Rescued by a Gila Monster……and the creativity of scientists. (we hope!)

The magnitude of this story is perfectly stated by a friend
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….“I think life sometimes is measured in moments.  you are born in a moment, you die in a moment, you can fall in love in a moment.  everything can change in a moment.  most of our strongest memories are really moments frozen in time, good and bad.
for you, perhaps, this was one of those moments. maybe everything changed.”

Thursday, March 13 was that moment.

Katie and I sat nervously in the office of the endocrinologist. She had just been weighed, so she was quite disappointed and disgruntled before trying to pull herself up and onto the exam table. That is never an easy feat. She tried to step onto the narrow shelf that pretends to be a step stool to the table. Facing the table, she lifted one foot onto the step, lost her balance, grabbed hold of the table and tried to turn around to plop her behind on the table, but was unwilling to move either of her feet. I had her step down, turn around, hold onto me and lift her foot up behind her to step onto the step so she could then, just sit down. I imagine reading all of that was as tedious for you as living through it is for me. This is a routine we do with each appointment. Finally, she was situated, I settled into a chair next to the exam table and coached Katie to look at the doctor when he speaks to her and to answer his questions. Usually she sits and cries. Which is understandable. Every time we leave the office I feel as if I am the most incompetent mother to have ever walked the planet. Endocrinology appointments are not our favorite thing. Our exercise log is accepted with extreme skepticism, her blood sugars are way out of control, and we feel like there is nothing we do that is right.

March 13th changed all of that.

When the exam room door opened a doctor we had never seen before entered the room, introduced himself and by his actions and words it was obvious that he had already studied Katie’s case. He reviewed her A1C levels and smilingly told us that he was pleased that they had remained so steady, that it was much lower than when she was referred to them. There was no change in the number that day than the previous three visits, but the attitude of the two different doctors was like night and day. I wanted to bow down and kiss the man’s feet at that moment, not only for not berating us, but for praising us, which was a first. He looked at her exercise record and said she was doing a great job at being active. Then the moment came. The moment that quite possibly made everything change. His next words were.

“You are doing everything you can do, what needs to be done is to take off some of the weight,  but the Prader-Willi complicates it all, I think I can help with that. I would like to try, if you are willing, some different medications, we will keep her on her insulin and start her on a pill and a weekly injection, her blood sugars should improve, we will be able to lower her insulin and get her off of some of the insulin eventually. Maybe by the end of the year she will need no more insulin. The injection given once a week is Bydureon, some people find that there is a decrease in appetite with it, with the Prader-Willi we don’t know what the effect will be.”

My mind:  WHAT!!!!?????   A decrease in appetite!? gulp, puke, sob, sob, sob, CAN THIS BE POSSIBLE?! don’t fall apart Anne—ask rational questions!

Me: Is that like Byetta? I have read about Byetta’s possible effects on appetite with Prader-Willi.

Dr.: Yes, the same family of,  it is a weekly form of exenatide.

Me: Yes, we would love to try it.

My mind:  sorry, mind went blank here, swirling with the enormity of the possibility of the radical changes this could mean for her.

NO HUNGER! What a wild thought. No grinding of her teeth all night long as she dreams she is eating, no sneaking cheese or pancakes or pizza into her pocket when I blink, NO HUNGER……or even the idea of decreased hunger would be acceptable and welcome. Acceptable and welcome, what a silly phrase for me to use when basically my entire being is shouting, “Oh my God, Praise the Lord, let this really work, Yes, Yes, Yes!!! ”

We listened to the instructions, I made sure much of it was written down, I knew my reeling brain was not absorbing anything other than the possibility of decreased hunger.

We walked out of the office giggling with delight.

As we drove home I told Katie that she needed to really work out and keep good records of food intake, insulin amounts, and blood sugars. I also stated that it will be interesting to know if she feels any different when she is on the new medicine. I told her to let me know if she feels anything different.

Here’s a thought.

If a person has never had the feeling of satiety, will one know what it is if it happens? If one has not experienced something before how do you know it, recognize it for what it is if it does happen?

Here’s the condensed nutshell, please read the attached links to have your mind completely blown, but the basic nutshell is this, a doctor found out that the spit of Gila Monsters affects blood sugar. Some other people found out that injecting this into folks with PWS showed a decrease in their appetite. Now, you and I would think that news should automatically be shouted from the mountaintops, but scientific types thought that the study was too limited to have any real worth. Fortunately, other people are continuing to study this and more fortunately there is a doctor in Rock Island, Illinois who knows all these things and has possibly changed our lives forever.

For weeks I found myself weeping at random moments at the thought of what this could mean for Katie’s life, for my life, for the lives of everyone, everywhere affected by PWS. I tried to tell people who deserved to know the excitement. People who always, sincerely inquire after her well-being. People who love her.  Mostly, all I could do was bawl, I would start out by telling them I had news about Katie, then I would break down. I probably scared the crap out of them. Some I never even told, because the enormity was simply too overwhelming. For those of you to whom I said, “wait until my next blog post”. This is the post you have been waiting for. Read it and weep!

Here is an aside to all PWS parents. I want you to know some of the things these people said to me. To let you know that there truly are people who “get it”.

*This is HUGE!

*I can’t even imagine the changes this will make in your lives.

*sob-she won’t be hungry?-sob-sob-sob

*oh, Anne -hug

* Monster to the rescue…Does that mean there are now gila monster farms, like chicken farms? (I know, not quite showing the enormity, but shows that a sense of humor has always been appreciated by me.)

*I’m very happy for you. And hopeful.

