W.P.(C) No. 40083 of 2022 (Suo Motu)

# **`IN THE HIGH COURT OF KERALA AT ERNAKULAM`** # **`PRESENT`** ## **`THE HONOURABLE THE CHIEF JUSTICE MR.S.MANIKUMAR`** ## **`&`** ``` THE HONOURABLE MR.JUSTICE MURALI PURUSHOTHAMAN WEDNESDAY, THE 1[ST] DAY OF MARCH 2023 / 10TH PHALGUNA, 1944 ``` ``` WP(C) NO. 40083 OF 2022 ``` ## **`PETITIONER:`** ``` SUO MOTU XXX BY ADV SUO MOTU ``` ## **`RESPONDENTS:`** ``` 1STATE OF KERALA REPRESENTED BY THE PRINCIPAL SECRETARY, HEALTH & FAMILY WELFARE, GOVERNMENT SECRETARIAT, THIRUVANANTHAPURAM-695 001. 2THE SECRETARY, DEPARTMENT OF BIOTECHNOLOGY, 6TH-8TH FLOOR, BLOCK 2 CGO COMPLEX, LODHI ROAD, NEW DELHI-110 003. 3THE SECRETARY, DEPARTMENT OF HEALTH & FAMILY WELFARE, NIRMAN BHAWAN, NEW DELHI-110 011. BY ADVS. SHRI.V.TEKCHAND, SENIOR G.P. SRI. MANU S., DSG OF INDIA SRI. S. BIJU, CGC ``` ``` THIS WRIT PETITION (CIVIL) HAVING COME UP FOR ADMISSION ON 01.03.2023, THE COURT ON THE SAME DAY DELIVERED THE FOLLOWING: ``` **W.P.(C)No.40083 of 2022** **2** ## **JUDGMENT** ## Dated this the 1[st ] day of March, 2023 ## **S.Manikumar, C.J.** Instant _suo motu_ writ petition is initiated by this court on the following facts:- 1.1. Mr. Jerin Johnson, petitioner in H.R.M.P. No.7183/11/3/ 2021, is ailing from neuro-muscular disorder and states that several neuro-muscular disorders have no treatment in place. 1.2. The petitioner and 500 other patients came together to form an organisation, "Mobility in Dystrophy" (MIND) in 2017 and several petitions were submitted to the Government for rehabilitation and assistance, but, no support was provided to them, either by the Central Government or State Government. 1.3. A petition was filed before the Kerala State Human Rights Commission as H.R.M.P.No.7183/11/3/2021 and the Commission directed the Health Secretary, Government of Kerala, to establish a rehabilitation centre, and to provide treatment, to the individuals suffering from such diseases. 1.4. It is stated that such patients are only paid the same **3** ## **W.P.(C)No.40083 of 2022** pension as that of differently abled persons, even though, the care needed by them is many fold and that many of the neuro-muscular diseases are excluded from the list to avail benefits from Government schemes. 1.5. According to the petitioner, they are neither physically capable nor have the financial means to conduct a case, even though they are in dire need of justice and requested the freedom to travel in public transport, freedom to work, right to live, right to education and right to lead a healthy life for all SMA patients and for those, who are physically challenged, as well. 1.6. The Secretary, Health and Family Welfare Department has submitted a report, regarding the representation from Mr.Jerin Johnson stating that, no drugs are available in the Government hospitals for treatment of Muscular Dystrophy (a neuro-muscular disorder) and that the genetic labs in Government Medical Colleges are presently ill equipped to diagnose the disease. 1.7. It is further submitted that the Government is providing free physiotherapy services in the hospitals for such patients and it would be ideal to bring all the available treatments/facilities, for **W.P.(C)No.40083 of 2022** **4** neuro muscular disorders, under a Comprehensive Facility Centre for Neuro Muscular Disorder. 1.8. On compliance of the direction of this Court in WP(C) No.7984 of 2021, the Government have constituted a committee for clinical examination of children affected by rare diseases and made arrangements for detection of SMA (Spinal Muscular Atrophy) in Child Development Centre, Thiruvananthapuram, in association with Sree Avittom Thirunal Hospital. 1.9. They have started administering medicines, available in India, to the selected patients and facilities for physiotherapy are available in all the Districts. 1.10. The Government is also examining the possibility of using drugs that are under research, in foreign countries, and the Government of Kerala, is in the process of examining, as to how to address neuro-muscular disorders appropriately. 1.11. Petitioner has requested to find out the genetic nature of the disease and to give genetic counselling, for those affected, for prevention of this disease, as SMA is a genetic disease, and for this, to make use of the Genetic Clinic in Thiruvananthapuram and **5** ## **W.P.(C)No.40083 of 2022** Kozhikode Medical Colleges. Petitioner has also stated that the Government of Kerala, is yet to accord permission for Gene Therapy, Gene Editing, and Clinical Research, by the pharmaceutical companies, and that, these decisions need to be taken by the Government. 1.12. Mr. Arif of Malappuram District has filed W.P.