Chapter 2

I know it's been awhile since I've been here. We took Maddie to the MIND Institute at UC Davis about two weeks ago. It was an amazing visit. I've been afraid to come back here and publish the results. I've been on an incredible high and somehow thought that the moment I posted it... It'd go away. You see, that's how this journey works. There's extreme highs followed by extreme lows. It's a rollercoaster. It's not your typical rollercoaster though... it's a crazy loopty loop, riding on the edge, up in the air, forgot to buckle in kind of ride. Right when you think you're going to fall off... you find balance you never knew existed. At least that's been my experience so far. It's a ride I didn't sign up for... but its a ride I wouldn't get off either. I'm sure that sounds a little like an oxy moron....I guess what I'm trying to say is that I wouldn't change Maddie, but that doesn't mean what we've been through hasn't royally sucked.
We did get answers. We have a better understanding of what our 'ride' will entail. Maddie has officially been diagnosed with partial trisomy of 5q. It's a rare chromosome disorder. So unique that UC Davis only has information from about 15 cases of similar duplications. Chromosomes are tricky microscopic things. The effect of abnormalities vary greatly between individuals... they're relative to the size of the variation, exact location, and well the entire DNA make-up. The geneticist started with a disclaimer: there's no crystal ball to say what's in our future... then they provided us with a glimpse of hope! They also brought in a crane and removed the 30 ton brick that's been residing on my shoulders. You see this wasn't my fault. I didn't do it. It wasn't a nutrition issue, or caused from stress, the kidney stones I had while pregnant didn't cause this. It happened at conception. It just happened and that is liberating. I know you all want me to cut to the chase...what does this mean for Maddie? I'll get there I promise!

When we walked into the institute we were greeted by the receptionist... although we'd never met her... she knew who we were. Afterall, we were the 10:30 appt. I didn't have to hand over our insurance card or fill out paperwork. Everything was transferred from our referring physician. (If there's a Dr. reading take notes on the above) We proceeded to a waiting room that was stocked with toys for kids of ALL abilities. Then they led us to the exam/oberservation room where an intern came in and talked with us for awhile. She prepared us for the appointment, asked our expectations, and gathered a little family history. She also thought Maddie was the cutest thing. Then the geneticist came in... SHE WAS AMAZED. Maddie was crawling around saying dada. She had expected to see a different baby, not only in skillset, but in appearance. Maddie doesn't display any of the facial features of the disorder. The doctors' presentation was perfect. She focused on the things Maddie could do and there was pride in her voice. She got it! Finally someone got it! It was as if she knew what it was like to be in our shoes. She was empathetic. She had personality. She made me feel like a good mom. The chromosome abnormality explains Maddie's global development delays, it explains her kidney problems, IT EXPLAINS HER LACK OF GROWTH/FAILURE TO THRIVE. There were previous appts where I really felt like I was being accused of not feeding my child. I fired a pediatrician because of her round about accusations. But Nope, I TRIED.. oh man did WE TRY. Maddie is small (she does have GI issues) but she will probably be small her whole life. Small's cute right? We were warned of heart problems and siezures. These are effects of the disorder that we need to keep an eye on. Thank god they haven't been thrown into the mix yet... I pray they never are! The geneticist mentioned absent speech and mild mental retardation. She wasn't the least bit concerned with Maddie developing those because she displays some cognitive ability and has a few words. The phrase that the geneticist said that was the most uplifting was "when Maddie decides to have children she'll want to meet with a genetic counselor prior to" I had kissed that thought along with the thought of Maddie having anything close to a typical life goodbye when Maddie was iniatially being tested for cystic fibrosis. We've heard so many theories... none of them resulting in any thing close to typical. But this wonderful doctor thinks Maddie's going to be okay. She thinks Maddie's going to get there... it's just going to take her a little longer. We're going to have to work a little harder. So now we know....we know what we're up against. We know just how truelly unique our little Maddie is. We can begin a new chapter. The beautiful thing is that Maddie doesn't know she's different. She's perfectly content being Maddie. So, I'll be waving my arms up in the air on the next loop of our rollercoaster... although there's no crystal ball, my faith has been restored in happily ever afters and I feel ready to take on just about anything. Please  remind me of this the next time we get catapulted unto a loopty loop.

