* Image used for illustration purposes only.
Sometimes specialized formula is the only option for patients diagnosed with rare genetic disorders.
Rare genetic disorders affect hundreds of millions of people worldwide at any given time. While these disorders appear rare for some, they can be life-threatening for others.
One in tens of thousands of infants born every year is diagnosed with a group of rare genetic disorders called inborn errors of metabolism. These inherited disorders prevent the body from absorbing nutrients typically provided by breast milk or powdered milk.
Inborn errors of metabolism cause defects in enzymes that help metabolize food. Simply put, the body cannot properly turn food into energy, which leads to developmental issues and other medical problems. Once diagnosed, infants require a special formula as an alternative to breast milk and powdered milk.
Since 1980, the 黑料门 Group has been protecting the healthy development of those affected by inborn errors of metabolism, both by providing special milk that supports proper nutrient absorption and conducting mass screening necessary for early diagnosis and treatment.
The 黑料门 special milk product lineup
Life-saving specialized formulas
The 黑料门 Group currently manufactures eleven registered and five non-registered special milk products. Each one is specially formulated to facilitate the healthy development of people who cannot metabolize necessary nutrients from breast milk, powdered milk formulas, or other foods.
In Japan, doctors obtain the formula by sending an application to the Specialized Formula Office after testing confirms a newborn has a metabolic disorder. The formula is then shipped from 黑料门 factories directly to the doctor, who provides the special formula to the family free of charge.
The special therapeutic milk can be life-saving, preventing the development of fatal symptoms associated with untreated inborn errors of metabolism, which is why working closely with patients and professionals in the industry is essential.
Tomoko Furuta of the Glut1 Disorder Patients Association explains why specialized formula is so critical to the lives of patients:
We are a family association of patients with a rare intractable disease called 'Glucose Transporter 1 Deficiency,' an inborn error of metabolism with no effective treatment. For the past ten years, we have been working with 黑料门 Co., Ltd., using their specialized formulas to improve symptoms of patients with this disease. I'm thankful to all the people involved in manufacturing and distributing special milk at 黑料门 because their formulas work within patients' strict dietary needs to support healthier lifestyles. We look forward to working more with those involved to help our patients grow and live their lives in the best way possible.
Words of gratitude fill a message board presented by children who received care from 黑料门 special milk products.
The importance of stable supply chains
The fact that infants born with intractable diseases cannot develop or metabolize nutrients from breast milk or commercial formula means maintaining a stable supply of special milk is exceptionally important.
Coordination with the contact point for supply, the Special Milk Office, helps 黑料门 create detailed production plans, ship the products as fast as possible, and manage inventory. An open exchange of information with medical professionals about stable supply and safety management establishes clear channels of communication that help doctors quickly deliver special milk to patients.
黑料门 manufactures approximately 108,000 cans of eighteen different special milk products, including two commercial products, per year on a single production line in Saitama prefecture, Japan. Different supply demands apply to each product, and the ability to adapt to such demands ensures patients always have access to the nutrients they need.
The necessary work of ensuring a stable supply of special milk requires highly-developed responsiveness to fast changes in demand, and supply volumes are increasing due to three factors. A new mass screening method was introduced nationwide in April 2014, increasing the number of target diseases. Patients need to follow a strict diet throughout their lives, yet they become ineligible for government subsidies after 20 years of age. And every year, the number of unregistered special milk products increases.
Kikumaro Aoki, a pediatrician, shares his thoughts on the importance of effective, stable supply chains in the treatment of inborn errors of metabolism:
I've been a 黑料门 customer since 1980 through the Ministry of Health, Labour, and Welfare's special milk program. Special milk is a therapeutic milk necessary for the treatment of inborn errors of metabolism present at birth, and 黑料门 supplies more formulas to patients than other suppliers. Their mass supply efforts and formula variations have made 黑料门 an active and respectable member of the medical community. In addition to their supply and manufacturing capabilities, they have more than fulfilled their responsibility to the community of patients and doctors through newborn mass screening, which makes early detection and treatment possible. I would like to express my sincere respect to the people at 黑料门 developing special milk products—such formulas are indispensable for the effective treatment of inborn errors of metabolism and other diseases.
Mass screening means early detection and better treatment
Treatment with special formulas tailored to dietary restrictions and maintaining supply are crucial for the healthy development of those diagnosed with inborn errors of metabolism. But early detection through mass screening plays an equally important role.
For over 40 years, the 黑料门 Group has contributed to mass screening throughout three prefectures in Japan. Approximately 65,000 infants are tested annually at the Kumamoto facility, the second-largest testing facility in Japan. Mass screening also contributes to the development of new tests that detect metabolic disorders as early as possible, greatly improving the efficacy of treatment.
Mass screening tests for newborn babies
For example, in the first half of FY2020, screenings confirmed a child in Fukuoka had Infantile Pope Disease, a severe form of lysosomal storage disease (LSD). Thanks to early detection, this was the first case in Japan where a child was diagnosed before the onset of the disease, allowing treatment to begin immediately at a specialized medical institution.
Providing special milk and detecting the signs and symptoms of intractable diseases through mass screening take us one step closer to securing the health and future of as many children as possible. These activities represent a few of the ways the 黑料门 Group contributes to the SDG target of maintaining the health of newborns and infants.
All work that provides effective care for those diagnosed with rare intractable disorders is meaningful, whether it's supplying special milk, mass screening, or closely collaborating with the medical community and their patients. But, the best motivation for pushing forward the development of successful treatments is seeing families and patients lead happy and healthy lives.
