First, a heartfelt thank you for making 2019 a great year. It was an important year for Soft Bones as it marked our 10th year making a difference in the lives of families living with hypophosphatasia (HPP). Thanks to your support, we are increasing our impact in all areas of our mission: to provide valuable education, information and support for families living with HPP with the goal of finding a cure to this disease.

2020 is going to be a very exciting year. Research continues to be a top priority. Our Scientific Advisory Board closely monitors research relating to HPP, and continues to guide our organization to optimize current studies and propel new research opportunities. We have several trips to Washington, DC scheduled to advocate for research dollars to continue to move toward curative treatments as well as improved therapies and a better understanding of HPP.

I would be remiss if I did not give a very special thank you to our Region Leads, who have volunteered their time to provide patients and families with an opportunity to further their understanding of HPP. The importance of this program cannot be emphasized enough: our support is driven by your input. It is through your experiences that we can better identify new areas of research as well as gaps in support. Region Leads will continue to be an important part of our organization as we grow. I am grateful for you and your families for all your support!

We are continuing to put the finishing touches on our new website. We were hopeful to roll it out before the end of the year, but it will be early 2020 before we go live. Thank you to all who participated in last year’s Patient Engagement Survey on this topic.

Finally, we are set to print our first children’s book, Journaling My Hypophosphatasia by author Penne Wittner. The children contributed so much to this book and we are all so excited to get copies out to all of you who need them. The way this book came together was a story in itself, so please continue to read on to learn more.

May 2020 be the best year yet.

Page 1 A Message From Our FounderPage 2 • Soft Bones Book Goes to Print• In Memoriam• New Digs for Soft Bones

Page 3 Soft Bones 11th Annual Golf OutingPage 4 American Society of Bone and Mineral Research (ASBMR)

Page 5 NORD Summit

Page 6 Soft Bones Supports the Ensuring Lasting Smiles Act and Visits Capitol Hill

Page 7 Two Researchers Awarded Grants to Commemorate Soft Bones’ 10th Anniversary

Page 8 Research Roundup

Page 9 Soft Bones Goes Coast to Coast Hosting Two National Patient Meetings in 2019

Page 11 Region Round UpPage 14 Follow Us On Social Media

Page 15 • Arizona’s Iconic Water Tower

To Illuminate Red and White to Raise Awareness of HPP

• Important Dates in 2020

WINTER 2019

A MESSAGE FROM OUR FOUNDER

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WINTER 2019

Soft Bones is excited to report a new children’s book, Journaling My Hypophosphatasia, is final and ready for printing!

In collaboration with author, Penne Wittner, the book was written with input from children in our Soft Bones HPP community. Penne has a passion for helping explain complex health issues to kids in a way that they understand. Penne came to work with Soft Bones in a very unusual way. She called the Soft Bones toll-free number trying to get help for a friend who was exhibiting similar symptoms to HPP. It turned out that her friend did not have HPP, but Penne

was very interested in learning more about what Soft Bones was about. She and Denise spent time talking about hypophosphatasia, the children it affects and our patient community. By the end of the conversation, Penne said she wanted to help and offered to work with us on this book.

As luck would have it, Penne also came to realize that she has a personal connection with an HPP patient! We are grateful for Penne’s contribution and we can’t wait for everyone to see the final product of this unexpected partnership.

We will miss her kindness and willingness to help others. Juli is now reunited with her HPP angel, Christopher. We will keep her husband Clete and her three sons, Cameron, Grayson and Jack in our thoughts and prayers.

NEW DIGS FOR SOFT BONESWe are very excited to share that Soft Bones has new office space located at suite #309 at 1719 NJ-10 in Parsippany, NJ. Please note, our mailing address will remain 141 Hawkins Place, #267, Boonton, NJ 07005. The space was generously donated by Commercial Properties Management, Inc. and the furniture was donated by CJ Office Furniture.

We are also grateful to Delta Dental of NJ and Connecticut for painting the office as part of their All Associates Volunteer Day. In addition to painting, the volunteers also stuffed, sealed and stamped our annual appeal mailing.

