The Growth Hormone Shortage is Putting our Daughter's Life at Risk
My name is Aileen and I am married to my husband, Nick. We both work and live in the Boston area with our almost 3-year-old daughter. We are a very typical family and enjoy a love of the outdoors and traveling with our little girl. She loves spending time with her family and friends and her most beloved cat, Belle.
After a very uneventful pregnancy, including reassuring genetic testing showing a healthy baby on the way, we had a complete shock and life-changing diagnosis. Our daughter was diagnosed with Prader-Willi Syndrome (PWS). This non-hereditary, genetic disease affects 1 in every 15,000 babies born, it affects all races and genders equally. It was a grim sentence, and we were full of grief and fear for our daughter’s future.
In short, PWS presents as a damaged hypothalamus, which is the small organ in your brain that controls your endocrine system. This spectrum disorder affects every system in a child’s body, the hallmark symptoms being low muscle tone early on and switching over to hyperphagia (the inability to feel full) as the disease progresses. Growth Hormone deficiencies present serious challenges for PWS children. PWS families typically have a full schedule of doctor’s appointments across a multitude of medical professions throughout their lives, especially within the first few years. PWS adults historically were not able to live independently.
Yet, there was hope or as the saying now goes, “hope is here”. PWS families were fiercely advocating and fundraising for new treatments and therapeutics and their advocacy worked! Growth Hormone (GH), a daily injection, became the only FDA-approved treatment for this disease. If administered as early as possible, Growth Hormone has life-altering long-term outcomes which include:
Improved phenotype appearance.
Improved body composition.
Improved physical strength.
Improved overall cognitive levels.
It changed the natural history of this disease entirely. These children now have the chance to develop along with their typical peers. We are now seeing PWS children go to college. PWS children may have a life of independence because of these current and upcoming medical advancements, including Growth Hormone.
My daughter is nearly indistinguishable from her cousins and friends at school because of early and regular access to this treatment and these drugs. I cannot stress how life-changing this is! Fast forward from those early days of uncertainty and fear, if I only knew the joys our sweet, smart, funny, and most sociable little girl would bring, it would have saved us so much pain.
Unfortunately, we now must fight another battle - the Growth Hormone Shortage. My daughter’s life depends on this drug! PWS children that have gone without Growth Hormone during this shortage are and will continue to suffer detrimental outcomes on their long-term brain and body development.
I have spent countless hours of my time and mental sanity trying to make sure we could get at least some of her needed GH, an additional stress no medical parent needs. We also will no longer be able to participate in a preventative trial due to the delay being so long (a trial to prevent hyperphagia from ever happening, and an extremely promising one). The loss of this life-saving opportunity was directly because of the ongoing shortage and cannot be described in words. These stressors not only put my daughter’s life at risk, but they have also kept her from a potential treatment that could prevent the worst symptom of this rare disease, hyperphagia.
Even when supply is available her treatment is still impacted. Before the shortage, we took a blood test quarterly to assess our daughter’s GH deficit and ensure she was getting the right amount. This test allowed our medical team to adjust dosage to ensure she was getting the right amount as her body grows. Due to the shortage, we are unable to get the tests because of the sheer amount of paperwork and phone calls our provider must navigate to get her patient's GH. She simply could not accommodate writing up the additional blood labs to send out.
I am sick thinking about what this may mean for her future. Our smart, funny, happy little girl is being denied the life-changing opportunity to develop like any typical child.
My mental health, in balancing all the additional medical needs, grief, and unknowns along with every typical stressor of a full-time working mother, has taken its toll. There is nothing worse than something bad happening to your child, and more so when the only tools you have to help them are taken away.
Our children’s lives depend on this drug. Some families cannot get any doses, and many of us are giving our children lower doses than what they should be getting to ration what doses are available.
My hope in bringing awareness to the continued pain and long-term suffering of the shortage is that we can address some of these horrific shortcomings in our pharmaceutical supply chain, including a patient friendly approval process to receive access to alternative treatments within the insurance and specialty pharmacy markets for drugs on shortage. It is a human right for these rare disease children to have access to their medicines, they deserve the chance to have every opportunity at life as any other child.
Angels for Change has been a light in all of this. They have been the only ones who were able to listen, empathize, and take action to help make a change in this broken system. Repairing the faults that lead to this drug shortage will not only help our daughter and the PWS community, but every single person in this country who is struggling to find medication right now due to drug shortages.