By Neo Kolane
Twenty-month-old Tlhohonolofatso Tlakane of Ha Mabote is in a precarious situation. She was diagnosed with biliary atresia three months after her birth on January 18, 2022.
Biliary atresia is a childhood disease of the liver in which one or more bile ducts are abnormally narrow, blocked, or absent. It can be congenital or acquired.
The symptoms of biliary atresia usually appear by the age of two to six weeks and include a yellowish coloration of the skin and whites of the eyes, abnormally pale stools, and dark urine. Infants may also have a swollen stomach and/or abnormal enlargement of the liver.
Overall survival with a native liver (not transplanted) ranges from 30-55 percent at five years of age; and 30-40 percent at 10 years of age. Experts say approximately 80 percent of patients with biliary atresia will require liver transplantation by the age of 20.
Baby Tlhohonolofatso’s condition is deteriorating by the day, and she is in urgent need of a liver transplant.
Her mother, Lerato Tlakane, told theReporter that Tlhohonolofatso was born jaundiced and underwent the Kasai procedure when she was 28 weeks old. The procedure was not successful, and that meant she had to have a liver transplant at a later stage.
Kasai procedure involves removing the blocked bile duct and gallbladder and replacing them with a segment of the child’s own small intestine.
Lerato took out medical aid in June 2022 but, since her child’s is a chronic illness, the requirements is that they were given a two-year waiting period.
“I covered Tlhohonolofatso under the medical aid scheme hoping to get help when the time for her liver transplant arrives, but I was told she is still on a two-year waiting period, time she does not have given her present condition.
“We approached the ministry of health earlier this month only to be told there were no funds for international referrals since this condition can only be treated in India.
“We resorted to putting word out there to the public in the hope that people will assist us. So far the family has contributed M 434,419.40; the treatment requires M945, 336 inclusive of surgery, accommodation, VISAS and air tickets. We settled for Rela Hospital or Apollo Hospital in India because it is cheaper than in South Africa where it costs R1,987,415.59,” Lerato noted.
Tlhohonolofatso is currently admitted at Queen Mamohato Memorial Hospital (QMMH) where doctors are stabilising her after her tummy and legs became swollen.
Her parents are perfect matches and suitable candidates to donate organs for the live transplant.
“We request people of goodwill to help us raise funds to save our daughter’s life. They can do so via Eco-cash: 69181364; M-Pesa: 59523464 or our Standard Bank Lesotho account: 9080007064418,” Lerato added.
Elsewhere, 21-year-old Mosa Mavuso of Teyateyaneng in the Berea district was diagnosed with Ehlers-Danlos Syndrome (EDS) in June last year. This is a group of hereditary disorders that affect the connective tissues of the body. Connective tissues provide strength and flexibility to the skin, bones, blood vessels, and other organs.
Mavuso says her eye sight sometimes becomes blurred and she forgets names of people and a lot of other things.
She told this publication that at first, nobody knew what was wrong with her as an episode would see her experiencing difficulties with breathing and couldn’t walk, forcing her to remain seated. Her body would inexplicably swell up.
She later learned the episodes were triggered by a heart valve problem.
“I went to a government hospital and was given medication without being told what was afflicting me. It subsequently turned out that I had been misdiagnosed and the doctors had treated me for osteoarthritis,” Mavuso said.
She then tried a private hospital in Maseru where she was put on a treatment regime of bi-weekly injections to address her walking problem. This didn’t work either.
Mavuso changed clinics again, but the bunch of pills could still not cure her. To compound her woes, she was now getting ‘gas-lighted’ by doctors.
Mavuso and baby Tlhonolofatso have one thing in common. They suffer from what medical experts call ‘rare diseases’.
These affect a small percentage of the population. Some of the rare diseases found in Lesotho are EDS, lupus, haemophilia, cerebral palsy, neurofibromatosis, rheumatoid arthritis, Myasthenia gravis and nephrotic syndrome.
It was not until she met Nthabiseng Ramoeli that it dawned upon Mavuso that she actually had a rare disease.
Ramoeli is the founder and chief executive officer of the Rare Diseases Lesotho Association.
She made it possible for Mavuso to meet a doctor who would eventually diagnose her with EDS. A lot of things became to make sense. Her liver was unable to perform its primary function of detoxification, as EDS affects the liver’s ability to detoxify the body by disrupting the enzyme pathways inside liver cells.
According to Ramoeli, rare diseases are particularly difficult to diagnose and can take an average of 20 years to figure out.
“It is better when a patient knows they have a rare disease. Many patients usually say they are sick but do not know what is wrong with them, and as a result no one believes them, even doctors, as they dismiss them as ‘crazy’.
“The average patient with a rare disease has at some stage been told they are making it all up. Then there is the psychological aspect; it is not an easy conversation because people do not understand rare diseases.
“What hurts is that people take too long to be diagnosed. Counselling is essential to get over the trauma because medical gas-lighting is a real phenomenon,” she said.
Ramoeli noted that only a few people with such conditions are financially stable. However, the issue is not about the finances involved in the condition; they just need support and guidance with specialists.
“Eighty percent of Rare Diseases Lesotho Association members have money issues, so we need to start raising funds.
“We have helped about 100 patients get diagnosed and receive surgeries such as organ transplantation. As for children with rare conditions, they are always in hospital. Even if they do undergo surgery, they need to go to hospital often,” she indicated.
Ramoeli revealed that many rare diseases are progressive; the older a patient gets, the worse the disease becomes. When the body is not strong enough, all vital organs could be affected.
She revealed that there is a dire dearth of specialists in Lesotho, which makes it hard to manage and treat rare diseases.
“It is a huge setback when a person with a rare condition is unable to get out of the country to see a specialist. Eighty percent of our patients do not get treated in Lesotho; only people with haemophilia have their own specialized clinic at Queen II hospital. So, haemophiliacs do not have to go out of the country for treatment.
“My message to people with rare conditions is, if you have been diagnosed it can get very lonely, given that many people do not understand you condition.
“You must know you are not alone; you should get a proper support system because it is better to fight when supported by people who understand your situation,” she concluded.
Meanwhile, the Haemophilia Association of Lesotho (HAL) says it is making efforts, through advocating with policy makers and raising awareness around bleeding disorders, to facilitate the establishment of comprehensive Haemophilia treatment centres in the country.
Haemophilia is not curable. Effective treatment has become available only in the last two decades, mainly due to the improvement of technology to extract the relevant protein from donated blood and administering it to affected patients.
“Some persons with haemophilia were infected with the HIV virus, due to a small percentage of donated blood having been contaminated. Although the screening, testing and modern methods of sterilisation of all donated blood prior to usage has improved to an extent that no case of infection is known since these methods have been employed, the thought does place additional social strain on the families concerned,” HAL says on its website.
In another development, the principal medical scientist from the ministry of health, Sejojo Phaaroe, told this publication that some rare diseases are congenital, and their causes are known.
Phaaroe said the occurrence of rare diseases stands at one in 1,500 people, and this means they are not afforded the required priority.
“We do not have specialists in the country hence people go outside the country; the government’s planning does not see view this as a priority. People with such conditions have rights.
“There are no services nor facilities for rare diseases. Because of their ratio few people get sick and health professionals do no take such conditions seriously. The government preaches universal health coverage but no action is done.
“People with rare conditions need special care units and their medication is expensive. Some die undiscovered,” he pointed out.
Phaaroe insisted that the conditions need to be incorporated into the National Health Strategic Plan to pave way for a strategy and action plan to investigate them and acquire equipment.
He pleaded with society not to hide rare disease patients.