The new space will be used for storage and as a place to host meetings. Volunteers will gather here to help us with our various initiatives, such as stuffing new patient packets, processing mailings, and preparing for fundraisers.

IN MEMORIAMThis year, with great sadness, we share news of the loss of another long-standing member of our Soft Bones community, Juli Kimbrough-Hardy. Juli was a champion of Soft Bones and one of the first people to support our efforts when we were a fledgling advocacy organization.

SOFT BONES BOOK GOES TO PRINT

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WINTER 2019

SOFT BONES 11TH ANNUAL GOLF OUTING The Soft Bones 11th Annual Golf Outing was held on Monday, September 23rd at Somerset Hills Country Club in Bernardsville, NJ. Golfers enjoyed another picture-perfect day on this prestigious course. Prizes were awarded for the longest drive and closest to the pin.

Following the day on the links, attendees and guests enjoyed a cocktail hour with hors d’oeuvres complete with a sumptuous carving station. We had two surprise auction items, six Giants vs Dallas tickets including VIP parking and NJ Devils tickets to watch the game along with Martin Brodeur in his personal box. The bidding was very competitive for these amazing items.

We also had a pop-up shop where we sold some of our Soft Bones swag. If you are interested in seeing a complete list of items available, please reach out to Adriane at adriane@softbones.org anytime throughout the year.

We are grateful for our Sponsors! Thank you to:

Tournament Sponsor: Atlantic Health System

Eagle Sponsors: Donnelly Construction, The Fowler Family Foundation, Green Room Communications

Longest Drive Sponsor: Pat Mucci and The Mucci Companies

Closest to the Pin Sponsor: The Pennbrook Group – Merrill Lynch

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ASBMRIn September, Soft Bones had a booth at the American Society of Bone and Mineral Research (ASBMR) Annual Meeting in Orlando, FL. The ASBMR Annual Meeting is the world’s largest and most diverse meeting in the bone, mineral and musculoskeletal research field, attracting more than 3,000 attendees from more than 70 countries, including clinicians and researchers, representing all career levels and specializing in a variety of disciplines.

We had many interesting and informative conversations and distributed disease information materials to over 200 visitors. Our booth featured a photo booth where we took pictures of each of the visitors holding various props and posted them to social media. Our hippo mascot was a huge hit!

We are grateful to the members of the Soft Bones Community who came to staff the booth as part of our Advocacy in Action program. We will be posting about upcoming opportunities to help out at medical meetings as the needs arise.

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IT HAS BEEN A BUSY YEAR FOR SOFT BONES. WE HAVE HAD BOOTHS AT MANY

DIFFERENT CONFERENCESMost recently, Soft Bones exhibited at the Greater New York Dental Meeting at the Jacob Javits Center in Manhattan and connected with over 150 dentists, students, dental professionals and researchers about hypophosphatasia.

NORD SUMMITDeb Fowler participated on a panel discussion at the NORD Summit in Washington DC. The panel talked about how artificial intelligence is being used to shorten the time to diagnosis, which can help identify new HPP patients to get them support sooner and can help support research initiatives. Deb discussed the NIH FaceBase program, a resource for craniofacial researches. FaceBase is a curated, one-stop shop for facial development and research is a collaborative NIDCR-funded consortium that generates data in support of advancing research into craniofacial development and malformation.

If you are interested in learning more about the NORD Summit, please visit their website at https:/ rarediseases.org/.

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WINTER 2019

We are pleased to share that Soft Bones has been added as a supporter of this important legislation, Ensuring Lasting Smiles Act (ELSA). ELSA legislation would require private health plans to cover medically necessary services that repair or restore congenital anomalies. If passed, this legislation will help to ensure coverage of dental work for HPP patients.

Deb was joined by Nellie Taylor Sanders and her husband, Oklahoma State Rep. Mike Sanders as they spent the day on Capitol Hill to educate on HPP. They met with the offices of Rep. Rosa Delauro (CT) and Rep. Stephen Lynch (MA), as well as,

Rep. Frank Lucas (OK) and managed to secure additional support for the ELSA legislation. They also talked about a National HPP Awareness Resolution and there is a good chance we will have an opportunity for a member of Congress to take the floor and educate on HPP!

