We spoke with Deborah Fowler, President and Founder, of non-profit Soft Bones to learn more about this rare metabolic disease. Soft Bones is a Delta Dental of New Jersey Foundation grantee.
;Q: Can you share with us the mission and purpose of Soft Bones?
Deborah: My son was 4 months old when I realized that something wasn’t right. He was missing his developmental milestones, not eating or sleeping well, and then at just one year old, he lost his first tooth with the root intact. It took 18 months before I finally got a diagnosis of hypophosphatasia (HPP). I had never heard of the disease before and searched for other families to turn to for support, only to find out there was not an established patient advocacy group for this rare metabolic disease. I founded Soft Bones in 2009 with the mission of providing valuable information, education and support for people living with hypophosphatasia (HPP), their families and caregivers. The Foundation promotes research of this rare bone disease through awareness and fund-raising efforts.
Q: What are the signs of HPP, including the oral health implications of HPP?
Deborah: Every patient has a different journey to diagnosis. Some people see that their alkaline phosphatase is low outside the normal reference range on a traditional blood panel and start to ask questions about why. Other patients have unexplained pain or fractures. Still, others experience the premature loss of a tooth or their dentist may realize this is a symptom of underlying disease and refer them to a pediatrician or an endocrinologist.
HPP is genetic so patients typically have inherited a mutation in the TNSALP gene from a parent or both parents. The dental manifestations of HPP are caused by the underlying disease impacting the cementum, which results in an instability of the tooth causing deciduous teeth to loosen and come up by the root. Patients also need to have more frequent dental cleanings to help prevent caries.
HPP has a wide spectrum of severity and can impact more than just the skeleton and teeth. The metabolic impact of low ALP can cause neurological challenges, kidney calcifications and other symptoms that researchers are still trying to better understand.
Dentists who are interested in learning more about HPP should visit Softbones.org or email info@softbones.org.
Q: What are the main challenges that those with HPP (including caregivers) have to deal with?
Deborah: The biggest challenge patients face is the lack of awareness of HPP and its complications among medical professionals. Patients often feel their concerns are not taken seriously, which can cause them anxiety and other emotional impacts.
Because the disease presents differently for each patient, the challenges also vary. Some patients require mobility devices, such as wheelchairs, canes or walkers. Others are quite mobile, but experience fractures that can require surgery to aid with healing. Depending on how the disease progresses, the burden of managing the multiple specialists (dentists, orthopedists/orthopedic surgeons, neurologists, nephrologists, ophthalmologists, endocrinologists, rheumatologists, geneticists, pain management specialists and more) can cause a lot of stress for patients and caregivers. There are some HPP Centers of Expertise that operate on a clinic model, which allow for patients to see specialists on a single day and allow for easier collaboration between medical providers.
Q: How can dental professionals best support the efforts of Soft Bones?
Deborah: First, learn more about HPP and be on the lookout for patients who may have dental issues resulting from underlying disease. Dentists are many times on the front lines of an HPP diagnosis.
Another way you can help is to let us know if you have HPP patients that you are currently treating so we can add you to our HPP Dental Referral List. Or, if you would like to learn more about HPP, let us know so we can add you to our mailing list and alert you when we have educational opportunities.
Finally, we encourage dentists who are familiar with HPP to consider publishing case studies, in dental journals, to help other dentists better understand how HPP can vary from patient to patient.
Q: What motivates and inspires Soft Bones as an organization?
Deborah: We are inspired by our patients. Living with a chronic disease can make every day a challenge. It is not uncommon for patients to educate doctors about their needs and about HPP. We may have soft bones, but we have strong hearts.
Q: Is there anything else you’d like to share with us about HPP and Soft Bones?
Deborah: We also do a lot of work to help patients with access challenges, which range from accessing medical experts with HPP experience to challenges they have with insurance denials and appeals. We advocate for HPP on Capitol Hill to educate lawmakers on HPP and were initial sponsors of the pending Ensuring Lasting Smiles Act (ELSA), which helps ensure patients who have diseases that require additional dental care have access to insurance coverage.
We would be remiss if we did not thank Delta Dental for selecting Soft Bones as a recipient of the mini S.M.I.L.E. grant, which allows us to exhibit at dental meetings, expand our Dental Referral List and partner in new ways to raise awareness of HPP among dentists and other key audiences.
