Family Stories – JOURNEY OF MUHAMMAD WASIQ

JOURNEY OF MUHAMMAD WASIQ

(DoB: 17 May, 2019) – Islamabad, Pakistan

Metabolic Disorder – Propionic Acidemia

Muhammad Wasiq born on 17 May 2019in capital of Pakistan in an economically strong family. After few initial days care in one of the most equipped private hospital in Pakistan, he began to grow well without any complication. Wasiq was active, happy and a healthy child and his parents used all best parenting practices learning from his elder two brothers’ brought up specially in diet. Wasiq was active than any other child at the age of seventh months.

At seventh month, Wasiq suffered high fever for continuous eight days after which his health started to decline. In those months, he also had mild constipation at random intervals. Days came when his constipation and vomiting extended to a spell of eight days. Medical tests verified Propionic Acidemia (PA) at 12th Month. These tests are done in Pakistan in only one hospital at Karachi city. After that, every day turned out to be a challenge for the family.

Pakistan is a country where pre marriages medical genetic tests are discouraged. Health budget is not enough to respond to national needs. Private medical facilities are preferred over Government services. Screening and by birth medical tests facilities are not available in country. As a result, there are multiple medical issues spread out in country.COVID-19 had devastating impact on medical and economic conditions in country with complete lock downs and situation further deteriorated.

When Wasiq was diagnosed with PA, we were informed about the damage already done in brain by protein intake. He could not sit, speak and had wavy body movement. We needed medical advice but due to the fact that PA cases are very rare in Pakistan, we struggled to seek medical advices despite of reaching out to best hospitals in country. Until one day, we found a doctor who is the only expert in metabolic disorders in country. After couple of advices through virtual meetings, we travelled to Karachi to meet her face to face. Doctor adjusted our diet with medicines to control ammonia level. We controlled his diet and gave medicines. Soon in this phase, Wasiq started to show rashes on face and on his back which was clear indication of protein deficiency. The problem was that we were following and                       implementing doctor’s advised plan but struggled to achieve nutritional diet balance and we needed further advice.

On extensive search to solve this issue, we connected with a nutritionist who was keen to connect and had interest in metabolic probes. We shared the diet plan and medicine package with nutritional expert who readjusted the whole package and we started to see improvement in child condition. Wasiq was much stable now and now came the rehabilitation phase by assessing his complete body functions. Emphasis focused on physiotherapy, occupational and speech therapy with further confirmation of hearing loss. He can now sit with support and can move his feet with support if brought in standing posture however the backbone imbalance and jerky movement does not help much to stable him.

Present challenge is to find food and medicines which are often not available in city. Searching, tracing, order and delivery from other city take time and resources. As we know PA child follow vegan diet line but it also needs nutrients to bring diet balance, substitute formulas are hard to find. There is only one importer in country and because data of such children is not available, need & supply balance is always out. Consequently, every day is a challenge.

There is allot to be done for such children. Families of metabolic disorders have now connected through social media to help each other and extend help to meet daily needs. Country like Pakistan where infrastructure is not strong, help comes through social support of inter connected communities through welfare initiatives. Children like Wasiq are extending help to other needy children on weekly bases by sharing food and by supporting financially. The issue is taken up collectively by parents to government authorities and escalated on local media. Substantial action is awaited. Every day passes with a hope that the voices will be heard soon to get consistent support.

Written on 2nd May, 2021 by father Saqib Javed, Pakistan

PAF Awards Initial Research Grant Houten DeVita

PAF Awards $50,000 New Research Grant

 

PI: Sander Houten, Ph.D., Department of Genetics and Genomic Sciences,

Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, NY, US

 

 

 

Co-PI: Robert J. DeVita, Ph.D., Department of Pharmacological Sciences, Drug Discovery Institute,

Icahn School of Medicine at Mount Sinai, NY, US

 

 

“Substrate reduction as a novel therapeutic strategy for propionic acidemia”

Amino acid metabolism and in particular the degradation of valine and isoleucine are a significant source of propionyl-CoA, the substrate of propionyl-CoA carboxylase. Current treatment of propionic acidemia aims to decrease the degradation of valine and isoleucine through medical diets and avoidance of fasting. Drs Houten and DeVita, the investigators on this project, aim to develop a pharmacological substrate reduction therapy for propionic acidemia that limits the degradation of these amino acids. They propose to inhibit short/branched-chain acyl-CoA dehydrogenase (SBCAD) and isobutyryl-CoA dehydrogenase (ACAD8), which are involved in isoleucine and valine degradation, respectively. Inhibition of these enzymes is thought to be safe because in contrast to propionic acidemia, inherited defects of SBCAD and ACAD8 are thought to be benign conditions. In cell line models, inhibition of SBCAD using a genetic KO or an inhibitor was efficacious and led to a pronounced decrease in the propionyl-CoA carboxylase substrate. The investigators anticipate to find a few hit inhibitors of SBCAD and ACAD8 that can be further optimized and serve as a starting point for a broader translational drug discovery program for treatment of propionic acidemia.