Category Archives: Family Stories

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

Bryan K.’s Story

Bryan’s Story

Updated in 4/2022 in the Spring Newsletter

Hello everyone. I am 35 years old and I have Propionic Acidemia. Life with Propionic Acidemia is not always easy. I was diagnosed late which caused me to have a stroke at a very young age. After years of a wheelchair and walker I made a somewhat normal recovery.

Around 2012 a few days after one my kickboxing classes. I noticed my knee was swollen. I had thought it was from my kickboxing class but turns it was Lyme disease. Something that greatly affects me today. I get flair ups where my ammonia levels skyrocket, I get incredibly fatigued, and my muscles get pain that I can’t describe.

In 2015 I was having the weekend of my life at my brother’s campground until I woke up in the ICU that is. I decided to throw caution at the wind and tried my hand at alcohol. It led to me having metabolic acidosis. I was lucky not to suffer any suffer serious side effects.

That’s the thing between the Propionic Acidemia and Lyme disease you just never know what could happen! On top of my health issues I still have to deal with other real life events. Things like my parents getting divorced, the passing of my grandfather, and Covid-19.

I’ve always been into doing mindful things such as yoga and taking care of myself in general. However, it wasn’t until my parents’ relationship started to get worse that I found mindfulness meditation.  Even though I saw the writing on wall, it deeply saddled me.

I remember stumbling upon Rebekah Borucki (BEXLIFE) on YouTube. She was a meditation teacher. My favorite Mantra of hers was “I am like a boat on the ocean. My thoughts they rock me just a bit, but they never carry me away. I am anchored in the here and now!” There was something about that saying that just put my mind at ease.

From that point on I became obsessed with how the mind works and the benefits of mindfulness meditation. I learned that once you realize that all you can control is yourself, your reaction, emotions and that happiness is a choice. It’s only then will you find inner peace.

Fast forward to 2020, I had been stuck with a job that I was content with not happy with. I was working as a cashier at a food store which for me was physically exhausting. Then what turned into somewhat of a blessing, the virus hit. I knew that with my health issues retail was no longer an option for me.

Instead of going though depression and anxiety over virus I decided to continue my mindfulness journey. After taking multiple classes on mindfulness and meditation I couldn’t explain to you how much it changes your life! No longer do I stress about things I can’t not control. I now own mindfulness routine that consists of nature walk, yoga and meditation. I can honestly say that I enjoy life to fullest. Moment by Moment.

Check out my website at bepresentlifestyle.com and my facebook group “Be Present Lifestyle”

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Hello for those of you don’t know me, my name is Bryan. I am 31 years old. I was born with Propionic Acidemia.Bryan  In the beginning doctors did not think anything was wrong with me. They told my mom I was just a sleepy baby but my mom knew that something was wrong. I was officially diagnosed at Saint Cristopher’s hospital when I was only a few months old. Shortly after I would start being seen at Children’s hospital of Philadelphia.


When I was really young I suffered a metabolic stroke and was in a comma for four days. The doctors said I would never walk or talk. That was not an option for me. Remembering the days of the wheelchair, walker and speech classes reminds me to be thankful for where I am at today. I am able to walk and talk just fine. However Propionic Acidemia has it ‘s effects on me. Until the age of 24 I had a feeding tube  for drinking a special formula called Propimex – 2! Today I am able to drink it by mouth. What I like to do is mix it with two cups of whole milk with strawberry syrup. From my Propionic Acidemia I also suffer from Cardiomyopathy which effects my hart. I’m taking carvedilol 25 mg to keep it under control. I was originally on Lisinopril then I learn that it can be harmful to your kindney’s. (Important to know)

My chronic kidney disease which was not found by metabolic doctor but believed to caused by my Propionic Acidemia is at stage three. The weird thing is normally with kidney diseases they only get worse, but mine has actually gotten better. One of the big things is to drink lots of water. I try my best to drink sixty four ounces of water a day.

 

Bryan KNow a day’s my health is really good. I work as a cashier at a food store but  dream is to public speaking. I have my own apartment and exercise daily cause I know how important it is for my muscles, mind and motor skills. I like yoga but anything you can do will help. I’m a picky eater but I am trying to teach myself to eat healthier. hope this article helps give people they can a somewhat normal life with Propionic Acidemia!

Check out my blog.