Please read

I want to share some things with you all. I hope that you will read this blog post all the way through despite that it is going to be a long one. It will most likely not be very easy to read, but I want you to keep in mind that there are those who cannot just close this website and make it all go away.

I want yourself to imagine that you are a new parent, your precious little baby is just 6 months old.  Your baby hasn't been hitting its milestones on time and your Dr wants to run a few tests. You are sitting in a room at the Dr's office, cuddling, cooing and playing with your precious baby waiting for the Dr to come in to tell you that the tests came back fine, that some children just take longer than others to reach their milestones.

The door slowly opens and the Dr comes in. He won't look at you or your child. He is nervously shifting his weight from foot to foot, playing with  pen in his hand. It seems that he is doing everything he can to avoid looking at you. He finally sits down with a deep sigh. Lifting his head he looks at you and to your horror there are tears in his eyes.

"I've never had to do this before." he says softly and your heart begins to race, your palms sweat.  Oh my God, you think. What could be so bad?

"The tests have revealed that your child has Canavan disease."

"What's that?" you ask fear making your voice small and weak.

"Canavan Disease is a rare fatal genetic neurological disorder that deteriorates the white matter (myelin) in the brain. White matter is responsible for forming a protective coating around every nerve in the brain and spinal cord to ensure that nerve impulses are properly transmitted from one part of the body to another. Without myelin, the body cannot perform normal motor skills, can become increasingly stiff or floppy and suffers a multitude of symptoms including issues with swallowing, severe scoliosis and hip dislocations. I don't know how to tell you this, but the skills that your child has acquired they will lose. Eventually your child will become trapped in their bodies, develop seizures, lose their ability to see and swallow, and die in the first decade of life. I am so sorry."

"Treatment?" you eek out.

"There is none."..................................

If you are just imagining this scenario then you are one of the lucky ones. This is sadly the reality for parents of child with Canavan.  Their beautiful, wiggly, giggly, cuddly baby will never be able to say I love you.....never be able to hug them.......never be able to kiss them....never mind no dating, graduation, driving, or any other kind of milestone that goes along the transition to adulthood. The hopes and dreams they had for their children are dashed, changed instead to justs hopes and dreams of their children living.

Can you imgaine worrying constantly that the next cold your child gets might kill them. Can you imagine constantly being haunted by the thoughts of your child's death.....it's not something you can get away from.  Every waking moment, every dream when you sleep is how can I save my child? Can you imagine living with that?

This is the reality that many of my friends live with.......their children are dying........my daughter may be dying.

This is Amber Rose. Her short life was cut short by Canavan.  She passed away just a few months short of her 8th birth day.

This is Ariel. She is Amber's sister. She also has Canavan.

This is Lana. She also has Canavan. You can support Lana by joining Saving Lana on Facebook.

This is Lilliana. She also has Canavan. You can support her by joining Lilliana's Hope on Facebook.

And this is my daughter Lily and my son CJ. Lily has Canavan. If you are viewing this blog then you are already supporting her. Please join her blog!

Thank you for reading!

Calling on you and need your help!

I REALLY REALLY need your help right now and the only thing this will cost you is a very short amount of time every day.

Jacob's Cure is a non-profit organization founded by Jordana Holovach to save her son, Jacob, who was diagnosed with Canavan at 6 months old. Jacob's Cure is currently in the running to win $250,000 from Pepsi, but we need your help to do it!

We need people to vote every day, three times a day. Please pass this info on to your online network, offline family and friends.

Here's how to vote!

Vote for Jacob's Cure to Win $250,000 in the Pepsi Refresh contest during the month of January.

You can vote 3 ways every day!!

1. http://www.refresheverything.com/jacobscure
2. http://apps.facebook.com/pepsirefresh/idea/view/id/d3ce2082-05b9-102e-be05-0019b9b9e205
3. Text 105628 to 73774

Visit http://jacobscure.org/vote to sign up for daily reminders and to get the most up-to-date voting information!

Thanks for joining us!!

Little update

So first the most exciting news, Lily has been granted a wish by the Make A Wish Foundation! The wish granters are coming out Saturday to get her wish and then the ball will be rolling on that. We are really excited about this. She wants to go to Disney World. Groovy!

Everyone has been sick on and off here and it's just the beginning of winter! Hopefully we will all get a break soon.

That's it for now. I am still not feeling 100% and need to chill for a bit.

Quick update on CJ's Results

CJ's test results came back (drum roll please).............................NORMAL!!!!! Yay! We are so very happy!
Next they want to test Tracy and myself to see if we have NAA in our urine.....so look for future updates on that.

Also next week I am going to post some pretty cool links about organizations that provide support and fun activities for families with children that have life threatening or chronic illnesses. So keep your peepers open for that!

The Biggest Question

The biggest and most often asked question I get is am I angry with the medical community. I am not, but I am completely disenchanted with the medical community, that's for sure. I thought we (we begin the medical community) knew a WHOLE lot more than we actually do. Not just with the Canavan but as I delve deeper into this realm of genetic issues, I am coming across a large amount of parents with children that have all sorts of difficulties and challenges that the medical community knows that is caused by genetic mutations, duplications, and deletions, but they don't know what to do about it and can only guess what the out come will be. Once upon a time I believe the medical community could fix just about anything. Now that fairy tale is long gone.

