Rare Disease Day

A rare disease is defined statistically as one that effects less than 200,000 across the United States. Before I had Ayden Jane I had 3 healthy babies with all their chromosomes present and accounted for. I took that for granted. After Ayden Jane's birth and the 8 month search to discover the cause of her struggles I was introduced to the multitude of things that can happen... that do happen. There are so many...

When I say there are so many, I have read statistics that place the number of rare disorders at approximately 7000. Think about that. 7000 ways for things to develop differently. Back when Ayden Jane's genes revealed the source of her troubles, I would have said, "develop wrong, or improperly."

So why the change? Am I just being politically correct now that I am a bit sensitive to this whole genetic sydnrome, special needs, medically complicated, developmentally delayed club we were cast into? Okay, so maybe that's a part of it.

The larger part, however, is that along with being rare genetically, Ayden Jane is rare in many amazing ways. There is a strength and joy and determination and genuine caring that she possesses. There is a boldness of her spirit. She has an incredible ability to love and forgive. She sees the good in people no matter what they see (or don't see) in her. She has a depth to her that is genuine and rare.

I would take away the struggle is a second if I could. Why else would I fund raise to do just that! At the same time I am oddly thankful for the incredible little girl all those struggles have created.

Mostly, as I reflect on rare diseases today, I find I want to know the stories of the people who live with these syndromes. I am, admittedly, a science junkie and I find the science behind all of these fascinating. However, the strength within those who learn to do life differently is more than fascinating. Look for these kids/people. Slow down, take the time to get to know them and allow yourself to be blessed.

Ramblings of a Mom

It is a common thing that the change from not having any children to a family with kids leaves moms with a bit of an identity crisis. Not that you don't have enough 'job' descriptions... I mean now not only are you wife and employee and friend and music/sports or whatever enthusiast, but you add mom.

The struggle, sometimes, comes in how mom is not really something that is just added to the list. The mom title tends to push some of those other things out of the way and change how we see some of the other things. The struggle is real. Sometimes it is a tough struggle. Sometimes it is a relief struggle. But what is certain, it is a big change in more ways than you even imagined while waiting for the little one.

I can honestly say that for Gary and I (yes, Dad's are included) the start of a family was a smooth transition. Maybe it was because Kayla was so easy. Maybe it was because we were just at the right point for our family to begin. Maybe it was so long ago I just don't remember the hard stuff :)

No matter, with each of our first 3 the transition to the addition to our family was a wonderful one. In no time at all we could not imagine our lives any different way. Sure there were some financial worries and some shifting around of responsibilities but I was able to find a great balance between mom life and work life and social life.

Enter Ayden Jane. With this child, there was much more than a bump in the road financially. There was much more than a small redistribution of responsibilities and division of time. There was an enormous amount of stress and worry where excitement and joy should have been. There were serious conversations about how to move our little family forward. There were many things that were tossed aside to make way for the time commitment of Ayden Jane.

This was not the road I intended to travel. Heck, I didn't really even know a thing about this road! Now I am here, several years down the road with Ayden Jane doing well. On the verge of attempting to go back to work - needing to go back to work both financially and mentally. I have an entire community of friends with a unique bond over our children even though most I have never met. I have much fewer bonds with local friends as I have not taken time to foster those friendships. 

On one hand I am so very, very ready to shift away from 'doctortherapistmom' and back toward working outside the home mom. On the other hand, part of me is not sure I remember how! It's an odd place. Much of what I spend my time on is still reading medical journals and new research and books on sensory processing and supplements and nutrition and.... I'm almost addicted. lol

On the other hand I want to be involved in nearly anything that has nothing to do with PWS. I want to remember what I used to read about. I want to be more carefree. I know that I will never be able to go back to the person I was before Ayden Jane and that is just fine by me. I have learned so much that is good and I want to take that with me. I guess, in the end, maybe I am just finally at a point where I can breathe and relax, I just don't remember quite how!

Local Endo

This week Ayden Jane and I made our semi annual trip to see her local endocrinologist, Dr. Clark. She is pretty awesome. We had already done blood draws and knew levels looked good so that was out of the way.

She did the quick back check and all looked well.

We did height and weight. I was sort of dreading that because AJ is still sporting 2 of the 5 pounds she gained while I was away. I have no worries about it as she is slowly but steadily shedding the weight, but I knew that we would be plotting along the growth charts... The good surprise is that she is still tracking right along!

The shocking surprise is they measured her at 54.9 inches!! She is nearly 4'11". That just blows my mind.

