Holly’s Story

I was 22 years old when you were born and had a kindergartner, your brother, as well. I knew something was going on with you, but physicians dismissed my concerns over and over. I guess they thought a 22 year old wasn’t a match for their years of education. However, my awareness and willingness to push forward to find a diagnosis was my goal!

After 4 bouts of bronchitis and pneumonia, as well as delays in your gross motor skills, I became more uneasy. You see, you kept your legs in a frog position like a colic baby, cried 22 hours out of 24, wouldn’t let me hold you to breastfeed you unless you were in your seat, and were just overall agitated. I was on the brink of losing it with the pediatrician who constantly told me I was an overprotective mom.

Well that just didn’t settle right with me, so I took you back to Baltimore to your brother’s pediatrician he had when I lived there. She immediately took me back to the office with you because she saw the panic in my eyes and she was always a good listener. Her concerns were heightened as well. Your fontanels were bulged, your breathing was shallow, and your fever was 105. I’m sure I would have lost you that night had I not listened to the guidance God was giving me—to seek others. As a result, Dr. Mejia told us to go to Franklin Square ASAP or she was calling an ambulance. I rushed you there and the journey began, but finally we were on a path to a diagnosis. They ran x-rays to see if you had pneumonia.  Of course you had it again, but I already knew what our hometown pediatrician dismissed over and over, just listening to me.

In addition, the stares, the nervousness, and the questions began. I can’t tell you how frightened, as a 22-year-old, I was in this setting being drilled like I was a monster. I had always worked with children for a job and loved being a mom, it was my career! When they told me you had broken ribs, I felt defeated! I felt like I had failed my baby girl. I was hurting you every time I held you. You felt pain instead of love with the closest thing an infant should feel when being held and breastfed!

I was so damn angry that pediatrician didn’t listen, I wanted to take him down in court but what would that do? It would just hurt others who needed help in healthcare. Suing someone doesn’t resolve justice for rare diseases, only investing in a cure does. My answers must have been that of a loving mom to further their questioning of what they thought was CHILD ABUSE! I thought I was going to need a lawyer. One pediatrician, a 28-year-old, Dr. Jillian Adams pushed on to figure out what was going with you baby girl. In the middle of the night, she came in to spill the news, she was sure you had a rare disease called Hypophosphatasia (HPP). Johns Hopkins Hospital would be there in the morning to confirm. She was dead on with her diagnosis. Finally, I wasn’t crazy, I was a mom seeking a diagnosis for her daughter, to give her the best quality of life, the best medical attention, the best LIFE!

Your diagnosis was bleak, over 50% are terminal before the age of 1. For awhile, yes I was depressed, then the spirituality and guidance from our God pushed me forward not to buy into the plan of science, but into His plan. That plan was to defy the odds! We defied the odds baby girl because you are here, your are very much alive and living your life, now a quarter of a century and thriving more than ever!

You are a beautiful young woman with a whole life ahead of you! Married, successful in your job, and just an overall loving, caring person! As your mom, I have never been more proud. In fact, I gave my life for you. I never gave up, spent countless hours researching, finding the best physicians who understood hypophosphatasia, lived at hospitals, lived at therapy, and YES I WAS LIVING FOR YOU AND YOUR BROTHER. So last night when you came down with the surprise of my life, it brought back so many flooding memories, but it has all been worth it because as a member of Soft Bones and you as a patient to receive STRENSIQ™—the first FDA approved drug for HPP therapy  you will get the help you need. You will get help with the bone density you don’t have, but hopefully will now have – get the help to prevent the 65 year–old body you live in feel more like your actual age!

YES, SHE GOT APPROVED FROM THE INSURANCE COMPANY FOR STRENSIQ™!

Thank you Lord, Thank you Lord, Thank you Lord! Now that I’m in the tail end of my life, I’m just thankful I was able to see this treatment for my baby girl! I love you more than you ever know and I would give my life for any of my children. You are all what I live for everyday! Thank you for the beautiful message, it was all worth every second of everyday and I wouldn’t change any of it. It’s so important to let our loved ones know how much we care, how thankful we are for our days together. I really appreciate the message and angel globe that plays “The Wing Beneath my Wings.” However, I always sang these songs to you because you were the wind beneath my wings, you gave me the strength, along with my faith to push forward to find a cure or treatment for HPP. It’s here, it’s now, it’s STRENSIQ! Thanks to the founder of Soft Bones Deborah Nettune Sittig,  Alexion Pharmaceuticals, and all my fellow board members, and clinical trial recipients. Also, thanks to all my family and friends who know the journey we went through to get to this point in life. We love you all to the moon and back! We would not be here to this point with HPP without a village of people helping! I love you all! Pearly, you’re my world. Thank you for the heartfelt message in my card and yes the little girl has been me since I was little and my girls have inherited my personality. Here’s to strong women! I love my globe too! Thanks for making me cry the happiest tears ever! Love you PG! Let’s keep this journey of celebration with HPP rolling!