PWS Awareness month - wrap up

First of all, I most want to say Thank You. The love and support we have been blessed with over the past seven years has made all the difference in our lives. I know many of you pray regularly for Ayden Jane and our whole family. It is a gift. So many of you have pitched in and cared for our big kids when we couldn't. You have blessed us financially as we strive to help fund the life changing research going on. You have taken time to care and to listen. You have loved Ayden Jane and not been deterred by the extra time or care she needs sometimes.

As this years edition of PWS posts come to a close, what is most on my mind is how much less I have to say about PWS at this point. Wait. Maybe it's not less as I have tons of information packed in this head of mine that has been acquired over the past 7 years. Maybe it's just different? Maybe I mean it's more organized and scientific. Or is it just less fearful?

How different would the last 7 years have been if I had been given a crystal ball and seen Ayden Jane doing what she did today. Enjoying children's church and singing songs, running, playing with the neighbor kids, doing flips into the pool with the gang, reading to me before bed. If I had heard the words come from her that I heard after lunch today. "Mom, I need to rest my belly. It is really full." 

The feeling of racing against time has finally subsided. The constant push of therapies and checking off milestones and trying to balance supplements and even just deciding which supplements were helping. Searching for doctors who were open minded with what we were doing and up on current research. All the while second guessing myself and devouring every word of reading material and research I could get my hands on.

The worry about whether the decisions to move away from conventional dietary protocol for PWS and the incredible weight of that decision is gone. I know without a shadow of a doubt that the choices we made very early on were right for Ayden Jane. Not perfect, because I don't think there is a perfect, but right. 

The waiting to see which of the long list of challenges that come with PWS would rear its head is over. I believe that whatever challenges may still come our way we will be able to deal with them but I won't be surprised if there aren't many.

The shadow that always seemed to lurk in my mind that one day Ayden Jane would wake up and all the terrible predictions her first doctors had about her life and our lives together would come true is finally no longer noticeable. 

Ayden Jane has gone from my silent, motionless and non responsive little one in NICU, through a host of possible diagnosis which did not offer us much hope and ultimately diagnosed with PWS to an amazing little girl who truly lives life with an enthusiasm that is unmatched. She has no idea that she is supposed to have limitations and has dreams well beyond what we could have hoped for.

I am thankful that the stressful, lonely early years of trying to figure this all out on our own are behind us and get a tremendous joy out of seeing younger children with PWS continue to defy and rewrite the old textbooks of what life with PWS is supposed to look like. 

With great excitement I look forward to the hope being offered in research. With joy I talk to parents who have just received that terrible news of diagnosis and offer them hope. Not promises that their child will not struggle or that there is a magic formula to make up for those missing genes, but a glimpse of the future. An example of a happy, energy filled little girl who continues to take on life with a positive attitude and an unmatched determination.

Race Update

So many people supporting Ayden Jane - she feels the love and support!! She gets so excited with the shirt filling up. She grins and jumps up and down. It's adorable. The money, well she doesn't really get the values too much but is happy that she is doing something to help find answers for herself and all her friends. I think in the end, it is just so great for her to be able to feel like she is taking charge of the syndrome in some way and know that lots of people are willing to help.

Ayden Jane is still into the running. She has run 17 minutes consecutive and will be at 20 by the end of the week. She has been great about going and I pretty much just let her run as slow as she wants... I figure it's as much about the commitment of time and effort as it is about racing.

No idea how race day will actually go. Her pace is painfully slow so the 30 minute run our training program works up to is only going to cover the first couple miles. I am sure typically, those who have followed the plan are not finishing the entire race in 30 minutes, (it is couch to 5k) but that race day excitement gets them through the extra 5-10 minutes necessary. Hoping for the best.

What I do know is that we are going to make crossing that finish line a BIG deal. She has stuck to a program of running for 8 weeks already and that's an achievement!!

Since it is hot here in South Carolina, we wait until evening to run. The only problem with that is often the running comes after a fun filled day of boogie boarding, playing in the ocean and swimming in the pool. She has been sun drained and literally spent hours in the water and still drug her little body out to run.

