AUGUST 2023

ORGANIZATION FOR
RARE DISEASES INDIA
PATIENT JOURNEY STORY:
BABY SERA NILE FAY
Interviewed and written by Purvi Shah

ORDI had the distinct honor of engaging in a profound interview

with Mr. Michael Andrew, a devoted father, and the unwavering
pillar of strength for baby Sera Nile Fay. Their family's journey has
been profoundly impacted by the rare and intricate challenge of
Infantile Hypophosphatasia, an extraordinarily uncommon genetic
disorder. Through this interview, we gained insight into the
remarkable courage, resilience, and determination that define their
path.

BABY SERA NILE FAY

1. Could you explain what Infantile Hypophosphatasia is?
Infantile Hypophosphatasia is a metabolic disorder caused by a genetic mutation that inhibits the production
of the enzyme ALPL, essential for the absorption of calcium by bones and teeth, crucial for their strength.
Without treatment, this leads to the demineralization of bones and teeth, rendering them fragile and prone to
fractures. This poses a substantial risk to her life, particularly at such a young age.

2. Can you describe the journey of discovering Sera’s diagnosis and how you felt when you received the
diagnosis of Infantile Hypophosphatasia?
Sera was born on June 20th last year, a normal delivery with a weight of 3 kgs. Everything seemed fine
initially. However, around 20 days later, we noticed she wasn't able to drink her mother's milk properly,
leading us to switch to formula milk. Doctors attributed this to common issues in babies. Over time, her
weight stagnated at 3.5 kgs, despite normal activities. After numerous tests and consultations, we were led to
Dr. Parvathy at Aster Medcity Kochi. It was then that hypercalcemia was suspected, leading to tests,
admissions, and the eventual genetic test that confirmed Infantile Hypophosphatasia.

3. Sera's condition necessitates the Enzyme Replacement Therapy (ERT), which isn't available in India.
How did you navigate the challenges of sourcing and affording the treatment?
Following the diagnosis, we were confronted with the challenge of accessing the necessary treatment, ERT,
not available in India. The cost of this therapy was exorbitant, approximately 3 million dollars per year. We
initiated a public crowdfunding campaign in December, with the help of friends, family, and ORDI. This effort
allowed us to secure the funds for the first set of medicines. The treatment began in March 2023, at Indira
Gandhi Institute of Child Health, Bangalore, under the guidance of Dr. Meenakshi Bhat.

4. How has Sera responded to the treatment, and have you noticed any changes in her condition since
starting therapy?
Sera's treatment journey commenced in March with the administration of the enzyme therapy, Strensiq
(Asfotase Alfa). Fortunately, there have been no adverse reactions, and her calcium levels have remained
stable. However, since the condition has affected her ability to gain weight, the dosage of the medication will
increase with time. As long as we give the enzyme replacement therapy, Sera will be able to have a normal
life. Otherwise, her health will start deteriorating.

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5. Managing the ongoing cost of treatment seems to be a significant challenge. Can you elaborate on the financial
aspects of Sera's treatment, including the costs involved and the support you've received from friends, family, and
the community?
The cost of Sera's treatment is indeed substantial, with a 12 vial pack costing 16 Lakhs Rupees, and 15 vials needed per
month. This translates to around 2.4 Crores rupees per year. We've been fortunate to receive incredible support from
our friends, family, and the community. Crowdfunding initiatives have helped us secure the funds required for her
treatment. In addition, ORDI played a crucial role in connecting us to necessary resources.

6. Are there any ongoing research efforts, like gene therapy, for Infantile Hypophosphatasia, and how do you
envision the future for Sera and others with this condition?
Research efforts, including gene therapy, are underway for Infantile Hypophosphatasia. While gene therapy offers hope,
it's still in progress and might take several more years to materialize. Despite the challenges, we remain optimistic about
Sera's future. Our ultimate goal is to provide her with the best possible care and treatments available.

