Baldwinsville, Ny
USA
315-802-8202
THE PURPOSE OF MY BLOG IS TO FIND OTHERS OUT THERE SIMILAR TO OUR DAUGHTER'S CONDITION. TO HAVE OUR STORY BE HEARD AND SPREAD AROUND. TO GET GUIDANCE, MEET NEW PEOPLE, A VIRTUAL COMMUNITY OF HOPE! WE'RE HOLDING ON TO THE POSSIBILITIES! LET YOUR VOICES BE HEARD. EVEN IF IT'S JUST A HELLO
Hannah began Baker High School in September and let me tell you, this has been a game changer! ❤️
For the last 4 years she has been is a specialized school for kids with Autism and behavioral difficulties, and she graduated from that program, and moved on with the big kids and we have one very happy kiddo making all kinds of changes, and willing to try new things.
The words fit so many with Autism, as well as those with anxiety. This song definitely tells a story as I tried to explain it to Hannah the best way I could.
Our fighter, has been through hell and back and always with a smile on her face! She's a firecracker and I love that about her... I have learned so much through her.
She's preparing for the New York State Fair to see Rachel Platten live free...
We are extremely estatic! After 13 months, and 7 emergency surgeries for her gj-tube replacement, she finally gets to have a gj-tube MIC-KEY Button. Welcome to simplicity
She also finally got the real deal Benik belt!
I thought I would make a full list of all Hannah's diagnosis and challenges :
-SCAR9 Spinocerebellar ataxia, autosomal recessive 9 - defects on ADCK3 OR CABC1 on chromosome 1q42.2
-She has two mutations in her ADCK3 gene: p.Y607* (c.1821C>A) and p.T445K (c.1334C>A)
-Gastroparesis (complete paralysis in her stomach)
- GJ- Peg Tube permanently nothing by mouth but small amounts of water throughout the day.
Pediasure Peptide 1.0 at a rate of 50 continously 24/7 via pump by J-Tube
-Autism (high functioning)
-Sensory Integration Dysfunction Disorder
-Low muscle tone
-Receives Occupational Therapy, Speech Therapy, Physical Therapy, and Adaptive Physical Education
-Requires a 1-1 teacher at all times during school, is in a 8-1-1 class room for children with Autism and behavioral difficulties
-Intellectual disability
-Eosinophilic Esophagitis (EOE) Rare Disease NIH
-anxiety
-Chronic constipation
-Short stature, growth retardation her height
is 4'5 legally anything under 4'12 is
considered dwarfism without the gene.
- She has stumpy hands, feet, limbs, and torso
her shoes are still a size 3 in kids technically she's in preschool shoes lol 3.5 is school age
-Acanthosis Nigricans (and isn't diabetic)
-Prominent Fetal Finger Pads (which is rare)
-Infantile Cerebral Palsy
-Heart Murmur
-ASD - Atrial Septal Defect
-Hemoglobin C Disease Trait
-Scoliosis with Kyphosis
-Ataxia
-muscle weakness
-mitochondrial disorder
XR SPINE-ENTIRE THORACIC AND LUMBAR
There is a levoconvex scoliosis of the thoracolumbar spine
measuring approximately 7 degrees.
There is mild-to-moderate narrowing of the medial compartment of
the knee and a rather comparatively diastatic appearance of the
lateral compartment with a somewhat diminutive lateral femoral condyle, possibly a congenital variation.
Soft tissues appear prominent about the ankle, particularly
SPINE THOR-LUM-STANDING
INDICATION: Scoliosis.
FINDINGS: There are 12 rib-bearing thoracic vertebral bodies and 5
ribless lumbar type vertebral bodies.
There is a 11 degree thoracic levoscoliotic curvature measured from
T6-12. Rotatory grade 2.
There are no vertebral body segmentation anomalies.
There is 12 mm right superior pelvic tilt. There is 8 mm positive
coronal imbalance. Thoracic kyphosis of 41 degrees. Lumbar lordosis
and 32 degrees. 13 mm positive sagittal imbalance.
IMPRESSION:
Scoliotic curvature and additional findings as above.
MRI SPINE CERVICAL
FINDINGS: The alignment is anatomical. A mild amount of central disc protrusion
is seen at the C5-C6 level and C6-C7 level.
Blood Type - AB POS (RARE)
So Hannah wakes up with the balloon to her feeding tube once again at the opening of her port access about to perforate through her stomach yet once again. While in the process of getting ahold of on-call, and that entire process, there must have been a flaw or something odd wrong with this tube because thank goodness we have the medical cams always recording, Hannah stands up, and next you hear this loud piercing scream. Yep tube falls right out and stomach contents pouring all over the floor... Off to the hospital we go, and admitted she was. AGAIN We noticed she ends up in the hospital having these tube emergencies every 3 1/2 months. So exhausting
For those of you who ever wondered what it's like having a feeding tube, or what it means to live with a feeding tube, or for me, to be a complete caretaker of one with a 24/7 lifeline! Here is the basis of what it looks like.
