Frequently Asked Questions

Frequently Asked Questions. Photo by Season Atwater Photography

Included here are a few frequently asked questions and answers that people ask. If you would like to ask us a question just click on the box, send us your question, and we will answer it as soon as we can. We enjoy answering your questions!

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What is the Best Treatment for People Affected with PCD?

2-Sep-2017 by Debbie Jorde

Primary ciliary dyskinesia, PCD, treatment focuses on the specific symptoms and complications a person has. Overcoming challenges caused by PCD is difficult. Unfortunately, no treatment is available yet to fix faulty airway cilia.

The main goals of treating PCD are to:

Manage and treat lung, sinus, and ear infections
Removal of trapped mucus from the lungs and airways

Specialists Treat People Having PCD

A team of doctors is needed for someone who has PCD. For example, a neonatologist may suspect PCD if a newborn has breathing problems at birth. A neonatologist is a doctor who specializes in treating newborns.

A pediatrician may suspect PCD if a child has chronic sinus, ear, and/or lung infections.

An ear, nose and throat specialist, ENT, ( otolaryngologist), also may help diagnose and treat PCD. If a child has chronic sinus or ear infections, an ENT specialist may be involved in the child’s care.

A pulmonologist specialized in diagnosing and treating lung diseases and problems related to PCD. Most people who have PCD have lung problems at some point in their lives.

Heather and Logan both see a pulmonologist every three months. They have a pulmonary function test, PFT, which determines how their lungs are functioning.

A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope. This type of doctor may help diagnose PCD by looking at cilia under a microscope. This method was performed when Heather and Logan were children, however, no definite answers were found at that time.

A pathologist also may look at mucus samples to see what types of bacteria are causing infections. Heather and Logan have this done when they have a severe cold. This information can help your doctor decide which treatments to prescribe.

Treatment for Primary Ciliary Dyskinesia: Breathing and Lung Problems

Standard treatments for breathing and lung problems in people who have PCD are; chest physical therapy (CPT), exercise, and medicines. One of the main goals of these treatments is to produce a cough. Coughing helps clear mucus from the airways, important for people who have PCD. Medicines that suppress coughing are often avoided.

Chest Physical Therapy

CPT also is called chest clapping or percussion. It involves pounding your chest and back over and over with your hands or a device to loosen the mucus from your lungs so that you can cough it up. Whenever Heather and Logan were hospitalized for surgery or pneumonia, this method was used several times a day by a pulmonary physical therapist.

You might sit down or lie on your stomach with your head down while you do CPT. Gravity and force help drain the mucus from your lungs.

CPT Devices for Treatment of Primary Ciliary Dyskinesia PCD

Heather and Logan find CPT hard or uncomfortable to do. Several devices have been made to help with CPT, such as:

An electric chest clapper, known as a mechanical percussor.

An inflatable therapy vest that uses high-frequency airwaves. The airwaves force the mucus that’s deep in your lungs toward your upper airways so you can cough it up.

A small hand-held device that you breathe out through. The device causes vibrations that dislodge the mucus.

A mask that creates vibrations to help break the mucus loose from your airway walls.

Breathing techniques also may help dislodge mucus so you can cough it up. These techniques include forcing out a couple of short breaths or deeper breaths and then doing relaxed breathing. This may help loosen the mucus in your lungs and open your airways.

Heather and Logan’s Treatments

Heather and Logan use a nebulizer for their lung therapy. A nebulizer changes medication from a liquid to a mist so that it can be more easily inhaled into the lungs. Heather does this therapy two times every day, each session taking an hour. Sometimes she gets discouraged at the amount of time and energy involved, however, she knows that overcoming challenges caused by excess mucus can only be achieved when she perseveres.

Part of the therapy involves breathing out through a bronchodilator; a device that helps keep the airways open so mucus can move up more easily, followed by a lot of coughing. Coughing is a lot of work! However, Heather has learned that she coughs less in general, and breathes more easily when she does her therapy regularly.

Logan does this therapy only when he has a severe cold to prevent getting pneumonia.

Exercise

Aerobic exercise that makes you breathe harder helps loosen the mucus in your airways so you can cough it up. Exercise also helps improve your overall physical condition.

