Course FSP304- Community Health and Wellbeing.

Lesson I learnt 

I learnt something new about the illness today in one of the module I study FSP304- community health and wellbeing. (A module which talks about the health related issues in the community. It will provide us with an understanding of community health and wellbeing, issues, challenges, and effective management of lifestyle. We will be able to understand the role of ourselves as a social worker in promoting the wellbeing of individuals, their families, groups, and communities).

Ten thousand years ago Humans were hunter-gatherers. They had a short life span, but not because of epidemics; their primary problem was just finding enough food to eat. They lived and traveled in small groups and hunted and foraged for food. Their mixed diet was probably fairly balanced and nutritionally complete. Since they lived in small groups and moved frequently, they had few problems with accumulating waste or contaminated water or food.

Mythology, Superstition, and Religion

Early explanations for the occurrence of disease focused on superstition, myths, and religion. Primitive peoples believed in natural spirits that were sometimes mischievous or vengeful. The Greeks believed that the god Jupiter was angry about man accepting the gift of fire. The story is long and complicated, but Zeus crammed all the diseases, sorrows, vices, and crimes that afflict humanity into a box and gave it to Epimetheus, the husband of Pandora. Mercury was very tired from carrying his burden and gave it to Epimetheus for safe keeping. Pandora wanted desperately to know what was in the box. She waited until Epimetheus was gone. She opened the box, and all of the ills of the world flew out and spread throughout the human world. 

Project work on community health and wellbeing

Assignment

ABOUT SMA BHUTAN 

Acknowledgement 

We would like to pay our heartfelt gratitude to Palden and her mother for making us all aware of SMA and its rarity. They have imparted a lot of great knowledge on all of us and we are really grateful and wish them the best for future. We would like to thank our module tutor for assigning us with such assignment that helped us understand about our community’s health and people’s attitude towards it. We would like to thank each group members for their unwavering support and hard work in completing the project work while we were at home dealing with our own personal issues. If it was not for their linear support, this project would not have taken place. Lastly, we would like to thank and appreciate all the people who directly and indirectly supported our work to complete productively. 

Introduction

As per Greek mythology, all the illness and diseases in the world came into existence when Pandora opened the evil box Zeus made, due to the vengeful gesture of Prometheus against gods for bestowing the gift of fire upon humankind. Ever since then humans began to suffer from variant sickness and diseases. Moreover, due to rapid change in civilization and ways of living style, community health issues became prevalent. However, with passing time came a multitude of medicinal cures and methods to eliminate diseases.

There are numerous diseases of different kinds and types around the world; some are popular and prevalent in nature while others are very rare and difficult to cure. Spinal muscular atrophy (SMA) is one of those rare diseases in the world where only one over 6000 children are born with it. As rare as it is, it is also very deadliest in nature too; it also has an intense impact on general health and life of the patient.

To overcome the disorder is challenging in nature with limited exotic drugs that are extremely expensive. But no matter what kind of disease or illness a person gets, everyone deserves a life and a chance to live, all of us deserve proper health services which will proliferate our life. Everyone has the right to health and its services.

Background 

Spinal muscular atrophy (SMA) is a rare genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement making a person unable to move. The condition is named as spinal muscular atrophy since most of our nerve cells that control the muscles and motor skills are located in the spinal cord where its primary effect is on muscles. Hence, when muscles are not stimulated or when muscles don’t receive signals from nerve cells, muscles shrink making them smaller and smaller.

The medical term for things’ getting smaller is called atrophy, therefore it is named as Spinal Muscular Atrophy (SMA), a condition where muscles get smaller due to lack of muscle stimulation from spinal nerve cells.

Since SMA involves loss of nerve cells called motor neurons in the spinal cord, it is classified as a motor neuron disease. If we are to categorize it in general classification of disease, it is a non-communicable disease which will not be transmitted from any direct or indirect contacts. It is also a congenital and hereditary disease where a person is born with SMA due to unique parent or hereditary genes.

Figure 1: A child with SMA

What causes SMA?

