Monday, October 30, 2017

HPP Awareness Week: Attention Needed for Rare Bone Disease


Hypophosphatasia (HPP) is a rare bone disease that affects children and adults and there is a great need for awareness, policy, research and treatment. Danielle Bither has three children were diagnosed with varying degrees of the disease.


National City, CA mom Danielle Bither is on a mission for much-needed awareness, education, research and treatment for a rare bone disease called Hypophosphatasia (HPP) -- pronounced high-poe-fos-fuh-TAY-shuh.

Today, October 30, 2017, is the start of HPP Awareness Week and I am sharing Danielle's story to encourage and inspire others to act against this terrible disease that requires some much attention and action.

HPP is a rare inherited bone disease that affects healthy development of bones and teeth, making bones softer and more likely to fracture. People who have HPP have trouble making an enzyme called alkaline phosphatase, or ALP. 

Without this important ALP enzyme, certain chemicals build-up and prevent calcium and phosphorus from binding together and depositing in the bones. As a result, bones can become soft, curved and fragile, and teeth may become loose or fall out prematurely. Severe forms of HPP occur in approximately one of every 100,000 live births. While exact numbers are unknown, the milder childhood and adult forms are probably more common, and one out of every 200 Americans may be a carrier for HPP.


The Bither family
Danielle's daughter Clara was diagnosed in December 2011 with infantile HPP. Her brother, Merle, when he was just two years old, was diagnosed with odontal HPP.  Their sister Stella was diagnosed with infantile HPP shortly after her birth in April 2013 and passed away in December 2013.

While Clara seemed like a happy healthy baby in the months following her birth, Danielle struggled to help her gain weight and at 6 months-old she weighed just 11 pounds — only 3 pounds heavier then when she was born even after switching from breast milk to formula at the insistence of her pediatrician. Then in June, her fontanelle began bulging. After meeting with several specialists, Clara's parents were told that she had craniosynostosis and would need surgery to fix the problem. After the surgery, the doctors said that Clara was facing another health issue and were not sure what it was but put her on a waiting list to be seen by a geneticist at a local Children’s Hospital. Shortly after medical insurance changed for Danielle and her family, they were devastated to have to leave all the doctors that were treating Clara, yet little did they know this move would save Clara’s life. 

There are no words to explain Danielle's grief and fear for HPP. However, she know the importance of arming oneself with information and resources, and support to help through the tough times. To give her children a fighting chance against HPP, she has shared her story to help raise the much-needed attention it deserves. 

Danielle was fortunate to find comfort and solace with other families who understood her new normal through a patient advocacy group started by another mom whose child also had HPP. The patient advocacy group is called Soft Bones: The Hypophosphatasia Foundation. It just so happens that one of my bosses, Deborah Fowler, is the founder. I shared about Deb's experience a while back on my blog. Here is her story that helped lead to greater awareness, new research and treatment for HPP.

Today Clara and Merle are bright and happy children who are thriving. 

HPP has a growing community of parents of children with the disease and adults diagnosed as well. You are not alone. Together, we have seen profound changes in policy, research and treatment. In fact, a first-ever treatment has since been approved. There is such a great need for more as patients with HPP all have varying degrees of severity.

Please join me during HPP Awareness Week kicking off next week to help elevate attention for this rare, brittle bone disease. I appreciate your support.



Tuesday, October 24, 2017

Mommies and Mammograms

Fellow moms, grandmothers, aunts, sisters and girlfriends, it's Breast Cancer Awareness Month and the time is now, if you haven't already, to get an annual mammogram.

For those of us especially over the age of 40 and who have a family history waiting is not an option.  

My biggest risk factor is my age. My paternal grandmother also had breast cancer later in her life.

For me, I also have fibrocystic breasts, which are more evident during my monthly menstrual cycle. Therefore, it is challenging to determine if it's more than just that. Therefore, I pay close attention to them and when my cycle ends usually the symptoms in my breasts do too.