7. How do you cope with the emotional and psychological aspects of dealing with Infantile Hypophosphatasia, and
what advice would you give to families facing similar situations?
Dealing with a condition like Infantile Hypophosphatasia can be emotionally challenging, and every family navigates this
journey differently. Support from the medical community, friends, family, and organizations like ORDI can significantly
ease the emotional burden. My advice to families facing similar situations would be to seek expert guidance, connect
with support networks, and remain hopeful. Each child's journey is unique, and with the right resources, we can
overcome challenges together.

Baby Sera Nile Fay's story sheds light on the extraordinary challenges faced by families dealing with rare genetic
disorders. Through their perseverance and the support of the community, Sera's family is providing her with the best
possible chance at a healthier life. Their journey underscores the importance of awareness, research, and collaboration
in addressing the unique needs of individuals with rare diseases.

Sera's family is steadfastly raising funds to secure the next crucial set of medications that will continue to light her path
towards a healthier future. The Organization for Rare Diseases India (ORDI) is extending its support to Mr. Michael
Andrew in his valiant efforts to raise funds for Sera's treatment. Every donation, no matter how small, has the potential
to become a beacon of hope for her and countless others grappling with rare conditions.

To lend your support and donate to Sera's cause, please visit or click on this link - https://www.seranilefay.com/. Your
contribution is a gesture of empathy, solidarity, and the shared belief in the power of compassionate action. Together,
we can amplify the impact of their efforts and contribute to a brighter future for Sera and families navigating similar
challenges.

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INFANTILE HYPOPHOSPHATASIA:
UNDERSTANDING THE RARE GENETIC DISORDER
By Aditi Shirodkar

Infantile Hypophosphatasia is a rare metabolic disorder that affects bone and tooth development due to a deficiency of
the enzyme alkaline phosphatase (ALPL). This disorder, although rare, bears significant implications for those affected,
their families, and the medical community striving to comprehend its complexities.

Genetics of Infantile Hypophosphatasia:

Infantile Hypophosphatasia is caused due to a genetic mutation that leads to the deficiency of alkaline phosphatase
(ALPL), an enzyme crucial for healthy bone and tooth development. This deficiency disrupts the body's ability to regulate
the proper utilization of minerals like calcium and phosphorus. The disorder manifests in varying degrees of severity,
making it a complex puzzle for medical professionals to decipher.

Symptoms and Clinical Presentation:

Infantile Hypophosphatasia has a broad range of symptoms that often present shortly after birth or during infancy. These
symptoms include delayed physical developmental milestones, difficulty in bearing weight on legs, fractures, skeletal
deformities, and tooth abnormalities. Infants with severe forms of the disorder might exhibit respiratory problems and a
high risk of mortality. Remarkably, cognitive development is often not impacted, highlighting the intricate nature of this
condition.

Diagnosis and Genetic Testing:

Diagnosing Infantile Hypophosphatasia is a multi-faceted endeavor. Clinicians often use a combination of clinical
evaluations, blood tests to assess enzyme levels, and skeletal radiographs to gauge bone health. Genetic testing is
instrumental in confirming the diagnosis, shedding light on the specific genetic mutations responsible for the disorder.
Early diagnosis is critical to providing timely interventions and treatment strategies.

Treatment and Therapeutic Approaches:

The treatment landscape for Infantile Hypophosphatasia is evolving, albeit slowly. At present, there is no cure for the
disorder, and treatment largely focuses on managing symptoms and minimizing complications. Enzyme Replacement
Therapy (ERT) has emerged as a potential approach, aiming to supplement the deficient alkaline phosphatase enzyme.
This therapy holds promise in improving bone mineralization and potentially mitigating some of the skeletal abnormalities
associated with the disorder.

Challenges and Future Directions:

The rarity of Infantile Hypophosphatasia poses significant challenges. Access to appropriate diagnosis, treatment, and
awareness remains limited due to its rarity. Moreover, the cost of treatment, especially in countries without adequate
healthcare coverage, places immense financial strain on affected families.

Researchers and medical professionals are dedicatedly working to uncover a deeper understanding of the disorder's
mechanisms, potentially leading to novel treatment approaches. The pursuit of gene therapies and advancements in
precision medicine hold promise for a brighter future for individuals affected by this disorder.