Today was a very exciting day for us all! Seeing Hannah’s story on the cover of the Washington Post, what a proud, yet melancholy moment. I mean it's not like she just won the Nobel piece prize, or ran a 5k! She's in the paper because she has such a RARE disease that no one else in the entire world has it, and doctors are left speechless! So it leaves me with mixed emotions. Then by the end of the day, Hannah made it even bigger, her story got picked up by another website, the WAPO - see my next entry for more info~
Hannah is 13, and has discovered Legos.. I have waited for this milestone since she could walk... I mean the package says ages 2 and up, so technically I have been waiting 10 years to experience playing Legos with my child lol... This is amazing!!
Where do I even begin. Trying to find the words seems almost impossible. I'm usually never speechless!! How far have we come in a year? I can start there I guess. Well, let me think a moment... Hannah has definitely had her ups and downs, She has been in the hospital quite a few times. Family has drawn closer, and then some family has chosen to walk away. I have met some incredible people along my journey of reaching out to the virtual world of support. I have also learned a lot along the way, some things I have learned has actually angered me more now than the first day of diagnosis. Hannah has definitely progressed in her disease since day 1. Right now I would say is the hardest to watch. It's heart wrenching. Knowing your child is suffering and you're hands are absolutely tied. Knowing there's no cure sucks. I'm emotionally, and physically exhausted. I won't give up the fight though. I will continue to do everything in our power to make Hannah's world as bright, and happy, and fun as can be! I wish I could be inside her head to know what she was thinking. I wish I could take the misery away. If I could trade with her I would in a heart beat! I don't understand why any child has to suffer, ever! I don't feel like I’ve have gotten any further with getting the word out, and getting our story heard. But I'm not giving up! I need the media or someone to hear Hannah's voice. To know how much we are struggling, and how rare this is, and how alone we are. The fact that she is Case 1 in the world! Someone, somewhere has to care about that... It has to mean something. my mind is so fuzzy and discombobulated right now, I think this is where I will end this...
Alot is weighing heavy on my brain right now.. Waiting for the date for Hannah to go back into the O. R. to undergo anesthesia again, and to be intubated yet once again, to have a full body MRI and x-rays done of all of her joints and muscles and repeat labs. Her body is slowly becoming more fatigue, and she has edema in her ankles and feet, and her legs are stiffer than they would definitely like to see for a child her age. The Rheumatologist is suggesting Juvenile rheumatoid arthritis or lupus... Then also added on that the condition that Hannah has, the Acanthosis Nigricans, A skin condition characterized by dark, velvety patches in body folds and creases. Also called keratosis nigricans, will in fact lead Hannah to Diabetes and there's absolutely nothing we can do to stop it. I'm feeling overwhelmed, heartbroken, at loss for words. Also to top it all off Hannah's aide quite, we're waiting for a private duty nurse instead of a home health aide this time around. It's going to take quite a while they said though because pediatrics isn't easy to come by with staffing! Apparently senior citizens seems to be quite popular and extremely easy to fill, that they have even offered a $2 pay increase to the pediatric team. So pathetic. Then the next hardship, the colder weather is arriving and we're still waiting for Hannah's ramp to be built because it's becoming more difficult for her and she hasn't been able to continue using her wheelchair to school because it's literally impossible to push in our rock driveway! Like pushing it through quicksand! So yes Alot is weighing heavy. I can keep rambling on but I'll stop there for now...
Today we got informed that Hannah has Hemoglobin C Disease and is also being referred to a rheumatoid specialist because her levels of her C - Reactive protein levels are extremely high. Levels should not be above 3.0 and Hannah's is 51.9. If that doesn't have your heart racing!!!
So not only is our blog just specifically about SCAR9, but it's about Hannah as a whole! Which is why in the first post, how we met SCAR9, it pretty much covers ALL of Hannah's quirks. Hannah has Autism too. It's our life as well, and it has been our life LONG before SCAR9 came along.
SCAR9 pretty much trumps Autism in every which way, but we still struggle with Autism, and that is a very real daily struggle as well. So I don't just blog about simplicity, and make timelines, etc. I also want to keep things as real as they can possibly be. To show my readers that you know what. It's hard! VERY HARD. So here is a video of how it is when Hannah has her struggle, and how we get still, very lost and how to help her, even though we live it every day!
