Tuesday, August 30, 2016

What Does Histamine (H3R) Have to do with it?

When October arrives our Ayden Jane turns 9!! Can you believe it? What a wild rollercoaster ride she has taken us on over the years. She entered the world a frail, weak little mystery; too weak to eat, or move, or even respond. I never could have imagined at that time as I sat by her side waiting for her to “wake up”, hidden inside that beautiful, motionless little baby was a determination and strong will like I have never seen.

She has lived a life of hard work, therapies, dietary restrictions, doctor’s appointments, blood draws, shots and much more, but she does it all with no complaints and a smile (most of the time).  She worked to learn to crawl, walk, run, read, write (still working hard on that one), play sports, learn social skills … the list goes on. 

She still has gaps in her ability to operate in a fast paced world. Everything takes more effort for her than for other kids and just getting through the day can be exhausting. Even sleep is a bit off for kids with PWS. Every part of their day and night is affected.

Even as I write this, waiting for supper to come out of the oven, Ayden Jane is napping. Naps had all but disappeared over the summer but with the return of school, she is tired. It takes so much out of her to keep up all day long. If only things could come easier! 

So what if they discovered a receptor in the brain that effected things that lined up almost precisely with the host of symptoms of Prader Willi Syndrome.

I introduce you to the Histamine 3 receptor and the drug that has already been developed and approved for Narcolepsy in Europe – Pitolisant. The link below describes the science for those who enjoy that. 


In Ayden Jane's short lifetime new ideas have made a big change in what is possible for people with Prader Willi Syndrome. I am hopeful that Pitolisant will level the playing field for Ayden Jane and allow her to not just 'keep up' with her peers but do so without giving every ounce of effort she has to give. I am hopeful it will allow Ayden Jane to enjoy the ride more often and even to excel in some areas. I am hopeful this will allow me to see what Ayden Jane would be like without Prader Willi Syndrome.

Wednesday, August 24, 2016

Third Grade Day 6

As far as I know, Ayden Jane is doing well in 3rd grade. The first week started on a Wednesday so she had just 3 days. She handled it well and didn't seem too worn out. Of course, then she went into the weekend by going to the sleepover on Friday night...

This week is her first full week, and by full I mean FULL. She went into it a little tired still from the weekend. Then Monday she had soccer practice. She is still new to that so it's a lot. Then Tuesday she had friend over and played late.... By the time she had her homework done and was showered it was after 9.

Today is Wednesday and wow did it catch up to her. She really just needed a nap, but would not cave on that. In the end, she did all she could do and was in full meltdown and asleep by 6:30.

It is going to be a challenging balance this year. School, homework, after school activities and good old hang out fun. Ayden Jane wants to do everything ... but really cannot function when she gets too tired. It's tricky. She will push herself to the brink - and then dump on me.

Meanwhile, I am feeling like the slack mom. I screwed up some communication and Ayden Jane will miss a couple doses of gh just as she is trying so hard to adjust to the new busy schedule. ugh!! It should get here tomorrow. Just makes me so sad/frustrated that I didn't keep track of the details so that this happened. I know it sounds like no big deal. Okay, I know it really is no big deal, but somehow it just hits really hard. Pretty much all of Ayden Jane's meds, supplements, diet, PT, OT, exercise .... is my responsibility and I know each little piece adds up.

Here's hoping that she has a great nights sleep and tomorrow goes better.

Saturday, August 20, 2016

Third Grade

First day of third grade!! It was an interesting start to the school year. I took a last minute job to fill in for a friend who is unable to start the school year so I was not even able to take Ayden Jane to school on her first day.

Gary took this quick picture of our girl all ready to take on third grade. It sounds like all is well so far and she is doing great.

She also had her first slumber party at her friends house this weekend. They went over to a pool and played. The parents were ordering pizza so I told them I would bring some of Ayden Jane's pizza over for her to eat about the same time. When I came in, Ayden Jane saw me and asked, "mom, what are you doing here? You don't have to pick me up you know. I'm spending the night."

She wanted to handle this one all on her own and did not want mom around to cramp her style.

I did stay a bit to chat with MY friends but not too long.

Later I stopped by to give the gh shot to her. I tried to get her to slip off the sofa where the girls were just starting a movie so we could do it quick in the other room. Ayden Jane was not interested in that. She wanted me to come to her and just get it over with. So, on a sofa with 4 girls she pulled out her thigh and I gave her the shot. One of the girls eyes were so wide I thought they might pop right out of her head! As I left the room, there was lots of what was that?! Ayden Jane just said, "it's my shot I do at night. It's fine. It doesn't hurt." That was the end of it.

