Today, I spent time with the family of Mr. Ameet and Mrs. Vijaylakshmi, whose twins have been in the ICU for three months since birth. Their newborn twins have been diagnosed with CCHS (Congenital Central Hypoventilation Syndrome), a rare genetic disorder affecting breathing. They require lifelong ventilation support and an extended stay in the ICU till they stabilize.

We discussed for hours the various challenges involved in maintaining two babies at home in the future. It takes real strength and patience to care for them, creating an environment akin to ICU conditions at home. Financial needs are substantial, requiring monthly support. Challenges include securing trained nurses, obtaining medical consumables, and handling emergencies and hospitalizations – a truly tough time. Despite this, the parents are positive and eager to save and care for their loved ones.

My wife and I shared our 24 years of experience in managing our daughter Nidhi, offering insights into do’s and don’ts. Managing one child with high medical dependency has been a lifetime commitment; one can only imagine the challenges of supporting small kids in a similar situation. It’s a situation one cannot even imagine; It makes you ponder on the complexities of life.

Unfortunately, there are no government schemes to support such critical needs. There is a pressing need for higher advocacy and suitable government policies to care for children with such conditions in India. It’s disheartening to witness policymakers prioritizing their political existence, engaging in disputes without showing concern for citizens.

The family is currently raising funds for immediate hospitalization and the lifelong management of their children. My heartfelt admiration goes to all mothers who care for babies with special needs and high medical requirements. Their resilience and strength deserve immense respect.

The post Time with a family whoose twins dignosed with CCHS – Congenital central hypoventilation syndrome (CCHS) first appeared on Prasanna Shirol, Rare Disease Advocate.

 Who after me? This is a regular question in the minds of Joint Families, Businessman, Industrialist, Political parties, CEO’s, Various persons in different level of the organization, Rich families, farmers etc. This is a question that, haunts every person irrespective of type and size of the activity. This is a question to find out who will continue or eligible to manage the activity that I am doing in my absence. This absence can be short time as hours, days, months, years or If I am not there permanently.

This is also a question to answer delegation of work, Continuity of the work, satisfaction that the other person likely continues the way you expected and the beneficiary do not feel your absence. This is more an issue of succession plan of your existing activity.

This succession plan decides the future course of that activity. In business most of the times decision can be made on set of parameters which are measurables and based on the experience. Many times, the new person performs better than the previous person due to the new thinking, new ideas, better education, use of new technology, change in the market condition etc. While this is a serious and biggest questions, but according to me this is still a easier decision than the one I am going to talk about here.

If a health of even one family member is affected even for normal issues, It affects the entire family? Hope all of you agree with this statement? Now Have you ever imagined if this situation is life long? Scary right?

Can you imagine a replacing a mother? Difficult right?

YES, there is no substitute to mother. Except, the love and compassion most of the other works can be replaced. Many times, this can be overcome by presence of sister, brother, wife or children or we tend to live without mother as there is no alternative way. Specially when we are not physically dependent on mother. Life goes on.

Though life continues, the question lingers: Who after me? This isn’t just a challenge; it’s the daily reality for families grappling with rare diseases.

The issue of how will the Rare Diseases Patient live once their Parents, Guardian or Care Taker is no more capable of taking care of them is the scariest thought, one can have, leading to sleepless nights. Can you imagine if they disappear suddenly?

Believe me there is no answer to this? I have lived with this question for the last 20 years and heard from literally every parent I have met in my last 15 years of journey.

Most of you know that, rare diseases have several issues:

• They are rare in occurrence, haven’t been studied much. Hence less expertise in managing both by medical fraternity and by families.
• Rare disease can be visible by birth or childhood or during old age. This makes difficult for the family to cope up and plan
• Generally, affect multiple organs, the physical capacity, mental abilities and behavioral and sensory qualities of the patients. Or all of them. There is no single formula to manage. This demands regular change in what we do.
• They are serious chronic and generally degenerative and progressive these shakes both patients and families. We need to keep moving in dark.
• Many live with the fact that, I may lose vision, walking ability, talking ability, I will become bed ridden one day or I am going to die any time? This creates a lifelong psychological stress.

While the cost of treatment for such condition is exorbitant and cannot be managed by any family and need to find solution for these 5% of the conditions.

The rest 95% of the rare disease in absence of curative therapies, need to be managed throughout life long supportive treatment, therapies and home care.

Need finances for managing supportive treatment and procedures like scoliosis, immune separation therapy, correction surgery, regular special diet management, Physiotherapy, speech therapy, occupational therapy the list can go on ….. The cost may vary form few thousands per month to a few lakhs per month

Then there is a monthly expenditure of supportive cost towards medicines, Consumables, Nurse, Attender, medical devices etc.