Soft Bones is grateful for the Sanders family and their support in making these meetings happen. Thank you, Sanders family!

If you are interested in learning more about the Ensuring Lasting Smiles Act, please check out this press release at https://www.baldwin.senate.gov/press-releases/ensuring-lasting-smiles-act-2019.

SOFT BONES SUPPORTS THE ENSURING LASTING SMILES ACT AND VISITS CAPITOL HILL

WEBINARSSoft Bones recently presented two informative webinars. The first, entitled The Emotional Effects of Living with Chronic Rare Disease was presented by Adrianna Tuomi, LCSW ; The second, entitled HPP: Assembling and Coordinating Your Personal Care Team was presented by Drs. Kathryn Dahir and Jill Simmons from Vanderbilt University Medical Center. The recordings of these webinars can be found by visiting our YouTube Channel!

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WINTER 2019

TWO RESEARCHERS AWARDED GRANTS TO COMMEMORATE SOFT BONES’ 10 TH ANNIVERSARYIn commemoration of its tenth anniversary, Soft Bones awarded TWO grants for the first time ever. Soft Bones is pleased to award its tenth annual Maher Family Grant to Dana Gaddy, Ph.D., Professor of Veterinary Integrative Biosciences at Texas A&M University to study a sheep model for hypophosphatasia; and Dobrawa Napierala, Ph.D., Associate Professor of Oral Biology at the Center for Craniofacial Regeneration, University of Pittsburgh School of Dental Medicine; to study adolescents and adults with HPP.

Dr. Gaddy, in collaboration with her co-investigators Dr. Sarah White and Dr. Larry Suva, will conduct research using their novel findings of muscle structure and ultrastructural defects in sheep with HPP to determine the cause of muscle weakness commonly seen, but poorly understood, in HPP patients.

“I am inspired to effectively accomplish the proposed research aims with support from this Soft Bones grant,” said Dr. Gaddy. “Our goal is to use the sheep model to identify specific targets of altered muscle function that may be amenable to muscle-specific intervention in patients with HPP. These funds further empower us to resolve muscle weakness in all HPP patients, including my granddaughter,” she continued.

The Scientific Advisory Board for Soft Bones considers grant applications and oversees material development to ensure medical accuracy and provide strategic guidance for research grants. The Board, comprised of internationally known, multi-disciplinary experts, is chaired by Michael P. Whyte, M.D., Medical-Scientific Director at the Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children and Professor of Medicine, Pediatrics and Genetics at Washington University School of Medicine in St. Louis, MO.

“A significant appeal of Dr. Gaddy’s proposal is that it moves closer toward the HPP patient,” said Dr. Whyte. “Prior to this, the only animal model was in mice. The sheep model is more ideal for examining bone and dental changes that affect HPP patients and could ultimately lead to therapeutic innovations benefitting patient outcomes,” he added.

The second grant will fund a research project conducted by Dr. Napierala to address the novel role of tissue-nonspecific alkaline phosphatase (TNSALP) in the mineralization process, which is the underlying cause of the majority of skeletal deformities and dental problems in HPP patients.

“My ultimate goal is to understand the molecular bases of human disorders affecting the formation of bone and teeth for the improvement of therapeutic approaches,” said Dr. Napierala. “This grant will allow me to explore the novel, previously unrecognized, function of alkaline phosphatase in bone and tooth cells, as I seek to help identify new treatment approaches that are applicable to various bone and tooth formation diseases.”

“Dr. Napierala’s research aims to provide a better understanding of molecular mechanisms underlying genetic mineralization disorders including rickets, osteomalacia and, most importantly for Soft Bones, HPP, ” noted Dr. Whyte. “Her research may provide a premise for evaluating TNSALP as potential treatment for these disorders.”

These are the tenth and eleventh research grants Soft Bones has awarded since its founding.

