M. Rasya

19120000

funded

-200000

to go

77

donors

100% funded
Fully funded

Menderita penyakit metabolik, Rasya membutuhkan uluran tanganmu!

M. Rasya - menderita Diarrhea, Metabolic Disorder

Rasya, this boy from Lampung has a very heartbreaking story. Since he was only 22 days old, Rasya experienced repeated diarrhea until he was 1 year old. Rasya was hospitalized several times in Lampung due to diarrhea, but he never healed. Rasya's mom has changed his formula milk many times but his condition is not getting better. Rasya situation became more worrying when his parents realized Rasya seemed to not grow taller. The doctor who handled Rasya in Lampung also referred him to be taken to a central hospital in Jakarta.

  

When he was examined, the doctors suspect that diarrhea experienced by Rasya is because he has a metabolic disorder disease. Metabolic abnormalities is a disorder in the body's system functions in processing nutrients needed by the body in performing the normal function of the body. Usually, this disease is obtained since infancy or commonly called congenital abnormalities from birth. Abnormalities occur in the processing system of nutrients, in this case, is biochemical reactions that exist in the body, such as glucose processing (sugar), protein processing and other nutrient processing. Rasya also diagnosed malnutrition because of the high that is below normal for children his age.

Enforcement of the diagnosis of metabolic disorder that allegedly suffered by Rasya requires a genetic examination called clinical exome sequencing in Centogene that is not in Indonesia, so it must send blood samples abroad. The cost of genetic examination reaches 15 million rupiahs. Rasya's father worked as a private employer with minimum wage income. Of course with the dependents of family and daily needs, the cost is very expensive for him. Not to mention the transportation costs of Lampung - Jakarta and the contract of the house he had to think about during the Rasya treatment in the capital. The doctor also suggests that Rasya is given certain milk to have sufficient nutrients that add to the long row of needs that must be met.

Let's help Rasya condition to get better!

If getting help, the funds raised will be used for clinical exome sequencing checks at Centogene and milk purchases.

  • Pemeriksaan Penunjang

    Rp15.200.000

    Clinical exome sequencing di Centogene

  • Nutrisi

    Rp2.000.000

    Susu untuk 1 bulan

  • Biaya Operasional WeCare.id

    Rp1.720.000

    Biaya operasional wecare.id (10%)

Read more about WeCare.id Operational Fund

Gangguan metabolik merupakan akibat dari ketidakmampuan tubuh untuk memecah sumber makanan menjadi energi yang diperlukan tubuh. Sumber makanan dapat berupa lemak, protein, gula, dan sebagainya.Gangguan ini bersifat genetik, artinya diturunkan dari orang tua. Beberapa gangguan metabolik dapat diketahui melalui pemeriksaan rutin yang dilakukan saat bayi baru lahir.

Terdapat benyak jenis gangguan metabolik, yaitu:

  • Adrenoleukodystrophy (ALD)
  • Alkaptonuria
  • Cystinosis
  • DIDMOAD (Wolfram) syndrome
  • Glucose 6-phosphate-dehydrogenese deficiency
  • Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)
  • Inborn errors of urea synthesis
  • Kearns-Sayre syndrome
  • Maple syrup urine disease (MSUD)
  • McArdle’s disease
  • MELAS syndrome
  • Metabolic syndrome
  • Phenylketonuria (PKU)
  • Pyruvate carboxylase deficiency (hyperalaninemia)
  • Subacute necrotizing encephalopathy
  • Tay-Sachs disease (TSD)
  • Trimethylaminuria

Penyebab

Terdapat banyak sekali jenis gangguan metabolik, namun sering kali penyebabnya adalah kelainan genetik yang dapat diwariskan. Artinya, gangguan ini diturunkan dari orang tua.

Kelainan genetik ini umumnya menyebabkan hilangnya atau terjadinya kelainan fungsi enzim yang penting. Hilangnya enzim ini dapat mengganggu berlangsungnya proses metabolisme tubuh. Akibatnya, berbagai zat racun dalam tubuh menumpuk dalam aliran darah karena gagal dibuang. Kondisi inilah yang kemudian disebut dengan istilah gangguan metabolisme atau metabolik.

Sumber: https://www.klikdokter.com/penyakit/gangguan-metabolik

Kelainan metabolik merupakan gangguan pada fungsi sistem tubuh dalam mengolah zat-zat gizi yang diperlukan tubuh dalam menjalankan fungsi normal tubuh. Biasanya penyakit ini didapatkan sejak masih bayi, atau biasa disebut kelainan bawaan sejak lahir. Kelainan terjadi pada sistem pengolah zat-zat gizi dalam hal ini reaksi biokima yang ada dalam tubuh, seperti proses-proses pengolahan  glukosa, pengolahan protein dan pengolahan gizi lain.

Sumber: https://halosehat.com/tips-kesehatan/kesehatan-metabolisme/jenis-jenis-kelainan-metabolik


Want to know more about this diagnosis? Ask WeCare.id Medical Team

Patient Updates Information of this patient is not available yet

Proposed By

Medikator RSCM

RSCM

Hospitalized at

Rumah Sakit Umum Pusat Nasional Dr. Cipto Mangunkusumo
Jl. Diponegoro No. 71, Senen, Jakarta Pusat, Daerah Khusus Ibukota Jakarta, Indonesia

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