Dr. Clark checked her bone age with a hand x-ray. We do this annually. Back when she was so sick for the winter just after she turned 4 her bone age accelerated. At one point she was nearly 2 years advanced which is not good. Basically, it just means that she would stop growing earlier than typical and therefore lose some height in the end. Since that time, her bone age has been slowly correcting. She is now a bit under a year advanced for bone age which falls within typical.

Dr. Clark used bone age, current height... to predict her final height. She told Ayden Jane that she would be 5'6", about the same as me. Ayden Jane told her, "oh no. I am going to be as tall as my sister Kayla." I think she has taken it as a challenge.

Ayden Jane was great. She chatted and showed off her improved writing skills. It is so fun to watch her show just how typical she is to Drs./people who have experienced a very different version of the syndrome. They just love listening to her and watching her and hearing about how great she is doing in school.

We are very lucky to have such a great Dr. not too far away. She is interested in Ayden Jane and learning from her and from Dr. Miller and using that to help other patients. Yep, hooray for smart, humble, compasionate and open minded Drs. 

Crazy Eye

Ayden Jane has mild strabismus in her right eye. We call it her crazy eye. Maybe that sounds a little cruel but it doesn't bother Ayden Jane. Typically, when she is tired or has her glasses off for a period of time, the right eye starts to struggle to stay aligned.

Ayden Jane's OT has been working on some things to help her strengthen the right eye and get it to coordinate better with her other one. In the long run, if she can get her eyes working together better it can be super helpful with writing, finding things on a page, looking up at the board or teacher and back down, sports.... pretty much everything.

Today Ayden Jane was swimming for a little bit and after swimming I noticed she hadn't had her glasses on for a bit and had even played a bit on the ipad with no glasses and guess what?  No crazy eye. That is huge. Then I started to think about it and I honestly don't remember seeing her eye turn in for a few weeks.

Now, I'd like to hope that this is a complete victory, but I know better. There is more work to be done, but her eyes are responding and the muscles are getting more coordinated and stronger. The eye doctor said that if she wore the glasses enough and her eyes got stronger - no more crazy eye - he would be able to reduce her prescription and maybe (and it's a big maybe) she would be able to get rid of them.

Every little bit makes me happy. Need to celebrate the little victories!!

Cruisin' Right Along

Ayden Jane is doing great these days. This evening I am sitting on the sofa, listening to Ayden Jane do such a typical grade school kid thing. I know it seems like a little thing, but as she carefully chooses which Valentine should go to each of her friends... As she carefully writes their names on the card... As she proudly tapes a glow stick to each one. (because candy is bad for you and she thinks it would be silly to give them something bad for them) It is all as sweet and wonderful and 'normal' as when my other kids performed this ritual.

Earlier, she was helping Gary in the yard. We have had lots of branches fall and sticks all over the yard. He told her he'd give her a nickel for every stick she picked up. She went to town and picked up 111 sticks!! Well, something like that - she was counting for herself. Anyway, afterwards we decided to take our evening walk (mile and a half every night) before she started her Valentines. During the walk she was talking about what she was going to do with her 111 nickels.

I asked her how much money 111 nickels is. She was a bit stumped at first but we worked through it. I asked her if she could figure out how many nickels one dollar was. She said she didn't know, but that each nickel was 5 cents. Then she started counting by 5's to 100 and asked if 20 nickels made a dollar. I told her yes! Great job. Then asked her if she could now figure out how many dollars she had if 20 nickels is 1 dollar. She skip counted by 20's (slowly, but on her own) and jumped up and down when she realized it was 5 dollars! When we got back she informed Gary that he had to give her 5 dollars and 11 nickels. I'll take it. I was really impressed actually. Money can be a tough one!

In school she is working on fractions. She hasn't had any trouble really with the concept and totally understands things divided into halves, thirds, and fourths. She did struggle a while with partitioning shapes into these quantities. It was the actual drawing the lines and making a shape divided into fourths at least reasonable proportion wise. I honestly thought it was beyond her... due to visual spatial things. She bombed it at first but sure enough, as she did her review sheet tonight she nailed it.  Love that kid.

Also, they were making grids with rows and columns - basically discussing area. She totally got that it is like multiplication (which doesn't actually come until 3rd grade) and preferred to set up a multiplication problem and solve than count boxes. Love it.

As always, when she is tested she will score lower than her understanding because she just makes simple mistakes and loses focus sometimes but wow does she have the math concepts!