Welcome to Holland

When Maddie was born and problems started arising (there's no worry like the worry you feel for your child) I was thrown into a WHOLE new world.... doctor's, physical therapy, feeding therapy, occupational therapy, hospitals, counting calories, lab tests, ultrasounds, MRIs, EEG's (you get the point) For a first time mom it was all very overwhelming....

A friend posted this on her blog and when I read it... I had to read it again, This is what it's like!!!

Welcome to Holland

By: Emily Perl Kingsley

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo. David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy. But after you've been there for a while and you catch your breath, you look around... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But your friends are busy coming and going from Italy...and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things... about Holland.

Holland isn't so bad, In fact, It's beautiful... stressful, but beautiful! We still don't know what Maddie's test results mean. My pediatrician is working on our insurance to approve a referral to meet with a geneticist at UC Davis. The geneticist there has been reviewing Maddie's medical file and thinks it's possible to get Maddie's medical funded for 'research'. The bloodwork for George and I would also be funded to see if the duplication was inherited. Maddie's micro array was $4500, so that would be a HUGE HUGE HUGE help if they would fund it!

I emailed rarechromo.org and they were able to find another child with a similar duplication. They have 7400 members registered with them, 46 of them have duplications on the 5th chromosome, one of them is in the same segment as Maddie's. They have no one matching Maddie's more distal duplication. I have an email out to the little girls mom and can't wait to talk to her! Wow... our life feels like a soap opera at the moment!

Chromosomal Significance

What is the importance of a chromosome that has a duplicated segment? What happens if that same chromosome has two segments that have duplicated? These very questions have tormented me for the last 24 hrs. Dr. D. called saying Maddie’s chromosomal micro array results came back. I’d been waiting for the results… I started to get antsy last Thursday when they weren’t in yet. I think she could sense my anticipation because she just cut to the chase… “the results were abnormal” My heart started racing… It was beating so fast and so hard I felt it in my head. I was waiting for the punch…this is indicative of _______ syndrome…., but Dr. D wasn’t able to deliver a punch … she didn’t know what it meant. I was referred to another one of Maddie’s doctors, Dr. K, who’s more versed in the world of genetics. Unfortunately it was 4pm and I wasn’t able to get in touch with Dr K. I spent all night waiting for today, and it was a looooong night! Maddie was in an incredibly happy mood both last night and this morning... I needed her smiles. For anyone who hasn’t met her yet, her smiles make you forget about the world around you…. but still, after I got to work I psycho dialed Dr K to no avail. (She really should put her office hrs on the message machine). I did however receive a phone call from the neurologist (Yes, the one I fired.) For some reason he was copied on the lab results. He didn’t have any answers for me either… he referred me to a geneticist at Stanford. I asked him to fax me a copy of the lab paperwork. I was going to figure this out…

4.18 MB Duplication of 5Q14.3-Q15

13.9 MB Duplication of SQ21.1-Q22.2

The considerable size, number or annotated genes in the intervals and the low percentage of known variant region overlap all strongly suggest that these gains do not represent normal familial variation.

OMIM genes MEF2C, CETN3, GPR98, ARRDC3

distal segments: RGMB, CHD1, PST, SLC04C1, PAM, HISPPD1, CUDT12, EFNA5, FER, MAN2A1, SLC25A46, TSLP, WER36, CAMK4, STARD4, C5orf13, EPB41L4A

That's a little sample of the 2 page report. Uggh… why can’t they talk in laments terms? Google is overrated too! I googled for hrs and hrs! A friend helped interpret some of the jargon, but we still don’t know what the whole picture means. Dr. K finally called me back this afternoon… she informed me she has an email out to someone at the M.I.N.D institute at UC DAVIS and a phone call into her contact at Stanford. She wasn't as versed as we thought... but she has resources!  Hopefully we’ll have more definitive answers tomorrow.

I had amazing support today. I can’t tell you what kind of emotional state I’d be in without the girls on my BBC board. Maddie, George, and I… we’ll be okay. If it’s big, we’ll get through it, but I have a feeling it isn’t going to tell us anything we don’t already know. Maybe it’ll give it all a name, maybe not… but IT CAN’T CHANGE MADDIE, she’ll still be the smiley little peanut who has me wrapped around her little finger … nothing can change the way my heart feels for her. I’ve learned what true unconditional love is. Hopefully I’ll learn the meaning of two duplicated segments on the 5th chromosome tomorrow.