SMA is caused by a deficiency or mutation of a motor neuron protein called SMN1 gene (survival of motor neurons) which is responsible for controlling the functioning of the body (ACOG, 2018). Since it is entirely a genetic disorder, experts say that there are 1-in-4 chances of a person to be born with SMA if both of his/her parents are carriers of one faulty copy of SMN1.

Figure 2: SMN1 gene in DNA(Picture courtesy: google)

The research says about 1 in 40 to 1 in 60 people are carriers of SMA and if we estimate it with our population of 700,000 then, there are approximately 17,500 carriers of the faulty gene in Bhutan (smaBhutan, 2021). If two faulty gene carriers happen to have a child together, there are high chances for the child to inherit both faulty genes of SMN1 and get SMA.

What are the symptoms?

SMA shows different symptoms depending on severity of the disease. Till now, it has been classified into four types:

Type 0: The rarest and the most severe form of SMA that develops while the infected baby is still in the womb as a fetus. Since the baby would have weak SMN1 gene, there would be less mobility of the baby in the womb resulting in being born with joint problems, weak muscle tone for both motor skills and breathing. There is a high mortality rate for this type because earlier the age of onset, greater the impact on motor function.

Type 1: This usually occurs to children where they are not able to support their head or sit without help. They will have floppy limbs and would have problems swallowing. This is also a severe type of SMA.

Type 2: This type of SMA affects children of 6-18 months where the symptoms range from moderate to severe. The child may not be able to sit and walk with help.

Type 3: Symptoms start to show during the age of 2-17 years and the mildest form of SMA. The child will be able to stand and walk on their own but will have problems in running or climbing. At a later age, they are most likely to be dependent on a wheelchair.

Type 4: This form of SMA starts in adulthood where it slowly weakens muscles and faces problems in twitching and breathing. Symptoms will be there for a lifetime however, they can keep moving and can even get better if they do physical therapy.

In all SMA types, it only affects the muscle and motor function. It does not have any side effects on their brain and memory power, therefore they can read, write and interpret; some of them are exceptionally bright as well.

Figure 3: Normal nerve and muscle cell and SMA affected nerve and muscle cell(Picture courtesy: google)

Is there any prevention?

So far there was no cure or prevention as such for SMA but quite recently FDA approved three medications to treat the disorder called Spinraza, Zolgensma, and Evrysdi which are taken orally, via injection or through catheter tubes (DiLonardo, M., 2020). However, it does not fully cure the disease but it helps in slowing it and making patients stronger in terms of motor functions. Moreover, the drugs are very expensive, Zolgensma is the world's most expensive treatment recorded so far.

     

            

Figure 4: Zolgensma worth $2.125 million 

 Figure 5: Evrysdi worth $2.03 million

Figure 6: Spinraza worth $625,000 (Picture courtesy: google)

Story of Palden

Palden Dikini Dorji is a fourteen years old girl in Paro who has been fighting SMA since her diagnosis in 2009 when she was only nine months old. She is one of the only two diagnosed patients of SMA in Bhutan. She suffers from type 1 SMA that is one of the severe and deadliest forms. She is not able to sit, stand, walk, write or swallow properly without help of her mother and other accessibility gadgets; she has difficulty in breathing and neck control too, causing contractures in limbs and hips limiting all of her motor movements.

Figure 7: Palden and her mother. (Picture courtesy: instagram)

Until 2021, she has been undergoing regular treatment at Kolkata due to lack of medical facilities and services for SMA in Bhutan. Palden and her mother have been struggling for years to get proper treatment. Moreover, people and health officials lacking awareness of the disease made their journey even more difficult.

Since people were not aware of this rare disease, they could not get moral support and help from the community. Every day was a struggle for them, there are no proper treatment and mobility services since our community is not fully an inclusive environment for all. They would even get discrimination and backlashes from people but Palden and her mother did not let it hold them back, they rather fought back stronger.