(C) No.7984 of 2021, requesting permission to import a drug ‘Zolgensma' seeking for a direction to import life saving drugs, for the treatment of his son for the Spinal Muscular Atrophy Type 1 and in the interim, the petitioner's son expired. 1.13. However, the case is pending. The Central Government have come out with a National Policy for Rare Diseases, 2021 and notified hospitals, with facilities, for treatment of Rare Diseases, as Centres of Excellence, and has made provision for extending financial support. This court directed the Union of India to examine the possibility of establishing Centres of Excellence, in each state. The State Government were also required to file an affidavit regarding the present stage of development of concept of Crowd Funding for treatment of rare diseases, and also to identify children suffering from SMA, in the State, for whose ailments, **W.P.(C)No.40083 of 2022** **6** effective drugs are available, prioritise them, and to make necessary arrangement, for the treatments of such children. As per the order passed on 10/10/2022, the State Government were directed to take necessary steps, to comply with the requirements pointed out by the panel of experts, appointed by the Central Government, in order to nominate SAT Hospital, Thiruvananthapuram, and Institute of Child and Maternal Health, Government Medical College, Kozhikode, as Centre of Excellence (COE), for Rare Diseases, in terms of the National Policy of Rare Diseases, 2021. 1.14. A petition was received from Mr. Saji Thomas @ Gigi Lanithottam, Kottayam, praying to provide financial aid to those, who are suffering from terminal/rare diseases, in dire financial straits, and forced to request financial aid through social media, similar to the relief awarded to the Two Children ailing from Congenital Adrenal Hyperplasia, addressed by the Court in WP(C) No.30529 of 2022. He has also requested that the same relief may be provided to all those, who are facing financial difficulties, for paying their medical expenses. 1.15. It is further stated that though the Government has **W.P.(C)No.40083 of 2022** **7** initiated several insurance schemes for ensuring affordable treatment to public, these schemes do not benefit all, due to redtapism and lack of co-ordination between the shareholders. The petitioner cites the example of 'Karunya Arogya Scheme', in which, no new entrants are allowed since 2018-2019 and this has put thousands of beneficiaries out of the safety net and are forced to examine other avenues for funding their treatment. 1.16. Petitioner has further stated that the Government has envisaged a 'thuna' project to find the poorest of the poor in each of the 14 districts in the State and feels that the benefits of this project should be expanded to include patients who are in dire need of financial assistance to fund their treatment. In the absence of the Government's assistance, these people are forced to approach social media for funding the treatment of their loved ones and he requests that such crowd funding initiatives should be discouraged by the High Court and that the general public should be made aware of all avenues available for treatment for those in financial difficulty. 1.17. Petitioner is of the view that the intervention of this court in the matter of providing financial assistance to two **W.P.(C)No.40083 of 2022** **8** children ailing from Congenital Adrenal Hyperplasia is a reassurance to the public and the same relief should be extended to patients with similar problems and requests that the Government insurance schemes should be amended accordingly and that all insurance schemes should emulate the example of Karunya Benevolent Fund. He has requested that the Government should allow the insurance beneficiaries, to pay the excess premium to increase the coverage for treatments and also has requested affordable health care for all people and the State Government to envision schemes to ensure medical treatment for all. 2. Heard learned counsel for the parties and perused the material available on record. 3. A statement dated 28.02.2023, has been filed on behalf of the Secretary, Department of Biotechnology, New Delhi, and the Secretary, Department of Health and Family Welfare, New Delhi, respondents 2 and 3, wherein it is averred as under: “2. It is submitted that the Writ Petition is registered Suo Motu to monitor and to ensure the steps taken to protect the interest of the people affected with Rare diseases and for other consequential reliefs. **W.P.