Monday, January 30th, 2012

World RARE Disease Day is February 29th - 30 days from today.  Why is the number 30 so significant?  30% of children with a rare disease will die by the age of 5. 

Nager Syndrome is considered rare.  Depending on where you look on the internet, there are between 75-125 cases reported.  When Peyton was first diagnosed by her clinical features she was only a few days old.  The geneticist pulled out an old book to show us a photo of a child with the syndrome.  The geneticist made a copy of the information for us.  Were it not for the Nager and Miller Foundation website and the internet in general, those few paragraphs would have been all the reference material we would have had. 
Like many families who have children with a rare disease, we are often educating the physicians treating Peyton about Nager Syndrome.  One of my first experiences was sitting in an ER and having the resident come back and tell us that she had just spent several minutes on the internet trying to find out more about the syndrome to assist her in treating Peyton.  Ever since then, I decided I needed to be more prepared and put together a hand out for specialists, pediatricians and therapists on what Nager Syndrome was and what clinical features Peyton did or did not have. 

When I began blogging, we had no idea the specific syndrome Peyton had.  But as a result of continuing the blog after her birth if you do a search on the internet for Nager Syndrome and look at the images section "Pictures of Nager Syndrome" you will see several photos of her.  Some may consider that an invasion of privacy but for the Nager families that are to come, I want them to have more than just an outdated black and white photo and a few paragraphs as they start on their journey.  I want them to see that a child with Nager will certainly have challenges but their lives can be rich and full - as their lives as their parents will be as well.  Without the internet and organizations like the RARE project, all of us who are touched by a rare disease would be even more isolated.  And really, the term "rare" is relative when you read these statistics:

* 1 in 10 Americans is affected by rare disease.  That's over 30 million people.  30 million Americans is more than the total number of people living worldwide with cancer.
* An estimated 350 million people are affected by rare disease worldwide.
* There are more than 7,000 rare diseases with some affecting less than 100 people.  75% of rare disease affect children.
* These rare conditions are chronic, life threatening and FATAL.  There are NO cures for any rare disease, and only 5% of the diseases have any type of treatment.
* Over 50% of Rare Diseases have no foundations, advocacy group or community support.

So what can you do on February 29th to bring awareness to Nager Syndrome and all rare diseases?

1. Help unite 1 Million for Rare on the Global Genes Poject Facebook page so that we can increase awareness to the rare disease community.
2. Wear that you care (using jeans to call attention to genes that can cause rare disease) and encourage others to do so.  Share your photos on Facebook of your jean support.
3. Donate a bracelet to the 7000 bracelets for hope campaign.

Sunday, January 29th, 2012

If there is anything more fun then making a mess it is making a mess with a friend!

Peyton Nicole Smith

Sunday, January 22nd, 2012

It's only been a week since we first went to see the otters, but Colin hadn't been to see them yet so Jackson and I were eager to be his tour guides!  We got there just as the doors opened so we had a few minutes of hanging out with the otters before anyone else was around.  While Mommy and I were hanging out in the otter cave that pops up into their enclosure, the otter walked right up against the glass.  He was so close I was a little startled at first but quickly got over my fear and was very interested in everything he was doing.  I was a little sad when we had to leave, but Grandma Glenda has already promised to take me again later this week.

Peyton Nicole Smith

Saturday, January 21st, 2012

A note from Mommy:

In the bath tub tonight, Peyton and I had a conversation about swimming.  Now this has been a hot topic in our household because Peyton has requested many times over the last year to be able to go swimming and we have to explain how dangerous it would be to get water in her trach.  She was having her Barbie swim in the water.  While doing this, she commented to me that because Jackson doesn't have a trach he can swim.  Then she added that because Traiton doesn't have a trach he can swim too.  I agreed with her and told her that in the future if her trach comes out she can go swimming.  She pointed to her trach and seemed concerned and pointed out that she would still have a hole there.  The kid is sharp, she realizes that even if we pull the trach out there is a still a hole for the water to go into.  So then I explained that if she doesn't need her trach any more the hole will eventually go away.  She seemed to understand and we moved on to another topic.  It wasn't a particularly earth shattering discussion but what I was struck by was as she pointed out all the people who could swim, she wasn't unhappy or disappointed that she isn't able to.  I am certainly not devastated at the thought of her not being able to swim but I have been worried that she might be secretly sad about it.  She continues to show me all the time that she accepts her life just the way it is. I am not so naive to think that will always be the case, but what a lesson to learn from a 4 year old.  She really teaches me that no one else can define the value of a life except the person living it.

