Cystic fibrosis is usually diagnosed before three years of age. A late diagnosis—one in adolescence or adulthood—may indicate that the person has a mild form of the disease or their symptoms are atypical (does not follow the norm). The genetic defect that leads to CF in adult cases is often a less common variety. Since CF is usually considered a pediatric disease, many physicians may not consider it when they see older patients who may have CF symptoms. Even so, approximately 6% of the diagnoses of CF are made in adults and the number of late diagnoses is increasing.
Pathways to a Diagnosis
Your experiences with CF will be different from those of a person who had a
childhood diagnosis. The person who was diagnosed with CF as a child has been dealing with CF for years. A late diagnosis
can be a traumatic experience, one filled with uncertainty, fear, denial, and,
sometimes, relief. Generally, there are four pathways to a late diagnosis.
PATHWAY I Asymptomatic
People in this category are generally healthy before the diagnosis. A sudden, surprising respiratory illness or an investigation into problems with fertility might lead to the diagnosis. Other people in this group may be diagnosed as a result of their children having CF. People with a history of good health will often view their CF diagnosis as a crisis, and struggle to accept the diagnosis.
PATHWAY 2 Mildly symptomatic
Some people have mild symptoms that may have occasionally or frequently occurred throughout their lives. These people may see their doctors repeatedly and have adjusted their lives to on their illness. They are often surprised when what they considered a mild illness turns out to be something more serious. On the other hand, they may be relieved for an explanation to their recurring symptoms.
PATHWAY 3 Symptomatic
These people often have a history of respiratory, sinus, or gastrointestinal symptoms. These symptoms which may have been treated separately. They may have received a diagnosis of asthma, bronchitis, colitis or allergies, but were not satisfied with the diagnosis. Some people experience relief, or a justification that their suspicions were correct, when they receive the diagnosis of CF. Others are traumatized to learn they have a chronic, progressive illness.
PATHWAY 4 Suspicious for cystic fibrosis
This group of people may have suspected that they have CF but it was not diagnosed because their symptoms were too mild. They may have been perceived as being too old to have it. These people are often relieved to finally have a diagnosis. They may feel justified that their earlier suspicions were correct. They may be angry that they weren't taken seriously.
When you receive a late diagnosis of CF, you are learning something new about yourself. CF isn't something you just got, you've always had it. Developing a sense of self that includes acknowledging that you have CF may take time. You may not want to think about CF as you pursue normal lifestyles and plans. However, CF can become an important factor in your life, one that takes on greater or less significance depending on how severe it is. Many people with a late diagnosis of CF eventually find that they feel better about themselves than they did before they knew that they had CF.
Impact of CF on Your Daily Life
After the diagnosis, some people find it difficult to do all that is recommended or expected. CF is a disease that needs to be paid attention to. It is hard to go unexpectedly from little or no treatments to a program of daily medications and therapy. Finding time for these new treatments is challenging, especially for working and parenting adults. Your CF clinic's healthcare team will help you to develop routines that suit your lifestyle. You may find that having a written daily schedule can help you adjust to the new demands on your time.
Once a diagnosis of CF has been made, various medications and treatments may be prescribed - vitamins, pancreatic enzymes to aid digestion, and antibiotics to prevent and treat lung infections. Exercise is often recommended. Airway clearance techniques to remove mucous from your lungs is a daily activity for most people with CF, and nebulized (vapourized) medications may also be part of your daily regimen. Nebulized treatments include medications to help improve lung function, inhaled antibiotics to fight infection, and bronchodilators to open airways.
At some point hospitalization to treat a pulmonary infection may be required. In addition to treatment with intravenous antibiotics, frequent airway clearance techniques may be used.
Being away from your home, family, and job during hospitalization may be difficult, so you might want to speak with your physician about home care with visiting nurses.
Impact of a Late Diagnosis on Your Family
Talking to your immediate and extended family about CF may be difficult. You may be just coming to terms with the disease and the changes it has made in your life. There may be things about CF for which you are still seeking answers.
Some care centres have genetic counselors who can explain how CF is inherited. Some care centres also have informal support group meetings that you and your family can attend. You will learn that infection control is important for people with CF. As a result, infection control guidelines may have been established for the support groups; check with your care centre for more information.
If you feel that your family or others close to you might not accept or understand your diagnosis of CF, include them in your care centre visits, ask them to join you at support group meetings, and offer them educational materials.
Importance of Your CF Care Centre
Since your primary healthcare provider (your family doctor) is probably a general practitioner who may see few, if any, adults with CF, it is recommended that you seek specialized care from an accredited CF care centre. In addition to having knowledgeable and well-trained professionals in CF, accredited CF care centres are up-to-date on the latest research and ongoing studies in CF. The staff at a CF care centre has a great deal of relevant experience, a well-established support system, and access to other CF professionals worldwide.
See section on CF Team for a more detailed look at the professionals involved in CF care.
Due to the nature of CF, some CF care centres are not geared to treat adult patients. However, the number of adult CF programs is quickly increasing.
At some centres, adults attend a pediatric clinic or children's hospital or are seen by a pediatrician. Some older patients may feel awkward with this arrangement. Others find the pediatric environment nurturing and supportive. If you feel uncomfortable in your care centre, you should discuss this issue with your doctor.
Resources and Educational Materials
In addition to the material on this website, you may want to log on to Cystic Fibrosis Canada's website. There you will find relevant and updated information as well as other useful links. You can also ask about others in your area with an experience similar to yours, with whom you could contact.
It is recommended that you read the article "Adult Diagnosis in CF: Common Experiences and Their Implications for Patient Care," by Eileen Widerman, PhD, in the August 21, 1997, issue of The IACFA Newsletter. Please check with your centre for a copy or send a note by e-mail to IACFA at firstname.lastname@example.org
An additional resource for you to read is a book called, "Growing Older with CF-A Handbook for Adults" provided by Solvay Pharmaceuticals Inc. and available through most CF centres.
This section was adapted from an article prepared by Barbara Palys, Chairperson, International Association of Cystic Fibrosis Adults, Harvard, Massachusetts (in Genentech's CF Toolbox)