Cystic Fibrosis (CF)

Cystic Fibrosis (CF) is a progressive, life-shortening genetic disease that effects how the body makes and manages mucus and sweat. This effects how the lungs, digestive system, and various other body parts work. With CF, the body makes mucus that’s too thick and sweat that’s too salty. This dense mucus can clog the lungs making it hard to breathe, and may also block the pancreas, so food won't digest well. Someone can sweat away too much of the salt they need for the body to work properly. It most critically affects the lungs, because, instead of being expelled by a thin, slippery surface, bacteria sticks to the mucus, resulting in persistent inflammation and infections. Then, the lungs may get too damaged to work properly, so every effort must be made to keep them healthy.

CF is a serious disease that can be life-threatening, but it’s different for everyone. Symptoms can be mild for some people and severe for others, varying from patient to patient. The key is to get treatment as early as possible, maintain a disciplined regimen and go to an authorized CF center for regular check-ups. There are many ways to ease symptoms and manage the condition. The good news is that many advances have been made since the disease was first discovered and medical research has done much to improve the lives of people dealing with CF.


CF is an autosomal recessive genetic disease which means both boys and girls can have the disease, and that there must be two mutated (flawed) genes in order for it to develop, ie. both parents have to be carriers of a CF mutation.

All ethnic groups have people who have CF, but some have more than others. The frequency of carriers in the population is influenced by their place of origin, ranging between 1:20-1:100. Amongst Jews, the Ashkenazi Jews have a carrier rate of about 1:25, while it's about 1:60 for Jews of Moroccan origin. The disease is rarely found among Jews of Iraqi and Iranian origin. The carrier rate among the Arab population is around 1:26.

Everyone has a gene called CFTR, which is responsible for making the protein that controls how salt and water move in and out of the body’s cells. With CF, the CFTR gene is mutated or changed. If someone has only one copy, they won't have cystic fibrosis, but someone with CF inherits a mutated gene from both parents resulting in having two mutated genes.

Together, two mutated CFTR genes can cause the cells to malfunction making the mucus too thick or sweat too salty. It becomes a problem when the body can’t get the oxygen or nutrients it needs, or it loses too much moisture through sweat.

Scientists have found more than 2,000 different types of CFTR mutations. About 70% of the CF population has Delta F508, making it the most common mutation. But, comparatively, 51% of Ashkenazi Jews with CF have the W1282X mutation and only 27% have Delta F508.

Many western countries have newborn screening programs which diagnose babies with Cystic Fibrosis shortly after they are born. In these countries, over 75% of children with cystic fibrosis get diagnosised by the time they reach two. Newborn screening has yet to be introduced in Israel, so in general, the children are older and sicker by the time they reach us.

Less commonly, some people find out they have cystic fibrosis when they are teenagers or even adults. Today, couples can check to see if they are carriers and parents can test their babies for CF even before they’re born.

The various gene mutations can make a difference in the symptoms. As doctors learn more about the mutations, they are looking for specific treatments for each one. Already today, there are some medications available that are successfully treating CF patients based on their mutations.


Babies can show signs of cystic fibrosis soon after birth. Some early signs could be:

  • skin tastes salty
  • no bowel movements in the first 24 to 48 hours of life

Later on, symptoms could include:

  • Coughing up thick mucus
  • Weight loss or failure to gain weight ("failure to thrive, FTT")
  • Wheezing or shortness of breath
  • Getting sinus infections, bronchitis, or pneumonia often
  • Growths, called polyps, in the nose
  • Bulky, oily, or foul-smelling stool
  • Too much gas, constipation, or stomach pain
  • Low bone density

Wide, rounded fingertips and toes, called clubbing

Sometimes symptoms don’t appear until the teen or adult years. A late diagnosis may mean it is a more mild case of cystic fibrosis. In general, most people’s symptoms will get worse over time.

Later in life, cystic fibrosis can also cause pancreatitis, liver disease, or gallstones. It may also result in cystic fibrosis-related diabetes (CFRD). This is similar to type 1 and type 2 diabetes, but it’s not exactly the same. People can manage it by watching their blood sugar and taking insulin, a medicine that helps the body use sugar.

Questions the doctor may ask about the symptoms:

  • Does he have trouble breathing?
  • How often does he have trouble with digestion?
  • When was the last time he had a sinus infection, bronchitis, or pneumonia?
  • Has anyone in your family been diagnosed with cystic fibrosis?
  • Does he have any other medical conditions?

Questions you may want to ask if your child is diagnosed with CF:

  • Does my child need any more tests?
  • Do we need to see any other doctors?
  • What are his gene mutations?
  • What kind of treatments are there?
  • How will those treatments make him feel?
  • How can I keep him from having trouble breathing?
  • How can I keep him from getting lung infections?
  • How can I make sure he gets enough nutrients from his food?
  • Do my other children need to get tested?