(C)No.40083 of 2022** **9** 3. It is humbly submitted that the field of rare diseases is complex and heterogeneous. The landscape of rare diseases is constantly changing, as there are new rare diseases and conditions being identified and reported regularly in medical literature. Apart from a few rare diseases, where significant progress has been made, the field is still at a nascent stage. For a long time, doctors, researchers and policy makers were unaware of rare diseases. Until very recently there was no real research concerning issues related to the field. This poses formidable challenges in development of a comprehensive policy on rare diseases. Nevertheless, this respondent is committed to take steps, in the short as well as long term, with the objective of tackling rare diseases in a holistic and comprehensive manner. 4. In the above circumstances, Ministry of Health and Family Welfare, Govt. of India, with a view to provide necessary treatment, help and support to people affected with rare diseases, formulated the National policy for treatment of Rare Diseases (NPTRD) in July, 2017. 5. However, the implementation of the above policy faced several challenges. The Public Health and Hospitals being a State Subject, faced certain Challenges like cost effectiveness of interventions vis-a –vis other health priorities. Thus an expert committee was constituted by the Ministry in the year, 2018 to review the NPTRD, 2017. Based on the Expert Committee report, the draft National Policy for Rare Diseases was formed and the same was placed in public domain, inviting comments/views from all the stakeholders, including the States/UTs, organizations and the general public. 6. Thereafter, Ministry of Health and Family Welfare has notified the National Policy for Rare Diseases, 2021 and placed the same in public domain. The National Policy for Rare Diseases, 2021 also inter alia aims at lowering the incidence and prevalence of rare diseases based on an integrated and comprehensive preventive strategy encompassing awareness generation, premarital, postmarital, pre-conception and postconception screening and counseling programs to prevent births of children with rare diseases. 7. With regard to providing financial assistance to the patients **W.P.(C)No.40083 of 2022** **10** suffering from rare diseases, under the Scheme, it is submitted that for the diseases/disorders amenable to one time curative treatment (listed under Group -1), financial support upto Rs. 20 lakh under umbrella scheme of the RAN shall be provided by the Central Government. For the diseases requiring long term / lifelong treatment, having relatively lower cost of treatment (listed under Group 2), the financial support will be provided under the schemes of the State Governments. The diseases for which definite treatment is available, but involves very high cost and lifelong therapy (listed under Group 3), the policy provides for creation of a Digital Platform for inviting voluntary donations from individuals and corporate donors to contribute to the treatment cost of patients of rare diseases. Donors will have a choice to make donations to different Centres of Excellence (CoEs) and for the patients being treated by these CoEs. The funds will be utilized in a decentralised manner i.e. every Centre of Excellence (CoE) will have its own Rare Disease Fund, which will be utilized with the approval of the in-charge concerned. 8. It is further, submitted that the ministry has now made functional the Digital Portal for Crowd funding and Voluntary donations for Patients of Rare Diseases. Moreover, as per the National Policy for Rare Diseases, 2021, Rare Diseases have been identified and categorized under three Groups. It is submitted that Group 1 type of rare diseases are the disorders amenable to onetime curative treatment. They are further categorized into two sub groups viz. disorders amenable to treatment with Hematopoietic Stem Cell Transformation (HSTC) and disorders amenable to organ Transplantation. 9. Group 2 type of rare disease are those diseases requiring long term/lifelong treatment having relative lower cost of treatment and benefit has been documented in literature and annual or more frequent surveillance is required. They are also categorized into two sub groups viz. disorders managed with special dietary formulae or food for special medical purposes (FSMP) and disorders that are amenable to other forms of therapy (hormone/specific drugs). 10. Group 3 category of rare diseases are those, for which definitive treatment is available but challenges are to make **W.P.