More importantly its is a mother who takes care of these special lives. When Rare Disease Patients are kids, it is the parents who take care of them. It is easy initially.  When they grow up, it becomes very difficult to manage them. This is because, physically parents cannot lift      the adult patients due to weight and other issues. Medically, Adult Rare Disease Patients condition is too complex compared to kids. Hence, they need to live with 24*7 Care takers and a facility like hospital / of ICU at home. Today it is being managed by Out-of-pocket expenditure (OPE) of the parents and is not so easy manage for years? Many give up, many sell all there properties, many borrow funds and at high interest rates, many go into depression and some even commit suicide.

This isn’t just about rare diseases; it’s a broader concern encompassing differently-abled individuals and an aging population. The pressing question arises: Who will care for these individuals until the end? It’s a query that lingers, demanding solutions and suggestions. There is a need to address this issue those parents who have the already emotionally drained and socially isolated Rare Diseases Parents.

Who will take care of such persons till END. Do you have any idea? Solution? Suggestion. Please comment below:

Let us continue discussion on this in next blog.  Till than good bye.

Closing with a new year wishes to all of you.

The post Who after me?? The Unspoken Dilemma of Rare Diseases first appeared on Prasanna Shirol, Rare Disease Advocate.

A new beginning for the world and for me                                          Blog no 3

As we mark the start of a new year on the English calendar, I extend heartfelt wishes for a joyous New Year and abundant blessings to all.

Many people take this opportunity for a new resolution and start one. I am not a fan of such resolutions for the new year. I am a man of instinct. If something comes to my mind and if I decide that becomes the resolution at that time. I am very good at practicing it and adhere to it most of the time. I am also reasonably disciplined in life from childhood.  (I leave it to you to decide based on how you rate me). In spite of all the challenges in life in Managing Nidhi I tried my level best to maintain discipline. Probably this is the DNA continued from my father.

I had a resolution in the last week of 2019 when my personal website was started www.prasannashirol.com to write blogs. I did write a blog but never continued. Here is the link: https://prasannashirol.com/category/blog/

It was difficult for me to concentrate on managing, taking care of Nidhi, Arranging and managing her regular requirements, ORDI commitments, Travelling etc.

But this year is different for me and for Sharada,

–        It’s a time to travel with emptiness,

–        Time to travel with memories,

–        Time to learn, talk and understand family members and others differently (Earlier it was only about Nidhi),

–        Time to look back and recall all the challenges and happiness in the last 24 years as a father of a Rare Disease child.

–        Time to renew learnings and use them to support more and more patients,

–        Time to see Nidhi in every Rare Disease Child / patient (In fact when I decided to leave my job and concentrate on this Advocacy Journey, it was chosen to support all Rare Disease children and not just for Nidhi) Nidhi was a reason and Nidhi gave us a purpose in our life. Today whatever I am it is because of NIDHI

–        Time to catch up those little things missed in life

–        Time to attend marriages, functions, Birthday parties and parties

–        Time to travel to meet friends and relatives, holidays, and to unknown places.

In a way, A New Way of Life. Everyone starts a Second innings after 50’s but for us it is the beginning of our 1^st innings.

All these years the majority of the people have been asking me to document my experiences through a book or blog.

Now I have some extra time and may be utilising that time to reflect on all those experiences, about people, about places, doctors, Hospitals, patients etc. I am known for speaking from heart and many times many do not like it.

Hope you enjoy these blogs and encourage me with feedback in days to come.

Once again, wish you Happy New Year filled with possibilities, growth, and the promise of sharing and learning together. Happy New Year 24!

The post A new beginning for the world and for me first appeared on Prasanna Shirol, Rare Disease Advocate.

Life is all about changes and change is part of life. While only change is constant, one cannot imagine the effects of change immediately and may not see. Only the end result of any activity or event decides whether, it was a good  or bad CHANGE. Change is also perceptional and perception depends upon ones general knowledge and domain knowledge, It also depends  on  once  involvement in the activity and passion in the field, it also depends on analytical capacity and factors considered  for analytics  from all side. Grass is not always green on the other side and one has to see closely to come to conclusion on anything in Life.

We (Rare Disease Patients Support Group)  being in the field of Rare Disease and we are responsible for expecting  and delivering  HOPE for self and  for society. Recently there are many good changes in the field of Rare Disease in India and globally. Let me talk about India.

