Kaleb's 19th birthday is today...still coming to grips with the fact that I no longer have a child...but a young adult. He has overcome more in his 19 years than most will in a lifetime...but it has made him a very strong person. Many times, he is MY anchor. He is grounded, intelligent, inspirational...and does not let his physical disabilities get in his way. He has had a lot of great experiences in his 19 years, including travelling to Costa Rica and spending two weeks exploring areas I only dream of seeing, presenting his 'life story' in front of a drug company working to find a solution to our bone disease, osteopetrosis, showing them that there is hope...and despite what this disease does to our body...our spirit can still thrive. 

Kaleb went to the ocean in September for the first time...became a 5 time medal winner at the state competitions in track.....went skiing last weekend and has his next goal of skydiving.

Sorry for the brag post but I have to share with someone..how much in awe I am of this young man. If I die tomorrow, my life was good..because I was Kaleb's mom.

Happy November everyone!

Excited to share that in October, we were able to participate in the First Annual OsteoPETrosis Symposium, held in Philadelphia.  It was a great experience for my family and I believe, all that attended :)  We met many other families who have been affected by this disease and were each very touched by their stories of overcoming.  I hate that we have this ugly disease to deal with but I have to say, it has allowed me to meet some of the strongest people I know.  Nothing is insurmountable for them.  They truly, truly embellish what it means to overcome.

We had three doctors attend the patient symposium.  They were there to give us an update on research, as well as answer questions from families.  It was great, for once, to feel like our disease was IMPORTANT to someone, let alone an entire room of people who cared and 'got it'.

Hopefully, by the next symposium, we will have a non-profit established to provide support for families, help fund research efforts to eventually lead to a cure for ALL forms of this disease.  Our form, ADO II, may be considered 'benign' and 'asymptomatic' in many publications but I promise if you sit and listen to my family's history with this asymptomatic disease,  you will quickly see that unfortunately, that is not always the case.

Kaleb was a very lucky young man on September 16.  He was a passenger in a vehicle that rolled.  By the grace of God and a couple angels protecting him, he did not receive one broken bone.  Miraculous.  And now...a very, very thankful mom and dad.  For a boy who fractured two vertebrae and his pelvis, unbeknownst to all of us...we're amazed that he was able to walk away (well....wheel away), with only minor injuries.

Here's to a great remainder of 2013.  Sending healthy thoughts to each and every one of you.

Great year!!!! Enjoying the summer of 2013.

What a great year.  No other way to say it than...no major health issues....and lots of great accomplishments.  Kaleb became a all state triathlete in shot put, the 100meter and 400 meter wheelchair competitions.  He was able to go to Washington, DC in May to honor his uncle, a fallen police office from Alexandria, Virginia which was a trip of a lifetime.  And then in July, went for a 10 day trip to Costa Rica with his friend to visit his uncle, Nick.  Doesn't get much better than this!

Kaleb currently has his driving permit (no special adaptations needed).  He has taken the classes and is doing the driving portion now with the instructor.  Before we know it, he will be a full-fledged driver. 

So proud of this young man.  Despite the obstacles that OsteoPETrosis can bring,  he is an overcomer. I think of him every time I hear the new song by Mandisa (http://www.klove.com/music/artists/mandisa/songs/overcomer-lyrics.aspx).

We are excited to be planning our attendance at the first ever Patient Symposium in Philadelphia for those who suffer from all forms of OsteoPETrosis.  There is a doctor session the next day which I am so excited about to know that over 10 doctors will be gathering to discuss this horrible disease.  Cannot wait to get to meet people that I have 'known' for years on the internet...and finally see them in person.

Hugs to all those who suffer from OsteoPETrosis or know those that do  Prayers that one day we will have answers. Until then...carry on....and reach out to https://www.facebook.com/groups/osteopetrosis/

~Lori

Another dilemma, another dose of faith

I recently posted about visiting the Metabolic Bone Disease Clinic at Children's Hospital in Columbus.  I have to say, I wondered if it would do us any good as we've learned that there are not a lot of 'treatments' for OsteoPETrosis.  You just learn to deal with what it hands you.

From that meeting, they scheduled a meeting with a new neurosurgeon at OSU.  We went to the visit and really liked the doctor.  He ordered an MRI/Catscan to get a base line for the size of the optic canals (which we had to have surgery on in the past to widen).  We received the results last week and the good news is that the canals are of good, stable size.  The bad news is that they found a 7 mm colloid cyst in the 3rd ventricle of Kaleb's brain.  This was the first meeting with a neurosurgeon that I did not attend because we thought it was a 'routine' visit, not expecting anything major.  

Since the meeting, we've scheduled a consultation with the neurosurgeon who performed the optic canal decompressions.  He is retiring on April 25 so I have to believe that God's hand is at work, getting us in to receive his opinion before he retires.

We are concerned about the cyst and await the news from the appointment on Tuesday.  Praying that God is with Kaleb during this latest trial and that the outcome is better than our expectations.

Lori

Sixteen years later....

I can remember the feeling all too well…the tightening in your chest….the rapid breathing…the feelings of your body trying to make sense of what the doctor just said, “Your son has osteopetrosis.” At first, I was bewildered. Then I was scared. At one point I was one very angry woman. I was confused. I felt hopeless. All alone to deal with these horrible words and I felt lost.

This didn’t make sense to me. Yes, my family had a history of broken bones. That is the extent to what I knew about it. Nothing major. Put a cast on. It heals. Take it off and go on your way. So, why was I being told this by a pediatric ophthalmologist? This didn’t make any sense. It affects the eyes? No way.