Support and Advocacy:

The challenges faced by families dealing with Infantile Hypophosphatasia are not only medical but also emotional,
financial, and psychological. Support from medical professionals, advocacy organizations, and the broader community is
essential in raising awareness about the disorder and improving the quality of life for affected individuals and their
families.

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PAG CORNER: INDIAN RETT SYNDROME

FOUNDATION
Interviewed and written by Vaidehi Kadam

Mr. Samir Sethi, a dedicated advocate and the driving force behind the Indian Rett Syndrome Foundation. Rett Syndrome, a rare
and complex neurological disorder, remains relatively unknown to many. Through his unwavering commitment, Mr. Sethi and the
Foundation have been working tirelessly to raise awareness and provide vital support to individuals and families affected by this
condition. We'll delve into the intricacies of Rett Syndrome, the Foundation's initiatives, and the profound impact it has had on the
lives of those it serves.

Rett Syndrome is a rare disorder. Could you please explain what it is and how it impacts individuals?

Rett syndrome is a rare and complex neurological disorder that mainly affects girls. It typically
becomes noticeable when a child is around 10 to 18 months old. In simple terms, Rett
syndrome can cause a child to gradually lose their ability to use their hands for tasks like
picking up objects or playing with toys. They may also lose their ability to speak and develop
problems with walking. Other symptoms can include repetitive hand movements, breathing
difficulties, and social withdrawal. It's important to note that Rett syndrome is caused by a
genetic mutation, and there is currently no cure. However, with supportive care and therapies,
individuals with Rett syndrome can still have a fulfilling and meaningful life.

How has the Indian Rett Syndrome Foundation been working to raise awareness and support for individuals affected
by Rett Syndrome?

Over the years, our therapy programs have witnessed numerous success stories where individuals with Rett
Syndrome have made remarkable progress in their communication abilities, motor skills, and overall quality of
life. These achievements continue to inspire us to persevere in our mission to support and empower
individuals with this condition. Rhett Syndrome is known to manifest differently in each individual, which is
why our therapy programs are highly individualized. We collaborate closely with healthcare professionals to
develop tailored therapy plans that take into account the unique strengths and challenges of each person
affected by the syndrome.

What types of therapies have been found to be most beneficial for individuals with Rett Syndrome, and how
do they help improve their quality of life?

Therapeutic approaches for individuals with Rett Syndrome typically aim to manage symptoms, enhance their
quality of life, and support overall well-being. Some of the most beneficial therapies and interventions for
individuals with Rett Syndrome include a combination of physical therapy, occupational therapy, speech
therapy, and behavioural therapy. These therapies collectively contribute to improving the quality of life for
individuals with Rett Syndrome by promoting physical well-being, enhancing communication and social
interaction, reducing pain and discomfort, and fostering greater independence. The multidisciplinary
approach tailors interventions to the unique needs of each individual, optimizing their potential and overall
happiness.

What have been the most rewarding and challenging aspects of your journey with the Indian Rett
Syndrome Foundation?

Recognizing the paramount importance of the emotional and psychological well-being of patients and their
families, the Indian Rett Syndrome Foundation offers counselling and support groups to help families cope
with the emotional aspects of living with Rett Syndrome. This is based on the understanding that Rett
Syndrome is not just a physical condition but one that deeply affects the emotions and mental health of both
individuals with the syndrome and their families.
Living with Rett Syndrome can be incredibly challenging, not only due to the physical difficulties it presents
but also because of the emotional toll it takes. Families often grapple with a range of emotions, from grief and
frustration to guilt and anxiety, as they care for their loved ones with Rett Syndrome. Witnessing the struggles
and limitations of their family members can be emotionally overwhelming, and many caregivers may feel
isolated and unsupported, especially because Rett Syndrome is a rare disorder.

