Pompe India > Information > For Parents and Care Takers

For Parents and Care Takers

Pateints and parents need to play an active role to help get the care you need.You may find that many healthcare providers have never heard of Pompe disease.And those who offer supportive care may not know how to meet your specific needs. If that’s the case, it may take additional steps to get the kind of care you need. Here are some steps you can take:

■ Reach out to Pompe patient organizations Association for information, resources, and support. We can suggest therapists in your area who have been trained to treat neuromuscular disorders

■ Try to learn as much as you can about Pompe so that you can ask your healthcare providers about therapies that might be helpful for you

■ Request for Genzymes “A Physician’s Guide to Pompe Disease”. These helpful to your healthcare team who may not be familiar with Pompe disease.

1)Common Health problems of Pompe Disease.

Muscle weakness can lead to many different health problems. Different patients have different types of problem and impact. Keeping track of symptoms and getting regular checkups can also help prevent problems from becoming more serious.

a) Breathing Problems may develop slowly or come on Suddenly

Pompe Disease weakens the diaphragm, one of the main muscle used for breathing(Located just below the lung and above abdomen). It can be hard to breathe deeply, especially while lying on the back. Patients may feel short of breath and have trouble sleeping soundly. Patients may have morning headaches. It may also be hard to cough strongly enough to clear mucus from lungs. This increases the risk for lung infection such as pneumonia.

Prolonged shallow breathing can result in repiratory insufficiancy. This occurs when reduced airflow into lungs causes carbon dioxide to build up in the blood. This increases the risk of developing chest infection and respiratory failure, which means patient cannot breath on their own. Seeking treatment at the first sign of breathing problems can prevent this medical emergency.

b) Weak muscles can cause eating problems.

Pompe disease can weaken the muscles used for biting, chewing, and swallowing food. Infants who are very weak may not be able to suck from a breast or bottle. In infantile-onset disease, vomiting or regurgitation (when swallowed food mixes with stomach acids and flows back toward the throat) may also occur.

Eating problems may also prevent patients with late-onset Pompe disease from getting the nutrition their bodies need. They may lose weight or have trouble keeping

it on. If breathing problems disrupt sleep, patients may lose their appetites or be too tired to eat. Weakness of the skeletal muscles can lead to mobility problems.

Pompe disease weakens muscles throughout the body that enable patients to walk, keep their balance, stand up straight, and move freely. Increasing weakness

and lack of muscle use can make muscles stiff and tight, which can be painful. Extra stress on joints and ligaments may also cause muscle aches and lower back pain. If muscles or tendons get too tight, they can “freeze” or become fixed in one position, forming a contracture. This can prevent normal movement. Muscle weakness may also lead to the development of scoliosis, a sideways curvature of the spine, which, in severe cases, can make it harder toPompe disease can weaken the muscles used for biting, chewing, and swallowing food. Infants who are very weak may not be able to suck from a breast or bottle. In infantile-onset disease, vomiting or regurgitation (when swallowed food mixes with stomach acids and flows back toward the throat) may also occur.

Eating problems may also prevent patients with late-onset Pompe disease from getting the nutrition their bodies need. They may lose weight or have trouble keepingit on. If breathing problems disrupt sleep, patients maylose their appetites or be too tired to eat.

c)Weakness of the skeletal muscles can lead to mobility problems.

Pompe disease weakens muscles throughout the body that enable patients to walk, keep their balance, stand up straight, and move freely. Increasing weakness and lack of muscle use can make muscles stiff and tight, which can be painful. Extra stress on joints and ligaments may also cause muscle aches and lower back pain. If muscles or tendons get too tight, they can “freeze” or become fixed in one position, forming a contracture. This can prevent normal movement. Muscle weakness may also lead to the development of scoliosis, a sideways curvature of the spine, which, in severe cases, can make it harder to breathe.

2) Pompe Disease Management

Supportive care delivered by a team of health professionals and therapies can ease the burden of living with Pompe disease. Patients feel better emotionally and physically. Supportive care need to continue to be an important part of Pompe disease management even with ERT.It is important for patients to work with their healthcare team to find the specific therapies that may offer the most value.

