How To Help
Care To Help?
The following patients appeal for assistance for their medication, treatment, life-saving therapies and medical equipment.
MPS Hunter Syndrome
MPS Hunter Syndrome also known as mucopolysaccharidosis II (MPS II) is a rare inborn error of metabolism characterized by deficiency of an enzyme known as iduronate sulfatase. This enzyme breaks down specific long sugar molecules in the body called glycosaminogycans (GAGs) that are found in many parts of the body such as the bone, joints, heart valves, etc.
Treatment:
- Enzyme Replacement Therapy (ERT)
- Supportive management of complications such as: pneumonia, obstructive sleep, apnea, ear infections, etc.,
- Rehabilitation therapy.
Longevity w/out meds: 15-20 years
Dominic Renee Dabu, 2 years old, afflicted with MPS Hunter Syndrome – looking for sponsor/s for his enzyme replacement therapy. Doctors said he has a great chance of surviving if he could be treated at an early age, unlike his brother Ivan Rey, 8 yrs old, who has advanced complications.
Carlito Arbas, 8 years old, – afflicted with MPS Hunter Syndrome – needs a wheelchair.
Apert Syndrome
Apert Syndrome (a craniosynostosis syndrome) is a genetic defect and falls under the broad classification of craniofacial/limb anomalies. It can be inherited from a parent who has Apert, or may be a fresh mutation. It occurs in approximately 1 per 160,000 to 200,000 live births.
Apert syndrome is primarily characterized by specific malformations of the skull, midface, hands, and feet. The skull is prematurely fused and unable to grow normally; the midface (that area of the face from the middle of the eye socket to the upper jaw) appears retruded or sunken; and the fingers and toes are fused together in varying degrees.
Alejandro Saguin Penaco, 3 years old, afflicted with Apert Syndrome. He needs help for the following;
- Hand surgery,
- Transportation subsidy from Mindanao to Luzon and vice versa, and
- Medicines after the surgery
Alejandro is not mentally retarded but has physical abnormalities. He has club feet and hands. He had his craniofacial surgery last 2008 at the PGH and doctors said he needs another reconstructive surgery by time he reaches 10 to12 years old. Hand surgery is presently needed.
Adrenoleukodystrophy (ALD)
Adrenoleukodystrophy (ALD), a rare, genetic disorder characterized by the breakdown or loss of the myelin sheath surrounding nerve cells in the brain and progressive dysfunction of the adrenal gland.
Chloe Dizon, 3 years old, afflicted with ALD, need help for the following:
- Lorenzo’s oil treatment. After two months of Lorenzo’s oil treatment, Chloe’s blood sample will be sent to Maryland USA to check if the oil lowered his plasma VLCFA. If the trial is successful, the oil will be a maintenance for him.
- Funds for MRI scan& anesthesiologist’s fee.
Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare inherited metabolic disease that is characterized by levels of the amino acid phenylalanine. If left untreated, excess levels of phenylalanine can cause mental retardation, seizures, movement disorders, and other serious health problems. The earlier these children are diagnosed and treated, the less risk of permanent damage.
Shaina Tayag, 2 years old, afflicted with PKU, needs medicine Tetrahydrobiopterin (BH4).
Treatment:
- Tetra-hydrobioptenn,
- Levo-dopa,
- 5-Hydroxy-tryptophan,
- Therapy
- Anticonvulsants. Deficiency of iduronate sulfatase leads to the accumulationof GAGs in the above organs causing their dysfunction.
Maple Syrup Urine Disorder (MSUD)
Maple Syrup Urine Disorder (MSUD) is a metabolic disease that causes branched chain amino acids (leucine, isoleucine, & valine) to accumulate in the body, creating a toxic effect that can lead to brain swelling, neurological damage, and death. The disease derives its name from the sweet smell of the urine.
Jean Kathleen Agustin, 9 years old, afflicted with Maple Syrup Urine disorder (MSUD), needs funds for dextrose and feeding tube
Treatment:
- MSUD formula [3 to 4 days per can],
- Plasma Amino Acid test [at least once a month],
- Leucine level [at least once a month]
- Therapy
Longevity w/out meds: 7-10 days
Patients with the following rare diseases are also looking for sponsors to help defray the cost of their enzyme replacement therapy (ERT):
Gaucher Disease
Gaucher Disease. Twins Erika and Fatima Ligsay, 10 years old, afflicted with Gaucher disease, an inherited illness caused by a mutation in the glucocerebrosidase gene leading to the deficiency of glococerebrosidase. Deficiency in glococerebrosidase enzyme leads to the accumulation of glococerebrosides in the brain, liver, spleen, skeleton, and other parts of the body leading to dysfunction of these organs.
Longetivity w/o meds: Type I: 6-80 y.o.; Type II: 2 y.o.; Type III:2-60 y.o.
Pompe Disease
Pompe Disease. Juan Magdaraog, 31 years old, afflicted with Pompe disease, a rare neuromuscular genetic disorder that occurs in babies, children, and adults who inherit a defective gene from their parents. There is a defect in a gene that is responsible for making an enzyme called acid alpha-glucosidase (GAA) which is either missing or in short supply. Patients suffer progressive and debilitating muscular weakness resulting in severe physical disability and dependence on ventilatory support system. The heart and lungs eventually become weak and patients finally succumb to heart and/or pulmonary failure.
Longetivity w/o meds: Infantile form – 12 months; Delayed onset – 2nd and 3rd decade of life.
For more information regarding the patients, how to send your donations, or how else you can be of further help, please contact:
Sally Bernardo
Patient Welfare Services Coordinator
Philippine Society for Orphan Disorders, Inc.
Telefax No. +632 725-6519
Mobile No: +63918-4350820
Email Address: info@psod.org.ph
24-D Goldland Plaza Condoinuim, Eisenhower Street, Greenhills, San Juan, Metro Manila