(C)No.40083 of 2022** **11** optimal patient selection for benefit, very high cost and lifelong therapy. They are further categorized into two sub groups viz. where based on literature, sufficient evidence for good long term outcomes exists and those diseases for which the cost of treatment is very high. 11. It is also submitted that as per paragraph 6.3 of the National Policy for rare Diseases, 2021, the list of diseases under Group 1, Group 2 and Group 3 are not exhaustive and will be reviewed periodically based on updated scientific data by the Technical Committee. Very recently, the Ministry of Health and Family Welfare vide O.M. dated 18.01.2023 has included 06(Six) rare diseases namely Laron’s Syndrome (Group 1), Wilson’s Disease, Congenital Adrenal Hyperplasia (CAH), Neonatal Onset Multisystem Inflammatory Disease (NOMID) (Group 2), Hypophosphatic Rickets and Atypical Hemolytic Uremic Syndrome (AHUS) (Group 3) in the National Policy for Rare Diseases, 2021 based on the recommendation of the Central Technical Committee for Rare Diseases. In addition to the above, on 15.11.2022, this Hon’ble Court while disposing of the Suo Moto Writ Petition No. 30529/2022 inter alia had directed Secretary to the Government, Ministry of Health and Family Welfare, New Delhi to issue appropriate orders for inclusion of Congenital Adrenal Hyperplasia (CAH) in the National Policy for Rare Diseases, 2021 within two months from the date of receipt of a copy of the Judgment dated 15.11.2022. By including the Congenital Adrenal Hyperplasia (CAH) under Group 2 in the National Policy for Rare Diseases, 2021, the directions passed by the Hon’ble Kerala High Court has been complied with. 12. It is submitted that in the light of competing health priorities, the focus would be on prevention of rare diseases as a policy for all the three groups of rare diseases. It is submitted that Public Health being a State Subject, the Central Government encourages and supports the States in their endeavor towards screening and prevention of rare diseases through Centres of Excellence (CoEs) under Rare Disease Policy and Nidan Kendras under the Department of Biotechnology. Under Para 9 of the Policy, the Central Government has selected 08 Centres of Excellence to begin with, which are the premier Government tertiary hospitals with facilities for diagnosis, prevention and **W.P.(C)No.40083 of 2022** **12** treatment of rare diseases. These 08 premier institutes are as follows: - i. All India Institute of Medical Sciences, New Delhi - ii. Maulana Azad Medical College, New Delhi. - iii. Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow. - iv. Post Graduate Institute of Medical Education and Research, Chandigarh. - v. Centre for DNA Fingerprinting & Diagnostics with Nizam‘s Institute of Medical Sciences, Hyderabad - vi. King Edward Medical Hospital, Mumbai. - vii. Institute of Post-Graduate Medical Education and Research, Kolkata. - viii. Center for Human Genetics (CHG) with Indira Gandhi Hospital, Bengaluru. 13. The policy envisages addition of more Centers of Excellence for regional outreach if they are found to be suitable in terms of infrastructure and human resources based on recommendations of technical committee. Very recently, the following Medical Institutes/Hospitals have been included as Centres of Excellence in the National Policy for Rare Diseases, 2021: - i. Institute of Child Health & Hospital for Children (ICH&CH), Chennai; - ii. AIIMS, Jodhpur; and - iii. Sree Avittam Thirunal Hospital (SAT), Government Medical College, Thiruvananthapuram 14. Thus 11 Centres of Exellence (CoEs) have been recognized by the ministry, spread across the country. It is to be noted that the National Policy for Rare Diseases, 2021 has also outlined the responsibilities and activities of the CoEs as follows:- - Education & Training at all levels - Screening – Antenatal, neonatal (specified disorders), High risk screening (Both antenatal & in newborns and children) - Diagnostics- Cytogenetic, molecular, Metabolic **W.P.(C)No.40083 of 2022** **13** - Prevention by prenatal screening &diagnosis - Research in the area of low cost diagnostics & therapeutics. - Treatment of rare diseases. 