Changing the World: One Doctor's Office at a Time

I received a phone call from the manager of our neurologist’s office regarding the letter I had written (see below). She said that she started to draft a letter back to me, but decided a phone call would be more personal. To be honest, I liked her. I liked that she apologized profusely was able to admit they dropped the ball. More then that, I liked that she promised this wouldn’t happen again to ANYBODY. Apparently she had a long conversation with the Dr. about what happened and they decided it was now her responsibility to make sure all patients are notified of test results. The Dr had taken for granted that patients usually call to follow-up…. my situation enlightened them. I could tell she was truly sorry, the tone in her voice spoke volumes! She said if I ever needed anything to call her…. even if it’s for advice or a referral to a new neurologist haha. I couldn’t be happier about the outcome… it might be a minor change in a small office, but it’s good change that might save another mom big heartache!

Maddie's Birthday Pics

Dear Dr. of Neurology

My husband and I sought out your help in identifying my daughters’ developmental delays last October. I appreciated you taking the time to come down to Saint Mary’s and meet with us. You seemed very knowledgeable and the testing you recommended was thorough. To be honest, most of our stay at St. Mary’s is somewhat of a blur. There were a lot of tests and a lot of anxiety. I do remember, rather vividly, the phone ringing as we were being discharged. You had called to let us know that there were no abnormalities reported in Maddie’s EEG, and from what was able to be seen in the MRI, it looked okay. Then the bomb was dropped, you thought it was a possibility Maddie had Rett Syndrome. I understand why you would’ve thought that with her present symptoms.

Before I get to the underlying reason for my letter, I want you to know that I really do admire your field of work. The human anatomy and what makes things tick has always interested me. I remember studying neurons and the transmittal of information to and from the nervous system in college… we also covered various nervous system disorders and what not. I now find myself on the other side of the textbook, and there’s nothing scientific about it. This is real life, this is our child…. and it’s my family’s reality. The neurology referral alone was disheartening; but to hear that you suspected something wrong, that was terrifying.

After our phone call and discharge from the hospital, I cried for 3 days straight. I’m not blaming that on you in anyway whatsoever, it was my way of grieving the normal life every parent wants for their child. Two weeks after the test was performed, I received a phone call from your secretary stating that they didn’t draw enough blood to complete it. I asked her which test, and she said the one that looks at chromosomal abnormalities. I asked her specifically if that was the test for Rett Syndrome, and she responded ‘yes’. My husband and I decided not to re-test. We needed some time to recover from the rollercoaster of our lives. The thought was always there lingering in the back of my mind. Then, last Thursday, we met with a developmental pediatrician who suspected Rett Syndrome as well. This, in my mind, confirmed your belief that Maddie had it. I went home that night and had another good cry. As much as I hate to admit this, I even practiced saying ‘Maddie has Rett Syndrome”, my life was forever changing, or so I thought.

On Tuesday, the developmental pediatrician called to say she received Maddie’s chart from your office, and the Rett testing had in fact been completed, it was negative. The chromosomal microarray was the test that concluded an insignificant amount of DNA. I wonder how long you had known? Please don’t EVER put another parent through this again. It would’ve taken your secretary all of 5 minutes to place a phone call to me or draft a letter when test results came in. I believe this is a standard procedure in most practices, if it’s not, it should be. A negative Rett syndrome test is an extremely crucial part of our daughter's life/medical file. We have wasted time, tears and energy on wondering about this because someone dropped the ball. I know it’s not over; we have a rough road ahead of us as Maddie’s delays are still undiagnosed. Unfortunately, we are going to find another pediatric neurologist to help us with our quest for answers. There has to be an empathetic doctor somewhere.

Sincerely,

Stacy Grover

(This letter will mailed out Monday. I'll keep y'all aprised of any responses I get, although I'm not anticipating one!)

It's Been Awhile!