Palden is also a school going child, she did not let the disease take her childhood and privilege to study. She bravely studies in a public school called Yoezerling School at Paro the school is built with structures that are unable to access for disabled persons but she does not let it come her way, she still attends her school in person.

She is an exceptionally bright student. She is very good in studies and also gets good grades in classes. She is also artistic too, she likes to sketch and color with different creative and abstract themes.  

         

Figure 8: Drawing made by Palden that signifies special.

Figure 9: Drawing made by Palden that signifies unity.

Challenges

Palden has undergone many challenges and is still fighting through variant hurdles. Her mother is taking every possible way to fight the disease and find a way for her daughter’s treatment. She is reaching out to as many agencies as she could via a multitude of social media platforms by making people aware of the disease and her condition.

Through support from people, the petition initiated for Palden was finally heard by Roche; the world's largest biotechnical company of pharmaceuticals. They have now promised to help Palden in her SMA treatment journey and even offered a special discount for the expensive drug. The very reason for Palden's story to be circulated in the public has been fulfilled.

However, the fight is not over, Palden needs a total sum of NU. 4,966,680/- to buy the drug which would help strengthen her muscles and better her condition. Via the information disseminated on social media, people are able to donate. The donation poll is still ongoing, and people are sharing the news to as many as they can to help Palden as soon as possible.

With increase in her height, the expenses will grow even higher, moreover she is prone to every normal sickness such as flu or fever but due to her weak immune system, a normal and mild illness is deadly. She would even miss her classes for months as she often got sick affecting her education too.

Figure 10 : Palden in her posture corrector suit that helps her sit

As shared on the social sites, her mother shares how emotionally and financially difficult it is to be on SMA journey. The treatment or even to get access to a small mobility gadget is extremely expensive and the frustration of not being able to do anything for her daughter throws emotional turmoil.

Before they created awareness on SMA, it was way more difficult for them. The lack of public’s awareness created storm of discrimination and stigmatization against Palden and the call for help became dire. Moreover, the inaccessibility of certain facilities in the community made Palden’s life harder. Lack of wheelchair, cart, or lack of ramps in schools and other settings made mobility outside of the house harder

Figure 11: Palden being carried through flights of stairs to get access to school toilet (Picture courtesy: instagram)

Palden's condition is very rare in the country and her mother mentioned in her interview with Kuensel (2021) that medical professionals of Bhutan are unaware of SMA and have not treated any SMA in past decades. Due to lack of medical facilities, Palden had to travel to India for treatments every three months but due to the pandemic, she could not go. She has not undergone any SMA treatment during the soaring pandemic situation in the country, which worsens her condition over time. 

“Palden needs help to visit the restroom and to feed. She needs to depend on others for every small thing and that makes her even weaker mentally. She would not show but every individual who is in this condition would have experienced the same and that is more tough to fight than SMA” says the mother. Palden is losing sense of her hands and feet movement as she needs to get treated immediately but she couldn't help but to just lay on bed and wait until the right amount is available for the treatments. 

However, after making a voice over the situation the family is in, many people came forward to help them which the mother and Palden herself shared their utmost gratitude and appreciation too.

Figure 12: A flower drew by Palden as a note of gratitude and appreciation

Responses and Interventions

Spreading awareness

Mother and her journey started spreading awareness on the condition since it was a rare disease in Bhutan. In social media platforms like facebook and Instagram, they have created a page titled ‘Spinal Muscular Atrophy Bhutan’ and ‘SMA Bhutan’ primarily to create awareness on the rare disease. They share the conditions and situations of Palden through social media and keep the viewers updated on how she is doing. Everything about Palden is reviewed in those two pages and they share the support needed and support rendered for Palden’s treatment.

        

Figure 13: Social accounts on facebook and instagram

Support from family

Especially her mother who has always been with her and supported her throughout the journey. Even when there was no medical cure or any services in the country to better her condition, her mother would think of many other alternatives such as home-made remedies to help improve her daughter’s deteriorating condition.