*I do grasp it, and that is incredible news!
*wow, just think what this means
*I never thought we’d see it.
*nothing…..nothing could be better news
With all of the focus on obesity these days, I feel like it is a boon for PWS. Researchers are paying attention to us and wanting to know more about the inner workings of satiety vs. hunger. It has given me hope that someday Katie would benefit from their intelligence and studies. I honestly did not expect it to happen during my lifetime, but I had hopes that it would be in Katie’s lifetime. We still don’t know exactly how much affect it has on hunger. I still watch her chewing in her sleep. Her pockets still show signs of pilfered food. Her need to know what will be eaten at the next meal and the time of said meal has remained the same. What has changed is this, after being on this regime for five weeks her blood sugars had decreased dramatically and she lost NINE pounds. She continues to lose weight and her blood sugars are doing well with very small amounts of insulin.
I am not a scientist, but revere them greatly and think our society is screwed up with its worship of entertainers and athletes. Give me a scientist any day of the week. I might not understand what they are talking about, but I would love to listen to their thought processes and probe them with questions.

My utmost respect and gratitude goes out to the Gila Monster, Dr. John Eng, and Dr. Rameshkumar Raman.

CAVEAT: This might not prove to be the total solution, but the fact that this discovery has been made certainly gives me  hope that more and greater discoveries are on the horizon.

~”It really is a beautiful lizard,” Eng said. “Like many other animal species it is under pressure from development and other environmental concerns. “The question is, what other animal has something to teach us that can be of future value? And plants, too? We will never know their value if they are gone.”

http://legacy.utsandiego.com/news/business/20050429-9999-1b29amylin.html

http://www.ncbi.nlm.nih.gov/pubmed/21632815

http://www.pwsausa.org/research/provigil.htm

http://www.healio.com/endocrinology/pediatric-endocrinology/news/print/endocrine-today/%7Bdda4e2f5-5107-4bd2-838b-614ce5c41c39%7D/exenatide-may-increase-satiety-in-adults-with-prader-willi-syndrome

http://public.ukcrn.org.uk/search/StudyDetail.aspx?StudyID=11280

http://clinicaltrials.gov/ct2/show/NCT01444898

http://www.rdshp.org/research.php

http://www.nytimes.com/2014/01/15/health/seeking-clues-to-obesity-in-rare-hunger-disorder.html

 

 

 

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If She Can Do It, So Can You!

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In our society you do not need a calendar to know what season it is. If you listen to the conversations around you it will be evident. During the summer the talk is of  bikini-ready bodies, flip-flops and suntan lotion. September brings freshly sharpened Ticonderogas, football games and Homecomings. Food, food and more food starting at Halloween and gracing every table, desk and counter-top through New Year’s at which time, for the next three months or for as long as their resolutions last, you cannot be near more than two people without one of them mentioning new exercise routines, diet recipes and how on earth they will ever survive their new weight loss regime.

Each of these seasons presents challenges to everyone, especially those living with Prader-Willi Syndrome. For anyone  who is not familiar, I will hop on my soapbox for a moment and explain a few of the PWS basics that affect Katie. One:  uncontrollable appetite due to non-stop hunger; an ever-present feeling of insatiability, yeah, you only think you have that. Now, pause for a moment and delve into your memory to the last time you felt real, physical hunger and imagine that as a constant during wakefulness and sleep. Two: low metabolism causing the utilization of fewer calories. By fewer, I will tell you the results of a metabolic test that she had done once showed us that her body needs only 880 calories a day to maintain. Three: Decreased muscle tone, this is what I fault for her lack of balance and coordination although that might simply be because she is the daughter of the clutziest woman on earth. Four: Back pain due to scoliosis. Now that you have had a crash course on a few of the reasons weight loss and dieting can prove to be problematic for Katie you will better understand how awesome she is.

Katie and I have joined a local Biggest Loser Contest, we are a part of 50 contestants. Although we are competing against each other every week for 3 months, I wanted to write that we are a part of a 50 member team. Through the encouragement of Josh, our “head coach” everyone is supportive of one another, we are all in this together with a common goal. I would be happy to not win any of the $50 entry fee if I could just drop some of this weight. I listen to the struggles and the plans and the confidence, or some days lack of confidence of the others and I think it is amazing to see their dedication and their strength. I know that we all come into this with our own baggage, both physical and mental baggage, but then I think of Katie, who has these extra challenges that are innate. I have the privilege of watching; her concentration as she (oh, I forgot to mention the need for insulin four times a day due to a secondary diagnosis of diabetes) calculates her carbohydrates, her calories and her insulin, her determination as she vigorously works out during a water exercise class, her perseverance as she starts her third quarter of a mile during lap swimming, her exuberance during a rockin’ Wii Just Dance session, her stupendous awesomeness while participating in and completing two 5K s. I have included photos of those incredible days. The first year that she was in a 5K was a bitter cold day, after the start off, she was alone behind the rest of the participants and from the sidelines I tried to encourage her to cut through a parking lot thereby eliminating the one and only hill portion of the race, she vehemently refused and said that she had to stay on course because she had a chip in her shoe! You will find her name next to the entry of the word integrity in the dictionary. She plodded along, down hill and up, in one of the pictures in the attached link, you will see a woman wearing the number 41. She is a total stranger who after finishing the race, ran back to the half way point to walk alongside Katie during the rest of the race. Please take special note of the time clocks in the photos, you will see that in her second race, the one with much nicer weather, she got a new PR beating her time from the previous year.

If you are one of our Biggest Loser competitors, anytime that you get discouraged or think that it is too difficult or you are faltering I want you to think of my remarkable daughter who is in this with you. If she can do it, so can you!…. So can I!

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