Going Nuclear

Holy, Holy...

I am bleary eyed and staring. Today we were hit with bad news: Zoe likely has a very rare, very serious bone disease.

Osteopetrosis.

I want you to know that we have not Googled this diagnosis. We don't dare. It's too new, too scary for us to even want to know the extent of what this could mean.

So please, if you look it up--for now, don't let us know what you know about it.

But certainly let us know that you are thinking of us.

Anyway---

A C.T. scan for Zoe this morning that was supposed to give us more information about why her soft spot has been bulging led our doctor to initially believe that she had craniosynostosis--a fusing of the cranial sutures.

But.

Although he -- Dr. Michael Cunningham -- is an expert in craniosynostosis and has dealt with many babies that have it, Zoe's case was not straight forward. She has optical nerve atrophy, the CT scan showed an abnormally thick bone structure in her skull, she has hypotonicity. Normally these other things do not show up in a cut and dry case of craniosynostosis.

So, he wanted to do some more research, talk to some more experts.

The phone call a few hours ago from him carried the staggering news that she may very well have this incredibly rare bone disease. He said he struggled with whether to tell us the direction he's going when he's not 100% certain yet that this is the diagnosis. But, as he is fairly certain given the markers--and he felt that telling us was more humane than simply telling us that he was sending us to Fred Hutchinson for more diagnostics.

Does she have cancer, I asked? No, he said, this is the opposite of cancer.

What I do understand about osteopetrosis is that it is a disorder involving the bones not being able to check their own growth.

Within our bones there are osteoblasts that create bone, and osteoclasts that reabsorb bone. With osteopetrosis there are no osteoclasts that reabsorb, so the bone grows unchecked.

It's progressive, and it will kill her if not treated.

Treatment is basically a bone marrow transplant.

Again, it's not 100% certain that this is what's going on with her. Dr. Cunningham has calls out to the person who is the expert in the country in osteopetrosis so that they can examine her blood sample that was taken today.

So much more will be learned in the days and weeks to come.

But, what we know for now:

• Zoe will need skull surgery to relieve the pressure on her brain.
  
  
• The surgeons will confer with the chief of ophthalmology and neurology at Children's Hospital to see if it makes sense to widen her optical nerve canals to relieve the bone pressure on the nerves so as to possibly create an opportunity for vision reclamation.
  
  
• Fred Hutch is world reknown for bone marrow transplants--this is the city to live in if one is needed. People come from all over the world to get BMT's here.

• Osteopetrosis is so rare that Fred Hutch has only ever performed two BMT's to treat the disease.

• We didn't ask if they were successful.

We need your love and support more than ever.

This blog is intended to provide updates--it just doesn't make sense to have to make many phone calls and write many emails with every bit of news.

Despite all this crazy, terrible, frightening news--Zoe seems so normal, so fabulous. Well, aside from the weird bumps on her head and her lack of vision and her delayed gross motor skills--But! She's so social and sweet and funny and mischievious.

She has vitality in spades.

Call, email, stop by--we need it all. And, if it's a bad time, we will let you know too.

Kellie