Thursday, January 19th, 2012

The secret of dealing successfully with a child is not to be its parent. ~Mell Lazarus


A note from Mommy:
 
Although I never expected parenting to be a walk in the park, I don't think I was prepared for how quickly Peyton could figure out what "buttons" to push and how often she would choose to push them!  Looking back age 2 seemed like a minor blip in the grand parenting scale and then age 3 started to really test out our parenting abilities.  Age 4 has been a 1 step forward 2 step back type of experience.  The number one biggest issue we struggle with is Peyton's constant acting out towards the dogs.  For some reason, this is a button she has been pushing since she was 2.  There have been moments in the last few months that she has demonstrated how sweetly she can treat the dogs (that would be the one step forward) but then moments later she will come up and hit at them for no apparent reason (and that would be the two steps back).  At times, it even seems like she is doing it without even thinking - a body memory that is so ingrained it's as if her hand or foot has a mind of it's own!  There are certainly other undesirable behaviors, but this is the one we correct more than any other and for the longest amount of time. 
 
So when the local school district was offering an 8 week parenting class for $30 a person and it happened to fall on the same night we had already scheduled respite hours each week I figured it was meant to be.  Tonight was the first night but our respite nurse called out sick so a heartbroken thrilled Travis had to stay home with P so I could attend.  There were 4 other parents in the class.  The three other women had husbands that were all supposed to attend but magically there was an excuse for everyone of them ; ).  All four of us had children in the 4-7 range with three of us specifically wanting to address issues with their 4 year olds.  The last parent to arrive was the father of an adult child, 14 year old son and 8 year old daughter.  His concerns were in regards to the 14 year old.  The instructor is a LCSW who worked at PCMC for a number of years specifically interacting with children who had been abused.  She also spent about a decade in the schools on a program for teachers.  It's hard to tell where the next 7 weeks will take us but if nothing else I can tell I will find some kindred spirits in the mom's of these other 4 year olds!

Wednesday, January 18th, 2012

You can call Mommy a little too efficient after today's appointment (she never realized that was actually possible).  When she scheduled the follow up appointment with Dr Morales today she figured with all the electronic medical records and technology it should be no problem for him to get the CT scan for the appointment this morning.  Although the written report was completed and the 2D scan was available, apparently the 3D scan was not.  He didn't feel comfortable making a decision on which surgery to proceed with until he had a chance to see it.  Since he is out of the office all next week it is unlikely he will get back to Mommy until the 31st or after.  He did decide after looking at Peyton more closely that her jaw is much to tight not to proceed with doing the joint surgery sooner rather than later even if she is not a great candidate for compliance using the Therabite afterwards.  The question to be answered by the CT scan is which surgery to do first - joint repair using a rib graft or another jaw distraction.  Despite not knowing which surgery, we went ahead and got on the schedule for 4/16 because there will be surgery one way or the other!

Peyton Nicole Smith

Tuesday, January 17th, 2012

Before Dr. Morales can decide which surgery to do next - my joints or another jaw distraction - he needed an updated CT scan.  After rescheduling it multiple times due to my ongoing colds last month, the day finally arrived.  Due to my complete freak outs for xrays, Mommy planned another sedated CT.  This always requires a lot more planning because of the anesthesia.  When Mommy broke the news this morning that I needed to go to the hospital I was pretty sad and on the way there I was very quiet as I contemplated what was to come.  After checking in, they took me back to the pre sedation area where a child life representative was waiting to entertain me.  She brought some toys to keep me occupied but she also brought something else with her I hadn't seen before.  It was a book of photos taken of a little boy my age throughout the process of getting the CT scan.  While we waited for the Versed, Mommy and I looked through the photos and talked about what would happen.  I was pretty relaxed and Mommy thought maybe I wouldn't need the anesthesia after all.  The nurse went ahead and gave me the Versed anyway since it would just relax me further and while we waited for it to take effect, I "practiced" laying on the bed like I would need to during the procedure.  Thirty minutes later, I wasn't really feeling the Versed yet but Mommy was feeling positive that I would be able to do it with out the anesthesia.  Mommy carried me down the hall and was able to stay right next to me the whole time.  I could see a beautiful cloudy sky mural above me as well as the Mickey Mouse Clubhouse on the TV and just as we had practiced, I held really still and "froze" like Yo Gabba Gabba.   Within just a few minutes it was all over and Mommy snapped the picture above before I got to go pick out some treasures from the treasure box.  I told Mommy I was so happy that it was all over!

Peyton Nicole Smith