Here is the link again if you are interested in adding your name to her list of supporters! She has the entire front of her shirt totally available!!

http://onesmallstep.fpwr.org/dw/users/teampwsparents/spartanburg2015

Training update

My goodness this month is flying by. I guess it always does this time of year with the end of school and start of summer. The beach and pool keep calling our name but we still have that whole school thing to do too...

Squeezing training in has also been a challenge. It is too hot for Ayden Jane to run in the afternoon so running gets pushed to evening - which means after a full day of school and play and ocean... So she is tired. We are in week 7 of training and it has been a little rocky this week getting all the runs in. I'd say we are one behind.  I feel pretty confident that race day she will truly be able to run the first two miles (at her crazy slow pace) but I have no idea what the third will bring. Probably needed more time to prepare but I do know that she will do her best!

It is interesting 'listening' to her run. I think it must a something related to PWS that causes her to have a very uneven gait for the first part of the run. I try to encourage her to just keep a steady rhythm as she runs but she can't seem to turn her legs on autopilot and have them just keep going. Every time her mind thinks of something, or she checks the time... her gait breaks down. A ways into the run she settles in a bit better. I think it likely makes running harder on her body.

I have tried to help her through this but she gets frustrated so she gets angry with me... We should have done a 16 minute run yesterday with a 17 minute run coming today but most likely we will just hit 16 today. Thankfully my mom's community pool is fixed because she has found she really likes running in her neighborhood and then jumping right into the pool. Great plan! It's a 2.2 mile circle so I am hoping by the end of our 'training' we will make the whole loop comfortably and excitement of race day will get her through the rest.

On other fronts, I discovered (quite by accident) that she is still quite sensitive to supplements. Acetyl carnitine is one of the two forms of carnitine I give her. I tried to change how I was giving it to her and without boring you with the details... I was giving her too much. Now, it's not something that would hurt her in an overdose sort of way so no worries there. It does, however, make her brain operate in a state of overdrive! She had a couple days of major arguing and melting down before I realized. It's like when you are way over tired and drink way too much caffeine to compensate so you are absolutely strung out and quick tempered. Good going Mom. (seriously, I had to apologize to the rest of the family because AJ was not fun to live with.)

PWS month - Siblings

No doubt being a sibling to a medically complicated/special needs (PWS or otherwise) child is challenging. It's not something the sibling asked for any more than the kiddo with PWS. I struggle with the ways that Ayden Jane has taken away from her siblings.

Time. Especially for the first several years the world really had to revolve in large part around Ayden Jane. There was much to learn about food, supplements, therapy, doctors... the list was long. It was like relearning to be a parent but in a super crash course. It took my time and attention for hours each night as I used the internet to read and read and read...  I did not have a good medical team until Ayden Jane was 2 so even when I was not actively reading I was always thinking and distracted with how to best help her. Then there were therapy hours logged and therapy homework and doctors appointments. This was time I was not available for the other 3 kids. Sometimes it hurts my heart that I missed so much time with them.

Financially. We were blessed that we were able to make the choice for me to stay home and pour into Ayden Jane those early intervention years. Gary worked so hard to keep an income coming in and family encouraged us and supported us when those ends just would not meet no matter what we did. Our other 3 heard 'no' to purchases and vacations and learned to make due with things like old shoes for longer than I would have liked at times. Shoe string finances are stressful and we tried not to allow the stress to pour through to the kids but I know it did at times.

Scary. Watching a sibling struggle so much is just plain scary. Not scary constantly, but there are times when the reality that life is not always a bed of roses hits hard. The times when Ayden Jane would get into something on their watch... they just knew the stakes were so much higher. Times when her ninja powers would come out and she would wander off in a moments notice and we couldn't find her. Times when Ayden Jane would get sick and it would wreak havoc on her body and behavior. Times when they would worry what her life would be like in the future.

The amazing thing is that despite all of that, Kayla, Noah and Mckenna love Ayden Jane to pieces. They are her greatest assets and biggest cheerleaders. With no complaints (okay with rare complaints) they fill in the gaps by taking care of each other. They know that financial needs will be covered as best as we possibly can and will wait patiently. They see how hard Ayden Jane has worked and couldn't be more proud of her. They have a deep, heart-felt understanding that kids with differences are kids first. The differences part is no big deal.

