Farewell, little one: A battle lost against SMA Type 1

SMA is a genetic disorder that affects the motor neurons in the spinal cord and brainstem.
Motor neurons are responsible for controlling voluntary muscle movement, including those used for walking, talking, breathing, and swallowing.

In SMA, the loss of motor neurons leads to progressive muscle weakness and atrophy (wasting away).
It is caused by mutations in the SMN1 gene, which provides instructions for making a protein called survival motor neuron (SMN).

The SMN protein is critical for the survival and function of motor neurons.
Without enough SMN protein, motor neurons die and muscle weakness develops

The severity of the symptoms can vary widely, with some individuals experiencing mild weakness and others being unable to sit up or move independently.
SMA can be classified into different types based on the age of onset and the pattern of symptoms.

Early detection of SMA [before a child is born] is possible through prenatal genetic testing and is crucial, as it can allow for early intervention and treatment, which can improve outcomes and quality of life for affected individuals.

This testing can be done through chorionic villus sampling (CVS) or amniocentesis, which are procedures that involve collecting a sample of the developing placenta or amniotic fluid, respectively.
It can also be detected through new-born screening programs, which are designed to identify infants who may have the condition before symptoms appear.

There are four types of SMA, classified based on the age of onset and severity of symptoms.
The most severe type, SMA type 1, is the most common and is usually diagnosed in the first few months of life, and if left untreated, lowers the life expectancy to just two years. SMA type 2 and 3 are less severe, with symptoms appearing later in childhood or adolescence. SMA type 4 is the mildest form and often presents in adulthood.

Nafisa began taking the medicine Risdiplam but the one she so desperately needed was Zolgensma.
Both medications are not found in Tanzania and her parents had to constantly import Risdiplam.

Zolgensma is even more expensive, $2.1M to be exact and the community fundraising efforts were made to make purchase of this drug possible.

Zolgensma is a one-time-only gene therapy treatment for children aged less than two years with SMA and the $2.1 million covers that single treatment.

The community, both local and international, banded together and gave into the gofundme.com account, the M-PESA accounts in both Kenya and Tanzania and banking accounts set up in different countries around the world.
Nafisa was close to getting this treatment but as her parents share, the blocks and hurdles of bureaucracy made it difficult for them to transfer funds for this medication and even organise transportation logistics for the drug.

Nafisa passed away at the age of 20 months, and she was scheduled to receive the treatment sometime in June, pending and red tape procedures that delayed the arrival of her medication.

Nafisa leaves behind her mother, Dr Sakina Essajee, her father, Dr Moiz Adamji and her older sister, Husseina Adamji.

Despite the ordeal this family had to go through, they remain grateful for the time they had to share with Nafisa, the community that banded around them to support them and the contributions that everyone sent them.

The letter below was written by her parents to the community:

Dear Community Members,
Thank you all for your support during our profound journey of fundraising and caring for our beloved daughter, Nafisa, who tragically passed away on May 18, 2024.

From April 2023 until now, we have reached out far and wide, and through this, we discovered that true richness lies in the heart, not merely in monetary wealth.

Individuals from every status have contributed, demonstrating the strength and compassion of our community.

We extend a special thank you to everyone who supported us.
Your unique mind set and refusal to simply follow the masses played a crucial role in our efforts.

We believe that with quicker response and less bureaucratic interference, situations like ours could have different outcomes.

The challenges in reaching governmental support were significant, and our pleas for help from various quarters, including our respected Mama Samia, seemed to go unheard.

To the large organisations that expressed their policies of not supporting individuals, I ask you to reconsider when a desperate parent stands before you.Our plea was not just our own but a cry for community action.

To my associations, MAT and EMAT, we have the power to move mountains.
While we fought tirelessly for Nafisa as individuals, unity might have brought us the strength we needed.
It’s often said that it’s better to help a million than one, but Nafisa's case was truly one in a million—a case that deserved exceptional consideration.

The phrase "sabar" (patience) is easy to say from a distance, but we invite you to put yourselves in our shoes and feel the weight we have carried.

Moreover, many children with undiagnosed SMA and other conditions continue to suffer and pass away. Why must this struggle continue without sufficient support and awareness?

Lastly, we faced numerous hurdles with financial institutions, like the Bank of Tanzania, which made the urgent transfer of funds excessively difficult due to bureaucracy.

As we move forward, let's work together to ensure that no other family has to endure what we have.
Let’s strive for a community that acts swiftly and with a united front to support each individual, especially when they are most vulnerable.

Thank you once again for all your support and solidarity. Let's continue to think differently and act compassionately.

Dr Moiz Adamji and Dr Sakina Essajee (Adamji)
Parents of Nafisa Moiz Adamji

As this family begins their healing, they encourage swift action when community members are seeking life-saving intervention.
Nafisa’s death was an unvoidable tragedy. Her story is an example that when facing the dilemna of bureaucracy or life, life should come first.