15. That it is also respectfully submitted that the patients suffering from the rare diseases including neuro-muscular disorders can approach the nearest Centre of Excellence (CoE) from where they are getting treatment and they will assess the patients’ case and determine further course of action regarding treatment etc. and will, accordingly, take requisite decision in the particular case. It is further submitted that the CoEs have Rare Disease Committee in their centres for taking all decisions with regard to the treatment of patients suffering from rare diseases. The CoEs depending upon the treatment need and financial status of the patient, upload the details of the patient of rare disease on the portal for Crowd funding and Voluntary donations for the Patient suffering from Rare Diseases in need of treatment and in need of financial support for the same. Each Centre of Excellence (CoE) also operates ‘Rare Diseases Fund Account’ for receipt of funds through crowd funding and voluntary donations on digital portal as mentioned above. On the basis of the diagnosis and treatment procedures as suggested/adopted by the Centre of Excellence (CoE), a further decision with respect to the patient’s case will be taken by the respective CoE. 16. It is respectfully submitted that the National Policy for Rare Diseases, 2021 was amended vide OM dated 19.05.2022. As per the amendment, financial support upto Rs. 50 lakhs shall be provided to the patients suffering from any category of the Rare Diseases. The financial support will be provided to the patients for the treatment in any of the Centre of Excellence (CoE) mentioned in NPRD-2021, outside the Umbrella Scheme of Rashtriya Arogya Nidhi. 17. It is respectfully submitted that the petitioner, subject to fulfilling other conditions of the National Policy for Rare Diseases, 2021, may consider to approach the nearest CoE or at the CoE where the petitioner is getting the treatment to avail the benefits as per the latest OM. Moreover, the Department of Empowerment of Persons with Disabilities (Divyangjan) vide OM **W.P.(C)No.40083 of 2022** **14** No. 30-27/2021- DD-III dated 22.06.2021 had provided the detailed information about the facilities/assistance and rehabilitation provided to persons with Muscular Dystrophy. 18. It is also submitted that Department of Biotechnology (Respondent No. 2) vide OM No. CCM-11012(11)/1/2023- MEDDBT dated 06.01.2023 has provided their comments in the matter. That it is also respectfully submitted that the Ministry of Health and Family Welfare is committed to the implementation of Rare Diseases Policy as notified on 30.03.2021. 19. In addition to the above, the govt. faces several challenges in implementing the policy. The landscape of rare diseases is constantly changing, as there are new rare diseases and conditions being identified and reported regularly in medical literature. Apart from a few rare diseases, where significant progress has been made, the field is still at a nascent stage. For a long time, doctors, researchers and policy makers were unaware of rare diseases and until very recently, there was no real research or public health policy concerning issues related to the field. As the number of persons suffering from individual rare diseases is small, they do not constitute a significant market for drug manufacturers to develop and bring to market drugs for them. For this reason, rare diseases are also called ’orphan diseases’ and drugs to treat them are called “orphan drugs”. Where they do make drugs to treat rare diseases, the prices are extremely high apparently to recoup the cost of research and development. At present, very few pharmaceutical companies are manufacturing drugs for rare diseases globally. 20. It is further submitted that due to high cost of most therapies, the Government has not been able to provide these for free. The financial capacity to support exorbitant cost of treatment is an important consideration in public health policy development with reference to treatment for rare diseases. In resource-constrained settings, it is pertinent to balance competing interests of public health for achieving optimal outcome for the resources allocated. As resources are limited and have multiple uses, the policy makers have to make choice of prioritizing certain set of interventions over others, the appropriate choice is then to support those interventions that **W.P.(C)No.40083 of 2022** **15** would provide more number of healthy life years for given sum of money while simultaneously looking at the equity i.e. interventions that benefit poor who cannot afford healthcare, are prioritized. Thus, interventions that address health problems of a much larger number of persons by allocating a relatively smaller amount are prioritized over others such as funding treatment of rare diseases where much greater resources will be required for addressing health problems of a far smaller number of persons.” 