symptoms at all. Symptoms, if they are present, will also vary depending on the type of sarcoma and its location.

Signs of soft tissue sarcoma include:

A lump or mass is the most common soft tissue sarcoma sign. The lump will form in the area in which the tumor is growing, and it may be accompanied by some pain if it is pressing on a nerve or muscle. Even if the lump isn’t painful, if it continues to grow, or if it is located deep within an extremity or body cavity, consult your doctor.

Uncomfortable swelling is another sign of soft tissue sarcoma, especially when it is located in the arms and legs.

Limited mobility may be a symptom of soft tissue sarcoma. Some tumors can restrict motion, such as those found in the hip, knee, shoulder or hands.

Skin lesions can occur when a sarcoma tumor breaks through the skin.

Other symptoms may be signs of soft tissue sarcoma, because a sarcoma tumor can form almost anywhere in the body and can therefore affect a variety of organs. For example, sarcomas in the abdomen may cause abdominal pain, vomiting or constipation, while sarcomas in the uterus may cause vaginal bleeding and/or abdominal pain. With gastrointestinal stromal tumors (GISTs), you may feel full after eating only very small meals, or you may vomit blood or have dark bowel movements.

Diagnosing Sarcoma:

If your doctor thinks you may have a sarcoma, you’ll probably need a full exam and tests, including: A sample of cells from the tumor, called a biopsy. A plain x-ray to imaging tests, such as a CT scan, an ultrasound, an MRI, a PET (Positron Emission Tomography) to help see inside your body. A bone scan, if you might have osteosarcoma.  Also a biopsy-several types of biopsies are used to diagnose sarcomas..

Treatment of Soft Tissue Sarcoma:

Surgery is typically the primary treatment for soft-tissue sarcoma, used to remove tumors. Chemotherapy, radiation therapy and/or targeted therapy may also be recommended, either alone or in combination with surgery, depending on the stage and extent of the disease, along with other factors.

Surgery

The goal of surgery is to locate and completely remove the soft tissue sarcoma tumor. Our pathologists then examine the tumor to determine whether or not additional treatment is necessary, and to reduce the risk of recurrence.

Chemotherapy

Chemotherapy may be used in combination with surgery and radiation therapy to treat advanced-stage soft tissue sarcoma. Chemotherapy drugs work to either destroy cancer cells or impede their ability to grow and reproduce.

At our hospitals, we are developing innovative therapies personalized to the care of each soft tissue sarcoma patient. Our medical oncologists work closely with soft tissue sarcoma patients to determine if chemotherapy is an appropriate treatment option. Throughout your soft tissue sarcoma treatment, your care team continually monitors the effect of chemotherapy on the disease, with physical exams, blood tests, CT scans, MRI scans and chest X-rays and imaging.

Radiation therapy

Depending on the type of soft tissue sarcoma you have and the extent of the disease, your soft tissue sarcoma treatment plan may include radiation therapy. Though surgery is usually the main treatment approach for soft tissue sarcoma, radiation treatments may also be used before (neoadjuvant therapy) or following surgery (adjuvant therapy).

Targeted therapy

Unlike standard chemotherapy drugs, which may affect all cells in the body, targeted therapy drugs are designed to seek out and kill specific cancer cells while sparing surrounding healthy cells. Targeted cancer therapies may be used alone, in combination with other targeted therapy treatments or with other soft tissue sarcoma treatments, such as chemotherapy, radiation therapy and surgery. Among the drugs used in targeted therapy are so-called kinase inhibitors, which target specific protein receptors that help regulate cell growth.

“Sarcomas are rare cancers that develop in the bones and soft tissues, including fat, muscles, blood vessels, nerves, deep skin tissues and fibrous tissues. According to the National Cancer Institute, about 12,000 cases of soft tissue sarcomas and 3,000 cases of bone sarcomas are diagnosed in the U.S. each year. Bone sarcomas are more common among children while soft tissue sarcomas are more common in adults.”

John Hopkins Medicine (https://www.hopkinsmedicine.org/health/conditions-and-diseases/sarcoma#:~:text=Sarcomas%20are%20rare%20cancers%20that,in%20the%20U.S.%20each%20year.)

What is Sarcoma?

Sarcoma is a rare but deadly form of cancer affecting connective tissues such as fat, muscle, blood vessels, nerve, bone, deep skin and cartilage. There are roughly 15,000 new cases in the United States each year, with a very low median age of 36 (for bone sarcomas). Survival rates are low, even in comparison to other rare cancers. Rhabdomyosarcoma, a relatively common sarcoma, has a five-year survival rate of 65%, even if caught before metastasis. If caught after metastasis, the five-year survival rate lowers to approximately 30%. This is all to say that while sarcomas are rare, they are extremely devastating.

Sarcomas are a diverse and sporadic group of tumors that have minimal hereditary influence. They are generally classified into two major groups; the group of tumor-specific reoccurring genetic mutations via specific and aberrant chromosome translocation, and the group of non-reoccurring mutations which are based on severe genetic and chromosomal instability. Both groups have altered cell growth-factor signaling pathways. As a result, the introduction of drugs which can normalize growth-factor receptors and proteins are of great interest and the primary treatment given. With improvements in these drugs, it is believed that sarcoma can move from a deadly disease to a chronic but non-life-threatening disease.

Unfortunately, the specificity of the first group of sarcomas, where specific chromosomes are improperly translocated, can often permit the sarcoma to prevail after standard treatment. This is obviously problematic but, if overcome, could spark the development of a whole new field of cancer treatment. In other words, if scientists can discover how to isolate and guide specific chromosomal arrangement, they will able to address many of the hard to treat cancers of today.

With genetic engineering it is theoretically possible to prevent cancer before it begins. However, even without moving this far into the future, the improper chromosomal translocation can provide a sort of name-tagging of the cancer cell. With the cancer cells identified, it can guide modalities aimed at destroying diseased tissue while sparing healthy tissue.

Sarcoma is an under-researched cancer whose research can help to elevate cancer treatment, as a whole. Not only would breakthroughs save the lives of countless children, it could also advance medicine, as a whole. By bringing awareness to sarcoma and the potential development its research can spark, this potential can become a reality.

Soft tissue sarcomas may develop in any tissue that connects, supports or surrounds other structures and organs in the body. Some examples of where soft tissues sarcomas can develop are muscles, fascia (the tough membrane that surrounds muscles), tendons, fat, blood vessels, nerves and synovial tissues (connective tissue that makes up the membranes surrounding joints).

Soft tissue sarcomas are rare in adults, accounting for less than 1 percent of all new cases of cancer. The American Cancer Society reports that about 12,750 new cases of soft tissue sarcoma will be diagnosed in 2019 (7,240 cases in males and 5,510 cases in females). Sarcomas can be found almost anywhere in the body.

According to the National Cancer Institute, about 50 percent of soft tissue sarcoma cases occur in the extremities (arms and legs), 40 percent occur in the trunk (back and chest), and 10 percent occur in the head and neck.

Causes of Sarcoma:

“Cleft lip with or without cleft palate is among the most common of birth defects. The Centers for Disease Control and Prevention (CDC) estimates that in the United States:

• About 1 in every 1,600 babies is born with cleft lip with cleft palate.
• About 1 in every 2,800 babies is born with cleft lip without cleft palate.
• About 1 in every 1,700 babies is born with cleft palate.”

National Institute of Dental and Craniofacial Research (https://www.nidcr.nih.gov/health-info/cleft-lip-palate)