Carnitine

We have been supplementing Ayden Jane with Carnitine Fumarate since she was about 9 months or so. (Shortly after diagnosis) In the beginning, since I had no guidance other than the internet, I researched very carefully the dosages and administration of all the supplements I gave her. It was a bit overwhelming, but in the long run it has been good. I have a decent understanding of what each supplement is for and how it works and what it works with... Since all of that I have gotten a bit lazy. AJ has obviously gotten bigger and her dosages likely need to be revisited. I once was very careful to be sure all doses were split 2 or 3 times a day. Then, over time, it was down to just morning with supplements. Carnitine was one that we had tested in her lab work at the sibling study and sure enough, it is low. It seems to be a pathway that is truly impaired for AJ.

First thing we are doing to correct this is that I am going to stop being lazy and give her the second dose each day. Carnitine is one supplement that definitely is better to split doses as the body can only absorb so much at one time. We are giving her one 500 mg cap in the morning and 1/2 of one at night (250 mg). That is a pretty significant jump, but still not a huge amount by dosing standards. I asked Dr. Miller about adding some acetyl carnitine (ACL) to try to hit the pathway from every angle. She thought it was a great idea and is sending me a script for it. That will be nice so that I don't have to worry about trying to dose it myself or find a good source...

So far, I have given her the night time dose for a couple of nights. She did have an amazing day today! Here are a few highlights. She really got into pedaling her bike. In fact, she went up the hill at the end of the drive and across the really bumpy road with not problem! Until now she would hit the hill and was stuck. She 'self therapized' by doing wall push ups and 'hand stands'. I am having to make her eat. Weird.

And the funny story of the day. Gary and I were talking in the car on our way back from Mckenna's soccer game. Ayden Jane always wants to be a part of the conversation so she tries to keep up or just asks random unrelated questions so we will talk to her. AJ started to call, "Dad... Dad..." When Gary finished what he was telling me he asked AJ what she wanted. Her answer, spoken slowly as to enjoy the center stage, "Well, I don't actually have a question."

We will see what happens when we get both forms of carnitine running! Yikes!

Spring Break - Genetics

Well, it is nearly over, but spring break has been fun. The big kids went on a road trip to visit some friends at the beach in St. Augustine. They were in search of adventure, bigger waves and warmer water. I think they had a great time, enjoyed getting to know old friends all over again and accomplished their mission to relax, surf and enjoy.

Gary worked much of the early part, so with the big kids gone and Gary working, Mckenna, AJ and I made our own fun. We went to the beach and 'grandma's pool'. The water is still too cold for AJ to get in much, but she found things to do anyway. The first day at the beach she showed her excitement by taking off down the beach. She ran way ahead of me and would turn around and grin. Then she would wave and after I waved back she would turn and run further ahead. Not to worry, our beach is sparsely populated this time of year, but it was funny to watch people see her and try to figure out if anyone was following her! At the pool she jumps in and swims about 15 minutes then lays on the warm concrete. The whole time in the water she giggles talks about how cold the water is.

For a kid who loves school and schedules, she has really enjoyed spring break. Before bed she asks, "when I wake up is it still spring break?" When I tell her yes, she wants to know if we will go surfin' and swimin'. She has been great in the morning as she is our ONLY early riser. She is still sleeping in our room, mostly due to lack of space, but it makes mornings easy. She climbs in bed with me and I flip the TV on. She usually brings a baby or Mickey Mouse or something and plays quietly with them, reads books and watches TV. After about an hour, I get up with her and get her some breakfast. Usually she is off to the swings and trampoline after that!

The big spring break excitement yesterday was a follow up with Dr. Pai, our local geneticist. (yes, sarcasm) Ayden Jane was excited to go see him, even though I'm not sure she actually remembered who he is. She just finds the doctors we see and places we go adventures. It's a good thing, and I hope it lasts a long time! Dr. Pai is about a 2 hr. drive and mostly we go so he can follow AJ's progress and just keep up with what we are doing. Ayden Jane did great but on the way home wanted to know why they didn't take any of her blood! She was a bit upset with them, like she thought they forgot or something! The only big news from Dr. Pai is that AJ is officially pws/upd. Not really a surprise, but good to have confirmed I guess.