Figure 14: Palden blowing bubbles in her cup of milk to maintain her respiratory functions. (Picture courtesy: google)

It was her mother who was dauntless of sharing her daughter’s condition, speaking the truth and being brave. Her mother is the one who first raised her voice all alone whereby many saw and joined her leading the voice to get louder where many more people listened. In the beginning, it gave them a hard time to cope in a community since people lack basic awareness and morals towards special needs but it was the support from her mother and her family where all barriers were broken and many people came in support of her.

 Raising funds for her daughter’s treatment

They received a good number of donations from the public on Palden’s ‘Go Fund Me’ page. From this money, one of their friends in England managed to buy the friendly equipment for Palden. A suction machine was bought to help her swallow her saliva that sucks from her mouth stopping from choking. Addition to that, more than one hundred pieces of tubing for the machine were bought. Via the fund received from Go Fund Me page, they were also able to buy more equipments such as Therabite to assist Palden’s jaw contractures, inflatable neck ring for neck support, air pressure leg splints, a specialist pump blow up equipment, vitamins and other powdered food to help maintain the weight of Palden which was otherwise losing due to lack of equipments.

 

Accepting, supportive and Inclusive society

Especially her friends, teachers and her school were supportive, accepting and inclusive of Palden. Her friends at her school wrote to Roche (pharmaceutical company) begging for their help with Palden and to provide her access to compassionate-use treatment. Even on her school page, they even made awareness about her condition and further seeked support from Roche. They have always shown positive energy and included Palden as any other normal child.

Namgay Zam, the journalist, even started a petition to Roche in fighting for life-saving treatment and it became the fastest signed petition in Bhutan. They even wrote an email to Roche where it was finally replied and got utmost support by Roche India for her treatment. Palden and her mother are now in Perth, Australia receiving advanced medical support and Roche even gave Palden a special discount offer for the expensive SMA drug and they are now seeking donations from the generous public with prior approval from MoHCA and Department of Law and Order to carry out the donation.

Figure 15: Petition initiated by Namgay Zam

Spinal Muscular Atrophy was also addressed in Bhutan National News for the first time on 20th October 2021. It was the time where barriers were broken down and stigmas were hopefully removed.

Support from across the worl

Around the world, people from SMA communities have supported Palden. Those countries include Turkey, America, England, Ireland, Taiwan, Vietnam, Canada, France, Italy, Malaysia, India and Spain to name a few. The SMA community worldwide is being affected and daily messages of support are reaching Palden in love and prayers. Palden also receives sponsors across the world and in their page; they have acknowledged the page titled ‘We Carry Keven’ for sponsoring the WCK backpack carrier for Palden. The support to Palden’s treatment didn’t limit to only her family and Bhutan but it spread all across the world.

 

   

Figure 16: A funding page created by a fellow supporter across the sea to help Palden AND An approval letter of donation from MoHCA.

Suggestions to Resolve the Issue

Rarer a disease, difficult it is to get treatment since there are not many services and facilities to combat and even if there were, it is way expensive to avail. Rarer a disease, less the awareness of it in public and harder it becomes to empathize. Nevertheless, there is always a silver lining, there are alternatives to help ease it and the following are a few suggestions of our group to help ease or resolve the case.

1/ Donation for treatment

There is neither specialist to treat her disease nor medicine are available within Bhutan. Since SMA is a rare disease and its medications are expensive, it becomes difficult to get treatment. It is possible that a small droplet of water can one day become an ocean and with this notion, forming a group to make a small contribution can make a vast difference in someone’s lives.

Currently, she is waiting for the NU.4,966,680/- to go for the treatment that is very expensive. The only way to make the amount is through donation and for now she has SMA Bhutan social media page which is helping her to address the budget constraints.

Our group members have also supported her page by sharing links on different media to reach the kind souls with the intention to meet her required amount as fast as possible.

2/ Networking with agencies

Everyone is born with the capability to do different things in unique ways, the person may not be able to walk like us, but he or she has amazing artistic skills. In order to let the person recognize their strength, we have different agencies who bulwark the oppression of their skills and support them to further enhancement of skills.