There are too many women in my life and in this world who have been impacted by breast cancer. Young women in their 20s, moms in their 30s, working women in their 40s and grandmothers in their 50s and up. 

Let's take action for our health.


The National Breast Cancer Foundation is offering a complete Breast Health Guide, which includes common questions on prevention, detection, healthy habits, and more. 

I took action and got my mammogram this past week. Thank you South Jersey Radiology Women's Center. Now, I am encouraging you to do so as well. Let's help all our fellow ladies stand against this terrible disease.

There are many ways that we can get involved in this fight.
  1. Act and do self breast exams and get an annual mammogram
  2. Encourage loved ones to do self breast exams and get annual mammograms 
    • Book appointments together for support
  3. Donate to support research for this important cause
  4. Get involved 

Mommy's Point of View has made a tax-deductible contribution to the Breast Cancer Alliance to fund innovative breast cancer research and to promote breast health through education and outreach, and breast surgical fellowships.




Friday, October 20, 2017

Bake and Post Online for Breast Cancer Research

Black Bottom Cupcakes
Made by Caren and Sarah
On Saturday, I will be getting my annual mammogram. I have had my prescription since May this year and don’t know why I waited so long to set up the appointment.

What the heck was I waiting for? Do I think it can’t happen to me? Am I afraid? Am I just too lazy? I really don’t know.

Being in my mid-40's I am just as much at risk for breast cancer as anyone. A dear friend of mine just told me recently that she had a lumpectomy that led to the removal of a benign growth. A family member is coping with breast cancer, and another is in remission from her second bought with the disease.

There is something to be said for all the awareness and education that happens especially during the month of October for breast cancer. I am truly thankful, as it has kicked me in the ass and pushed me to finally book my overdue appointment.

To do my part, I am standing up to encourage you my fellow readers, moms, grandmothers, sisters, aunts and girlfriends, especially for those of us over the age of 40, to get our breasts examined. Check your calendar, confirm when you had your last mammogram, call your gynecologist to set up an appointment, and get a prescription to get screened.

Recently, I learned of an innovative fundraising campaign called "Bake It Happen" that was started by two sisters Shari and Stacy, who lost their mom who loved to bake, Judy Levin, to Metastatic Breast Cancer (MBC).

As a mom who loves to bake, and a public relations professional dedicated to healthcare education, my interest was piqued.

Judy’s daughters decided five years ago to kick off #BakeitHappen, and have since raised over $60,000 for breast cancer research. The campaign has grown to include strategic partners including The Cancer Couch Foundation, Taste Buds Kitchen, Sweet Loren’s, and Ford Warriors in Pink.

Their mission -- encouraging people to bake one of their mom’s recipes and to do so for a worthy cause. 

How does the baking raise money? 

Choose one of Judy’s original recipes including Banana Chocolate Chip Loaf, Pumpkin Oatmeal Chip Cookies, Black Bottom Cupcakes or Compost Cookies.

After making a tasty treat, post the pics on social media. Then, an anonymous donor will make a financial donation, with 100% of the proceeds going directly to The Cancer Couch Foundation.

So, we got our aprons on and got to baking.  Together with my daughter, who enjoys baking as well and supporting noble causes, we chose to make the Black Bottom Cupcakes.  Not only was this a fun thing to do, but it was even more fun doing it as a team for a greater purpose.

After the baking is complete, post your delicious treats on social media and include the hashtag #BakeitHappen. For Facebook, also add the tag @ubakeithappen. For Instagram, also add the tag @bakeithappen00. If you are not on social media, no worries. You can still participate by emailing your photo of your baked creation to ubakeithappen@gmail.com.

For more information about the Bake It Happen campaign, visit their website at http://www.bakeithappen.net   

Full disclosure: Please know, I was not compensated in any form for this post. I am honored to share the effort and purpose of Bake It Happen with you. Please help join in the fight to end breast cancer.