Kayla, Noah and Mckenna are Ayden Jane's heroes and blessings and I couldn't be more proud of them.

Training Update - 6 weeks to go

Ayden Jane has completed week 5 of the couch to 5k this week. It has been so cool to see her go from struggling to run 3-4 minutes and wanting to do the race but not sure she could, to running 11 minutes and confident that she can make it.

I was a little concerned when we started the mission that it would be an okay thing for her to do orthopedically speaking.  She has orthotics in her shoes and has had trouble in the past with her right leg attempting to internally rotate. Apparently, she also tends to run with a tibial whip on her right leg. I didn't know what it was called, but I saw the little sort of semi circle she whips at the bottom of the leg. It sounds a little crazy, but I watch her leg really closely because when the leg starts acting up it often leads to a curvature in the spine and scoliosis can be a tough opponent in PWS. I checked with mrs. Jen her PT and she said go ahead and start and that she'd take a look at her run when she came.

Mrs. Jen came a few days ago and she was really happy with how Ayden Jane looked while running. She says the training is helping and that the tibial whip is there the first few steps but as she settles into the run her legs look great! I think it is really helping strengthen that right leg and I know it is building Ayden Jane's confidence.

We are now headed into week 6! Ayden Jane is totally hooked on the training program. This week included running laps around the parking lot of the hotel when we were traveling and fitting in an 11 minute run when the rain slowed during tropical storm Anna. Yes, you read that right. We went running during a tropical storm... Let me be clear, it was NOT my idea.

This week will really test her as the jump in times is 2 minutes each run instead of the 1 minute jump she is used to. By the end of this week she will run a consecutive 15 minutes. I am hopeful it will go well but I know it will be a challenge for her.

The really cool thing in her passion to train, though, is that she feels like she is really helping. Helping Mrs. Gwyn keep training, helping raise money for research, helping other kids with PWS know they can do anything, helping her friend K to work on his running... 

She is a 7 year old kid who deals with so much, but her heart is strong and courageous. She fearlessly pushes forward not only to handle all her own daily challenges, but do all she can for others as well.

http://onesmallstep.fpwr.org/dw/users/teampwsparents/spartanburg2015

PWS month day 4 - neurogen what?

What does it mean when 'they' say Prader Willi Syndrome is a complex neurogenetic disorder?

Honestly, I'm not sure what the actual definition is, but my experience tells me what it means for Ayden Jane.  The complex part you find out quickly. It stands for effects way too many things that I didn't even know were connected in the body. One tiny little piece of DNA messes with temperature regulation, sleep, metabolism, hunger, endocrinology, muscle tone, motor planning, hunger, growth and development.... Okay, I'll stop there, you get the picture.

As for the neurology piece, in Ayden Jane it shows up in processing speed. Some days she just fires a bit slow. Her response time is slow. She is a step behind. It means that when she was tiny, she needed to be taught how to coordinate crawling, standing, walking, stairs, talking ... pretty much all of it. She came prewired with the ability to do all of these things, but that magic piece that just makes our bodies connected to our brains and the magic of these things just coming was not available to her. It means that she craved motion - swinging, bouncing, upside down, spinning. It means she used to get overwhelmed in new places and just stare. It makes her not always know where her body is in space (not outer space people) so she runs into things, spills things, breaks things... It means she will sometimes overheat and not feel good. It means extra effort to make her body do what she wants to do. It means many things the rest of us likely never even think about because our bodies just do them automatically.

Genetic? Well, that means the root of it all is in her gene's. It was there when she was first formed. It is how she is made. It is tiny non working piece in every cell in her entire body.

So what do we do about it? I mean, that's a tall order to deal with! Basically, we do what we can to just work around the missing genetics. It effects the ability of her brain to use glucose? We don't give her sugars and instead her brain works off ketones. She can't figure out how to make the movements to crawl? We do physical therapy and teach her. She doesn't produce growth hormone to develop lean muscle mass? We give her a nightly shot of it. Her body does not absorb nutrients well? We give her supplements and a ridiculously healthy diet. She struggles to mylienate nerves and make connections, we are sure she gets plenty of good fats and B12 and things to develop what she has. If she had sleep apnea? she would sleep with cpap.