Peace

Well, maybe I should say relative calm. We are coming up on 2 years post diagnosis. Year one was a blur of late night research, therapy, worrying, explaining to all those close to us, searching for doctors and answers... basically trying to catch up. It was exhausting!

Year 2 turned to doing. Advocating, going to conferences, participating in studies, fundraising, beginning the uncomfortable switch from asking questions of other parents on this journey to answering some questions. Exhausting, but very hopeful and positive.

Somehow, the sibling study seems to have been a sort of culmination of the PWS time spent. The trip affirmed what we are doing and how Ayden Jane is doing. It has given me confidence that the path I chose in feeding and caring for AJ really is the right path. That probably sounds strange, but I think sometimes I get so caught up in working hard each day that I miss the big picture. I tend to focus so much on what we need to work on that I don't 'see' how great AJ is doing. That pressure of making every moment count, every bite count, every opportunity to work a skill... it gets relentless.

I find myself, FINALLY (and likely just for the moment) relaxing a bit. I don't feel the need to explain the details of PWS, or why my kid eats funny, or why we go to speech or horses or PT. I am happy to discuss it, I just don't feel the need. I actually think of AJ as a 3 year old first, then remember she has PWS. I guess I am not entirely obsessed with all things PWS. FINALLY.

Easter Hair Cut

Ayden Jane's hair had gotten quite long. It was cute, but she would only ever leave a pony tail in for a short time. Then as the weather has turned warmer, she started to complain about it being itchy as it stuck to her neck... Not battles I choose to fight all summer! Here is the result.

First up is Easter Morning opening an egg from the bunny himself.

Look Mom! Dark Chocolate!

Here she is at Grandmas House! Pictures were tough to come by as she has decided she is camera shy. Uggg.

I think I love the side even better!

This is just for fun. Spring break is just beginning so there will be a lot of this yet to come!

Several People Have Asked...

Several times it has come up that folks ask me what a typical day of feeding AJ is like. I copied and pasted an answer that I put on the list serve and then made it a bit more complete. I know there are lots of other things I have left out, but hopefully it is a good glimpse into how we eat. Yes, I eat very similar to AJ. She gets that different people need different food to stay healthy. She has friends with allergies... I choose to eat like her, at least when she is awake, because it just feels right to me. I do not ask my other kids to follow suit. She knows that they eat bread and occasionally drink sweet tea. She sat one morning in the midst of Noah and his friends chowing down cinnamon rolls and enjoyed her avocado without a care in the world. That it is okay for them because their bodies work okay with those foods. She knows that those foods do not make her feel good or grow big and strong. So far she is totally okay with that. I know that this is bound to change as she gets older, but we are sticking with it as long as possible!

An example day for AJ would be:

Breakfast about 8 after we drop the big kids at school.

2 scrambled eggs, applesauce or yogurt (to mix her supplements in), 4-6 oz. of almond milk (she does not tolerate cows milk well) Sometimes she is still hungry and eats a few almonds on the way to school.

Snack at school around 10

I send a plastic cup each day with her snack. I put in about a 1/2 cup mixture of almonds, walnuts and blueberries. Water to drink at school. Sometimes I surprise her with a bit of dark chocolate. Other snacks that have worked well are hard boiled eggs or grain free mini muffins to go with her nuts.

Lunch after school about 12:30

1/2 sliced chicken breast with almond butter (that's how she likes it), Clementine orange, 1/2 an avocado. Almond milk or water. If we are out to eat we let her have unsweet tea or a bit of diet soda. So far these have not bothered her.

Snack after nap 3:30 or so.

Nuts, greek yogurt with a bit of honey and cinnamon, tomatoes, apples with almond butter are a few of her favorites.

Dinner whenever we get to it! Too many sports activities in our house for a real time. Often we eat really early at about 4 and AJ just waits, eats dinner with us and has the snack at the game.

AJ eats whatever we do for supper with the exception of any breads, pastas... For example when we have tacos, AJ eats meat, tomatoes and lettuce out of a bowl with a spoon. She likes salad so that works with any main course. Sandwiches? She eats the meat and veggies... Occasionally I make 'pigs in a blanket' with the mini sausage. I throw a few in with no bread. You get the idea. Cottage Cheese adds a quick, protein laden side to any meal. If I put a few frozen berries in it AJ thinks it is a huge treat!

