You are Rare you are Precious

Rare diseases are the types of diseases with low incidence and mostly genetics, they affect 5% of the world’s population. Up to 80% of rare diseases are genetic in origin. Additionally, nearly 50% of all rare disease patients are children. 

if we have a simple classification 

• Genetics, metabolic 
• Rare infection diseases 

Over 7,000 rare diseases affect more than 30 million people in the United States. Many rare conditions are life-threatening and most do not have treatments. Drug, biological, and device development in rare diseases is challenging for many reasons, including the complex biology and the lack of understanding of the natural history of many rare diseases. The inherently small population of patients with a rare disease can also make conducting clinical trials difficult. Since the Orphan Drug Act was signed into law in 1983, the FDA has approved hundreds of drugs for rare diseases, but most rare diseases do not have FDA-approved treatments.  The FDA works with many people and groups, such as patients, caregivers, and drug and device manufacturers, to support rare disease product development. 

the rare diseases which developed from rare infections like encephalitis viral infections and many zoonotic diseases which transmitted from animals by coincidence, actually this is the basic future challenges for humanity whatever the one infected and the one no infected like monkeypox, rift valley fever and the shifted and drifted new viral influenza, Virulent Ebola  

 the genetic limited diseases are various in severity and their effects on normal  affected human lifestyle  60% of genetic rare diseases have palliative treatment to keep the affected human life normal as much as we can 

and the rest have various effects starting from normal mobility, musculoskeletal functions, brain function, and metabolic functions, with different grades according to the degree of such diseases 

But actually, the Major risk is mainly in the infectious rare diseases as mutation and the abilities of viruses to change their third party vector for transmission which  can be a one-day fulminant Pandemic, 

The solution is to address a new manual to deal with both types of diseases category using many tools, starting from data localization and certain instructions guide the patient and community culture and  the holly way of management 

the solution simply has 5 Arms  for both categories of rare diseases and rare infectious diseases 

first  Arm of solution regarding  orphan rare diseases and genetic diseases 

- classification of rare diseases according to their effect on the normal affected human lifestyle and day-to-day Life 

the classification of 7000 diseases will be under 6 grades 

 Grad 1   

  the disease does not affect normal health over 12 months in case using developed medications 

 Grade 2

 the disease does not affect normal health  and lifestyle over 12 months in case using developed medications but in case of an occurrence of other health issues like diabetes, hypertension, or infections  it leads to having symptoms affect the normal lifestyle  

 Grade 3

the disease  has discoverable medication but actually affects the lifestyle and normal day-to-day acts with musculoskeletal disabilities or mental and metabolic by 25% ratio from normal healthy human ( scaling is available ) 

first regarding orphan rare diseases and genetic diseases 

Grade 4 

the disease  has discoverable medication but actually affects the lifestyle and normal day-to-day acts with musculoskeletal disabilities or mental and metabolic by 50% ratio from normal healthy human ( scaling is available ) 

Grade 5 

the disease has discoverable medication but actually affects  the lifestyle and normal day-to-day acts with musculoskeletal disabilities or mental and metabolic by 75% ratio from normal healthy human ( scaling is available )

Grade 6 

the diseases do not have discoverable medication and affect the lifestyle and normal day-to-day acts  by 50%

Grade 7 

the diseases  don't have discoverable medication and affect normal lifestyle by 75% ( scaling available )

2nd Arm  regarding orphan rare diseases and genetic diseases 

A platform for scaling of symptoms, 

1- this platform in which the patient enters his physical parameters, diseases, and disability type then the platform will give him his grade 

2- the patient once he detects his grade can find a list of all medications and drugs suitable for his case and can locate the manufacturer and availabilities in the Mega drug stores 

3- At the same time he will have a charity people list, he can chat with them and send documents about his case, if they approved he place an order for the drugs and by default paid by a charity member  and can arrange through the platform automatic monthly supply from stores 

4- the platform will have a new blog about the updates and new specific treatment for his case only 

5- the platform will be linked by new software have the links of all doctor's specialty management cases like his case plus hospitals 

6- the platform will have a donation center and links to third-phase clinical trials to try new medications for his case

7- the platform has social chat between he people with same diseases and has remission stories 

3th Arm  regarding orphan rare diseases and genetic diseases 

My book you are rare you are precious  available in Amazon  https://www.amazon.com/dp/B0B5... 

4th  Arm  regarding orphan rare diseases and genetic diseases 

With a nutritional platform  for metabolic and mitochondrial diseases combined with a new portable device for immediate measuring of essential metabolic elements in the blood we have more than 30 elements that play role in metabolic and mitochondrial diseases 

Once the device measure such elements, it goes automatically to the doctors who automatically send adjustment of treatment at once 

5th Arm  regarding orphan rare diseases and genetic diseases

its manual  for the people has a family history of genetic diseases, how to marry to exclude the defective genes The manual is available 

the 2 arms are infectious diseases 

1- Immunity guide ( Available ) 

completing instruction about boosting normal defense mechanisms, instruction on how to avoid rare viral diseases, third transmission host, endemic areas, vaccines availability, instruction on how to behave if outbreak new exist 

2- the X list program  

it lists found on the application contains differential diagnosis for patients and professional powered by the place you are in For Example ( suppose you are in Africa and you have symptoms the application will give you the differential diagnosis for available diseases probability, plus what is the sanitation guidance, what is the best palliative protecting medications, nearby specialized hospital , available vaccines 

all communities suffering from rare diseases or suitable for infectious rare diseases 

1- increase quality of life 

2- speed the processes and cost of healing 

3- social interaction with similar ones have the same diseases which support them psychologically 

the design for implementation 

1- first application phase 

2- data collection phase through boosting application to let all patients register 

3- adding new provider for charity 

4- making the 4 manuals of the solutions printed and in Soft copy with QR code in every places, clubs , Airports , hospitals , schools , universities  ...etc 

sharing best concepts & best practice and to win 

combined all new technologies  of data  plus holistic and social care under one profitable umbrella 

first-year to have all the tools of solution ready and after 5 years to be the best provider serving this category of patients  

Once we have 10 million users we can say that we succeed 

the theory of change is all the world and resources, prophylaxis elements in the hand of one have rare diseases or suitable 

the core technology 

1- application 

2- hardware blood analysis platform portable with its software 

3- machine learning & data integration 

4- the social platform 

5- free 4 books 

The clinical trial platform for third-stage drug development data and candidates 

he project is still in concept phase but actually the tools to perform is available through the innovation in the 4 books will cover 50% on the services which is 

1- Holistic Management of rare diseases  You Are Rare You Are precious 

2- Instruction for family to deal with patient with rare diseases ( your precious family Member )

3- Differential diagnosis book for rare infectious diseases 

4-  Future humanity free from Rare diseases book 

and the other 50% is through 3 platform will be build by AWS platform Amazon 

the value is in two word 

cut the time 

cut the cost 

the full integration between 5 arms for genetic rare diseases and two arms of rare infectious diseases 

which will add value through benefits and data exchange and even social compassion and mind relief of patient when he finds himself not alone, there are many people like him 

looking for fundraiser the project is profitable with 3 income sources