2016 HPP Awareness Day

October 30 is #HPPawarenessday. What does this mean for you?

For some, it means nothing other than being more aware of this rare bone disease. And maybe realizing that person who is a little short, walks a little funny or looks a little different might be suffering from HPP or another disease. Or maybe if you are feeling like making a difference - it means making a $1 donation at www.SoftBones.org

For families like ours with HPP - we proclaim our mission to find a cure. We have a treatment which is a huge stride, but we need more scientists studying HPP to better understand the role of ALP be in the body. We need physicians to listen and care about learning about HPP and how the textbook ways they learned to treat patients may not apply. We need more studies to better understand HPP in adults -- and to justify that the pain is real -- and not something we are making up in our heads.

83.3 - our rally cry for the world - the International Statistical Classification of Diseases and Related Health Problems (ICD), a medical classification list by the World Health Organization (WHO) - that means #hypophosphatasia. We have a number dedicated to our disease at last - now it's time to put that number in the history books.

There are so many #HPPHeroes out there who are fighting along with us. Today we cheer them on in their quest to make a difference.

Let's put Soft Bones out of business!

Rare Disease Day 2016 - Fighting the HPP Battle

One of the things you get used to having a child with a rare disease is the constant feeling that you are on a rollercoaster. One day, you are on top of the world. Then suddenly, your stomach drops and you're in freefall, fearing the worst, when you are scooped back up safely. Only then can you manage to smile.

On this Rare Disease Day - we have a reason to celebrate. We are safe in our rollercoaster, seatbelts buckled, grinning ear to ear as we have conquered a big drop. We are on the heels of FDA approval, and just this past week, visited Pittsburgh Children's Hospital for the final time, transitioning from an investigative drug to a commercially available therapy. We are incredibly grateful thinking about what this means for hypophosphatasia and patients like Cannon. 

Five years ago, it was a different story. We were freefalling. Concerned parents bringing our 4 year old son to Pittsburgh, trusting that the doctors would take care of him, hoping that an experimental medicine would make Cannon stronger, and praying for a miracle. The thought of subjecting a happy little boy to injections of an untested, unknown, foreign substance about killed me, but it was the right thing to do. We were desperate and willing to do anything to help our son and other HPP patients. To not participate contradicted everything we had been fighting for. But we couldn't ignore that nagging feeling of fear ever present in the back of our minds, and we tortured ourselves wondering, what if?

Five years later, it feels surreal. We conclude this chapter in our lives. We watched Cannon improve right before our eyes. We remember his cute little scoot, when he couldn't walk or even walk. We watched him pulled in the wagon during the Halloween Parades at school. I remember feeling filled with joy watching him walk for the first time with his green walker and his backpack as he proudly walked to school. Now, with the help of his drug, he has since played lacrosse, basketball and golf. He had fallen off the growth charts succumbing to HPP. Today he continues to show progress, registering in the 25th percentile for height. His initial long jump was a mere 3 inches, today, we registered at almost 3 feet.

Today we have our final round of tests, pupil dilation for ophthalmology, kidney ultrasounds, skeletal xrays, bloodwork, physical therapy endurance tests and more. After 15 visits, the doctors, nurses and study coordinators have become like family, watching Cannon transform from a boy who couldn't walk to a child we can't stop from running. 

However, as we make our rounds, I can't help but notice the look on the other parents' faces, that confused, scared look of suspecting something is wrong, but not knowing what, or worse, finding out that something is.

We are fortunate to be able to leave this hospital. There are some that may never leave and others whose lives will never be the same. As parents of children with a rare disease, Rare Disease Day gives us the platform to share our stories and realize we are not alone. This year, we celebrate the successes we have seen in our fight against HPP. We see other children have access to therapy and see them getting stronger. We feel like we are making a difference because now, when we tell people Cannon has hypophosphatasia, they say, "Oh yeah, I've heard of that!"

It has a blessing to have been on this journey with Cannon. While we were in the waiting room with a room full of children and their parents, Cannon just said to me, "Hey mom, did you see how cool that kid's wheelchair is?" and I realize the incredible lesson we have learned - one that you just can't teach in school. It hasn't all been easy. We have been brought to our knees -- but have also witnessed miracles. We have gazed at the world through a lens that has completely changed our perspective on life. We find happiness in the small things, joy in simplicity and hope in the darkest of moments.

I want to thank all of the incredible people that have helped us throughout the years. Nadene, Danielle, Dr. Vockley and Chris.. just to name a few... words cannot express our gratitude and we can't thank you enough. Hope you all celebrate on this Rare Disease Day, for your work has made a huge impact in the lives of patents with HPP. Thank you.

Diagnosis: DRESS

The past few weeks have been a terrible nightmare. But finally, we are getting some answers after so much uncertainty, fear and anxiety.