So I haven’t written here in awhile….The holidays are a busy time of year, and I’ve been on vacation. I’ve been spending time with the chickens and cows in Farmville. I’m not going to lie…it’s really kind of a stupid little game on facebook, but I love it. Being on the farm takes me away from reality for a little while. I think everyone needs to do something that’s a little mind numbing (in moderation). I’m working on the moderation. Around 8 o’clock last night I realized I hadn’t made dinner yet…so maybe I didn’t ‘realize’ it. George might’ve nonchalantly asked if there was anything to eat …. My response “I finally earned enough money to buy the pink tractor. YaY me!“ Don’t worry I made sure the precious little one was taken care of… she was fed and content playing with all the new toys she scored for Christmas. She doesn’t really ‘play’ with them, but she does really enjoy chewing on them. I wonder if this teething stage will ever end??? George has been spending extra time with her since I started my vacation a few days ago. He taught her how to say kaka. Since she’s a pro at saying ‘mom’, he thinks its hilarious trying to teach her to put the two together… ‘kaka mom’. Not funny. Well, maybe it is a little funny hearing George crack himself up every time he says it. …..p.s… I did get off the game and make some great chicken parmesan. Micheangelo’s has some pretty good T.V dinners ;0)




Update on Maddie…. SHE’S ONE!!! Holy moly… it’s been a year since we started this journey. She impressed the doctor at her one year checkup. She blew her a kiss on demand ;0) I was so proud! Murphy’s law has it that when I say she can do something new and try to get her to show someone, she shuts down. I sometimes wonder if her therapists and doctors think I’m a liar. She’s becoming quite the social butterfly though. I just love her to pieces!!! New pics coming soon…

Follow Up to Last Post..FOLLOWED BY SOMETHING REALLY EXCITING!

Maddie had her appt with Dr. Gregory on Friday. I was all nerves walking in there. As Usual, George was calm. They were running behind and it was going to be a 45 minute wait. This was nothing new. In my vast experience with appointments (I've become somewhat of an expert and could write a book on how to stay entertained while keeping your kid happy in a waiting room), I should've known better and should've called ahead of time to see if the Dr was on schedule. We sat there gathering our thoughts on the dreaded feeding tube. There was just nothing I could think of that the Dr could say to change my mind... I'm against it; George is against it. Maddie has taken steps forward with her feeding. She no longer gags on puffs and will eat a few bites of rice, beans, shredded chicken... things that a month ago she'd gag and puke at merely the sight of. She eats 4-5 meals a day of purees and yogurt, and is at least consuming enough liquids to stay hydrated. So what could the Dr of possibly 'found' in this research?... NOTHING! The tube was mentioned  as a plan B in his notes. The Dr. agreed wholeheartedly that the nurse should've gathered more info about our situation. He's going to talk to her about it. He said she's a 'passionate' person, but has good intentions. I have a few other words I'd like to call her. Dr. Gregory was impressed with Maddie's weight gain... she's back on the charts. She's worked her way up to the 10th percentile and is in the 50th percentile for the length to weight measurement. These are good signs! (sigh of relief.. followed by a big WOOHOO!) He also noted how much better Maddie's trunk control has gotten and he saw improvement in the fine motor area as well. Anyways, Maddie was sitting on the exam table and was tired of being poked and prodded, so what does my beautiful little baby do? She reaches her arms out to me and says "mom...mom...MOM" It was clear as day! The Dr. looked at me with a dumbfounded amazement. I grabbed my little one so fast and hugged on her! I didn't realize just how sweet a simple three letter word could sound. Of course, the whole way home George was in the drivers seat saying "Dada Dad Dada" OVER AND OVER AND OVER again Haha!!

The Nerve of That Nurse!

I called Maddie's GI doctor yesterday to re-fill her Prevacid prescription. (I only had enough left for this morning). They passed me through to the nurse who looked up Maddie's file and this is how the conversation went: Nurse: "Ummm, I don't think the Dr.'s going to do that", Me: "Why not?" Nurse: "He wants to do enteral feedings" Me: "Huh? What do you mean enteral feedings?" Nurse: "Based on his research and findings he'd like to install a feeding tube." Me: "What were his findings?" Nurse: "I cannot discuss that with you, you'll have to talk to the Dr." Me: "Can you fill her prescription in the meantime? Tomorrow is the last dose I have. I'd prefer to keep her on the meds until the Dr. and I discuss whatever it is he's discovered" Nurse: "No, I told you I can't", Me: "Can you talk with the Dr. to see?" Nurse: "I can try, but like I said I really don't think he's going to do it". Two hours later.... ring, ring... Me: "Hello", Nurse: "We have a sample packet of Prevacid ready for you to pick up".