4. State of Kerala, represented by the Principal Secretary, Health and Family Welfare Department, respondent No.1, has filed a counter affidavit dated 01.02.2023. Relevant paragraphs of the same are extracted hereunder: 4. It is submitted that, as per the current available literature, the most recognized strategy is to treat children with SMA, early, to prevent further damage and permanent disability. Keeping this in mind, children under the age of 18 years were called for evaluation between 05/04/22 to 06/12/2022 at SAT Hospital, Thiruvananthapuram. Out of the total known SMA affected persons, 188 were called and 160 attended for clinical assessment (SAT Thiruvananthapuram 128, MCH Kottayam 14 and MCH Kozhikkode 18). Report of the clinical assessment of 25 patients who came for the first three clinics has been submitted by the State Technical Committee to the State Government. Out of this 25, the technical committee was of the view that 22 SMA Type 1& 2 children are to be given priority for the treatment support with Risdiplam. In the meeting chaired by this respondent it was decided to give the medicine Risdiplam to these selected children. Government formed a committee to negotiate the price with the concerned Pharmaceutical Company and started negotiation. Meanwhile drug was procured through KMSCL and decided to be disbursed through SMA Multidisciplinary Clinic at SAT Thiruvananthapuram and IMCH Kozhikkode. As per the **W.P.(C)No.40083 of 2022** **16** decision in the meeting Pediatric Neurologist and Geneticist were deputed to the camp at Kozhikode Medical College for starting the medication (RISDIPLAM) for 13 children with SMA. The Director of Medical Education issued an order to depute Dr. Mary lype, Professor & HOD, Department of Pediatric Neurology, SAT Hospital and Dr. Sankar V H, Additional Professor & Geneticist, Department of Paediatrics: SAT Hospital to SMA Clinic held at SAT Hospital on 12 July 2022 and Government Medical College, Kozhikode on 15th and 16th July 2022 for starting the medication to children with SMA. Thus the first set of scheduled administration of the drug was completed on 16th July 2022 for a total 15 children with SMA. The next installment of medicine has been distributed to the children who exhausted their stock of medicine at MCH clinic in Kozhikode. Later one child who was sick and got admitted with diagnosis of SMA was also started on with the medicine under the guidance of State Technical Committee from IMCH Kozhikkode. 5. It is submitted that the second list of 9 patients under five years whose clinical evaluation by multidisciplinary team has been completed, was submitted to the technical committee to decide on the treatment support with Risdiplam. The technical committee recommended the drug Risdiplam for 9 more patients under five years of age and the drug was distributed to children on 18th October 2022 at SAT Hospital. The Government has made 133 bottles of this medicine available to these hospitals and disbursed 116 bottles on date and the current stock will last for another two weeks as per estimate. The third list of 14 patients under five years whose clinical evaluation by multidisciplinary team has been completed has been submitted to the technical committee to decide on the treatment support with Risdiplam. The TC is scheduled for this week to examine the cases and decide. 6. It is submitted that regarding procurement of medicine various steps have been taken. As a first step, based on the directions from MD KMSCL (Kerala Medical Services Corporation Ltd) the Chief Operating Officer of Roche India **W.P.(C)No.40083 of 2022** **17** Products Itd. the Original Manufacturer was contacted and an online meeting scheduled to understand their interest to supply the medicine and to get information on the pricing of the products along with the details of patient support program they offer. Later, a High Level Committee engaged by Government completed a negotiation meeting and requested the Managing Director Roche India Products Ltd to submit a proposal based on the meeting decisions. Based on the proposal submitted by the Company, Government has sanctioned execution of a tripartite agreement between KMSCL, NHM and Roche Products India Pvt. Ltd for the patient support program and an additional bipartite agreement RIHI (Roche India Healthcare Institute) and NHM. Now the tripartite agreement has been signed between KMSCL, NHM and Roche Products India Pvt Ltd and the bipartite agreement between NHM and RIHI. 7. The quantity required for 24 children without access and Identified by the TC among the under five children were calculated based on their weight and age and intimated to MD KMSCL for issuing purchase order. Based on the directions from the Hon. High Court of Kerala, the State published an advertisement in two leading Malayalam dailies, Mathrubhoomi and Manorama and in two English dailies, The New Indian Express and Economic Times on 23.03.2022. As per the decision taken in the meeting 28.04.22 and directions from the