Somewhere throughout the day while we are on the run she usually goes through more nuts (pistachios are great at ball games and for strong fingers) and a hard boiled egg white. With older siblings we spend several nights a week at sporting events. Concession stand food is AWFUL, but we when we are just not prepared,boiled peanuts it is!

Honestly, the best thing I did to get used to thinking grain free/sugar free/processed food free was to force myself to do it for a bit. I became MUCH more creative when motivated to satisfy my own cravings! Once used to changing how you think about food it is really not so hard. I don't really focus on calories, just quality. I know what foods hold great nutritional value and that's what we try to eat. If you really look into the nutritional value of grains you will see we just don't really need them. We need protein and good fats. We can get enough carbs and fiber just fine from vegetables and fruit. We try to eat real food, shop the outside of the grocery store and think about our choices when out to eat. For example the last place to look for a meal for AJ is on the kids menu!

There are lots of creative people out there with great cooking skills that eat this way much better than we do. I wish I were a good cook and was creative with preparing vegetables. I am allergic to seafood and it just makes not want to be anywhere near a fish. Both would be great. Ahh to be artful with grilling, searing and all the other meat preparations that don't require breading or frying. One day, when I grow up I will learn to cook. Maybe AJ and I can learn together.

Things Come and Things Go

Almost as mysteriously as Ayden Jane's issues came the past couple of days, they have gone. It is truly bizarre. Yesterday morning was the last of the 'episodes'. We were at the tire shop (whole other story!) and AJ was happy and funny and climbing all over me in the waiting room. 10 min. into climbing on me and spinning around and just being a 3 year old she wandered over, sat in the chair turned pale grey and fell 'asleep'. Asleep is the only word I know to use, but those with PWS kids know the sort of 'sleep' I am referring to. The sudden so asleep that bombs could go off around and they still could not become alert. She was sweaty and clammy (in the air conditioning). She came out of it in about 20 min or so and that was the end of it....

So strange. It was the 3rd time in 24 hours! By yesterday afternoon, after she ate a great lunch and took her usual short nap, she decided to head outside to play. She bounced and swung and rode her bike, no crash. Gary took her swimming and she did fall asleep on the way home, but the normal, I swam hard sort of sleep. Then she played up at the soccer field for 2 hours with not overheating... WEIRD.

So, it seems to have gone as quickly as it came. I asked Dr. Miller about it and she mentioned the possibility that her cortisol response to the illness was delayed. Here is what she had to offer on the matter:

If the cortisol response is occuring now, then it will cause high blood sugar (which will make her feel nauseated and not want to eat). It may also cause her blood sugar to be abnormal with exercise, which could explain the temperature thing.

I mentioned this to our PT, Jen and she said that it would totally fit what she has seen in her 'mito and metabolic kids' and definitely describe the puddle of mush that melted in her arms on Wed. Crazy PWS.

Yuck

Ayden Jane is struggling getting back to her old self after being sick. All in all she ran fever for about 6 days and I'd say 3 of them ran in the 103-104 ranges. She is on anti biotic to get rid of the rest of the crud inside of her, but we are having two big problems.

1. She cannot seem to reset her thermostat. 3 times now in the past 24 hours she has been running around playing and completely overheats. She then turns pale, beyond pale, and turns to mush (I know that's not a very scientific term, but it is a perfect description) It happened with her PT yesterday. Ran out to greet her was doing great, rode her bike a few minutes and then started to become pale and stare... Came inside and she fell asleep while working on the exercise ball! Her skin is warm and sweaty, but she just doesn't really cool down. She falls asleep at this point no matter what you try to do with her. It is like going back to infancy with temp. We are planning on a swim this afternoon. It is an indoor pool that she could last about 20 min. in during the winter before she was too cold.

2. She says she is hungry, eats 1 or 2 bites and asks to save it for later or wants to throw it away. She will eat fruit and the mixture of avacado and greek yogurt that she loves. Other than that, I make her eat a few more bits of chicken... but have been leaving it at that. She MIGHT be eating half or her usual. She even refused to finish almonds and pistachios! She has been eating this amount for 9 days since she got sick.