Because Heather and Logan have Miller syndrome, which causes physical disabilities with all their joints, legs and arms, and chronic pain in the back and hips, they aren’t able to exercise for their pulmonary therapy.

Medicines

If you have PCD, your doctor may prescribe antibiotics, anti-inflammatory medicines, or bronchodilators. These medicines help treat lung infections, reduce swelling, and open up the airways.

Antibiotics are the main treatment to prevent or treat lung infections. As a result, a doctor might prescribe both oral or intravenous (IV) antibiotics.

Oral antibiotics are used to treat mild lung infections. For severe or hard-to-treat infections, IV antibiotics given through a tube inserted into a vein are used. Sending mucus samples to a pathologist to analyze will help to find out which bacteria are causing the infection.

Anti-inflammatory medicines can help reduce swelling in your airways caused by ongoing infections and may be inhaled or oral.

Bronchodilators help open the airways by relaxing the muscles around them. You inhale these medicines. Patients often, use a bronchodilator just before CPT to help clear mucus from their lungs. You also may take bronchodilators before inhaling be other medicines into your lungs.

Treatments for Sinus and Ear Infections

To treat infections, your doctor may recommend saline nasal washes and anti-inflammatory nasal spray. If these treatments aren’t enough, you may need medicines, such as antibiotics.

Doctors insert small tubes into the eardrums to help drain mucus from the ears in a procedure called Tympanostomy (tim-pan-OS-toe-me). Children who have hearing problems caused by PCD may hear better after this procedure. Doctors performed this procedure on Logan’s ears when he was a baby.

Treatments for Advanced Lung Disease

People who have PCD may develop a serious lung condition called bronchiectasis. This condition often is treated with medicines, hydration (drinking plenty of fluids), and CPT. Heather and Logan both have bronchiectasis.

Doctors may recommend surgery to remove part of the lung when severely affected.

For more information about PCD:

Primary Ciliary Dyskinesia Treatment & Management

Treatment of Primary Ciliary Dyskinesia

What is an Autosomal Recessive Disease?

2-Sep-2017 by Debbie Jorde

Do you look a lot like the people in your family? I do too. Most people know this is because of genes we inherited from our parents. Some health problems are also passed down through families genes. I have two children who were born with two different autosomal recessive diseases, Miller syndrome, and primary ciliary dyskinesia, PCD.

However, for 33 years we didn’t know that two different autosomal recessive genes caused their conditions. In 2010, scientists sequenced our entire genome (all our genes). Fortunately, they found the genes that caused my children’s diseases.

Autosomal Recessive Disease

To have a child born with an “autosomal recessive disease” both you and your partner must have a mutated gene. Furthermore, you must both pass those genes on to your child.

This means that Heather and Logan‘s father (Terry), and I, both each carry a copy of both the Miller syndrome gene and the PCD gene. Heather and Logan, each, got two copies of each of the genes. They each got one Miller gene from mom and one from dad, and they each got one PCD gene from mom and one from dad.

Both Heather and Logan each got two copies of the Miller syndrome gene and two copies of the PCD gene. As a result, they both have both of the autosomal recessive diseases.

The odds of this happening are only 1 in 10, billion!

What is a Dominant Gene?

Some genes are “dominant.” You only need one from a parent to have that trait.

What is a Recessive Gene?

Other genes are “recessive.” With them, you have to inherit the same gene from both parents to be affected, as I described above.

If one of your parents passes on a recessive gene to you that can cause disease, then you become a “carrier.” Terry and I are carriers of both of the disease-causing genes.

When you’re a carrier, you don’t have any symptoms, since the other gene is normal. In fact, many people won’t know they’re a carrier without being tested.

A Child has a 25% Chance of Inheriting a Recessive Gene from a Parent

If you and your partner both have the same mutated gene, there’s a 25% chance that your child will be born with a severe disease. Anyone can carry a recessive gene that causes illness.

This risk exists for each pregnancy between these two parents. As a result, two carriers of a recessive gene gives their child a 25% chance of inheriting a copy of the Miller syndrome gene from both mom and dad, resulting in the child having Miller syndrome.

However, Miller syndrome is extremely rare. Currently, there are only 30 cases documented, worldwide, in the medical literature. The chances of a person having Miller syndrome is 1 in one million.