Dr. Dobrawa NapieralaDr. Dana Gaddy

and Dr. Larry Suva

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RESEARCH ROUNDUPA MESSAGE FROM DR. MARC MCKEE, MONTREAL, CA AS HE CONTINUES TO RESEARCH THE MINERALIZATION OF TISSUES AND THE UNDERLYING CAUSES.

TWO TIME GRANT RECIPIENT DR. LUKE MORTENSEN

“The Soft Bones organization has consistently and generously supported international conferences that I have organized that focus on the basic mechanisms underlying how various tissues harden by mineralization. At these conferences, world experts and emerging young researchers and students converge to present and discuss their research findings on biomineralization. This includes not only findings on mineralization mechanisms in the skeleton, but also in teeth and cartilage, and it additionally includes discussions on how mineral forms across many biological systems

throughout the animal world. All this gives us lessons on what to look for and what to investigate that might be germane to skeletal and dental health, and to what goes wrong in HPP and other mineralization diseases.” – Dr. Marc McKee.

To learn more about the International Conferences on the Chemistry and Biology of Mineralized Tissues (ICCBMT), please visit their website at https://www.iccbmt.org/.

“We have been supported by the Soft Bones Foundation to pursue research on creating bone-forming and immune-modulating therapeutic cells that could boost bone mineralization and fracture recovery in HPP patients. In collaboration with Athersys, a company with multiple cell therapy clinical trials ongoing, we are investigating unique cell lines to identify elevated alkaline phosphatase (ALP) and mineralization outcomes. We are further investigating the potential of manipulating these cells during biomanufacturing to improve their ALP production and therapeutic potential.

This past year, we have been working to optimize our assays, and to perform preliminary testing of compounds to enhance the bone forming ability of the cells in vitro. Over the next year, we will be testing the cells from Athersys and moving toward in vivo evaluation of cell therapy. Our findings could provide a unique approach that could improve HPP patient health and wellbeing and without the support of the Soft Bones community this work would not be possible! ” – Dr. Luke Mortensen.

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WINTER 2019

SOFT BONES GOES COAST TO COAST HOSTING TWO NATIONAL PATIENT MEETINGS IN 2019To mark its 10th year, Soft Bones held two national patient meetings in 2019.

These meetings are important on several fronts. They not only foster a deeper connection in our patient community, but also provide a venue for education to further discuss important research initiatives.

In all, 47 families gathered. It was great to see old friends connect and new friends being made. Region breakouts were held as part of the agenda at both meetings, to allow region attendees to meet one another, discuss their disease journey and talk about upcoming region meetings. We were also grateful to have OneSource and PANTHERx Specialty Pharmacy (NJ only) on hand to provide participants with an overview of the services their organizations provide.

The first meeting took place on July 13th in San Diego, CA at the Sanford Burnham Research Center. Dr. Jose Luis Millan, from our Scientific Advisory Board, hosted our group at this “state of the art” facility. The agenda included fascinating presentations by Dr. Kirk Aleck (Phoenix Children’s Hospital), Dr. Jose Luis Millan (Sanford Burnham), Dr. Mark Nunes (Southern California Permanente Medical Group) and Dr. Pedro Sanchez (Cedars-Sinai Medical Center).

The presentations helped to provide a greater understanding of HPP and the associated genetics as well as what Strensiq™ was developed for and its limitations. A discussion on where research is

now being focused also took place. One activity involved different colored socks being used to illustrate HPP inheritance patterns. Dr. Nunes led this engaging activity and donated the socks to Jewish Family Services following the meeting.

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WINTER 2019

SOFT BONES GOES COAST TO COAST HOSTING TWO NATIONAL PATIENT MEETINGS IN 2019 (CONT’D)The second meeting was held on October 26th in Parsippany, NJ. This was a great way to kick off HPP Awareness Week. This agenda included informative presentations by Dr. Helio Pedro (Hackensack University Medical Center), Dr. Dobrawa Napierala (University of Pittsburgh School of Dental Medicine, Dr. Pedro Sanchez (Cedars-Sinai Medical Center), Lauren Myler, LCSW, and Nichole Macknight MSW, LSW.