This morning the unexpected happened! Hannah's G-J Tube came out, and she was rushed into emergency surgery to have another one placed. However surgery for Hannah isn't just simplified. Anytime she goes into surgery, she has to be intubated and has to be surrounded by a team of doctors because she always has complications! There's always a risk. She pulled through like a champ though, and everything is working great, and she was able to come home that very evening! The entire process surely was scary though! She has only has this for nearly 5 months, and to think we have already crossed this bridge so soon, and she is going to have this for life. I'm terrified! She did however get an amazing Build A Bear for going into surgery! The wonderful thing our childrens hospital does is for each surgery she gets a Build A Bear. So Hannah has quite the collection let's just say lol
I am so incredibly amazed at how much she grows up and learns right before my eyes... I love you to the moon and back ~
What I Am (Will.I.Am) Featuring Hannah Manning
I am so very proud of my amazing daughter!
Hi readers, I wanted to make this update seperate from my last one because that was super special, and it had to be by itself! This update is about the accomplishments Hannah has made, and how so very proud of her we are! She makes giant leaps forward, and then sometimes has mini steps backwards, but we take the good with the challenging and that's just how life goes! So here is some very awesome "We are So proud of You Hannah Monet Manning Moments"! I hope you enjoy
So the moments that make us proud! Hannah visited Channel 9 news, and someone very Special gave her a Nikon Camera for her Disney Trip! Hannah went to the 2015 Special Olympics and even gave it a whirl! Hannah went, and sat through an entire Chiefs baseball game and tried cotton candy! Hannah can express her favorite season, character, and she has FRIENDS! None of this was possible a year ago! Hannah has a full set of braces on her teeth, and a bite plate, and required 0 ZERO medication for the several appointments she has already been to! (mom still can't get through the dentist without premedication) LOL Hannah is accepting the fact that her life is now 100% relying on a feeding tube, and at times she gets annoyed with it, but so do we... She walks with it, with pride!
I couldn't be more proud! Does she still struggle! Absolutely! The braces HKAFO's on her legs are a PIA and very much annoyance, but it's our world now, along with the next steps were going to be facing! Hannah has an upcoming wheelchair evaluation, she will be getting her own customized we chose (non-powered) wheelchair. Hannah has not so great muscle tone in her hands, and poor dexterity especially when concentrating, so having her try and operate what I call heavy machinery isn't gonna float my boat! She has her next surgery on June 26th to switch from her G-Tube Peg tube to a GJ Tube, weather she will continue on her continuous pump feeds or switch to bolus idk!
She has a muscle biopsy soon to be scheduled, and eventually an home ambulatory EEG monitoring test to be completed. She will soon be placed back on seizure medication for her seizures.
It kind of feels like a medical unit in our house lol
Hello Readers - It's been a little while, and in that time our big girl has hit a milestone! She's officially a teenager! Let me tell you, she knows all about what that means too! Attitudes are flying everywhere, like someone secretly told her that when she turns 13, attitudes comes with the description of teenager lol... Oh Well I'm definitely enjoying these "typical" moments, so I just sit back and chuckle. Well Friday May 29th was her official birthday, and we have a tradition that at midnight, I wake her up and yell HAPPY BIRTHDAY and allow her to open up one gift!
Well this birthday was super special, so she opened up 2!!
Then she went to school, and of course they rocked it out there, and she was treated like the royal princess she already is.. Then something so very magical and super special happened after school! Well first let me rewind.. I received a phone call from a number I didn't recognize at all, and usually I never answer any calls I don't know, but it was in the middle of complete chaos and of course my brain didn't register that fast at all so I just answered the phone as usual.. The conversation took place, and 10 minutes later I kid you not, I had no clue what just happened, or who I even talked to.. Yeah tell me about it.. So, of course the embarrassment I'm already feeling wondering if I just agreed to something, or crap should I have. I think I just gave my address to someone, oh no!! So I called the number back, and I'm totally still in outer space somewhere, which happens to me quite often I might add since "suddenly - just like that everything was different". Anyways I'm off topic again, I called that number back, and after I'm like who is this, and this is so, and so and I figured everything out, and realized yes I did talk to someone I knew, and yes there coming to my house, I was still in disbelief, and what seemed like eternity waiting for her to arrive had my heart racing, and my stomach filled with butterflies, and I wanted Hannah to feel that same excitement I was feeling but I couldn't even look at her or I knew I would explode! So I chilled patiently outside haha. That moment arrived, total and complete shock, about to puke from excitement, do I cry, do I scream, NO SILLY GO GET HANNAH! DUH lol.. OH my gosh, I've been