Baldwinsville, Ny




A Mother's Journey~Ezra Monet

Update to our journey ~ The G-tube chapter:

Christina Manning

So I wanted to update everyone, sorry it's been a while, but things have been a tad bit hectic! So It's been just about a week, since Hannah was admitted to Golisano Children's Hospital for her placement of her G-tube peg tube, and was discharged on Saturday. About 2 hours after arriving home, she started with a high fever, and was doubled over in pain. She could barely walk, and barely even get out of bed. We have never seen Hannah in this type of pain. So we called the on-call surgeon, and they assured us it was nothing to be concerned about... Sunday rolls around, and Happy Mother's Day. Hannah is still running a fever, and still in severe pain, and not eating or drinking, and tube feeds are still continuing, so I proceed to call the on-call surgeon once again... They yet assure me it's nothing to be concerned about, and if she worsens, bring her in to her PCP on Monday, and to treat the fevers as we have been with alternating Tylenol and Motrin. 

So, now Monday comes, and we make an appointment with her pediatrician, and well BINGO! They hear absolutely no bowel sounds, and send her off to get an abdominal x-ray, and that shows that she is extremely backed up with stool. Which is a major concern for Hannah, because of her history! So now we start a regimen, after 3 doses of miralax, 2 Dulcolax laxatives, she still hasn't gone, and here it is Wednesday and we end up at the emergency room, and they take yet another x-ray, and she is still very impacted so we proceed to another regimine. Milk of Magnesia - not the regular 2 tbsp dosage or what have you... They want her to have a half a cup worth through her g-tube the first night, and the second night! Well hooray, this is a time we actually want to have a pooping party!!! :=) LOL  

She's starting to feel a little better.. Her hospital bed got delivered today. Because Hannah is a high risk for aspiration, and is now on tube feeds, she runs an even higher risk for aspiration, especially with the EE diagnosis, and stomach issues... So she has to maintain a 30-40 degree angle while in bed. She LOVES her new bed, and we've never seen her more comfortable than now! 

There were plenty of times when there came a point when I said, I think I'm gonna lose it!!!  I'm finding out more and more as we go along this journey with Hannah She is such a unique case, such a complex case. The doctors are literally going one step at a time. They can't "plan" things out as they would "typically" with other patients. When Hannah came out of the OR, it took them over 24 hours to figure out what their next step was. They didn't know. All they knew as that during surgery they came to realize, her stomach was worse than they realized. Her nerves were more paralyzed than they had assumed. She has been relying on gravity basically. Gravity isn't her best friend. She has been basically starving and been malnourished. Hannah has a non-functioning stomach. She has severe Gastroparesis, and the nerves in her stomach permanently paralyzed! The plan is tube feedings 24/7 right now, for the next 4-6 weeks.  40 ml / hr - 320 ml over an 8hr period - continuous feeds. Because she has a "non-functioning" stomach, slowly over time, like with the next 6-12 weeks, she's going to solely rely on tube feeds only, which means we will start weaning her off of her foods by mouth.. she will be able to drink almost anything non-carbonated though.

The plan is, the next step will be in about 4-6 weeks she will be switching from the G-tube peg tube to a GJ Tube which will avoid her stomach all together and will feed right into her small intestine. Hoping at that stage eventually she won't have pump feeds forever, and eventually graduate to Bolus feeds which seems from what I have researched much more convenient. 

We still haven't reached anyone else in relation with this ultra rare disease! Please help us and post - share - tweet - word of mouth - post it sticky notes~ anything to help our daughter have a voice, and have her story get heard across the world! Help our story get out there! 

Help us raise awareness! Please! This is only the beginning of a long road ahead

I Am Fearfully And Wonderfully Made”
~PSALM 139:14

”Though She Be But Little, She Is Fierce”
~ William Shakespeare


Make A Wish ~ Dreams do come true* (update on Hannah)

Christina Manning

Today Hannah was visited by Make A Wish Foundation, to find out her true wish, and what an experience that was. Bittersweet indeed! Hannah decided she wants to go to Disney to meet all of her favorite characters! Buzz lightyear, Jiminy Cricket, Flounder, Cat in the Hat, Candyland theme park, Woody, Lightning Mcqueen, Olaf, Minnie Mouse, and Mickey Mouse, and so many More~  

*Also recently she has started wearing HKAFO braces to help with her balance! She's doing really good with them!  She goes in tomorrow to meet with the pediatric surgeon, to discuss her getting a permanent G-Tube because currently she is getting no nourishment, and it is affecting her health! 

So to put this in a nutshell and to explain this simply, if simple is even something I can even do lol.  So we had a follow-up with neurology... her mri showed the spaces that we all have in our cerebellum... hannah's spaces are wider than normal... meaning her cerebellum is already showing mild degeneration... she has what is called cerebellar atrophy degeneration.. there going to do a muscle biopsy to measure the muscle conditions and coQ10 level, order ambulatory monitoring eeg, and publish her story in Genetics and neurological journal of Medicine..