Principal Secretary Health the content of the advertisements to be published were modified with including the number of applications received so far and per year approximate cost of treatment per child along with the appeal to public to extend support by donations. Second advertisement published in The Hindu. The Times of India, Malayala Manorama and Mathrubhoomi at I & PRD rates using NHM funds under Child Health allotted for IEC/BCC activities. Recently the SAT Hospital in Government Medical College Hospital, Thiruvananthapuram campus here has been included on the Union Health Ministry's list of Centres of Excellence for Rare Diseases. This was a huge achievement for the State as SAT Hospital had found a place among 10 important hospitals in the country. This would help bring about revolutionary changes **W.P.(C)No.40083 of 2022** **18** in detection of rare diseases, their treatment and research. All efforts are taken to continue the treatment of those children initiated with drug treatment and they are informed about the services available for physiotherapy set up in all 14 districts under government hospitals. 8. It is submitted that in the writ petition there is a mention related to Congenital Adrenal Hyperplacia (CAL) and the case was submitted as a representation to Government. One Manu Joseph father of Santino Joseph (1 year 9 months) & Santrin Joseph (17 year 2 months) with Congenital Adrenal Hyperplasia (CAH) & Autism requested financial assistance to Honorable Health Minister for the treatment of their children on 25.07.2021. Thereupon this respondent was asked to look into the case. This respondent forwarded the request to State Mission Director, National Health Mission as per letter dated 20.12.2021. The parents of the child were contacted over phone from the Child Health Division, National Health Mission on 28.12.2021 to know the current health status and needs of the children. 9. CAH is an inborn error of metabolism and is included under the metabolic screening panel by the state since 2013 and part of the comprehensive newborn screening program under RBSK. There are specific treatment guidelines available for children identified to have CAH and are being followed through public health institutions across the State. Those tested positive, need specific treatment including drugs, diet and lifestyle modifications with regular follow up for specific investigations. In this case, as more than one child from the same family are affected by the condition. It mandates a genetic testing and counseling for the best outcome. 10. Hence, the case was referred to Dr. Shankar V.H, Additional Professor & Geneticist, Department of Pediatrics, SAT Hospital for a detailed medical evaluation and assessment of treatment needs. Dr Shankar V.H. evaluated both the children and submitted a detailed medical report, which recommended few genetic tests and also advised to continue medications which can be availed free of cost either available under Essential Drug List (EDL) or if not **W.P.(C)No.40083 of 2022** **19** available can be availed using the Arogyakiranam scheme from nearby Government Hospital. It may also be noted that the child is having cognitive decline and Autism spectrum disorder which requires another set of therapies. The counselling and the therapy recommended can be met from District Early Intervention Centers (DEIC), Kottayam or Regional Early Intervention Center (REIC) in MCH Kottayam and is already informed to the parents of the children. 11. While so, Ms. Smitha Antony, mother of these children again sent a request to Honorable Health Minister to get financial assistance for the genetic tests recommended by Dr. Shankar with an estimated cost of Rs.35000 for both children. The request was forwarded to the State Mission Director NHM and received in NHM office on 21.05.2022. The matter was examined in detail and after considering the remarks from the State Nodal Officer that these genetic tests has not much to offer with regard to treatment of disease but only useful for genetic confirmation of diagnosis and to understand the genetic pattern of the disease. As per the existing guideline these tests cannot be included under any of the existing schemes. Special administrative sanction was recommended by the State Nodal Officer Child Health in view of the high cost and the same was given to DPM Thiruvananthapuram as per AS dated 30.06 2022, by the State Mission Director NHM to utilize an amount of Rs.35000/- (Rupees Thirty Five Thousand Only) for the list of genetic tests recommended by Dr Shankar V.H. for the children. The samples for the said test was collected by the Genetic Clinic in SAT and send to MEDGENOME on 23.7.2022, confirms the diagnosis Congenital adrenal hyperplasia as they detected pathogenic variants causative of the disease in the samples collected from both the children. But the Repeat PCR done on Santrin Joseph revealed that the child is unlikely to be affected with Fraile X Syndrome and Karyotyping test confirmed the normal male Karyotype. 