It is so hard not to panic when these sorts of things happen. I know in my head that her 'thermostat' will likely reset, but I also know that what is going on is actually very common in PWS. What if we just triggered it and it is here to stay? It is so hard to watch her go from so happy and full of life and then just melt into a pale puddle of mush.

Apparently, you can run but you cannot hide from PWS.

Busy Family/Noah is 16!

Yesterday was Noah's 16th birthday. He is such a great kid and a fabulous big brother. We did not do too much to celebrate as it is a CRAZY week around here. He had a soccer game last night so we went out to KFC at his request for supper. I know, exciting. We will get to a more formal celebration in the weeks to come.

So, I said it is crazy busy. It is the week leading up to spring break so there are lots of projects... on my kids plates. Kayla is off visiting Clemson today with Gary and soccer continues on. Ayden Jane is doing her best to rebound after being sick, and had pictures and an easter egg hunt at school today.

Kayla and Noah are taking a spring break trip together. It is really great that they enjoy each other enough to decide to just go road trip together. They will be heading out on a grand adventure on Friday to visit friends of ours in FL and surf. It is a long drive, so there is the mom part of me that is a bit concerned for their safety on 95, but I know that it will be a trip they will always remember as they make their way together to places they have never been before. Kayla has already informed Noah that he will be going over flash cards with her as they drive because she has her AP exams when they get back. Yep. They are a wild pair!

AJ is Sick

We have been very lucky with Ayden Jane. She has been sick only 2? times before. They were pretty standard day of fever, yucky nose and better. One time required and antibiotic, but jsut because it hung around so long. Not this time.

Ayden Jane has been miserable. She was a bit congested after our trip, and then by Wed. she started running fever. Yuck. Friday night it pushed the 104 mark and she was working really hard to breath until the medicine brought it back down. Saturday night was similar, but not quite as bad. By Sunday night the fever broke. She woke this morning with no fever and I thought I would wait until Tue. to see if she was going to clear up. Plan changed when by 11 the fever was coming back (now working on 6 days of fever), she started a pitiful cough that was obviously NOT going to clear anything. We are now on an antibiotic and hopefully the road to recovery.

Lessons learned? Ayden Jane gets sick like a typical kid. That doesn't seem like saying much, but it is actually a huge relief. Some kids with PWS don't fight back against illness well and by the time the fever or aches and pains of being sick show, they are already down the road to really sick. I have heard stories of parents taking their kid in with a mild fever and 'acting a bit off' as the only symptoms and they discover the beginnings of pneumonia or double ear infections raging... So, as miserable as a week of being sick has been, I will take it a blessing that she was sick just like my others get sick.

Now, the not so normal things. She takes FOREVER to respond to fever reducers. It was close to an hour before the meds would begin to cool her off. It was no more than 20 min. for my others. I guess there is something to the idea that PWS can cause them to metabolize medication a bit more slowly. She also cools from the feet up. If you think that sounds crazy you should feel it! The night of her 104 temp. I gave her meds and kept checking to see if she was cooling down. I first found that her feet were cool. A bit later, her legs were also cool, all the while the top half of her was still like fire to the touch. Her belly and back came next followed by her head then her arms. Weird huh? If there had been a way to take her bottom half temp and top half temp, the bottom would have been normal and the top still well over 100.

I will get to more on the sibling study once she is no longer attached to me like velcro and I get things cleaned up around here!

Mckenna

As part of the sibling study, blood work was done on Kayla and Mckenna as well. It uncovered Mckenna's under active thyroid. Lab values are to be under 4.2 (although Dr. Miller says she like them to be more like under 3.5). Mckenna's were 7.3 something! Yikes!

My first thought was, "how can she function?" Of course my next thought was, "how did I not notice?" There were lots of little signs that all make sense now... Last school year she was less than thrilled with school. She really did not eat well and I started her on carnation instant breakfast to get something in her before school. It was the only thing the kid would eat in the morning. She would say she was hungry and then eat 3 bites. I felt sure AJ ate more than her! She was tired a fair amount, but we are really busy as a family.... It didn't seem excessively tired. She tended to be less confident and much more timid than she once was. She was easy to cry at times. I figured all a part of growing up. We would randomly hear of headache or stomach ache, but not a lot. There were days she was, well, less than spry on the soccer field.