All if the muscle strengthening test they did in the office like "squeeze my finger" push against my hand, etc she was scoring a +4, at a range from 1 to 10, 10 being best.. +4 for all the test.. she was weak... he had her put her feet together, put her hands in front of her close her eyes and balance and every time almost fell... lost her balance. scared him a couple times he actually called the nurse over, he referred to that as ataxia..? I literally broke down bawling... couldn't hold back... never seen that before... he had her lay down in the floor, and seeing her struggle to go to a standing position was heartbreaking... she usually never gets on the floor... this shit sucks, was all that kept running through my head! Another hurdle we are about to face, is she meets with a pediatric surgeon on Thursday for a G-Tube consult, and then surgery follows. She isn't taking in any nutrients at all, and they are surprised she hasn't fainted, or collapsed with her sugar levels dropping. So this next step is extremely difficult for us to process... Yet to get Hannah to understand, I can't even come up with a social story just yet to explain this next step to her. She has an esophageal disease called eosinophilic esophagitis, her nerves in her stomach are basically null and void her stomach doesn't digest properly... 24 hrs later it's still full of food... she has major delayed gastric emptying. She has high increased eosinophils in her stomach, as well as in her blood work. Her bowel has kinks in every curvature of it, and her body is always in distress, so her white blood count is always high, her platelets are always high, and her acylcarnitine levels are always high. Her growth failure (she has dwarfism) she's only 4' 4' (lack of appropriate growth) because her mitochondria are “malfunctioning”, in this case, her cellular “engine” will not be able to convert the nutrients from the foods she eats and convert them to usable energy. In such a case, you can push calories in, but they may simply be accumulating as fat. The stomach not digesting well is a consequence of the mitochondria in her gut not adequately fueling the tiny nerves that move digestion along. IDK if that makes any sense, again I am still trying to make sense of it all myself.. 

We have been working with an organization called Rare Science, and as soon as there site is up and running our story will be published! Here is a preview of our story!!! Hope you enjoy!!!   

Happy Easter

Christina Manning

This blog entry may sound a bit scattered, but lately that's exactly how my mind has been operating. I swear my mind has literally been the twin of NYC - the saying goes "the city that never sleeps", constant noise, constant movement. My mind has been just that! Like Google with a million tabs always open, never shutting down always searching for answers.

So on March 23, 2015
We entered the beginning of a new chapter in our life. Hannah went to the Orthodontist and completed the entire process of getting braces, and a bite plate, and chose 4 different colors, to go with the theme of easter. She did amazing! She beat everyones expectations! She looks beautiful, and she has taken on the responsibility full force as well! After every meal without reminders, she is right in that bathroom saying I have to brush my teeth!  Another thing I wanted to update everyone else on, is we have a neurology appointment coming up on April 10th. We believe Hannah is experiencing seizures again. She has been seizure free since she was 6. When she was 2 she was diagnosed with Grand Mal, and Petit Mal seizures and was pretty much having active seizures until she was 6, and then she outgrew them, and was off of all medication. Well now the scariest part has returned. I always knew in the back of my mind that one day they would, just never knew when. The type of seizures she is having is the Petit Mal seizures. The only thing we await now, is of course confirmation, which more than likely would be a long term monitoring test because we have attempted the standard EEG test, and they were inconclusive because Hannah kept moving, or would pull the prongs off of her head. The other test is a sleep deprived test, and well because Hannah does not get "sleep deprived" like ever! She requires sleep medication to sleep. Her brain does not register the typical sleep pattern that we all would usually register. Therefor she doesn't get sleep deprived. She could literally stay up for days on end!

Another thing huge is, Hannah has been referred to Make a Wish Foundation , and on 3/27/14 her Geneticist filled out and signed all the necessary paperwork and faxed it all over, and now the next step continues! The realization that our daughter has been accepted to Make a wish, is yet another hard pill to swallow. Yes of course it's wonderful! We will finally get to see Hannah be the kid she has longed to be, and be the happiest we have probably ever seen her be, around all of her favorite icons, and characters ever!  Hannah is really into Buzz lightyear, Cars, Woody, Jesse, a lot of the boy themed things. I still sit on the thought that one day I will get my princess girl out of her haha! No pressure Hannah, really we have lot's of time. I love you unconditionally regardless <3

So an important piece I should also add, is during my research, and working with the wonderful team Rare Science I was referred to a Dr. Michael Kruer who is a pediatric neurologist also part of the Kruer Lab and is currently studying SCAR-9! Talk about a needle in a haystack, since Hannah one fits the pediatric category, two is the only patient currently in the US right now diagnosed so basically if he wants a patient, he's got one now, and well we found him!! Miracles actually do happen!! He's located in North Dakota. Not incredibly far.  So far I have sent him all of Hannah's genetic testing medical records, and have been communicating either by email, or by phone, and he is eager to work with us, now the next step is to travel. Waiting on that next call to discuss that in further detail.