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These counselling and support group services are designed to provide a holistic approach to care. They offer a
safe space for families to express their feelings and fears, helping to alleviate the emotional burdens they may
carry. Additionally, they offer education about Rett Syndrome, connecting families with valuable information
and resources. Support groups, in particular, provide a sense of community and understanding as families
facing similar challenges can share experiences and offer each other advice and encouragement. Importantly,
these services also equip families with coping strategies, recognizing that maintaining the emotional well-
being of caregivers is essential to providing the best care for individuals with Rett Syndrome. In essence, this
holistic approach acknowledges that Rett Syndrome impacts not just the body but the mind and spirit as well,
and it aims to enhance the overall well-being of both patients and caregivers.

How can individuals or communities get involved and support the foundation's mission?

The Rett Syndrome Association at AIIMS Delhi plays a vital role in assisting families affected by Rett Syndrome
through a range of initiatives. They are committed to increasing awareness about Rett Syndrome among
healthcare professionals, the public, and affected families by providing educational resources, workshops, and
seminars. These efforts ensure that families have access to accurate information and understand the
condition's challenges and needs. The association also fosters a supportive community by organizing support
groups where families can connect, share experiences, and provide emotional support. For those who may not
know about Rett Syndrome and what the foundation does, we want to say this Rett Syndrome is a rare and
complicated problem that affects some people, and it's not very well known. The Indian Rett Syndrome
Foundation is a group of people working really hard to help those who have Rett Syndrome and their families.
People with Rett Syndrome and their families go through a lot, and it can be tough for them. But this
foundation is doing important things to make their lives better. So, if you don't know much about Rett
Syndrome, we ask you to take a little time to learn. When you understand it, you can show that you care and
help the foundation. You don't have to do big things; even small things like talking about it or helping to raise
money can make a big difference.

What is the current prevalence and impact of Rett Syndrome in India, and how is the Indian Rett Syndrome
Foundation addressing the needs of individuals and families affected by the condition?"

Rett Syndrome is a rare genetic disorder that affects mostly girls in India. It can lead to serious cognitive and
physical challenges, and families face many difficulties in caring for their loved ones with this condition. With
an incidence of approximately one in 10,000, getting the right medical support at the right time is a
significant challenge
The Indian Rett Syndrome Foundation is committed to helping in various ways. We focus on early
intervention, making sure that healthcare professionals and the public know about Rett Syndrome. We offer
important therapies like speech, occupational, and physical therapy, tailored to each person's needs. We also
care about the emotional well-being of both the affected individuals and their families. We provide
counselling and support groups to help families cope with the emotional side of Rett Syndrome. We believe
that supporting the whole person is vital to improving their lives.
We work closely with doctors and researchers to keep up with the latest advancements in treating Rett
Syndrome. While it's a challenging condition, we are determined to make a positive impact.

Mr. Samir Sethi's insights have shed light on Rett Syndrome and the Indian Rett Syndrome Foundation's
crucial work. Their dedication to awareness, tailored therapies, and emotional support is inspiring. Let's
remember the power of compassion and support for those with rare conditions like Rett Syndrome. Thank
you, Mr. Sethi, and the Foundation, for your unwavering commitment to a brighter future for affected
individuals.

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ORDI'S PARTNERSHIP WITH AIIMS TO

TRANSFORM RARE DISEASE PATIENT SUPPORT

The Organization for Rare Diseases India (ORDI) has entered into a formal Memorandum of Understanding
(MOU) with the All India Institute of Medical Sciences (AIIMS) to enhance support for rare disease patients.

Under this partnership, ORDI will collaborate closely with AIIMS to provide a range of non-medical services,
including patient coordination, engagement, counseling, disease awareness initiatives, fundraising, and
therapeutic interventions. This comprehensive approach aims to address the medical, emotional, and
logistical needs of rare disease patients.

The primary goal of this collaboration is to expedite rare disease patients' access to treatment by
streamlining the diagnosis-to-treatment process. By leveraging AIIMS' medical expertise and ORDI's
patient-centric approach, the partnership aims to provide faster and more holistic care.

ORDI's commitment to multi-stakeholder collaboration is evident in this partnership, which brings together
experts, patients, caregivers, and organizations to create a more supportive environment for rare disease
patients in India.

