Most Exciting Milestone!

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*suck from a special nipple- 5cc at 6 weeks
*lift head from surface while in prone position – 20 weeks 1 day (my birthday!)
*removal of gastrostomy feeding tube -8 months
*chromosomes used in research which successfully resulted in a new method of stretching and staining the bands which means more accurate diagnoses – 1 year
*sit – some of these require that I locate her baby book
*first tooth-
*pull to stand-
*crawl –
*walk – somewhere around 3 years

As I attempt to write about these early milestones, I notice that the milestones most parents fret about must have been inconsequential in the scheme of her life. I have no recollection of when they occurred. As you can see though, I remember the ages she did things that other parents would not know were momentous events. Sucking and neck strength, most of your children had these skills the day they came home from the hospital. Every time I hold a newborn I marvel at the strong neck holding up its heavy head and remember the games and histrionics we performed to encourage Katie to lift hers. Tears well in my eyes when I hear a baby suckle at a breast and my memory turns to the sweet nurse who was brave enough to break through my “I must keep pumping – breast is best” barricade to grant me permission to stop. She had witnessed my relentlessness in attempting to bring forth milk from breasts whose only stimulation came from the “swoop-swoop” of an electric pump. I drank copious amounts of water and was never a second late hooking up the pump. I would sit alone in the “Mother’s Room” rejoicing if any dribble of milk appeared, but mostly I grieved the moments lost with my precious child while I wasn’t in the nursery. I slurped my water, the machine swoop-swooped, and my heart pounded through my chest while I wished I was near enough to see and touch her. While we drove the 90 minutes each way to see her, I splinted my abdominal incision with a pillow and ignored the pain brought on by each bump in the road. Pardon me, I lapsed into a story for another day, but you can see why I didn’t want to spend any of my moments in Peoria without her…. back to milestones.

One thing I learned very early on was that things happen when they are supposed to happen. I can encourage, cajole, wish, hope, pray, stew, worry, pace, cry, bribe, demand, threaten, and give up; all to no avail. None of these things will make any difference if the time is not right. Encouraging and cajoling will help bring the child to the milestone. Hoping and praying will bring me peace and comfort during the wait, but always the most important part for keeping sane is to know that  “I am not in control”. I find that to be a relief. I realize that if the milestone is never reached it is not due to my lack of trying or through any fault of my own. I am not in control. This did not give me a free pass to not try to help her reach the milestones, it simply made me realize that if I did my best, everything would happen as it is supposed to….when it is supposed….IF it is supposed to happen.

When I learned about Prader Willi Syndrome’s bizarre characteristics. My main concern was that my child would always be hungry. In Social Studies we learned that the three basic needs of civilization are food, shelter, and clothing. Knowing that I would never be able to squelch the pangs of hunger of my child left me feeling inadequate as a mother, unable to provide an essential need. Elimination of the hunger has been my fervent prayer since she was four days old when we were alerted to the possibility of PWS. I have always hoped that modern medicine would accomplish this in her lifetime. I never expected to see it during mine. Her gila monster spit medicine(<ahref=”http://http://vandemom2.wordpress.com/2014/06/01/rescued-by-a-gila-monster-and-the-creativity-of-scientists-we-hope/“></a>)
might not be the full monty, but it surely is the closest anyone has come thus far.

I was at work and Katie was with her father after spending the day with her grandmother and various aunts when she sent me this text:

July 22 5:35 pm

what should i do dinner i went tramimu because aunt chris want to show aunt mary is good she had a bad one last night and not very hunury had bumch salad what should do

TRANSLATION of the words, not the punctuation what should I do for dinner, I went to tiramisu (a restaurant) for lunch because aunt chris wanted to show aunt mary that it is good because she had a bad meal there last night, so I am not very hungry because I had a bunch of salad ….what should I do?

BEST TEXT EVER.

A milestone I never thought I would see.

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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