MTHFR

Your imagination could give you a lot of interpretations for the letters MTHFR. So what does that stand for and why is it in this post?

It stands for methylenetetrahydrofolate reductase. So yeah, we will stick with MTHFR. Basically, there is a fairly common mutation which can occur on this gene. Lots of people have a form of this mutation and it does not change much for them. However, as with anything in PWS, each little bit that is off just adds up. 

This is a copied snipet off Google: Summary: MTHFR is an enzyme necessary for an important metabolic process called methylation. It is this process that converts folate and folic acid into an active form the body can use. The MTHFR gene produces this enzyme, but a genetic mutation can inhibit its function. I have seen the estimate of this reduction to be anywhere from 30-70 percent depending on the mutation.

So why does this matter? It is becoming fairly well known that many kids with PWS respond well to doses of B12. Some have an almost endless need for it and some other issues in the B vitamin category. Without going into details that I can't yet totally wrap my brain around let alone explain, this has led Dr. Miller to suspect that this gene mutation may be adding to the problem. 

Now, I am not in any way saying that PWS causes or always includes this gene issue. More that it is a fairly common mutation in the general population but possibly, it rears it's head more strongly for people with PWS. 

We know from past history, that Ayden Jane is very dependent on B12 supplementation. There are some odd responses to things in the B category that has prompted Dr. M to request that we have Ayden Jane tested for the issue. It's not a rush to get it done, just a possible additional piece to the puzzle that is Ayden Jane.

So, what if she is positive for this? I means that we may need to give her a supplement of the active form of folate because it would mean that she cannot break down synthetic folic acid. Since the B vitamins all work together and are dependent upon each other in various ways, filling this whole could then improve lots of things. 

So the take away is, we will absolutely test for the mutation and supplement if she proves positive for it. It's an easy fix so why wouldn't we? I will say, I told Dr. M that my guess is Ayden Jane will test negative for the gene mutation because little Ayden Jane likes to remain a mystery and never make sense. We shall see.

Tough Lessons

The week I was out of town everybody learned something. I was gone for 6 days and when I returned, Ayden Jane had gained 5 pounds. Yep, 5 pounds in 6 days.... uggh.

So how did it happen? Did Ayden Jane sit around and eat junk for a week? Nope. It was the perfect example how easy it is for people with Prader Willi Syndrome to gain weight. Ayden Jane ate her typical breakfast and her packed lunch for school every day was not really any change. After school snack was bigger and supper included a fair amount of eating out. So all in all there was definitely an increase in "energy in" as I refer to it with Ayden Jane. 

Secondly, I could tell by her fitbit stats that there was a pretty big decrease in her "energy out". Typically, she averages her 10,000 steps and then some. The week I was gone she averaged more like 6,000 steps. 

Of course, my first reaction to it all was wanting to scream. Scream at PWS, at Gary, at Ayden Jane and at the feeling I can never leave her without her world falling apart. It was rude return from a week of zero stress.

I said I wanted to scream, but I didn't. I took a deep breath and watched as Ayden Jane was heart broken. She was upset enough for all of us. Quotes such as, "what if it just keeps climbing?" and "Are you disappointed I didn't do a good job?" and "What will I have to do to fix it?" Lots of oh, no's and tears....

So hard to watch an 8 year old who bares such a burden. It was one of those times when I am reminded that Ayden Jane does feel the burden of PWS. She handles it all so smoothly most of the time, blending in as just another 8 year old but ... she's not. I'm sure it is similar to a child with any chronic medical issue - often my mind goes to diabetes. The parallel being that there is just no 'time off' from the syndrome. It is work, every day. Each day needs exercise, each day needs good food choices and while an occasional large meal can be absorbed, too many of those in a short time is just not an option.

As usual, we gathered ourselves and made a plan. I took the opportunity to teach Ayden Jane (again) about the energy balance of 'energy in' versus 'energy out'. We decided that we would add in a good walk every day and cut back just a tiny bit here and there and see how things were going in a couple days. 

Today is six days later and I am happy to say she is back down 2 pounds. Hooray!!! She was so happy when she hopped on to check her 'number' this morning. She informed me that the walking has helped so much and that we should keep going until her number is back where it should be. Too cute and definitely a lesson learned.

As for Gary? Well, everyone needs the wake up call that the stakes are high. He, of course, felt awful and has an entire new, deeper understanding of just how delicate the balance is. I have no concerns about going out of town again because I know he would do things differently.