It would be better to enroll in an agency like Ability Bhutan Society or other international agencies, so that she can get the necessary help and moral support from the agency. As there will be people who can deal better with such rare diseases.

3/ Support from MoH ( Ministry of Health)

The government is working towards improving health services in the country where they even tend to send and support the patients abroad for further treatments.

It seems like the girl did not receive any special support from the ministry of health despite the repeated mention and tagged on her page for the support. So there is a need to do direct consultation with the MoH, though the country is going through a lot of health expenses due to covid, we believe there is still something that they can do for her.

4/ Psychological support to patient

When the person goes through the progression of SMA, it is sure to experience behavioral and psychiatric problems, there are some reported cases of anxiety disorder in SMA patients.

Therefore, counseling services should be made available to them, where the patients can get total awareness of the condition and its impact on their lives, and emotional support to overcome the stress and anxiety during the hard time of SMA progression.

5/ Psychological support to caregiver

Caring for a chronically ill child is a significant burden and it gives a lot of stress to them. Achieving a diagnosis would be life altering and stressful for families so, there is a need for frequent counseling services to the family in order to make them persistent, resilient and determined.

6/ Physical therapy to patient

Spinal muscular atrophy is a disease that affects the motor skills, therefore providing physical therapy can help patients to develop muscle strength and movement abilities to function at the highest level possible.

7/ Material support

The patients will go through so many movement difficulties and there are some equipment that help them to make their movement easy. Furthermore, it will be convenient for the caregiver to take care the patient. The patients should be equipped with mobility products such as wheelchairs, walkers, standers, orthotics, etc. to at least make their life easier.

8/ Accessibility to the services

All the social services should be made accessible to the patients by making pavements for wheelchair persons hence they could go anywhere without any hindrance. So they can avail and enjoy services like normal people do. Especially accessible pavement or ramps hospital and schools are the priority, even the house of patients should be made disabled friendly.

9/ Advocacy

Treating people equally with no judgmental attitudes should be installed in the society by various advocacy programs and imparting awareness on the diseases. Though the disease is rare but can also happen to anyone hence it is important to know about the disease and be supportive of each other through hard times. 

Conclusion

We can never tell when life turns their back on us. Life is very unpredictable and misfortune-events are so inevitable. The life Palden has to go through is very unfortunate to both of her family and herself, they are struggling a lot due to the rare disease. The challenges they face, backlashes they get from orthodox community, and the will and determination they need to have during the entire stage is very gruesome for anyone. However, they did not let those challenges stop them from trying and due to their bravery and optimism, they have come a long way. Right now, they are at a better place and people are trying their best to help her too.

Health is important and should be given prior priority and as mentioned in the constitution, every man has the right to health and its services. No one should be deprived of it, even if it’s the rarest kind of disease or even if there is no cure, they deserve to try and fight, they deserve to be treated and given the best of services, they deserve to be treated well and right. Everyone is special, everyone is important and no health shall be compromised.

References 

DiLonardo, M. (2020, November 4). Spinal Muscular Atrophy. WebMD. Retrieved from https://www.webmd.com/brain/spinal-muscular-atrophy#1 

SMABhutan. (2021, December 17). To be able to interpret feelings into art is a gift. [Instagram]. Retrieved from https://www.instagram.com/p/CXlgnquMkFs/ 

SMABhutan. (2022, February 28). Firsty sorry for our absence. [Instagram]. Retrieved from https://www.instagram.com/p/CahVNHRMlgD/ 

 The American College of Obstetricians and Gynecologist. (2018, October). Carrier Screening for Spinal Muscular Atrophy (SMA). Retrieved from

 https://www.acog.org/womens-health/faqs/carrier-screening-for-spinal-muscularatrophy 

Zam, N. (2021, October 20). Spinal Muscular Atrophy - A Rare Disease. Kuensel. Retrieved from https://kuenselonline.com/spinal-muscular-atrophy-a-rare-disease/