The Unusual Clinical Profile of Three Brothers With Cystic Fibrosis Warrants a New Look at Standard CF Care

 

Science Direct recently published a Respiratory Medicine Case Report that may impact future Cystic Fibrosis (CF) treatment. The case involves adult brothers herein referred to for purposes of this article as Allen, Bob, and Carl.

The unusual feature of the three cases pertains to the brothers’ clinical profile that developed without their voluntarily participating in standard CF care clinics or guidelines. They did, however, take part in an alternative CF therapy that appeared to maintain their weight/height, lung function, and lab parameters.

Clinical care for CF is usually aggressive and includes the use of pancreatic enzymes as a countermeasure to pancreatic insufficiency caused by CF. Due to their alternate regimen, the brothers only required fifty percent or less of the suggested pancreatic enzymes.

 About HEMT

Physicians have not seen significant results from highly effective modulator CF therapies (HEMT). They do not see a major reduction in inflammation and infection from Trikafta (elexacaftor/tezacaftor/ivacaftor). But its annual cost per patient is a significant at $311,000 and rising.

Add CFTR modulators, which are drugs that focus on the underlying defect of the CF transmembrane conductance regulator for an estimated $77,143, among other costs.

In addition to the significant cost, the treatment carries a heavy burden of two to three hours a day. Therefore, attention is again turned to the three brothers’ cases.

 About Cystic Fibrosis

Cystic fibrosis is a genetic disease that affects about seventy thousand of the world’s population. The primary cause of death is respiratory failure. Median survival is currently forty-four years of age. Advanced treatments are being developed but currently, the principal approach to fighting CF is to slow lung function decline.

 The delF508 is the most common CF mutation, as it occurs in seventy percent of cases with fifty percent of those cases in the United States inherited from both parents (homozygous). Patients with the delF508 mutation experience pancreatic insufficiency plus a much deeper decline in lung function.

The three brothers have been diagnosed with delF508.

 Pulmonary issues in connection with CF often occur several times a year and usually require hospitalization each lasting two to three weeks. The brothers have not experienced these frequent hospitalizations. Instead, their experience with staph (staphylococcus aureus ) is limited to this one type of bacteria.

Case Histories

 Tests to determine clinical parameters were performed from June through August 2020.

All three brothers were born full-term and were breastfed.

CREON 5/6 (pancreatic enzymes) is the only prescription medication being used by the brothers. Beginning from childhood the brothers have used less than half the daily dose recommended for their weight.

Allen used antibiotics three times in his life, but Bob and Carl have never been prescribed antibiotics. Bob and Carl have been on a supplemental regimen of glutathione since they were two weeks old. Allen began taking glutathione when he was two years old.

Allen, Age 23

Allen, the firstborn, weighed 10 lbs. 2 oz. at birth. His mother experienced gestational diabetes during pregnancy whereby a hormone prevents the body from the proper use of insulin. The condition resolves itself after birth.

At nine months, an infection prompted the use of an antibiotic which in turn led to the diagnosis of CF and delF508, the genetic condition that involves one of two or more versions of a gene from each parent.

Approximately one year after diagnosis his parents requested that Allen be taken off CF standard of care, treatment including his attendance at the CF Clinic.

Allen continued under the care of his pediatrician relying on CREON 5 to maintain a stable weight. Alan was started on GSH (glutathione) when he was two years old. His parents noticed an immediate increase in appetite and saliva after it was introduced in his regimen.

As a teenager, Allen had three episodes of heat exhaustion that required attendance at an emergency facility. At age twenty he had an endoscopic sinus cleaning and an appendectomy at age twenty-three.

Other than the factors noted, Allen had no major clinical issues. He did, however, exhibit digital clubbing which is the result of poor lung function. Oxygen is not distributed to the fingertips or toes resulting in changes to nails and nail beds. Malabsorption is one of the characteristics of CF resulting from pancreatic issues that may have an impact on clubbing.

Bob, Age 21

 Bob was 8 lbs. 8oz. at birth. In this case, the mother was given glutathione (GSH) supplements as part of the pregnancy regimen. Bob was diagnosed with CF when he was two weeks old, has not attended the CF Clinics, and has been treated by the family’s pediatrician.

During his childhood and teenage years, Bob had not been hospitalized or used antibiotics. He joins his brothers in using a low dose of CREON 5/6 daily.

Although Bob does not have symptoms of clubbing, at times he has had respiratory viruses and develops a cough that stays with him somewhat longer than it does with his brothers.

In addition to ice hockey, as a teen, Bob participated in gymnastics, track and field, weightlifting, and cross-country running.

Carl Age 18

Carl weighed 9 lbs. 2 ounces at birth. Again, when she was pregnant with Carl, the mother supplemented with GSH.

Carl has never attended the CF Clinic nor adhered to its guidelines. Similar to his brothers, his only medication has been CREON 5/6. CREON spheres dissolve in the duodenum, the tip of the small intestine, where its enzymes break down proteins, fats, and carbs from food.

Carl has not exhibited clubbing. He also participated in ice hockey and gymnastics and had been under the care of his family’s pediatrician throughout his childhood and teenage years.

And Now the Probabilities

The doctors are obviously impressed with the clinical condition of the brothers considering the complete non-compliance of their regimen. They question the current CF guidelines. They wonder if less is truly more.

Avoidance of CF Clinics and Antibiotics

Research has shown that the number of infections is higher in CF patients attending clinics than CF patients using telemedicine. When the three brothers were infants, families gathered in the waiting room and staff was not obligated to use masks or gloves as they visited each examining room.

The brothers avoided attendance at CF clinics. In addition, Bob and Carl were able to avoid antibiotics in any form. Doctors have learned that using antibiotics indiscriminately can kill the good bacteria that live in our gut. The doctors opined that it is possible that not using antibiotics may have helped the brothers’ clinical condition and minimized their need for pancreatic enzymes.

The doctors analyzed the decision to avoid aggressively treating the brothers’ staph infection. They now feel that by tracking the severity of the infections, if they are mild and left untreated, this  may preclude the emergence of other bacteria, including bacteria that are resistant to drugs. Other standard CF treatments were avoided which gives rise to the theory that these avoidance techniques contributed to the brothers’ impressive clinical profiles.

Supplementation and Breastfeeding

Supplementation became a possible cause of preserving the clinical profile of the brothers. In addition, breastfeeding CF infants is linked to the possible preservation of lung function through the child’s fifth year.

Questioning the system caused the doctors to ask whether the entire CF Clinic concept was flawed. Does the risk of antibiotics outweigh the benefits? Are there low-cost steps that can be taken to improve the clinical profile of CF patients? And can these steps be implemented early in the infant’s life?

The doctors are to be commended for their recognition of the urgent need to consider these questions.

 

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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