Life goes on for people with ‘rare diseases’

Jacky Martinez, 37 and a mother of four, is grateful that her family goes on despite the fact that her third daughter, Pauline, 8 years old, is suffering from a so-called ‘rare disease.’

 

“Laking pasasalamat namin ng asawa ko sa Panginoon kasi dahil sa patyatyaga namin ay naging okay siya,” Jacky said, her voice cracked and tears rolled down from her eyes.

 

Pauline is suffering from Type 1 Gaucher’s disease, an illness classified as a rare genetic disease. Dr. Margarita Jimenez, regional medical director of a multinational drug company, defined Gaucher’s diseases as one which an enzyme called glucocerebrosidase is lacking, which causes a fatty substance to build up in organs like the spleen and the liver. According to the United States-National Library of Medicine, symptoms – such as spleen and liver enlargement, low number of red blood cells, easy bruising caused by decrease in blood platelets, lung disease and bone abnormalities – may appear anytime from childhood to adulthood.

 

Pauline had an irregularly bloated stomach before. She was diagnosed with the disease in 2010 after testing her extracted bone marrow. She would bear the illness for the rest of her life.

 

Currently, Pauline is among the 10 patients afflicted with Gaucher’s disorder, according to Dr. Sylvia Estrada of the Institute of Human Genetics, University of the Philippines-Manila. Only 4 of them are living, including Pauline, while six already died due to the advancement of the disease to Types 2 or 3, which exhibit symptoms like being cross-eyed, seizures and brain damage.

 

Gaucher’s disorder is one of the 24 rare disorders afflicting Filipinos for the past 18 years, according to the Philippine Society of Organ Disorders (PSOD), a seven-year-old medical non-profit organization focused on attending to patients with rare diseases.

 

Presently, 333 Filipinos have been diagnosed with the said disorders, which are mostly of genetic origin. 126 of them suffer from Maple Syrup Urine Disorder (MSUD), which is caused by deficiency in amino acids and results in very bad mental deficiency. Gaucher’s is among the top 10 rare diseases in the country.

 

PSOD also notes that one in every 20,000 Filipinos are diagnosed with such diseases.

 

Inconsistent diagnoses, other barriers

But before being diagnosed with Gaucher’s, Pauline was first found out to suffer from beta thalassemia, a blood disorder. Doctors who first saw her condition found that her blood platelet count was very low, causing her easy bleeding and bruising.

 

Because rare disorders are very uncommon to be detected, inconsistent diagnosis is one of the challenges facing patients with rare disorders, according to Dr. Sylvia Estrada of the Institute of Human Genetics of the University of the Philippines-Manila.

 

“Unlike anemia where you’ll see the patients being very pale, they’ll come in a seizure or in a coma… unless we do a specific test, we won’t diagnose it,” she explained at a forum in Manila earlier on May.

 

She added that “not every hospital is able to diagnose” these rare diseases.

 

Other barriers that affect the earlier detection of these rare diseases, as Estrada listed, were as follows:

 

–          Patients would come to consult when they reach three to five years of age;

–          Patients are not really aware that their illness is already abnormal. Estrada explained that some patients would take for granted some symptoms which are usually found in other common diseases;

–          Confirmatory tests for rare disease detection are done late due to difficulty of travel by the patients (especially if they would come from far-flung areas) and that these tests are “self-paid” by patients and their families;

–          Lack of specialists of rare diseases. Presently, PSOD recorded only 10 metabolic specialists and geneticists in the country;

–          Specialized food formulas are not available or are insufficient in the country; and

–          High cost of a treatment called enzyme replacement therapy, wherein a particular enzyme which a patient lacks would be infused.

 

Available treatments

But since being diagnosed with Gaucher, Pauline pursued with a specialized treatment which helped reduce the further enlargement of her spleen and liver.

 

Estrada attested this, as there are already available treatments for patients will rare disease, including the following:

 

–          The capacity of a specialist, particularly a metabolic specialist or a geneticist, to specify the patient’s needs and support the management of the treatment;

–          Metabolic food (i. e. special milk formulas) available in the market;

–          Specialized vitamin supplements; and

–          Enzyme replacement therapy.

 

Financial difficulty

Pauline is regularly expected for check-up at the Philippine General Hospital (PGH) every two weeks, and would visit her doctors again next week, according to Jacky. But the latter said sometimes she would fail to see her doctors due to lack of money for transportation. Jacky’s family lives in Rodriguez, Rizal, and Pauline has her check-up at PGH in Manila, an almost 50-kilometre gap.