Attendees learned about HPP and genetics and heard a fascinating presentation by Dr. Napierala about her HPP research (See Awarded Grants on page 7). The afternoon was spent focusing on the Emotional Effects of Living with a Chronic Rare Disease. Our HPP Community member Nichole Macknight, MSW, LSW led the group in a Self-Care Kit Workshop which included activities on journaling, breathing and stress relief. We had fun with the photo booth in NJ as well.

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WINTER 2019

REGION ROUND UP REGION MEETINGS IN 2019Thank you to our Region Leads who hosted meetings this past year! The region meetings are a great way for families to connect and allow deeper discussion of areas of interest as well as a way to provide better understanding of gaps in support and research.

• South Central held a meeting on June 8, 2019 in Canyon Lake, TX.

• The Southeast region held meetings in Biloxi, MS on May 25, 2019, Nashville, TN on June 29, 2019 and Orlando, FL on September 21, 2019.

• Midwest I held a meeting in Chicago, IL on May 25, 2019.

• Midwest II held a meeting in Newark, Ohio on June 22, 2019.

• The Central region held a meeting in Kansas City, MO on August 3, 2019.

• The Southwest region held a meeting in Summerlin, NV on October 19, 2019.

As a reminder, if you are active on Facebook, please join your region page. Region Leads will be posting about upcoming meetings and region activities and it’s a great place to interact with others in your region. Do not worry -- if you are not on Facebook, we will also be emailing those in our database details about region meetings.

If you need to update your email or need assistance joining your region Facebook page, contact info@softbones.org. SOUTH CENTRAL: Canyon Lake, TexasSOUTH CENTRAL: Canyon Lake, Texas

MIDWEST I: Chicago, IL MIDWEST I: Chicago, IL

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REGION ROUND UP REGION MEETINGS IN 2019 (CONT’D)

SOUTHEAST: Orlando, FL

SOUTHEAST: Nashville, TN

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WINTER 2019

REGION ROUND UP REGION MEETINGS IN 2019 (CONT’D)

MIDWEST II: Newark, OH

SOUTHWEST: Summerlin, NV

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WINTER 2019

REGION ROUND UP REGION MEETINGS IN 2019 (CONT’D)

CENTRAL: Kansas City, MO

DON’T FORGET TO FOLLOW US ON SOCIAL MEDIA!

• Facebook: softbones

• Instagram: softboneshpp

• Twitter: @softboneshpp

• YouTube: Soft Bones HPP

• Pinterest: @softbonespinterest

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WINTER 2019

ARIZONA’S ICONIC WATER TOWER TO ILLUMINATE RED AND WHITE TO RAISE AWARENESS OF HPP

The water tower in Gilbert, Arizona was originally built in 1927 and instantly became a town icon and source of great pride. It was used to store water for firefighting and later stored drinking water. Today, it’s a central gathering place and source of awareness and recognition of community holidays. This year on Rare Disease Day, Soft Bones is honored to have the tower lit in red and white to raise awareness of hypophosphatasia. We will be conducting media outreach in the area to share stories of our HPP patients in Arizona, including our own HPP hero Aubrey Britt, who resides in Gilbert with her family.

You can follow #LightUpGilbert on Twitter and Instagram to find out why the Gilbert Water Tower is lit up a different color and be sure to follow Soft Bones on social media (see page 4) and our website for photos and more HPP facts leading up to Rare Disease Day.

IMPORTANT DATES IN 2020 SOUTHEAST REGION MEETINGSaturday, February 22 in Nashville, Tennessee.Contact Blynda Kellner at Blynda@SoftBones.org.

SOUTHWEST REGION MEETINGSaturday, February 29, 2020 in Phoenix, AZ.Contact Sue Krug at Sue@SoftBones.org.

RARE DISEASE DAYSaturday, February 29

AAPDMay 21-24 in Nashville, Tennessee.

ASBMRSeptember 11-14, 2020 in Seattle, Washington.

HPP AWARENESS DAYOctober 30.