When I started my quest for learning about OsteoPETrosis, my 'baby' was quite small. We learned that he had the disease when he was 2 1/2 years old. He's now a SIXTEEN year old young man. Wow...where did the time go?

Over the years, my toddler become a boy who learned to run, jump, play, develop friendships, become a history buff, become a semi-entrepreneur selling his goods every summer weekend at flea markets, develop respect and appreciation for authority and truly become a son I only once dreamed that he would become. Kaleb can intrigue the oldest and youngest in the crowd. Once a conversation has been had with Kaleb, many people are amazed, inspired and very thankful that they were part of that conversation. I've witnessed many highly educated individuals walk away in 'amazement' at the knowledge stuffed in that head of his!

We've also unfortunately spent a lot of that time sitting in doctor's office, undergoing procedures including MRIs, catscan, xrays, sitting with researchers, attending benefit dinners, breaking vertebraes in the back and breaking the pelvis in two, getting casts/splints/braces/wheelchairs, learning the ropes of being wheelchair dependent, undergoing surgeries including optic canal decompressions via craniotomy, reaching out to other families and sharing each of our knowledge re: OP and trying to provide comfort to relieve the pain from the effects of a horrible disease.

Over the years I have heard things like "don't let this disease control him", "make sure he still has a life", "he is stronger than this disease", etc, etc., etc. What I want to say in response is you are right, the disease SHOULD not control him, he DOES still have a life (just different than we expected) and he IS the strongest person I know.  Bone pain is not seen.  Bone grinding is not seen.  The reshaping of the ball of the hip is not seen.  What I see instead is a determined young man who will not stop.  I am so proud to be his mom.

Lori

Metabolic Bone Disease Clinic

Thankfully, we were connected to the Metabolic Bone Disease clinic at Children's in Columbus.  We had a consultation yesterday with 2 doctors from the clinic who were great.  They asked the right questions but prior to our visit had made it known that they had not seen many patients with Osteopetrosis.  The great news is that they are willing to take Kaleb's case and manage his care.  Brings a huge smile to all our faces.

We are scheduled to meet with an orthopedic surgeon to discuss Kaleb's scoliosis.  He has fractured his L4 and L5 previously so we hope to learn how much is related to the fractures and how much related to the OP.  We need to ensure that the scoliosis is not affecting his lungs/heart.  We had a blood test and a urine test.  We'll be having a kidney ultrasound as well as a consultation with a eew neurosurgeon.  We're scared to be starting the next generation of Kaleb's medical team but hopeful that it will result in nothing but good.

November 8, only 6 days from now, marks 6 years that Kaleb has now been in a wheelchair.  Remember, this is the same child who ran and jumped and did everything a physically healthy 8 year old boy would do....and he has now spent 6 years in a wheelchair, not due to an accident but a rare bone disease, osteoPETrosis. 

I know that we must go on....and accept the our normal...which I feel that we do very well.  But let me tell you that as a parent...it is truly heartwrenching.  That is the best word I can use to describe our experience with Osteopetrosis.  God bless all those that suffer from this rare, unknown disease. Since it's a rare disease, there is little research because a cure would only affect a few...not millions.  I pray that the day comes when a cure is found for this rare disease.

The trials of 2011

2011 is winding down and I cannot believe this is the first post I’ve made all year! I guess that says a lot in itself, that our lives have been a little hectic.

Kaleb is now back in school, his sophomore year! He is developing into a young man that any mother would be very proud of and I am no exception. I could not ask for a better son and feel very blessed to have him in my life.

2011 has been filled with the deaths of many loved ones, starting in January with my dad’s death as a result of a broken neck in a car accident. My dad had suffered for many, many years from Osteopetrosis but did not complain one bit. He was 62 years old at the time of his death and had suffered from so many broken bones I cannot even begin to recount. The last 10 years of his life, osteomyelitis had become his unwanted companion and it caused him so much pain. He had gone to a world renowned hospital to have them examine his teeth and they decided to pull all the teeth and replace with dentures. Due to the disease, he was left with jagged fragments of teeth throughout his mouth and a mouth full of infection. No one would then begin to touch his mouth, as they didn’t know what to do with the mess that was left. And so, he was left to deal with osteomyelitis until the end of his life.

My heart hurts that he is no longer with us but each day that I begin to grieve for him, I realize that all the pain he suffered for all those years is now gone. He is now pain free for the first time and that brings me a lot of comfort.

At the time of dad’s death, we wanted to try to donate his body for research (specifically for Osteopetrosis). Due to the unexpected nature of his death, we were not able to donate dad’s body but since his death I have found that individuals can arrange to have their body donated to Indiana University Anatomical Education Program (http://anatomy.iupui.edu/anatomical-education/anatomical-education-faq/). I have filled out my form and have notified my family that at the time of my death, this is my ultimate wish. If it will help them learn about Osteopetrosis and prevent others from suffering as my family has, nothing could make me happier.

We are once again in search of doctors who treat Osteopetrosis. Kaleb’s neurosurgeon who has treated Kaleb since he was 2 is no longer practicing. He was our ‘go-to’ doctor who helped us immensely. If we needed a test scheduled, it was only a phone call away. Very sad to lose such a great asset on Kaleb’s medical team.

Also, one of the lead researchers, Dr. Key, retired 2 years ago. He led the clinic in South Carolina where we spent many of our ‘vacations’ undergoing 3 full days of testing. It breaks my heart that his knowledge, caring and expertise is no longer available to patients with Osteopetrosis.

So, we’re kind of feeling like we are a fish out of water again….with no one with the appropriate knowledge or desire leading Kaleb’s care. Praying that a new doctor appears soon with the interest needed to help us solve this horrible disease.