On the eve of the new year, my four-month-old son was diagnosed with leukocyte adhesion deficiency type I, a very rare primary immunodeficiency disease, so life-threatening that he could die from a diaper rash. As Donald Trump was inaugurated as the 45th president, my son was admitted to Memorial Sloan Kettering, where he now awaits the only known cure for his disease: a stem cell transplant.
This week, as we count down the days until his life may be saved, President Trump has proposed to slash the budget of the National Institutes of Health by 22%.
Only about a dozen scientists worldwide specialize in my son’s disease, and three of them are at the NIH. The $7.7 billion this administration proposes to cut from the NIH budget will restrict biomedical research, jeopardizing the health of millions of Americans with diseases like my son’s.
Scientific research conducted at the NIH was instrumental in both my son’s diagnosis and in developing his cure. One team in the NIH’s Clinical Pathophysiology Section researches genetic causes of diseases like LAD, an autosomal recessive disease produced when both I, an Indian woman, and my African-American husband had an error on the same part of the same gene on the same chromosome.
NIH scholars also study how the disease behaves, and helped my son’s doctors determine that an abscess on his leg was not an allergic response but a cluster of immune cells produced by his hyperactive immune system.
Of course, my son isn’t alone in his struggle. The NIH estimates that more than 25 million Americans have rare genetic diseases. Research from the Institute’s Office of Rare Diseases Research and the NIH Undiagnosed Diseases Program informs their care, and it also helps diagnose and treat millions of people with more common diseases.
The hallmark of rare disease research and care is consultation — between advocating parents and attentive doctors, between clinicians and researchers and between medical experts and elected officials. Consultations get sick babies diagnosed, keep their treatment regimens from killing them and help scholars devise the cures that save lives of millions more like them.
My son’s doctor at MSK routinely consults with one of the world’s few specialists in his disease, a distinguished principal investigator at the NIH’s Intramural Research Program, who is often able to guide his treatment based on research that has not yet been completed and published, and whose research in turn evolves based on information about my son’s case.
To save my son’s life, his doctors will destroy his faulty immune system with chemotherapy and regenerate a new one for him over the course of a year, during which time he will undergo surgeries to insert a feeding tube and central intravenous line, and will be vulnerable to even the most harmless bugs.
Gene therapies, experimental techniques that use or manipulate genes in order to treat genetic diseases, would spare future babies such suffering and would cost much less in time and money. In fact, an NIH researcher consulting on my son’s case is currently developing cutting-edge gene therapies that could edit the errors on faulty genetic codes like my son’s.
This means that future babies might be spared the extremely risky, painful, costly and lengthy cure of bone marrow transplant. But without funding from the federal government, this research may be discontinued.
General care hospitals have neither the incentive nor the resources to undertake the kind of research that will save my son’s life. NIH is one of very few institutions that functions as a home for diseases that would otherwise be orphaned if such research was left to commercial or general patient-care-focused hospitals.
Proponents of the administration’s budget suggest that a reorganization of the NIH would improve efficiency and streamline taxpayer monies. But taken together with this administration’s positions and policies toward health care access, immigration, scientific research and even education, it stands to reason that rare-disease research will suffer from far more than reduced funding.
It will wither in a harsh political climate that disputes not only the claims but inherent value of science, that deprives our research institutions of expertise from all over the world and that forces millions to consult Google rather than doctors they can’t afford without health insurance.
Trump’s budget also proposes to cut NIH’s Fogarty International Center, devoted to global health research. Along with the administration’s haphazard and often uncompromising approach to international relations, we may also see the end of such global initiatives as the International Rare Diseases Research Consortium. The NIH launched this consortium with the European Commission to deliver 200 new therapies for rare diseases and the means to diagnose more rare diseases by 2020.
But now millions of lives may be lost because people don’t have access to the kind of care they once did. In the battle against these kinds of diseases, access to care isn’t so much about the ins and outs of health insurance coverage, it is about the way doctors, patients and research scientists create knowledge together.
Investing in medical research means investing in these relationships, and these investments could not only save millions in treatment and care in the long run, but also leave us with a stronger, healthier society.
My son and the millions of others with diagnosed and undiagnosed rare genetic disorders rely on an uninhibited, unhindered community of scientists and researchers who are supported by humane, curious governments. I join the thousands of scientists who marched on Washington and stand beside the millions of mothers with sick children in pleading with Congress to kill this inhumane budget.