We treat Ayden Jane's PWS as no big deal. The supplements, the oils, the shot... it's just a part of life. She has totally adopted that same attitude but she has no idea that all she does is slightly shocking to others. Not that it would slow her down anyway....

Saturday, August 13, 2016


I did not think it was possible for things to get even more busy! But I think they have.

So, Ayden Jane has had a full week of the increased gh. Her weight has stabilized and I think she is already growing! I am really excited to say that she is still not needing to eat much in the way of snacks. Life, food wise, is just easy right now and I am really enjoying it. I'm sure it won't last.... sigh, but I am smiling and appreciating every "I'm not hungry" and "sure, a blueberry bite is plenty" I hear.

It really struck me at the pool this evening. She has had lots of great summer activity and was enjoying another evening swimming with her friends. Listening to her get along so great. Having compassion to take an extra turn being it. Standing up for herself when necessary. Negotiating a truce between other siblings. Just happy and healthy and confident. 

Hooray for summer!!!

Thursday, August 4, 2016

Oddity Continues

Today was day 4 of maintaining Ayden Jane's weight at a steady place. Good news. We shall see if we maintain it tomorrow as well.

Ayden Jane ate breakfast of a cheese stick, watermelon and a blueberry bite at her wide awake hour of 6 AM. Then she and Gary ran a bunch of errands and they stopped at Dunkin Donuts. Ayden Jane got a bit of sausage and egg... but just a bit.

By the time they came home Ayden Jane was itching to get into action, so even though it was only 11:30 she went ahead and had lunch which was 2 pieces of Cauliflower crust pizza. Sticking to the strange behavior she didn't even ask for anything with it or eat any fruit with lunch. Typically she plans her day around what fruit she gets at each meal because it is her favorite.

She went out into the neighborhood to find some friends to play with for a while and then around 3:30 the neighbors invited her to the beach. They typically eat supper at 6 so I figured they would be gone a couple hours tops. I gave Ayden Jane a Hint water and a chia bar, and offered for her to take a cheese stick and/or nuts. She turned down the extras and told me she'd take the bar if she needed to... Seriously?

She got home at 7:30!! That means she played from 11:30 to 7:30 with a 100 cal. chia bar.

The other odd thing is she told me she was so thirsty she drank her entire Hint water plus a water bottle from the neighbors. I have never before heard the words "I was so thirsty" come out of her mouth.

We will see what her weight says in the morning. Hoping I managed to get a enough in her to maintain her weight or Dr. Miller will not be happy with me... Maybe the extra gh will build a little muscle :)

Tuesday, August 2, 2016

Labs and a Lack of Hunger

We got Ayden Jane's labs back. Most things are fine but a couple things stood out. First of all was her bilirubin was high and her ALP low. Dr. Miller has decided that since all the other liver enzymes are great, she is going to assume it is some form of error or anomaly for now. We will retest in a month.

Secondly, her IGF-1 level shows she definitely needs an increase in gh. It is her first increase in 3-4 years! She was doing great with levels spot on until the 'winter of infection'. Then her IGF1 level spun out of control. We even had to reduce from the 0.8 down to 0.6 for a while and slowly work back up.

We have felt that Ayden Jane was a little off for a while now and lack of gh makes sense for those things. She is a bit low on energy which is definitely commonly an effect of low gh. Napping a bit during the day and needing breaks when playing.

What is not common is that her hunger has pretty much disappeared. She has significantly cut down on breakfast and sometimes skips it all together. She has not needed snacks and even cut back on the meals she is eating. I have let it roll most of the time but she has dropped about 4 pounds in a month and it has not changed.

Now, you'd think I would be doing the happy dance because she is not hungry and losing weight. What more could a PWS momma ask for?? Well, the speed at which she is dropping makes me pretty certain she is losing muscle as well as fat. Not good.

Typically, doctors do not really want to raise gh if a kid is having trouble maintaining weight or is already losing weight. I mean, common sense says it would be hard on a body to power a growth spurt and lose weight at the same time.

Dr. Miller and I talked through it and I have convinced her that this is actually Ayden Jane typical. She used to get scrawny through the shoulders and have trouble maintaining weight when she was little and needed a gh bump. I just haven't seen it in forever!

She agreed to going up to 0.9 but I will be responsible for tracking her eating and weight to make sure she is eating and her weight maintains. So, if we can keep her weight at 83-84 pounds and she grows a bit along with rebuilding some lost muscle... Wow will we be in great shape. My guess is we may need to go up to 1.0 but we can decide that in month when we recheck labs.