Two carriers of the PCD gene also gives their child a risk of 25% chance of inheriting a copy of the PCD gene from both mom and dad, resulting in the child having lung disease. The chances of a person having PCD is 1 in 10,000.

WebMD: Autosomal Recessive Disease-Topic Overview

What are Symptoms of Bronchiectasis?

1-Sep-2017 by Debbie Jorde

The rare disease Bronchiectasis (brong-ke-EK-ta-sis) is a chronic lung disease. Damage to the airways causes them to widen, become flabby, and scar. The airways are tubes that carry air in and out of your lungs.

This disease is usually the result of an infection and other conditions that injure the walls of your airways prevent preventing them from clearing mucus.

My children Heather and Logan, have bronchiectasis because they have primary ciliary dyskinesia, (PCD,) which is a genetically inherited lung disease.

With lung disease, your airways slowly become unable to remove mucus. When this happens, the mucus builds up and creates an environment in which bacteria grow. The growth of bacteria leads to repeated, serious lung infections.

As a result, each lung infection causes more damage to your airways. Over time, the airways lose their ability to move air in and out which can prevent enough oxygen from reaching your vital organs.

The damage incurred by having this disease can lead to serious health problems, such as respiratory failure, atelectasis (at-eh-LEK-tah-sis), and heart failure.

Outlook

Currently, bronchiectasis has no cure. However, with proper care, most people who have it can enjoy a high quality of life.

Early diagnosis and treatment of bronchiectasis are necessary. The sooner your doctor starts treating bronchiectasis and any underlying conditions, the better your chances of preventing further lung damage.

What is the Treatment for Bronchiectasis?

30-Aug-2017 by Debbie Jorde

Bronchiectasis treatment consists of medicines, hydration, and chest physical therapy (CPT) prescribed by your doctor. Your doctor may recommend surgery when the bronchiectasis is isolated to only a section of the lung or if you have a lot of bleeding.

Your doctor may also recommend oxygen therapy, if the bronchiectasis is widespread and causing respiratory failure.

Goals of Treatments for Bronchiectasis are to:

~Prevent complications.

Most importantly, early diagnosis and treatment of the underlying cause of bronchiectasis may help prevent further lung damage.

In addition, doctors will treat any disease associated with the bronchiectasis, such as cystic fibrosis or immunodeficiency.

Medicines

Your doctor may prescribe antibiotics, bronchodilators, expectorants, or mucus-thinning medicines to treat bronchiectasis.

Antibiotics

The main treatment for the repeated lung infections that bronchiectasis causes are antibiotics. These infections are often treated with oral antibiotics.

For hard-to-treat infections, your doctor may prescribe intravenous (IV) antibiotics. These medicines are given through an IV line, which doctors insert into your arm.

Also, your doctor may help you arrange for a home care provider to give you IV antibiotics at home.

Expectorants and Mucus-Thinning Medicines

Your doctor may prescribe expectorants and mucus thinners to help you cough up mucus.

Expectorants help loosen the mucus in your lungs and they often are combined with decongestants. These medications may provide extra relief. Mucus thinners, such as acetylcysteine, loosen the mucus to make it easier to cough up.

Hydration

Drinking plenty of fluid, especially water, helps prevent airway mucus from becoming thick and sticky. Good hydration helps keep airway mucus moist and slippery, which makes it easier to cough up.

Chest Physical Therapy

CPT is called physiotherapy (FIZ-e-o-THER-ah-pe) and is also called chest clapping or percussion. A respiratory therapist generally performs this technique, but it can also be done by a trained member of the family.

CPT involves the therapist pounding your chest and repeatedly with his or her hands or a device. This vibration helps loosen the mucus from your lungs, so you can cough it up.

You can sit with your head tilted down or lie on your stomach with your head down, while you do CPT. Gravity and force help drain the mucus from your lungs.

Some people find CPT hard or uncomfortable to do. Several devices can help with CPT such as:

• A mask that creates vibrations to help break loose mucus from your airway walls.

Some of these methods and devices are popular with patients and doctors, but little information is available on how well they actually work. A patient and doctor usually choose based on convenience and cost.

Patients can use several breathing techniques to help move mucus to the upper airway so that they can cough it up and out. These techniques include forced expiration technique (FET) and active cycle breathing (ACB).