In contrast. We are one week into medication and what strikes me most is that Mckenna is happy! She has great color. I had no idea how poor her color was before! She comes home from school and no longer zones out on the sofa to mindless TV before whatever the evening holds. She is smiley and bouncy and you can tell she just feels better. She tore up the soccer field today! She is quicker and has better endurance already. She is excited to see what she can do when she adjusts to the new her.

She is still adjusting, but she is loving the new her. Or is that the return of the old her? We really thought that a lot of the change was a bit of a delayed reaction to AJ's birth, struggles and diagnosis. I do think those things affected her, but I wonder where along the 2nd to 3rd grade stretch where she changed so much this started.

Yes, we are keeping an eye on AJ as well for the same thing. So far her values are within normal limits, but hypothyroid runs in our family so...

New Stuff

I will continue to update on the Sibling Study things as they come. It occurred to me, though, that Ayden Jane is learning a lot of new things right now and putting together pieces she has been working on for a while.

While at the study, Dr. Miller played with her and AJ showed she has all her colors and shapes down. She was identifying letters (she knows probably 1/2 of them with confidence). She is counting to 20 and totally gets the concept of counting. She gets lost if trying to count too many items, but you can ask her how many of something she has up to 5 or so and she will nail it 9 times out of ten. She has a GREAT vocabulary and her articulation must be improving because I did very little translating while I was there. She has gotten very good at using words when she is upset instead of just crying or yelling. She uses angry, sad, happy, frustrated, sleepy, hungry, ornery, itchy, hurt, scared and probably more than I can think of right now to describe how she is feeling. She wanted to do the MRI all by herself so we settled her in with Mickey Mouse. She went into the 'tube' and was still okay, but when the noise started she began to whimper, "I getting a little scared." She was great though. We stopped and I came in and lay with her (well, with the bottom half of her) and she tried again. This time we did the 5 little ducks story from memory and she fell asleep. (sorry for the tangent)

This morning I asked her to spell her name. Out popped, "A Y D E N"! Now writing it is a whole other story.

On the gross motor side, this spring she has conquered swinging by herself and pedaling a bike. I found her half way up a palmetto tree (like a palm tree but with lattice type bark) so I guess she is also climbing trees! I am not sure what else a 3 year should be doing although I am very ready to get her back in the swimming pool. Just a little longer for that water to warm up.

All in all, I think she can do pretty much everything she should be able to but maybe with a bit poorer quality. I will take it!

Sibling Study Part 3 - Genetics

As part of the study I was interviewed by Dr. Driscol, a geneticist, about Ayden Jane. He was particularly interested in her first year and feeding and her ability to know when she is hungry and full... After that part was complete, I had the opportunity to ask him questions about the genetics of PWS. I am the typical self taught parent. You know, enough knowledge to be dangerous. Actually, I think I had a great knowledge of pieces of the genetics, but it was awesome to get to connect the dots and fill in the missing pieces.

I asked Dr. Driscol straight up what his thoughts were as to why Ayden Jane seems more mildly affected by PWS than others that I know. On one hand I feel like I shouldn't dwell on that and I should just be thankful. On the other, my heart wants the same for the other little ones I have met. I don't want that to sound like I think the others are less in any way. They all have an incredible spirit that I wish was evident in a lot of 'typical' kids I know. They are endearing little ones that I could just scoop up and squeeze! I love reading about the accomplishments and it is like living that amazing feeling of triumph we had each time AJ conquered a new skill.

His answer? Well, I will skip the genetics lesson to keep you from falling asleep at the computer. (Of course, I find I am a bit of a junkie for this stuff and could have continued my lesson indefinitely) He feels that most likely AJ's good fortune lies in the rest of her genetics. (barring some unexpected result in the micro array) She just has the luck of the draw for great genes to overcome the missing genetic material. That's the positive way to look at it. There is a hard part I try not to think about. Likely the fact that she is average IQ means that she would have likely been gifted. The fact that she is doing so well with motor skills means she likely would have been a gifted athlete. It brings fresh the feelings of loss. Loss of the child that AJ could have been but I will never meet. It truly feels like a piece or our family is missing somehow. I have not experienced a miscarriage, but in my mind it would be a similar feeling, losing someone you never had the opportunity to meet. I can honestly say though, that I am now to the point that as much as my heart aches from the loss, I would not trade our Ayden Jane for a less PWS model. Her struggles have made her who she is and have made our family, a family of better people.