dodging her, and here is the moment, and I froze! HANNAH, OMG HANNAH someone is here to see you hurry!!! Hannah comes out, yells Emily (Emily Vercelloni) quick story about how we know the amazing Emily-Jowonio Preschool. Need I say more~ The best preschool on the planet. They need to be a K-12 school I swear, but there only a preschool! Not just anyone goes there, Hannah was accepted on a scholarship! The BEST! Emily, I don't think she realizes just how much she has impacted my life! She has been there for me at some crazy times! She has given me some very encouraging words, strength, faith! The courage to keep going! I've landed in her office at some dark moments I tell ya, and she has never judged me! I thank her for that! There's only a few people who have left a huge impact on my life, and Emily is one of them! Okay enough with the sap. LOL I'm just an emotional person, and well I have to get the important stuff out (all of it) SO I know you're all waiting for the big surprise, as I'm dragging the story out, I would be fired if I ever tried to write a book. She showed up here with an XBOX ONE with MINECRAFT..SHUT THE FRONT DOOR! It's all Hannah wanted for her Birthday! She even tried to give me her piggy bank and told me to go buy it for her! Now, she said not to give all the credit to her! I'm going to most definitely give credit where credit it due!! So shout out to the guys at MICROSOFT, Michael Tyler and Nick Dunler! *Jennifer Kelley~ Now a special Thank You to someone else who has also impacted my life in oh so many ways! I have known this person for gosh I'd have to say it's been at least... holy crap time flies when I think back, I want to say it's been 15 years at least!!! Jiminy Cricket! I met this person back when my life was up and down that thing called an emotional roller coaster, before I even knew what stability was, before the time of kids even, she too has been there at my darkest times, and giving me encouraging words, she has seen the worst of me, and the best of me. She knows me even more so than Emily even! This woman is incredible, she has amazing strength, and I admire her! Emily says she "worked behind the scenes" and she made this all possible! I won't even tell you how I even began to think how this person "viewed" me as a person, or as a mom, but apparently my thinking was super corrupted and way off because we, and especially Hannah definitely has a special place in her heart! I am the first to be brutally honest, and the first to admit when I am wrong, and I was completely off base! Maybe I was just sensing that because I wish we had more of a connection, that we seemed to have lost along the way, because I see that we have so much in common as parents. I feel we could be super supports for each other, and I super miss her! Okay, I'm being sappy again, and off base, but that's who I am, get use to it haha! So I have to say Jennifer Kelley (who is also now at Jowonio), Where do I even begin! Jennifer, Saying Thank You, doesn't even seem quite right! Thank You, from the top, middle, and bottom of my heart! You mean so very much to me, words cannot express the gratitude I have, the amount of joy you have brought to our daughter! The smiles you brought to her face, you brought her out of her "bubble" meaning her room! She spends so much time in her room, and it's literally her world, and were never really welcomed into her "world", and she never spends much time out in our world (the living room) Now with this, she wants to be in the common area all of the time, and I couldn't be happier! I said to her so this is what life is like when were all sitting on the couch together for more than 10 minutes! It was pure bliss. ~Priceless~ You have to spend just a few moments with Hannah, and she will leave with you footprints that will last forever! Her smile lights up the darkest room, no matter what life struggle she endures, she wants no pity from noone! She doesn't pity herself. She says "GIRL POWER" I GOT THIS! ~SMILE WITH YOUR TEETH~ Even on the stretcher on the way to the OR she still has that huge smile, and she's still yelling down the hall SMILE MOMMY ... So seriously, Jennifer Kelley, HUGE PROPS to you, I don't know how you did it, I didn't even know you knew anything about any of what was going on, but let me tell you, surprises are phinemonial -Magical even! Here are the pics from that super AWESOME DAY! They rocked her birthday at school, and then she chose her birthday dinner place of choice of course was Mcdonald's And now I will continue onto the rest of her very exciting weekend! Mind you this was all just on Friday! Can you believe she had so much excitement in one day, and she handled it like a champ, and embraced each and every moment of it! Now Saturday was a bit overwhelming for her. Her favorite person ever came to spend the night, Saraya who has been her sidekick since she was 7! Hannah calls her, her sister! They are BFF here are the pics from Sunday's event
Hannah's Make A Wish Reveal Party Hannah is GOING TO DISNEY WORLD! AND A VIP with CAT IN THE HAT!
So a quick wrap, Shout Out to #XBOX ONE #MINECRAFT #MICROSOFT #MICHAEL TYLER #NICK DUNLER #JENNIFER KELLEY
#EMILY VERCELLONI #JOWONIO #MAKE A WISH FOUNDATION (REBECCA AND MEGAN OUR WISH GRANTERS)
#THE STELLATA PROGRAM AT BOCES (MISS ALLISON ROCKS)
#PROPS TO THE ENTIRE TEAM BECAUSE HONESTLY WITHOUT YOU ALL WORKING TOGETHER,
HANNAH WOULD NOT BE THE SHINING STAR SHE IS TODAY! SHE'S SHINING SO BRIGHT AT SCHOOL :)
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”