"Research and findings... tube" I'm really upset about this. I have an appt tomorrow, but I think the nurse should've approached the situation a little differently! How about "The Dr. would like to try a new treatment method and I see you have an appt Friday, so you guys can discuss it then", instead of leaving me with this doomed feeling. They did blood work at the hospital two months ago; maybe something showed up there??? I hate not having enough information... I WANT TO KNOW NOW!!!

Humble and Thankful

Having a 'delayed' child and what I've faced over the past 11 months has been the most humbling experience in my life. "I've realized the world doesn't revolve around me and there isn't a sacrifice too great that I wouldn't give to make my child better." I've realized the life i've taken for granted and in that I've learned gratitude. Being truly grateful has made me realize what I do have is enough.
What do I have?
   I have the best kind of husband... the kind that continues to love me throughout the worst of times, including those times when I'm just plain unlovable.
   I have a mother who's inspiring. I don't have to ask for help or support... she just knows and is there when I need her in a heartbeat. I hope I can be half the mom to Maddie as she is to me. The Greg has helped shaped me into who I am too.
   I have a father and another mom (yes, I'm blessed with two) who are amazing as well, I may not be a little girl, but I still hope to be like them when i grow up ;0)
   I have a job, and it's not just a job, it's a house full of friends. (I work at a casino, and that's our advertising slogan) I had to throw that in... I crack me up LOL ;0) But really, my co-workers are becoming more and more like family. They might not even know what I'm up against, but their thoughtfulness and nice gestures have given me a lot of strength. My boss is pretty admirable himself: he's compassionate, understanding, and generous. I have a great repor with him, which makes coming to work a good experience.
   I have the BBC board. Did you know I'm not the only one who's experienced such chaos with a child? This is an amazing group of women. They are strong, supportive, and have given me some pretty incredible advice. I've never met any of them face to face, but they've changed me.
   I have a beautiful baby girl. It's too bad there's not a milestone for smiles, because hers would top the charts. I know I've written a lot about the frustrations/headaches Maddie's given me, but at the end of the day I LOVE BEING MADDIE'S MOM. I've learned the enormous capacity the heart has to love from her and that's a beautiful thing.

One last thankfulness line and I'll wrap this up (I have great friends and extended family as well, but they know they're awesome and I love them so i won't get carried away and go on and on like I could) So, that last line which many of you may not know... I'm wealthy.
(No, I don't have much money in the bank... do you know how expensive Dr's and hospitals are, good grief!) But, I am wealthy, and if you still don't know just how wealthy I am, go back and start reading from the top! The people in my life are amazing!

HAPPY THANKSGIVING everyone ... gobble gobble!

-the quote above in italics was said by Maureen, She's pretty great too! I thought that quote was profound so I plagiarized it! Those may of not been her exact words, I don't know.... but it's profound!

LISTEN TO THE MUSTN'TS

Listen to the MUSTN'TS, child,
Listen to the DON'TS
Listen to the SHOULDN'TS
The IMPOSSIBLES, the WON'TS
Listen to the NEVER HAVES
Then listen close to me --
Anything can happen, child
ANYTHING can be.

by: Shel Silverstein

I can’t wait to share this with Maddie… She’s going to hear this one over and over and over again. ;0)

I so badly want her to just get up and crawl. She’s been up on all fours rocking for over a month, but she just doesn’t quite have the coordination to put it all together. She did ‘army crawl’ a few days ago. It took a big motivator like giving her a sip of apple juice, then setting the cup halfway across the room to get her going. I LOVED watching her go. She beamed with pride when she reached her destination (the cup). I happily gave her a few sips then moved back to other end of the room and set the cup down… she was determined. It was Bliss! And she did it again! She did it 3 times. I wish I would’ve had the camcorder out. George was watching too…rootin’ her on. I haven’t had any success since then. She decided apple juice is overrated and too much work. We’ll keep at it though.