If you look at recent changes in the Indian scenario from all the stakeholders, I personally see lot of HOPE and optimism on our combined work and I am sure you also appreciate these changes.  Let me attempt to  list few of them to recap

Central Govt. –  Recognizing Rare disease by Govt. in many departments and drafting Rare Disease policy, Schemes like UMMID, Inclusion of Rare Disease in RAN scheme, Questions and responses to our letter from MOH and other department, FSSAI guidelines on Diet  etc

DCGA/CDSCO – Orphan Drug Policy, Clinical Trial Guidelines, Rare Disease definition etc

 ICMR-  Patient Registry initiative, Gene therapy Guidelines, Bio ethics guideline, DNAR – Do not attempt Resuscitation  discussion etc

IRDA – Beginning of  Some thought process on genetic diseases and basic guidelines in Insurance sector,

Loksabha -Increased Questions in Loksabha by MPS and Govt responses,

ESI ( employee State Insurance)  – Relief to some patients based on the court cases filed by patients.

State Govts – 8 State Govt  forming State Technical Committee,  Karnataka Govt confirmation of 40% on its share towards the treatment for Rare diseases officially.

Judiciary – Favorable judgments by many High courts in India  favorable judgment upholds the Human Rights and Right to Health. Treatment in Karnataka for some children affected with Rare Diseases as a result.

Medical Fraternity– I see a lot of changes in some doctors, hospitals and cities towards Rare diseases and as a result increased diagnosis , care, Increased discussion in CME and conference.

Genetic Testing Companies:  Maturity among Genetic testing companies on reliability of results and confidence from medical fraternity on these tests.

PAG Advocacy- Many individual disease support group have increased their level of activity or intend to do some work.

PAG interest in finding a cure: We see many patients groups now have started raising funds and investing / supporting  in R&D to find a cure for their children or groups condition.

Public Sector : Some public sector extending treatment support to their employees and families

The list is endless, All these are the result of all of our combined efforts. Yes I agree we are still not able to save all our children diagnosed and suffering from Rare Diseases. Rare Disease being a global challenges and exorbitant cost of Diagnosis, treatment and supportive care. It may take some time. We need to have HOPE

I feel now in India the timing is right. We need to work towards common goal  of advocating for Rare Disease policy for India collectively. Individual disease specific support group need to continue towards supporting their members. Only this can be a long-term , sustainable approach to save  children’s suffering from Rare and Genetic diseases. Please note there is no shortcut.

The current speed and momentum gathered is a definitely a path to HOPE in India.

All that needed is every individual, Patients, Families, Patient Support Group  need to work towards common Goal and objective in the best interest of Indian Rare Disease community.

Hope this New Year brings another chance of “GETTING IT RIGHT”, another chance  of HOPE.

I wish all those working and supporting selflessly towards this RARE DISEASE CAUSE, All those mother’s and fathers’s suffering in silence, All those RARE WARRIORS , All those in Companies and  employees, Policy makers, Researchers, Doctors, Nurses, and billions of people directly or indirectly working for the benefit of Rare Disease community

 Happy, Healthy, Hopeful and Prosperous  New Year 2020.

Prasanna Shirol

Father of a daughter affected with Rare Disease called Pompe  *Ashoka Fellow  *Rare Disease Advocate *Social Entrepreneur  *Rare Champion of Hope Awardee 2019 from Global Gene  *Co founder and Director – ORDI -Organization for Rare Diseases India  * President – Pompe Foundation  *Adviser – Inclusive In India *Co founder, Former Founding President – LSDSS (Lysosomal Storage Disorders  Support Society).

The post Right to HOPE first appeared on Prasanna Shirol, Rare Disease Advocate.

Dear Well wisher,

All  of us have many  thoughts, ideas, views,  on the same subject and we often fail to express and sometime regret later. Many times louder  voice is more heard than the softer or the correct one, Many times we may not get the opportunity to express our  views on a subject which is really a good one to the society / community, Many times people may not know the reality or the truth, many times many people may came to conclusion on wrong facts, beliefs, rumor, Some time to get feedback  so on ……..

I also felt that I must express myself on what , Why , when, who, how on many of the things, views,  issues, subject, People, place, etc  I  face in day today dealing with rare Disease community, Govt, media, Patients, Families, Personal experience in dealing with rare Disease Child etc.

Writing blog is one of my long pending things on my plate,  although many well-wisher has been pushing  me to write or express. I am not a good writer nor ever tried. I feel now is the right time. As we step into the new year 2020. This is the time to start something new. I have decided to write blogs on all that I think, plan and good things needed to the society.

I hope you like it and look forward to more interaction and honest feedback .

I wish you all a Happy New Year 2020 and let is make this  world better.

Look forward to your support as always.

Prasanna Kumar Shirol

Father of a daughter affected with Rare Disease called Pompe *Ashoka Fellow  *Rare Disease Advocate *Social Entrepreneur *Rare Champion of Hope Awardee 2019 from Global Gene *Co founder and Director – ORDI -Organization for Rare Diseases India * President – Pompe Foundation * Adviser – Inclusive In India *Co founder, Former Founding President – LSDSS (Lysosomal Storage Disorders  Support Society) *

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