Dravet Syndrome Seizure Treatment Options People with Dravet Syndrome often experience a variety of different types of seizures, including prolonged ones. To help, there's Fintepla, a medication approved to treat seizures caused by Dravet syndrome. Fintepla Fintepla works by targeting the brain’s electrical activity, helping to reduce the number and severity of seizures. Doctors prescribe Fintepla when other medications haven’t been effective in controlling seizures. This treatment has shown positive results in many patients, making it an essential option for managing Dravet syndrome. Medications for Dravet Syndrome Seizures Clobazam: This drug is often prescribed alongside other treatments. It helps to control seizures by calming the brain and reducing electrical activity. Valproate: This medication is used to control a variety of seizure types. However, it is not always the best choice for younger children due to its potential side effects. Topiramate: Used to prevent seizures, this medication works by affecting the brain's electrical signals. [youmaylike] Doctors may need to try different combinations of medications to find what works best for the individual. It’s important for patients and their families to closely monitor the medications and any side effects. Dietary Approaches: The Ketogenic Diet For some individuals with Dravet Syndrome, medications may not be enough to control seizures. In these cases, dietary treatments, such as the ketogenic diet, can be very helpful. The ketogenic diet is high in fats and low in carbohydrates, and it forces the body to use fat for energy instead of carbohydrates. This change in metabolism can help reduce seizures. The ketogenic diet should only be followed under the supervision of a doctor or dietitian, as it requires careful planning to ensure that the person gets the proper nutrition. Some children with Dravet Syndrome may experience a significant reduction in seizures after starting the ketogenic diet. Vagus Nerve Stimulation (VNS) Vagus Nerve Stimulation (VNS) is another treatment option for Dravet Syndrome. This therapy involves implanting a small device under the skin in the chest. The device sends electrical signals to the brain through the vagus nerve, which can help reduce the frequency and severity of seizures. The device can be programmed to give a burst of electrical stimulation when a seizure is detected, helping to stop the seizure or make it less severe. VNS is often considered when medications and diet do not provide enough seizure control. It is typically used in combination with other treatments. Surgical Options In some rare cases, surgery may be an option for treating Dravet Syndrome. If seizures are only coming from one part of the brain and medications do not help, surgery may be performed to remove that part of the brain. This surgery is called a lobectomy or hemispherectomy, depending on the area of the brain involved. Surgical options are not suitable for everyone, and doctors will carefully evaluate the risks and benefits before recommending surgery. Supportive Therapies While medications and other treatments are important for managing seizures, other therapies can be helpful in improving quality of life for individuals with Dravet Syndrome. These may include: Physical therapy: This helps improve mobility and strength, which can be affected by seizures. Occupational therapy: Helps individuals learn daily skills to live as independently as possible. Speech therapy: Helps improve communication skills, which may be affected by seizures. Ongoing Monitoring and Care Managing Dravet Syndrome requires ongoing care. It is essential for individuals with the condition to have regular check-ups with their doctor to monitor their progress and adjust treatment plans as needed. Seizures can sometimes change over time, and it is important to stay flexible with treatment options. The Best Approaches to Seizure Control While Dravet Syndrome can be challenging, there are many treatment options available. With the right combination of medications, diet, therapy and support, people with Dravet Syndrome can lead fuller lives. It is important to work closely with healthcare providers to find the best treatment plan for each individual.
Cystic Fibrosis in Adults
One of the most common autosomal recessive diseases is cystic fibrosis (CF). It occurs in 1 in 2,500 to 3,500 newborns. Does this illness sound familiar? If it does not, do not worry. In this article, you will learn about cystic fibrosis in adults, including symptoms and how it affects different organs in the body.
What is Cystic Fibrosis?
Cystic fibrosis is an inheritable disease. In order for the disease to manifest, two copies of the abnormal gene must be present. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (a gene that encodes a chloride channel) causes problems in the CFTR protein, which leads to imbalances in the salt and water inside the cell. This imbalance leads to the body producing thick and sticky mucus. Mucus is ideally fluid and runny so that it can act as a lubricant in the body, but for people with CF it tends to clog tubes, putting you at risk of other health concerns.
Cystic fibrosis is also a multi-organ disease, as its effects are seen in different organs, such as the lungs, pancreas and the other gastrointestinal organs, the sinuses and sweat glands.
1. Symptoms in Lungs
Mucus in the lungs normally helps in the lubrication and trapping of foreign substances and microorganisms. The increased viscosity of mucus brought about by cystic fibrosis leads to mucus plugging of the bronchial passages and small airway ducts. This leads to obstructive lung disease and inflammation. It also provides a good habitat for the growth of bacteria, leading to pulmonary infection. Because of its effect on the lungs, people with this condition have significant respiratory problems leading to extreme difficulty in breathing over time.
2. Symptoms in the Gastrointestinal System
Normally, the pancreas secretes enzymes that empty into the small intestine to help with the digestion of food. For patients with cystic fibrosis, this is impaired because the thick mucus secretion blocks and clogs the pancreatic ducts, leading to pancreatic insufficiency. The release of pancreatic enzymes for digestion is compromised too. The impairment due to cystic fibrosis causes greasy stools and difficulty of absorption of nutrients, especially the fat-soluble ones (vitamins A, D, E and K).
Not only that, but because the pancreatic enzymes are not released, it results in inflammation within the pancreas which can lead to destruction of pancreatic tissue and eventually pancreatic failure. Further damage of the pancreas can lead to complications that are similar to type 1 diabetes mellitus.
Duct obstruction also affects the gallbladder and liver, leading to liver cirrhosis and gallbladder disease, with an increased risk of gallstone formation.
3. Symptoms in the Sinuses and Sweat Glands
Obstruction in the sinus passages leads to increased inflammation. Cilia, which are hair-like structures that line the sinus passageways, are impaired. Cilia are part of the respiratory system’s defense and trap potentially-harmful substances, including bacteria that can lead to increased bacterial growth and sinusitis. Dysfunction also occurs in the sweat glands, and it causes the sweat in skin to have a higher salt concentration. In severe cases, this can lead to dehydration.
How is It Treated?
Cystic fibrosis can be diagnosed at birth through newborn screening tests. Because it can be detected early, treatment can also be started early and optimized. Treatment is also multi-factorial and patients are usually managed by a team of specialists.
The main goal in the treatment of cystic fibrosis is to ensure that all the organs affected by the disease are not damaged and function optimally for as long as possible.
Because cystic fibrosis has a significant impact on the lungs, one of the goals of treatment is to maintain lung function and avoid further impairment by controlling infection and inflammation.
Antibiotics are given to control infection and adequate oxygenation is provided by bronchodilators. Anti-inflammatory medications are given to control inflammation. If there are signs of respiratory distress, oxygenation and breathing are supported by using devices such as nasal cannulas or a bilevel positive airway pressure. Nutritional support is also important as malabsorption of important nutrients can lead to poor weight gain and weaker immunity. By addressing all these concerns, treatment is not only multi-factorial, but also holistic.
In Conclusion
While many people believe CF is limited to the lungs, this is not true. Cystic fibrosis in adults can occur in other areas of the body, affecting the sinus cavities and digestive tract. If you believe you are at risk, talk to your doctor as soon as possible.