 

Jacky said the family would often find it difficult identifying its expenses, since her husband is the only one working. “Madalas po hindi talaga naming alam kung magkakasya ang sinusweldo niya sa gastos mga pangangailangan namin at sa pagpapagamot kay Pauline,” she added.

 

“Kaya po kapag tumatawag noon ang doktor sa akin, sinasabihan kami na mangutang muna kami at sila na ang bahala sa amin pagdating namin sa PGH,” she said. “Importante raw kasi na wala kaming ma-miss sa schedule ng check-up niya.”

 

The family spends up to P1,500 per visit for medical tests and transportation going to PGH and back home. Laboratory tests for Pauline would include ultrasound, X-ray and blood test.

 

Also, she said the treatment itself would cost about P240,000 a month on medical expenses, or P80,000 per vial infused on her dextrose for her Gaucher treatment.

 

But thanks to sponsors referred to them by PSOD, mostly from drug companies offering drugs for rare disease, Jacky’s family would not be much burdened by Pauline’s medication.

 

Other pains, challenges

Just like Pauline’s family, many other families with relatives afflicted with rare diseases “barely had enough to make ends meet”, according to Juan Magdaraog, PSOD’s patient advocate who has Pompe’s disease, another rare disease wherein the buildup of glycogen (a complex sugar) in certain organs and tissues,  especially muscles, impairs one’s ability to function normally. He is currently on wheelchair and his breathing is supported by a respirator.

 

He himself had taught that he only “works just to pay his medical bills.” He currently works as a web developer and a writer. “Everything I do is put to treatment and doing the right things to live,” he added.

 

He also said that such families with members suffering with rare diseases would feel overwhelming physical, emotional and psychological pain, like his family experienced before.

 

For Pauline’s part, she was teased as a “pregnant child” due to her enlarged stomach. Jacky would just advise Pauline to ignore them in between the latter’s sobbing.

 

Magdaraog also called attention to the inability of capable doctors to get to see their patients regularly and to possess the right information needed for rare disease detection and treatment.

 

He also called on the government to create policies or systems that will give assistance to people with rare diseases, and to give incentives to medical professionals and companies that will provide assistance to them.

 

For his part, Dr. Jaime Galves-Tan, former secretary of the Department of Health, said that the greatest challenge for the health sector would be including people with rare diseases, along with indigenous peoples, older people and persons with disability in the government’s aim for universal health care.

 

The challenge, he said, still looms despite government efforts on health, the latest being the passage of the Sin Tax Reform and Reproductive Health laws, and the enrolment of indigent families to government health insurance.

 

Gov’t, PSOD responses

In response, some legislators have filed bills that would tackle about the situation of patients with rare diseases. In the 16th Congress, two senators and six congressmen passed bills which would: mandate research on rare diseases; formulate comprehensive policies; institute a center focused on these diseases; and give incentives to healthcare professionals and companies who would provide aid to rare disease patients.

 

Also, Dr. Carmencita Padilla, PSOD founding chairman, said that the group is exerting efforts to make detection of rare diseases accessible.

 

She said that newborn screening laboratories – which were mandated by law – are already present in Pampanga, Metro Manila, Batangas, Iloilo and Davao, and the organization plans to set up three more laboratories.

 

She added that the group is already identifying one hospital where a newborn screening follow-up clinic would be set up per region in the country. “We are about to open 11 by July this year.”

 

Studies showed that newborn screening could help in the early discovery of rare diseases.

 

Pauline’s present condition

At present, Pauline enjoys the summer vacation, playing dolls and kitchen toys with children of their neighbors.

 

She will be back to school this June as a Grade-4 student. Her teachers and classmates had already understood her condition after being oriented by mother Jacky. She even said that they would not even mind her condition, therefore treating her as just another pupil.

 

Unlike before that she could not run with her classmates during playtime due to fear of easy bruising, she said she could now be able to run and play with them.

 

Mary Ann Abacan, pediatrician and one of the metabolic specialists looking at Pauline’s condition, said that the latter’s specialists are still monitoring her blood platelet count, among others. Nevertheless, she believed Pauline is doing well.

 

Holding on

Jacky also told The Times she would meet other mothers at the PGH clinic who would look obviously frustrated at the present condition of their children.

 

“Kapag kinakausap ko sila, nagagalit sila kasi nahihirapan silang makita ang anak nilang nahihirapan din,” she said.

 

She tearfully continued that she would advise these mothers not to give up easily, and would compare their situations to Jacky’s own situation. She would even show Pauline’s picture before treatment to prove that there is hope for healing.

 

“Binibigyan ko sila ng lakas ng loob na magpatuloy,” she added. “Sinasabi ko sa kanila na magdasal lang sila, at iga-grant din naman ‘yun ng Panginoon.”

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