After battling bacterial staph meningitis and possibly a tinge of chemical meningitis, the latest high fever and rash have been diagnosed as DRESS - otherwise known as Drug Rash with Eosinophilia and Systemic Symptoms. The actual medical definition is: 

Drug hypersensitivity syndrome is sometimes also called Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS), and Drug-Induced Hypersensitivity Syndrome (DIHS). Drug hypersensitivity syndrome is a severe, unexpected reaction to a medicine(s), which affects several organ systems at the same time. It most commonly causes the combination of a high fever, a morbilliform skin rash and inflammation of one or more internal organs including the liver, kidneys, lungs and/or heart. It generally starts two to eight weeks after taking the responsible medicine.

In a nutshell, doctors think he has a penicillin sensitivity and now we wear the band to let all the health team know about it. We are so grateful that we were here when this all happened. The rash continued to spread, worsening from we posted in the other photos. We switched antibiotics and now finish our 21 day course tomorrow when we will hopefully (fingers crossed) have our PICC line removed and be transitioned onto oral medications. 

We still have a road ahead of us. Blood tests weekly for at least a month, follow up appointments and CHOP and steroids for at least several weeks, perhaps months, sedation to have his stitches removed. I can't even believe how fortunate we are to have been in CHOP with doctors who knew what they were looking for, took quick action and we caught this before what could have been pretty devastating consequences. We are well aware that all your prayers protected him (and us) from some very scary things. 

Today, we were moved to a step-down unit where we have our own room and we were so thankful to eat in the cafeteria! He has been asking for this for a while now and today he got his wish.

Steroids are in full force now that we have moved from IV form to pills, and have kicked in both in attitude and appetite. For dinner he had a chicken and cheese sandwich with - what else but BACON - (we are trying to ignore the latest health reports for a little while), a noodle bowl, two drinks, a bag of Cool Ranch Doritos and two Italian Ices. I can't even believe how hungry this kid is.

And with a lot of coaxing, we have been able to get him to drink bone broth, take vitamins to promote healing. He hates it. But even does it with a smile. 

That's the smile that keeps us going. We are so proud of our little fighter and his unrelenting spirit. We are beyond thankful for the continued prayers, meals, calls, texts, posts from friends, family and complete strangers. Thank you everyone for doing so much! We are eternally grateful. <3

Genius bar, anyone?

So we are getting cheeky in our 1+ month stay at CHOP. 

We've definitely had our share of ups and downs. The experts (Infectious disease, dermatology and neurology) highly suspect the rash and associated fever to be an allergic reaction to an antibiotic. Which antibiotic, we aren't quite sure because it seems to be a delayed reaction and he has been on 4 different antibiotics. Bloodwork and CSF fluid cultures point to it as well, which is actually not the worst thing so we are hopeful we can keep the rash under control. He is under tight watch here in the ICU in the meantime. It seems to flare up, and then settle down with the steroids. The hope is we will get this under control soon and can go home this week.

 He is getting a little sick of the solo pics him so he wanted both of us today.

In the meantime, he's back to his jokes and shenanigans. The good ol' fashioned whoopie cushion now has an "app" so he's been having fun with the nurses and getting stern talks by mom on a regular basis. 

He has been spending a lot of time online trying to catch up on school work (1%), playing Minecraft (94%) and Facetiming friends (5%). As such, we thought after all we have been through, we would get him a computer, with a promise he will spend more time doing schoolwork. So a few weeks ago we got him a Mac. 

Fast forward to yesterday, when they were still ruling out causes of the rash and decided to do a strep throat culture, 10 minutes after breakfast. Probably not the best time to do a throat swab. Without going into graphic details, Cannon's gag reflex kicked into full gear and he threw up all over his brand new computer. 

It is not working now.

So now the world has ended because there is "nothing to do". 

Now, we are doing boring stuff like playing cards, Dominoes... even talking to each other. Ugh! This stinks!

Hard to believe it's November already. Hoping we can turn the corner with all of this and get back to normal soon. Normal never felt so good.

HPP Awareness Day

I sit here in the ICU at CHOP and I look at this beautiful boy, who did nothing to deserve anything that has come his way.  He has been dealt the hand of hypophosphatasia, a disease  I could hardly say at the time of his diagnosis, let alone spell. He was diagnosed here at Children's Hospital of Philadelphia in the Diagnostic Center and today - nearly 10 years later - we deal with complications related to his disease. This rash is our latest concern and we are trying to figure out what could be causing it. (btw Cannon was ok with me posting this picture because it's HPP awareness day and he wants to help spread the word)

Hypophosphatasia - or HPP - has opened up a whole new world to us - a world so complicated yet beautiful, filled with sadness and hope, fear and triumph, pain and peace, anger and joy. 

Today, I am angry at HPP. We suspect his Chiari malformation was caused by craniosynostosis, which is directly related to HPP. He had his surgery and now endures these horrific complications with his surgery including repeat surgeries, staph meningitis, and now some kind of a rash that we are trying to determine a root cause. Through it all, he somehow manages to smile, laugh and tell me he loves me out of the blue. He's a true HPP Hero. And my anger turns to hope for his future to know what great things this boy will accomplish in his life. 