Sibling Study Part 2 - diet

Well, I am a bit of a rebel when it comes to feeding Ayden Jane. The standard approach in PWS is to count calories and watch weight gain/growth to determine how to adjust them. I have chosen a different path. (I know I am not alone, but at times it feels like it) I choose to feed Ayden Jane a nutrient dense/grain free diet. She eats things that her body can use for growth and energy and .... What does this mean on a daily basis? I skip all grains (bread, crackers, cereal, pretzels, pasta) and junk food (sweets, chips...). She eats lots of meat, fruit, vegetables, nuts, eggs, yogurt, avocado... It is sort of like the paleo diet, but just Ayden Jane style. Now, I also have a great sense of what a portion size should be for AJ so I would not say that she eats limitless amounts of food.

So how did it hold up? I turned in her 3 day eating log and AJ is eating about 1500 calories per day. I didn't really know if this was high or low so I looked it up. According to what I found which was just a quick google search, AJ is eating as many or more calories per day as is recommended for a typical child her age. Dr. Miller and Dr. Driscol think she looks great and are happy with her BMI.

Her diet actually looked a bit lower in protein than Dr. Miller really wanted to see. I am not too concerned about it though because I know that we were on the go and AJ had quite a bit more fruit than usual and missed some of the good protein she would have gotten at home. Dr. Miller agreed and just said that she can handle a few extra calories so make them protein. To me that means when I serve up her protein during the day I will just increase each portion size a bit.

AJ also meets and in some cases greatly exceeds all the RDA allowances of vitamins and minerals for her age. That's before her multivitamin. Basically, we should all eat like AJ.

Sibling Study Part 1

This will be part 1 of I have no idea how many. We packed in so much in 2 days down there it will take me weeks to process it all. Not to mention recover on my sleep!

So, what happens at the sibling study? You check into the clinical research center, which is basically checking into a hospital. After the mountains of paperwork are signed, you don't stop until the next afternoon! Of course, we were a bit busier than most since I brought 2 siblings. That meant that each scan, test... had to be done 3 times instead of just 2. It just made sense, though, to have 2 sets of data to compare with AJ as long as we were coming. At one point we were going to bring Noah as well. I can honestly say I have no idea how we would have finished with all 3. Likely we would have just had to do 1 of the kids cognitive/learning style... testing after discharge or independently on the next day.

I think the big kids enjoyed, or at least did not mind, the scans and questions and cognitive stuff. They were really interested in everything and learned a lot while they were there. The only test that was hard on them was the 2 hr. glucose test. You know the one, fast all night, drink nasty sweet stuff and then allow your body to completely crash before you can eat again. It was hardest on Mckenna.

The good news about the glucose test is that although AJ crashed very quickly, she did not bottom out like she used to. She has had a heavy sugar load on once or twice and the results were scary. She just became listless an had a really hard time getting herself straight again. This time she did crash faster than the others, but she pulled out of it. It was like by the time the first hr. was done, she had already gotten better. That is a huge relief to me. I feel like now if she does get a hold of something, although it won't be great, she will handle it. (I do have to say though, that today is the first day I have ever seen her sort of crave carbs.) Really odd. Mckenna on the other hand, just got worse for the 2 hours. Kayla tolerated it very well.

So much more to say, but it will have to wait. My brain is no longer functioning.

Heading Off To Florida

We leave tomorrow for the PWS sibling study. I am so proud of my kids for heading into this with such great attitudes. Noah is not able to attend, thanks to the ACT and 2 soccer games he would miss. Yes, in just the 3 days we will be gone! Kayla and Mckenna are all in and willing to do whatever the study needs. Not a complaint to be heard.