I’ve been replaying the comments the Neuro made about Maddie’s development and Rett syndrome. It’s like I’m lost in this indeterminate state. One day I’m extremely positive and hopeful thinking that guy was out of his mind. Then without so much as a trigger, my patience runs thin and I feel this impeding doom about the whole situation. I so badly want her to prove them all wrong. It’s tough not having a diagnosis. We’re in limbo. The fear of the unknown and how it’s affecting my child leaves me with a lump in my throat. That’s just it though, it’s ‘unknown’, which leads me back to the hopes that whatever it is, Maddie will ‘outgrow it’ and ‘catch up’. Are you still following me? If not, it’s okay, it’s not you, it’s me…. I’m up then I’m down, the important thing is that everytime I’m down I get back up. Maddie has made tons of progress, and she CAN and WILL continue to do so, regardless of whatever expectations a neurologist who spent 15 minutes with her might have. I love Shel Silverstein… I really needed to read this poem today, and like I said above… I can’t wait to read it to Maddie.

The Honeymoon is Over….

Maddie’s back to her old feeding ways and has been for a few days. I’m irritated, frustrated, annoyed. (I think you get the point). I called Dr. Gregory yesterday…you might remember him from my last post, Maddie’s GI Specialist and my hero. I just knew he’d know what to do! I talked with one of the nurses. I told her the urgency of the situation… I know I sounded desperate, because I was. She informed me that I’d be better off making an appt to see Dr. Gregory in the clinic. By the time he’d get around to returning my call, I’d of already been seen. I agreed and asked when the next available appt was. Her response almost knocked me off my chair… two weeks. She apologized and explained that he is a busy man, etc… blah blah blah! Hello, this is my daughter and she needs nutrition… two weeks is tooooooo long! I hung up more annoyed than I was to begin with. In fact, irate would be the perfect word to describe how I felt. The Honeymoon is over… I want a divorce. I called Maddie’s Pediatrician, bad mouthed Dr. A-hole, asked her if she’d refer me to another GI Doc. “He’s the only one, you’d have to go out of state.” I then called my husband, my mom, a friend…. How can he get away with this? I truly thought he genuinely cared about our situation. After tossing and turning all night, I get into work this morning to see that button lit up telling me I have a message. I ignore it… I hadn’t had my coffee and was still moody. In the meantime, George took Maddie to Dr Diedrichsen’s office. She’s the pediatrician… She’s amazing, but I’ll save that for another blog. He took Maddie to get her flu shot at 9 am. They did a weight check and believe it or not, Maddie still gained weight. We’re now at 15 lbs 4 oz. Woohoo! Lets go back to that message now, I played it…. The message was recorded at 6 pm last night and guess who? That’s right, it was Dr. Gregory concerned about Maddie. HE DOES CARE! He even stayed late to call! I had left my work number with the nurse… oops! Now I feel like the A-hole. Moral of the story: Quit flipping out! Maddie has an amazing team who’s looking out for her best interests. Oh, and did you know that a couple days of poor feeding is normal considering we have our first tooth, actually first 2 teeth, poking through?

Nothing Short of a Miracle

I'm in tears as I'm typing this. Not the same tears I've become oh so accustomed too these past few months... they're happy tears. We just got home from Maddie's follow-up appointment (see below post). They changed Maddie's meds (appetite enhancer & new reflux meds) while we were at the hospital, and her eating really did improve. In fact, it almost doubled! We went from a struggling, lips pursed, screaming child during feedings (barely getting 16 oz down a day) to a hungry HAPPY feed me every 2 hrs little piggy ;0) I knew she had to be gaining weight... but today was the ultimate test... THE SCALE! (Drum roll please) ................................................... She's gained 1lb 2 oz since we left the hospital 9 nine days ago (yes, you read that right ONE POUND TWO OUNCES a 9% increase). This is nothing short of a miracle! Note to the ones who solicitated your unwanted advice about how medicine just masks a bigger underlying issue: Kiss my you know what....My little girl is growing! I've made another appt with Dr. Gregory (He was one of the GI specialists we saw at St. Mary's). I just want to give the guy a hug!! Yep, I'll make the $50 co-pay just to hug Dr. Gregory. I heart Dr. Gregory!! Sorry to cut this post short, but this is cause for celebration. Maddie and I are gonna go eat some ice cream ;0)

My Heart Hurts!!