12. It is pertinent to mention here that the District programme Manager, Thiruvananthapuram, released the AS amount Rs. 35,000/- to MEDGENOME company based on the **20** ## **W.P.(C)No.40083 of 2022** fund request received from Superintendent of SAT Hospital dated 05.09.2022. 13. It is submitted that the subject matter in this suo motu writ petition is also to include Congenital Adrenal Hyperplasia in the group of rare diseases and to grant financial aid and support to the parents. As per Office Memorandum No. W-11037/40/2022/ Grants (RD) (part2) dated 18.01.2023, the Ministry of Health & Family Welfare, Government of India has included Congenial Adrenal hyperplasia(CAH) under Group 1 (b) (ii) disorders, i.e., disorders that are amendable to other forms of therapy (hormone / specific drugs). The allegation raised in the complaint that there is only one Pediatric Endocrinology Clinic in the state which is in SAT Hospital Thiruvananthapuram is a wrong information and the state has Pediatric Endocrinology clinics runs under the Department of Pediatrics in Medical Colleges including in the Medical College Kottayam. 14. As per Office Memorandum P-18012/11/2022 EPI/RD dated 26.12.2022, the Ministry of Health and Family Welfare, Department of Health and Family Welfare, Government of India has included Sree Avittam Thirunal Hospital SAT Government Medical College in the list of Centers of Excellence for Rare Diseases. 15. NPRD 2021 does not speak on the financial assistance to children with rare diseases but only talks about the treatment support and means of identifying cases under three categories namely Category-I, II, and III. There are Autism centers in seven hospitals including five Medical Colleges, SAT Thiruvananthapuram, GMC Alappuzha, GMC Kottayam, GMC Thrissur and GMC Kozhikkode attached to Regional Early Intervention Centres and in GMC Manjeri and IMHANS Kozhikkode where therapies and support required to children with Autism are provided. All the District Early Intervention Centres (DEIC) are also equipped to provide necessary therapies to children with Autism and there are one each DEICs in every district. 5. We have gone through the averments in the counter **21** ## **W.P.(C)No.40083 of 2022** affidavit filed by the Central/State Governments and satisfied with the action taken. Recording the same, writ petition is disposed of. Pending interlocutory applications, if any, shall stand closed. Sd/- **S.Manikumar Chief Justice** Sd/- **Murali Purushothaman Judge** ## **vpv** **W.P.(C)No.40083 of 2022** **22** ## **`APPENDIX OF WP(C) 40083/2022`** ``` PETITIONER EXHIBITS ``` ``` Exhibit P1OFFICE NOTES AND ORDERS OF HONOURABLE MR.JUSTICE K.VINOD CHANDRAN DATED 18.11.2022 IN THE PETITION SUBMITTED BY SRI.JERIN JOHNSON. ``` - `Exhibit P2 OFFICE NOTES AND ORDERS OF HONOURABLE MR.JUSTICE K.VINOD CHANDRAN DATED` - `18.11.2022 IN THE PETITION SUBMITTED BY SRI.SAJI THOMAS ALIAS GIGI LAINTHOTTAM.` - `Exhibit P3 OFFICE NOTES AND ORDERS OF HONOURABLE THE CHIEF JUSTICE DATED 01.12.2022.` - `Exhibit P4 E-MAIL PETITION FROM SRI. JERIN JOHNSON FOR REHABILITATION & MEDICAL ASSISTANCE TO THOSE AILING FROM NEURO-MUSCULAR DISEASES DATED 01.08.2022 AND ITS ENGLISH TRANSLATION` - `Exhibit P5 REPORT OF HEALTH SECRETARY, GOVERNMENT OF KERALA DATED 17.10.2022 REGARDING THE PETITION FROM SRI.JERIN JOHNSON.` - `Exhibit P6 PETITION FROM SRI.SAJI THOMAS ALIAS GIGI LAINTHOTTAM REGARDING PROVIDING FINANCIAL AID TO THOSE SUFFERING FROM TERMINAL/RARE DISEASES, IN DIRE FINANCIAL STRAITS FORCED TO REQUEST FINANCIAL AID THROUGH SOCIAL MEDIA AND ITS ENGLISH TRANSLATION.` ## `RESPONDENT ANNEXURES` - `Annexure R1(a) TRUE COPY OF THE OFFICE MEMORANDUM NO. W-11037/40/2022/-GRANTS(RD)(PART 2) DATED 18-01-2023 OF MINISTRY OF HEALTH AND FAMILY WELFARE, GOVERNMENT OF INDIA.` ``` Annexure R1(b)TRUE COPY OF THE OFFICE MEMORANDUM NO. W-18012/11/2022-EPI/RD DATED 26-12-2022 OF MINISTRY OF HEALTH AND FAMILY WELFARE, GOVERNMENT OF INDIA. ``` **23** ## **W.P.(C)No.40083 of 2022** ``` Annexure R3(a)A TRUE COPY OF THE NATIONAL POLICY FOR RARE DISEASES, 2021. Annexure R3(b)THE COPY OF THE OM DATED 19.05.2022. Annexure R3(c)A COPY OF THE OM DATED 22.06.2021. Annexure R3(d)A COPY OF THE OM DATED 06.01.2023 ISSUED BY THE DEPARTMENT OF BIOTECHNOLOGY. ``` //true copy// P.A. to Judge