Okay, so we are also getting the word out via social media. Hannah is on youtube, I am learning all about Twitter, and Instagram, Google +, along with this whole blogging fun lol. While on Twitter one day, this live chat began, and I decided to join in. I had no idea just how fast, and involved Twitter actually was. I also didn't realize how noticed I actually would become either. Who would have guessed. Now we are working with a wonderful woman who is a graduate student in a Science Writing program at Johns Hopkins University, and is interested in writing a story about our daughter's condition and our struggles as parents and advocates.

Also still while this is all going on, we are still continuing to work with Rare Science, and I am awaiting out final draft of OUR STORY to be written, and then it will be published on their site. Once that happens, I will inform all, and you are more than welcome to take a look at the wonderful work they have put together!

Even though I feel everything is still moving very slow, and we still haven't uncovered any answers to our daughters condition, and haven't found any other families. Also since publishing my very first entry to our blog, it shows there has been over 1100 viewers, and it's a bit depressing that we haven't recieved any feedback, nor any comments to our blog. I mean wouldn't you think someone, somewhere around the world stopping by, reading such information would say something??  It kind of is making me loose hope. How should it make me feel?  ok, well this is still all new to me. I'm thinking I should update a bit more often, rather than sounding so jumbled and cramming it all into a single update. Sometimes it's just hard to get my own thoughts clear enough to leave my own head and out for the world to know it as well..

Hope everyone enjoys the slideshow of Hannah Monet's best moment's~

Happy Easter everyone 2015

National Rare Disease Day is Saturday, and ....

Christina Manning

Well as National Rare Disease Day soon approaches, I wanted to add a couple things. On Saturday, Channel 9 News has taken the interest in coming to our home to interview our family and air our story on Hannah's Ultra Rare Genetic Disorder in honor of National Rare Disease Day, and will air at 6pm! This is a wonderful opportunity for a chance for our story to get out there! We feel so very humbled by this, and so very blessed. I feel that finally one door is finally opening a crack. Some reason though I still feel as If I am still breathing with an oxygen mask on, and I am not sleeping at all! I am so overly exhausted, and I literately feel my body shaking inside during the day, and most days my face, and even my hand get this numbing sensation in them, and it drives me nuts, and I'm always cold. My mind always feels as if a million tabs are always left open, and my brain "stopped responding".    

 Remember how contagious a simple smile can be! Hannah created a smile day because it is simply her favorite thing to do! Share it on, and remember don't forget to smile WITH YOUR TEETH!   Hannah is always happy, and always smiling, and telling everyone to smile with your teeth, she wanted me to video her making a video of her creating a national Hannah smile day!!  

The little things in life never go unnoticed. They speak the loudest, and create the best memories~

Christina Manning

Dear Hannah, remember when you were 5, and all you did was sign, You never cried, or wanted anything, and cuddling time came daily. Remember when you were 7, and speech started to take off, and you hit another huge milestone and became potty trained.. that was an awesome year, but still at that time you wanted for nothing, you were always happy and cuddling time came often. Then somewhere between then and now at 12 years old, you could care less about cuddling, you need your privacy.. (for what I still don't know) and you think mom is so boring lol.. your speech went from babbling to a much opinionated little girl. You have ideas, and imagination, you tell secrets, and have long stories, you argue, and say NO, you know when you don't feel good, and tell me so too.. you notice things about yourself now that I never thought you would! You say your pretty and silly and love having friends. You know what being sad is, angry, and jealous! You know when your happy, and when things are hard or boring, and you have no problem expressing so either lol.. You still struggle at times though, like when you repeat yourself 100 times, scream for no reason, talk as if we're at a concert, cry uncontrollably because little bill lost his hamster, or Lisa didn't answer the phone on the 100th time calling her in 2 hours, you know.. the little things that drive your mom's insane lol! Like at 3:00 in the morning when you think it's time to play on the computer and you come charging in our room like the Tasmanian devil screaming "my mouse isn't working" can you fix it and we realize Hannah you need to be in bed! Or those wonderful 4 am awakenings with the magic words "I pooped, come wipe me"... yep we love you!!! IN 3 months your going to turn 13, you will finally be that teenager you have been waiting to be. Magical number 13! I can't wait to see what kind of changes this next year brings... Your making all kinds of changes, your getting braces, becoming more mature, developing quite the little tude if I must say so myself lol, your showing interest in wanting to earn an allowance, learn how to do laundry, bake cookies, play candyland with us. I've quite enjoyed the time we've spent together lately. You've opened up in oh so many ways. Your learning to trust more, which comes with maturing. I'm so proud of the beautiful young lady your becoming. Maybe this next year you will learn how to run your own bath, or make a sandwich, or idk but it's so exciting to think of the possibilities!!! Maybe.. just maybe.. we can tackle the theory of tying your shoes.. Oh won't that be the most magical day!!! I love you my angel even on the days when you annoy me the most lol.. I promise it's never that hard being your mommy! I'd do it all over in a heartbeat!!! Muah xoxoxoxo