Okay, the list goes on and on and I'm guessing eyes are glazing over but you get the idea. We work each day to make the best use of all the awesomeness that Ayden Jane was created with and just work around that little piece that makes her different.

Day 3 - PWS Awareness Month - Being 'the mom'

At diagnosis, our hopes and dreams of what Ayden Jane would be able to do came crashing down. I won't get into the long list of things we were told Ayden Jane would not be able to do or the hard things she would have to deal with. I'm going more toward the "where we are now" side.

Ayden Jane is in regular classes at school. She works very, very hard to be average academically. Things don't always come fast or easy for her, but she has the persistence to stick with things until she gets them and once she gets it... she has it for good. She told me the story the other night of a friend in her class helping her with math. She said her friend stayed with her until she really got it so she didn't have to keep coming over to help. Ayden Jane was so appreciative of the help and I love that she felt totally comfortable asking.

Ayden Jane swims on a team with typical kids. Since her body does not develop lean muscle mass as well as typical kids, she again works very hard to keep up.  She likes working hard and says swimming makes her body feel good.

Ayden Jane plays soccer on a recreational soccer team. She has come a long way and I can say that by the end of this season, she is playing soccer - not just taking up space on the field. She can play on the team of typical kids but I don't think even all her striving has brought her to average on the field. She still loves it so we keep playing. She has been blessed with an amazing soccer coach who is so encouraging that Ayden Jane always feels like she did great.

Ayden Jane loves to set goals and achieve them. Whether this is because she has had therapies all her life with goals to achieve and a cheer leading section at the ready for each little accomplishment or if it is her innate personality I'll never know. We use this to her advantage though, like her mission to run the 5k

So as 'the mom' I watch all of this take place. I am so proud of all her hard work and the confident, independent little spirit. The giant smile she starts the day with and her giving, kind nature.

However, as 'the mom,' my heart also hurts for her. She has Prader Willi Syndrome and because of that she is different. She lives by different rules. Life is harder. Making friends is harder. Being good at things is harder. I wonder when she is going to get tired of the fight, frustrated that every second of every day she has to work harder. I wonder when the words "it's not fair" will come pouring forth from her and the sadness I feel at times for her will be inside her. I hope that the other girls at school think to include her from time to time. There's a difference between not being excluded and truly being included.

The good news is that as Ayden Jane gets older and we continue to learn how to help her manage PWS and as the research advances, she blends in as just a typical kid more and more.

I suppose it will always be hard on my heart. It is hard to let her plunge into situations I am not sure she can handle. Hard to watch her figure out the social jungle that is childhood. Oh, the momma heart... Ayden Jane you make it so full of pride and fear and worry and amazement. We all have a lot to learn from how you live life.

Training Update

Ayden Jane is doing GREAT. We are keeping pretty much on schedule and she is now nearly finished week 4 of her couch to 5K plan. It has been interesting to watch her figure this thing out. When she started she would panic a bit about 2 minutes in (with only 5 min run total). Last night she breezed through an 8 minute run and is set to run 9 minutes on Sunday.

The past few weeks have been busy with the end of soccer season and still having swim team training. It's going to work out really well that soccer wraps up this week with practice tonight and a tournament (2 games) tomorrow. Next week she is up to running 4 days a week and with swim team 2 days it will be all we can handle.

I waited to really 'announce' what Ayden Jane is up to because I wanted to be sure she was up for the challenge. She has a tendency to jump in with both feet into really deep waters just sure she can do things. That's when I start to sound like Marlin from Nemo... You think you can do these things Ayden Jane but you can't. When will I learn.

I have gotten better. I don't tell her she can't, I just help her find a way she can. In this case, it has been all about support. Sending pictures to Mrs. Gwyn when she has finished running and knowing that she is helping Mrs. Gwyn by not giving up is one great piece of motivation. Yesterday, when she received Gwyn's training update she said, "could she make it through the whole 8 minutes because she was thinking about me?" Of course I assured her, Yes! (never mind Gwyn is on a mission to get healthy and might be doing a bit of this for E, her own little one with PWS)

So, today we go live in honor of Prader Willi Syndrome awareness month!