I look online today at how our HPP community is celebrating. We are celebrating the fact that researchers are taking time to care about an ultra rare disease. We celebrate the week anniversary of the first-ever approval of a drug that has changed lives of patients living with HPP and has given many families so much hope after living their lives with none. We celebrate our beautiful children and patients that demonstrate courage that can't be described any other way than awesome. The smiles on children's faces as they tap into their inner superhero strength. They are the real heroes in this HPP Gotham City. I hope you will check out our  public Soft Bones Facebook page or visit our website www.SoftBones.org or even build your own superhero with this superhero builder that is a fun way to raise awareness of HPP www.EveryDayWithHPP.com

So many of you have read this blog and it makes my heart happy to think that I've been able to reach a few people and to make them aware of HPP. That little piece of knowledge can transform lives. That awareness could lead someone to diagnosis -- or inspire new research -- or could spur someone make a donation that funds a grant or a valuable program that makes a huge difference in the lives of these patients. 

A few important things I hope everyone will share:

• Early tooth loss of baby teeth is a telltale sign of HPP. Have a friend or know someone who is dealing with this - please encourage them to see an endocrinologist.
• Pay attention to your blood test. ALP (Alkaline Phosphatase) is a standard measurement on any regular blood panel. My whole life, it has come up flagged as low and no one ever mentioned or paid attention to it. Now I know it's because I'm a carrier. 
• Know someone with osteoporosis that isn't responding to their meds? Check their ALP level. It might be HPP.
• Know someone who keeps fracturing for no known reason or takes a long time to heal? Check that ALP level. It could be HPP.
• Just post that you know someone with HPP and they can learn more by checking out SoftBones.org.

Prayers work - and I hope you will say a little one for us. We would like to put this behind us and get back on the lacrosse field very soon. Happy Friday and Happy HPP Awareness Day!

No news is good... and bad news

Sorry for the delay in an update - we have been taking it day by day.

The good news is that were discharged from CHOP yesterday. The doctors were pleased with the labs and looked like we were headed in the right direction. Cannon's incision is looking like it is healing well. Praise God!

But then... no sooner did we get home that Cannon started to get a fever. So back to the ER we went today (Morristown) for more labs. Luckily things looked ok - so the doctors are puzzled about what might be causing his fevers. It has been a very big challenge for me to distinguish between meningitis symptoms and his post surgery symptoms (fever, stiff neck). They both exhibit the same kinds of clinical symptom so I have kept calling CHOP's docs on call every day to get guidance.

Looks like we are headed back to CHOP tomorrow as an outpatient so that they can keep close watch on him to ensure we aren't dealing with another infection.

In the meantime, we have a crazy schedule trying to balance kids schedules, work and then the medical schedule he is on. He still has his PICC line and he has to get his antibiotic 4 times a day - 6am, noon, 6pm and midnight. The medicine has to sit out at room temp for an hour before dosing and takes about 35-40 minutes to administer which has wreaked havoc on any kind of sleep schedule.

I felt compelled to update everyone on this news in case anyone is wondering why we dropped off the radar. Thank you again for all of your continued thoughts and prayers. We really could use them.

Angels in disguise

While there is a lot of down time at the hospital, we also have our fair share of action as well. Yesterday afternoon and evening were one of those times.

First of all we had some visits from our favorite doctors - the neurosurgery team at CHOP. I call them real life heroes and I mean it. Dr. Heuer, who performed Cannon's surgery, is amazing. He has such a tremendous gift, and is humble through and through. This man does surgery on unborn babies, repairing spinal bifida. And talk about bedside manner, the nurse told me that he french braids little girls hair after doing surgery. Here is pictured with Dr. Hoelscher, another awesome doc here at CHOP.

 World Class Brain Surgeons, Dr. Greg Heuer and Dr. Christian Hoelscher

Another angel - is this man, Ari. 

Our new friend, Ari Miller from 1732 Meats 

This is a complete stranger who heard about Cannon after our friend, Chaz Godwin Ross, frantically called around Philadelphia looking for someone to deliver bacon to the hospital. During her research she learned that Philly is arguably the bacon capital of the world. By fate, she happened to reach Ari Miller. Ari, mind you, doesn't have a restaurant, isn't even a retailer, but a wonderful person who shares a love of bacon. Turns out that he's former banker and attorney who left the rat race to pursue his passion for food, specifically making gourmet cured meats, specializing in none else but bacon! Here's a little about him on his website. http://www.1732meats.com

Now, it would have been one thing to just send over some bacon. But Ari went a step further. He went home from work, and he himself cooked three kinds of bacon - smoked paprika, roasted garlic and black pepper. His daughters even decorated the bags. He drove to the hospital and came up to our room and delivered the bacon himself. And that wasn't all, he also brought t-shirts, stickers and a cooler filled with ice and - you guessed it - pounds of bacon! He has made lifelong customers and friends. Next time we are going to go to his plant to learn more about his trade. I hope everyone will take a moment to check out his website - he ships bacon and also is available in some stores (like Forager Market in New York City, etc.)

Hoping today is a better day and one day closer to bringing home the bacon!