The temporary loss of Abbott products have resulted in a broken continuum of care for the clinical management of many inborn errors of metabolism (IEM), specifically leaving those diagnosed with rare (and often genetic in nature) medical conditions with minimal to no alternatives, a disproportionate and unfair economic burden, and utterly, medically disenfranchised.
In recent months, I have experienced the emotional, physical, and financial impact of having to change prescriptions for the clinical management of my PKU with the lifesaving nutrition afforded by specialized, metabolic formula. I relied on Phenex-2, product of Abbott, to get me through 3 pregnancies that would not have been viable had it not been for proper dietary management with formula – a standard of treatment for PKU – as a woman of child bearing age living with this rare, genetic disorder. It should be known that failure to properly treat PKU mothers results in devastating birth defects in their offspring, such as microcephaly, congenital heart defects, and developmental delay. This is why there is no greater invention in the history of biochemical genetics than with metabolic formula – as separate and distinct from traditional infant formulas – because it saved my life and my childrens’ lives. The proper utility and role of specialized metabolic nutrition should be made quite clear – imagine, preventing devastating illnesses and disease manifestations before they become too costly and difficult to treat?
Sadly, I learned of this shortage and crisis when individual circumstances warranted a change in my prescribed metabolic formula. As a result of Abbott’s temporary shutdown in production, a backorder has resulted in the few remaining metabolic firms serving the IEM community. This rippling effect has been felt upon patients like myself and many others, in need of equitable and affordable options to prevent short term disability, brain damage, and/or long term sequelae since PKU is not just a rare disorder of children only. PKU is a lifelong medical condition with prevalence of 1 in 15,000 among the 20, 0000 individuals living with IEM in the United States.
The greater IEM community needs an equitable and affordable solution and fair representation across all ages as compared to the rest of consuming public, much different from the food insecurities challenging moms as highlighted in the national media spotlight. For example, critical consumer protections are being proposed under the Biden administration to afford options and alternatives to mothers through WIC as they should. However, the expectant moms at high risk living with rare diseases as PKU – as has been for decades – have been afforded zero assurances in legislative protections for equal and affordable access to PKU formulas to protect their lives – and the lives of their offspring from severe birth defects, or even death in some cases of similar IEM. For PKU and similar IEM, metabolic formulas are significantly more expensive compared to the rest of the consuming public, including WIC beneficiaries who have federal assistance for 1) alternative options and 2) alleviating the financial burden.
Monthly formula costs for patients with IEM can equate to a mortgage payment for some, and for which insurance does not cover, or does so discriminately based upon a patient’s age, zip code, and gender. This crisis will not end for us once the supply chain resumes. Specialized, lifesaving medical nutrition with provision of metabolic formulas intended to treat PKU and similar IEM are not affordable without adequate health insurance coverage. Affordable Care Act does not address this essential, unmet, medical need. Nor does availability translate to accessibility – as has been my fight my whole life. Imagine choosing between having a roof over your head versus lifesaving nutrition. President Biden and the US Congress can act now and sign into law the Medical Nutrition Equity Act. We need a commitment to sustain our future after this shortage ends so our children never experience this crisis and have opportunity to live freely, safely and are assured their health. Please help. For patients with IEM, food – in provision of specialized, metabolic formula, is truly medicine.