None of us are looking forward to traveling with AJ. She NEVER stops talking in the car. Okay, NEVER stops questioning. She has been getting into reading books on her own lately, so that is good. And yes, by reading I mean looking at them and saying whatever comes to her mind about the pages. I actually wish she would watch a movie! The kid just does not care about video for more than 20 min. ever. Anyway, it is 7 hrs of driving, but we are not leaving until about 2. Yes, that is intentional as she will have had school and PT. She should be ready for a good nap so hopefully she will sleep an hour or two of the trip at least!

It will be an adventure for all of us. Wish us luck!

Blood Work

So this morning Gary, Ayden Jane and I went up to the hospital to have the blood drawn and sent out for genetic testing. Remember, yesterday I spent a good couple of hours working on all the precertification stuff. When I left, they had us preregistered, the fax number as to where to send for prior authorization and my phone number if there were any questions or anything else I needed to do. I tried to call late in the day but could not get through...

We were greeted this morning with, well, it looks like they did not fax the precertification paperwork because the lab work is being sent out. HELLO????!!!!! You are the exact person I sat in front of for 2 hours yesterday getting this straight! 'S' sent the paperwork to the department that precertifies... that department decided blah, blah, and S did not follow up as she assured me she would!!! She suggested we not do the blood draw today and we call Greenwood Genetics, the lab doing the testing and get them to do it. Hello? You have the lab orders from Dr. Pai in front of you get up off your ______ and fax them to the number I gave you yesterday after getting off the phone with them in front of you!!!! I told her there was no option. We had everything including courier service set up for today so she needed to fax those papers right now whether it was technically her job description or not. Her response? Oh, I guess I could do that. (with a tone much like eeyore)

Honestly, I have my doubts that the testing we are having done will be covered anyway so we just went ahead with it. We will see how it all comes out in the end.

AJ on the other hand, was hilarious. We told her we were there to 'give blood'. So every time we got up to do paper work, sit in a new waiting area... whatever, AJ skipped along saying LOUDLY, they gonna get my blood now? She now has great veins and is an easy stick! Not a whimper out of her and she was thrilled that she could get stickers after.

All that's left now is for mom to scramble and attempt to get the paperwork in order before the blood gets to greenwood!

Time

Where does my time go? Well, as a parent, time just seems to evaporate. As a parent of a kid with medical needs, a LOT of time goes into therapy, doctors appointments and the general category of, it just takes longer to get anything done. The one that drives me nuts though, is the amount of time on the phone and doing paperwork for insurance. Don't get me wrong, I am thrilled that we have insurance. I do not know how we would pay for all things AJ without it, but it never ceases to amaze me the long process it takes to get things covered by the insurance. The amount of time on hold, the number of times they suggest to call ________. Sure, I will just pick up the phone, call the doctor, or business office, or lab or.... and get back to you in 2 minutes. Never mind the fact that whatever answer I get will not be the complete answer you need so it will have to be re done!

Today, I gave up on the idea of using the phone. We need genetic testing completed. Now, it is ordered by a Dr. 2 hours away, the blood will be drawn at our local hospital and sent to Greenwood Genetics. Sound simple? It took a trip to the business office to get confirmed that the hospital accepts our insurance, sent next to the lab, who sent us to registration. Registration needed paperwork from the lab so they had to go find it. I chose to wait, in person, not on a phone call.... In the end, I needed things precertified which was another phone call (and 10 miles) and fax away that they said they would handle. Do I trust them? Well, I will do my best to get through this afternoon... either way, we are doing the testing in the morning so that Wed. we can leave for the study in FL. It may end up costing us, but we have just decided the study is worth it.

Ugg. Okay, so that rant is over for now.

On another note, I have to say that now we are far enough into this journey to be able to look back. (just about 2 years since diagnosis) It is a wonderful view. When I look back I don't see the frustrating phone calls and paperwork, just the slow steady progress of one little Ayden Jane. The emerging of her personality. The accomplishments we were not sure would happen. The courageous little one that has worked hard with an amazing little independent spirit. The landscape of Drs. and therapists don't look so medical. They have become trusted friends who share in the beautiful story of AJ. Our perspective on many things has changed and the passing of time has in some ways been a blessing. The short look back was so overshadowed by the huge challenges of year one. The longer view now, is much prettier.