Care coordinator

This healthcare provider takes the lead in planning and arranging for tests and disease management. This person may be a primary care physician, a pediatrician, or a specialist. Experts who diagnose and treat medical problems caused by Pompe disease

Some of the  supportive Care required and is a team approach

  • Physical Therapy -Occupational Therapy
  • Nutritional and dietary Therapy –Psychological Therapy
  • Speech Therapy -Respiratory Therapy
  • Neurologist or pediatric neurologist: diagnoses and treats neuro muscular problems
  • Cardiologist: monitors and treats heart problems
  • Pulmonologist or respiratory specialist: monitors and treats breathing problems
  • Geneticist/metabolic specialist: diagnoses and counsels family members about genetic diseases
  • Gastroenterologist: treats digestion and feeding problems
  • Orthopedist: treats joint and bone problems, such as scoliosis and contractures Providers who address psychosocial and practical needs
  • Social worker or psychotherapist: offers emotional support and assists with practical matters or financial concerns
  • Genetic counselor: provides guidance on genetic issues, such as family planning, carrier testing, and prenatal screening

 

Respiratory Therapy

Respiratory therapy can provide the critical support needed to manage breathing problems. A respiratory therapist can teach exercises to strengthen breathing muscles. As the muscles used for breathing get weaker,mechanical ventilation may be needed. Mechanical ventilation uses machines that support breathing by sending air to the lungs. It may be provided in 1 of 2 ways.

Noninvasive ventilation may be used to manage early-stage breathing problems. Portable machines supply air through a mask that fits over the nose or both the nose and mouth. At first, a ventilator may be needed only at night while you sleep. As breathing problems become more severe, the ventilator may be needed during the day as well. Two types of noninvasive ventilators are often recommended for people with Pompe disease. They are bilevel airway pressure (BiPAP) ventilators and continuous positive airway pressure (CPAP) ventilators. Both allow you to vary the amount of air delivered to the lungs while you inhale. This way, your muscles are still doing some of the work of breathing. CPAP ventilators provide positive pressure that is constant when a patient inhales and exhales. This can require more work for the muscles to exhale. For people with Pompe disease, the CPAP machine is generally used to treat sleep apnea (when breathing stops for short periods during sleep).

Invasive ventilation provides more intensive respiratory support to infants, children, and adults. It is used when a serious lung infection or worsening breathing problems result in respiratory failure. In these emergency situations, there is often an urgent need to get air into the lungs as quickly as possible. This may be done manually by inserting a tube directly into the windpipe through the mouth or nose, called intubation (in-too-BAY-shun). It may also be done surgically by inserting the tube into the windpipe. This procedure is called a tracheostomy (tray-key-OSS-toe-me). The breathing tube is then connected to a ventilator that provides breathing support.

Dietary therapy- A registered dietitian can help you plan well-balanced meals to get the calories and nutrients you need. To help prevent muscle wasting in patients with late-onset Pompe disease, doctors may prescribe a high-protein, low-carbohydrate diet. This diet is high in meats, poultry, and fish and low in breads and starchy foods. Some children and adults have had improvements in lung function and muscle strength after following a carefully supervised highprotein diet.  Combining a high-protein diet with daily exercise (also carefully supervised) may produce better results.

Tube feeding may be required for infants who are not gaining weight or for children and adults who are severely underweight or have serious swallowing or breathing problems. Liquid food is carried directly to the stomach or intestines. This can be done through a nasal tube that goes through the nose, throat, and esophagus or by a gastrostomy (gas-TROSS-toe-me) tube, or G-tube, that is surgically attached to the stomach wall. Another option is a gastrojejunostomy (GAS-troh-jee-ju-NOSS-toe-me) tube, or G-J tube, that is attached to the small intestine.

Physical therapy can improve balance, posture, and muscle tone; support mobility; maintain flexibility and range of motion; and ease muscle pain and stiffness. The goal is to help people stay healthy, strong, and mobile.The therapy may include the use of exercises, massage, machines, and adaptive devices such as foot splints or wheelchairs. Stretching exercises can improve a young child’s posture and help prevent contractures (muscle tightness). The physical therapist can help people learn new ways to sit, stand, or move around as muscle weakness progresses. The therapist can also teach people how to use different muscles to do the work of muscles they can no longer use.

Occupational therapy helps people with muscle weakness learn new ways to complete daily tasks at home, in school, and at work. The therapy may consist of specific exercises to help maintain strength and dexterity (the skill and ease with which you use your hands). It can teach how to use adaptive devices that make it easier to do activities of daily living (such as bathing, dressing, and cooking), participate in school activities, or perform job duties. Occupational therapists may also recommend special equipment or changes that can be made in the classroom or workplace to help people with progressive muscle weakness function well in these environments.

3) Treatment Cost Management- Please refer in About Pompe section.

Note:The information in this booklet is for general information only. It is suggested to take medical advice. Always discuss your questions and concerns with your healthcare provider. This is only a overview. Please contatc us in case you need a more information on this.

For further details please contact the trustees / Patent Counselor

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