FET involves forcing out a couple of breaths and then doing relaxed breathing. ACB is FET that involves deep breathing exercises.

Other Treatments

Depending on your condition, your doctor also may recommend bronchodilators, inhaled corticosteroids, oxygen therapy, or surgery.

Bronchodilators

Bronchodilators relax the muscles around your airways, opening them up to allow for easier breathing. You inhale most bronchodilator medicines. You will use an inhaler or a nebulizer to breathe in a fine mist of medicine.

Inhaled bronchodilators work quickly, because the medicine goes straight to your lungs, resulting in your doctor’ recommendation that you use a bronchodilator right before you do CPT.

Inhaled Corticosteroids

Your doctor may prescribe inhaled corticosteroids, which treat inflammation in the airways, if you also have wheezing or asthma with your bronchiectasis.

Oxygen Therapy

Oxygen therapy can help raise low blood oxygen levels. Nasal prongs or a mask will deliver the oxygen through your nose. You can do this treatment at home, in a hospital, or in another health facility. (For more information, go to the Health Topics Oxygen Therapy article.)

Surgery

If no other treatments have helped and only part of your airway is affected, your doctor may recommend surgery. If you have major bleeding in your airway, your doctor may recommend surgery to remove part of your airway or do a procedure to control the bleeding.

In very rare instances of severe bronchiectasis, your doctor may recommend that you receive a lung transplant to replace your diseased lungs with a healthy set of lungs.

Heather and Logan’s Treatment

Heather and Logan have received many of the treatments listed above at one time or another, and many are ongoing treatments that they use daily.

Logan does lung therapy when he is sick. Heather does lung therapy for 1 hour, two times each day. She had a severe case of pneumonia in 2008, which required surgery and several months of IV antibiotics and lung clearing therapy.

They both wash their hands often and are careful not to touch services when they are in public places.

Being sick with a common cold can be life-threatening for Heather and Logan. We are grateful that they haven’t had any portions of their lungs removed. We appreciate our doctors and all the medications and treatments used to keep them both as healthy as possible.

Source for the information above is from: The National Institute of Health: National Heart, Blood, and Lung Institute.

What are the symptoms of bronchiectasis?

Treatment for the Chronic Lung Disease Bronchiectasis

What Can I Do to Have Better Self-Esteem

3-Sep-2016 by Debbie Jorde

People often ask me how I’ve helped my children who have visible disabilities have better self-esteem. I say, “I had to learn to feel good about myself first.” Building healthy self-esteem has been a lifelong process for me.

It was during this process that I learned and began using nine steps to build self-esteem.

What Can I Do to Have Better Self-Esteem

Experiencing low self-esteem began during my early childhood. My mom said I was born with my thumb in my mouth. I couldn’t stop sucking it until I was 13 years old. I always received disapproval from my father. This didn’t help my self-perception, and on top of that, I got buck teeth.

Being the tallest kid in my class from kindergarten to high school made me stand out from the other children. In public, strangers often commented on how tall I was. I felt self-conscious and embarrassed all the time.

Although these and other childhood experiences hurt my self-esteem, they also taught me how feeling bad about myself felt.

When I became the mother of two visibly disabled children, helping them build better self-esteem became a priority. Remembering what formed my low-self-esteem helped me with this goal.

The most important step is to build higher self-esteem in yourself.

Building your self-esteem will help you succeed with your goals and create more happiness every day of your life. Overcoming low self-esteem can seem difficult, but when you remember that everyone suffers from low self-esteem in certain circumstances in their lives, you don’t feel so alone.

When you compare yourself to other people and think you don’t measure up, you develop low self-esteem. You foster unrealistic expectations and set yourself up for failure, by focusing too much on your differences and perceived flaws and failures.

9 Steps to Build Self-Esteem

There are many ways to build self-esteem. What works for one person may not work for another. Nonetheless, there are ways to overcome a negative perception of self and create a positive self-view. Following are examples of nine steps that I use that build self-esteem.

9 Steps to Build Self-Esteem.

For more information about overcoming low self-esteem read my blog article
5 Promising Steps to Self-Love and Stopping Self-Criticism

2-Min Video of Easy Mirror Work to Have Better Self-Esteem