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INTERNATIONAL SPEAKER EVENT ON

NEUROFIBROMATOSIS BY ORDI
The Organization for Rare Diseases India (ORDI) recently hosted an international speaker event focused on
Neurofibromatosis (NF). With a commitment to advancing healthcare and knowledge in the field of rare
diseases, ORDI invited experts and participants to engage in discussions and learn from the best global
practices in the management of Neurofibromatosis 1 (NF1).

The event featured a keynote address and panel discussion by Professor Thorsten Rosenbaum, a globally
recognized expert in the field of Neurofibromatosis. Professor Rosenbaum's extensive experience and
innovative insights brought a wealth of knowledge to the audience.

The core theme of the event revolved around "Innovative Therapies on the Management of Neurofibromatosis
1." Attendees had the opportunity to delve into cutting-edge approaches and treatment modalities for NF1.
Professor Rosenbaum shared the latest research and advancements in the field, shedding light on potential
breakthroughs and future directions for NF1 management.

ORDI organized the event in two prominent Indian cities, Mumbai and Thiruvananthapuram, ensuring
accessibility for a wider audience. This strategic choice allowed healthcare professionals, researchers, and
individuals affected by NF1 from different regions to come together and exchange valuable insights.

The event facilitated networking and collaboration among attendees, fostering connections among healthcare
professionals, researchers, and advocacy groups. The discussions and knowledge-sharing sessions encouraged
the development of a supportive and informed rare disease community.

MUMBAI EVENT

THIRUVANANTHAPURAM EVENT

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FRAGILE X SYNDROME AWARENESS

Interviewed and written by Yashavi Gupta

Fragile X syndrome was first described by Martin and bell as a form

of intellectual disability. It is the second most common cause of
intellectual disability after Down syndrome and first most common
cause of intellectual disability in males as it impacts men more than
women. Fragile X syndrome is a genetic disorder that affects the X
chromosome and is inherited from one generation to another. It is
caused either due to mutation in FMR1 gene or repeat of a specific
DNA sequence in the gene causing it to become unstable and not
produce enough FMR1 protein, thus all the functions carried out by
FMR1 protein are not performed due to lack of FMR1 protein. Fragile
X syndrome shows 3 types of phenotype based on changes in the
gene. The most severe type is the fragile X syndrome. Other
phenotypes include fragile X associated ataxia/ tremor syndrome
and FMR1 primary ovarian insufficiency syndrome.

Individuals affected with fragile X syndrome are characterized by developmental delay, intellectual disability
and behavioral issues (anxiety and aggressive/ irritable behavior). However, some individuals may have
normal intelligence with only mild learning difficulties. Autism spectrum disorder is seen in 50-70% of the
individuals with fragile X syndrome. They also have a characteristic face such as a long face, prominent
forehead, large ears and prominent jaw. Certain individuals have heart problems. The severity of the
condition can vary among family members.

Women affected with fragile X syndrome usually experience symptoms at a lower frequency and milder
involvement. Fragile X syndrome can be diagnosed by various molecular tests. There is no cure for fragile x
syndrome however it can be managed by a multidisciplinary team keeping all the symptoms in check. Early
intervention and appropriate educational support can significantly improve the quality of life for individuals
with Fragile X syndrome. Behavioral therapies, speech and language therapy, occupational therapy, and
medications may also be beneficial in managing certain symptoms.

Every year July 22nd is celebrated as Fragile X awareness day. This day honors the individuals and families
affected with Fragile X syndrome, spreads awareness among community and raises support for research.
We should come together and help people struggling with this condition. We should educate people about
this condition through various platforms like social media, newspaper, media outlet etc. Fragile X syndrome
can be misdiagnosed due to lack of awareness among physicians thus information should be spread so that
it reaches more and more people. Increased awareness of Fragile X syndrome can lead to better
understanding, early diagnosis, improved treatment options, and enhanced support for affected individuals
and their families.

Individuals with this condition require special attention and special schooling. Each individual with Fragile X
syndrome is unique, and understanding and acceptance are essential to creating a supportive and inclusive
environment for those living with this condition.

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AUGUST 2023

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