Many people say to me, don't accept I don't know from the medical community. I think I am growing a bit frustrated with this misguided but well meaning advice. As I tell my husband, the medical community only knows what it knows. I certainly don't want them just making things up and I much more respect a doctor that will look at me and say I don't know as opposed to one that tried to hide his/her lack of knowledge by spouting a bunch of medical terms and making up nonsense.

I think it's best to keep in mind that I don't know is not the answer they want to give to us. But right now it's the only one they have.

In June we are going to NY to the Canavan Research and Family Conference.  I am really looking forward to this and hope that maybe we will get some more answers about the mild variant of Canavan. It's very hard to find any info online about the mild form of Canavan but until recently it has largely went undiagnosed. This is one of the reasons that all they can say about what is going to happen to Lily is they don't know. This is a new and emerging diagnosis, so not much is known about the mild variation. I am very interested to see in the next 10 years how many children are diagnosed with this mild variant of Canavan.

Oh and here is an interesting tidbit for you......I may have said it before but I can't remember so I am going to say it again.........counting Lily all the children that know of in the USA that have been diagnosed with this mild variant of Canavan are all girls. Now whether that is because boys that have this mild variant are being misdiagnosed with other things or if boys aren't capable of having just the mild variant I don't know but I am leaning more towards misdiagnosed as something else.

And speaking along these lines........CJ just recently was tested for NAA in his urine. Now those of you who know us know that CJ  doesn't have seizures are anything like that at all. Lily however was also symptom free until having the seizures and still that is the only issue at this point in time. Due to that, Lily's Geneticist felt it was a good idea to have him tested. So now we wait. If he does come back with NAA in his urine it will make it easier for us to get the genetic testing for Canavan done. However, if not than we are going to have all kinds of red tape to go through to get his testing done. Good times!



 

Good News!

So got some good news from the Dr today. Lily's sleep apnea is gone! Yay! So that means that Lily's centralized sleep apnea was cause by her obstructed sleep apnea and not cause by the Canavan. So this is totally awesome!!

Potentionally Life Threatening or just life threatening

So this isn't going to be a happy blog post. Nothing has happened to Lily or anything like that. I just need to pen some ponderings that have been on my mind.

So I know how to explain traditional Canavan to people but with the form that Lily has I am never sure what to say......potentially life threatening or just life threatening. And at this point the doctors can't tell me either way. From my own personal research I have found only three others (all girls btw) with this mild type of Canavan. So the medical community can tell me nothing at this point. And what a horrible thing to ponder! No parent should ever have to ponder such a question or be given the news that their child has a condition that may or will kill them.

And I have gone through the question, why us? I always arrive at the same answer....why not? I guess in the grand scheme of things someone has to be that one person or family with the issue. Guess our number was up. Not really a good answer I know, but it's the only one I can come up with.

I deal with it all the best way I can. Maybe I am in denial but I don't think that me daughter will die. That is not something that I would be able to ever consider or face. I guess that is why her seizures scare me so bad. They could easily take her from us.

You know, until this all happened I thought that our medical community had a handle on so much, that they really knew it all. When I would read in the paper, so-and-so was taked to EYX hospital and later died I would think to myself, how is that possible? With all our medical know how,  how are young healthy people with injuries dying at the hospital. The biggest thing I have learned in all this is that our medical community doesn't know jack. Don't get me wrong, I know they are trying but I have been amazed at how many times I have heard We don't know....when it comes to my daughter. This is from the seizures to the Canavan. I have been simply amazed and lost some of my naive. I miss that naive whole bunches.

Lily looks like such a healthy girl and for the most part she is. But then I have seen what many haven't. When her brain waves are out of control and they refuse to stop misfiring. When her body can't control herself and God willing she isn't aware of what is going on. I hope against hope that when she seizes that she is in a dream like state and has no idea what is happening. All the doctors can tell me is we don't know. Don't know if she is aware when she is having the seizures, don't know if we can control her seizures, don't know if the Canavan will progress, don't know if the Canavan will eventually claim my percious baby girl. My biggest fears is one of these seizures they will not be able to stop and she will seize to death. There lies my very deepest fear.

And I know that I should be grateful because things could be so much worse and I do know that and am grateful. But there are certain things that I mourn for my daughter. What about sleep overs when she gets older? What parent is going to feel comfortable with her, confident enough that if she has a seizure they will be able to handle it? And who would I feel comfortable enough to allow that kind of trust? What about her getting a drivers license? What is she has a seizure (patterns can change) during the day at school? Children can be very cruel! I want to beg those children in my mind to please be nice to my baby....it's not her fault.  She is no different that you except that sometimes her brain won't behave. But you won't catch it from her.

My biggest fear outside of death is that children will be mean to her and she won't have any friends. I think back to high school to a girl there who had epilepsy. Her name was Suki and she had very few friends. Now I am ridden by guilt and pain. Why didn't I befriend her? Simple...ignorance and I was afraid. If only you could go back in time and correct those mistakes that hit you like a lead ball to the gut.

Sorry this is such a dark post but these things have been bouncing around in my head for weeks and I needed to get them out.