Maddie was admitted to St. Mary's Hospital on Monday morning. She had been vomiting so we took her to the Dr. just to get her checked out. They thought it could be possible H1N1 and wanted to take all precautions. My husband told the Dr. if she was going to admit Maddie he wanted her tested for everything... that I was going crazy, losing my mind with the 'what-if's', the trips to the specialists... all the tests and procedures. He wanted all the Dr.'s and Specialists to put their heads together, do all the tests they could possible think of; and figure out why our daughter isn't growing/gaining weight the way she should. The Dr. said ok and she lived up to her end of the deal. When we got there they put Maddie on an IV, drew blood, and took a urine sample. The only abnormality was elevated liver enzymes, which they weren't too concerned about because the stress her body was under being sick and all. The neurologist came in to play with Maddie and ordered a round of tests for day two. They starved her... no formula or food for 27 hours. Maddie was pissed... I've never seen her so upset. We spent the night trying to console Maddie who hyperventilated herself to the point of being put on oxygen. I wanted to feed my hungry baby so bad. Her blood pressure escalated to 128 over 70... I'm not good with those kinds of numbers but know enough to know that it wasn't good. I begged and pleaded with the nurses to let me feed my baby. There was no budging. Good thing George was there... he kept me strong. They did another round of blood work early in the morning on day two. Then later that afternoon we had the MRI. No big deal right... just general anesthetics. We waited for 45 minutes when the door burst open, the anesthesiologist, 2 nurses, and a physician came storming out and proceeded power walking down the hall pushing maddie's crib. I stood up... and saw Maddie lying there with tape over her eyes not moving. I panic'd... felt my knees go weak then it was like I lifted out of body and was watching a movie from the corner of the ceiling. Somehow I found strength ...I ran after them. When I caught up a nurse apologized saying they had to do a CAT scan before Maddie woke up. I wanted to hit the nurse. They put tape over the eyes to keep the mucus sockets from drying out. All was okay except my BP elevated. The results from both tests were normal... and I was finally able to feed my precious LO. She downed 7.5 oz... had never seen her eat that much let alone be willing to take a bottle. Then they came up for the barium swallow test. Of course she wasn't hungry for it, but they were able to get enough down to see that her mouth and throat were okay. Next it was an upper GI scan, which she wasn't supposed to eat prior too... oops no one told us. They shoved tubes down her nose... she threw up... so much for finally eating... they postponed the test for day three. Day three (today) consisted of more blood work, the upper GI scan, and an EEG. The GI scan showed moderate to severe reflux (we already knew this), but other than that all was well there. The EEG was an experience. She had 26 prongs connected to her head then as Maddie's screaming just leave me alone y'all have done enough tests, the tech tells me that he needs her to sleep through it.... an hour and a half test. Did I mention Maddie had just woken up from a nap when the equipment was brought it? My anxiety rose, but my hubby was calm and relaxed Maddie to the point where the tears stopped. The tech put Maddie in my arms, told me I needed to keep her in view of the camera, and asked me if I was comfortable. Maddie slowly drifted off... I felt my eyes getting heavy. We woke up, a lamp flashed overhead a few times and the test was over. At around 6 pm our Pediatrician came in. She said the game plan is we're changing Maddie's reflux meds and giving her an appetite enhancer. It'll be 3-4 wks before we get the results from some of the blood work. She said she'd write up the discharge papers and we could be on our way. (Follow-up appt in her office next wk). I was relieved (and a little disappointed.... still no answers). Literally right as we're walking out the door the phone in the room rang. I thought it was financial services and almost didn't answer, but I did. Nope they weren't hounding me for money... it was the neurologist. He thinks it's a possibility Maddie has Rett Syndrome... I can't breathe... the test is one of those that won't be back for a few weeks. I'm so angry... why suggest it... why not stay silent until there's a positive test... some hard core evidence. RETT SYNDROME? I'm back to being a wreck... I need a cocktail! How can I possibly wait weeks for the results... this last hr has gone by so slowly. Why did I answer the phone? I'm exhausted! My poor baby... why you? Why do you have to go through all this?

First Things First

I married my soulmate... my best friend actually. He's a guy who isn't intimidated by a little housework/yardwork, can cook up a great meal, isn't afraid to get his hands dirty, and knows his way around under the hood of my car. (wink, wink) .. no he really is good at working on cars, but I know what y'all were thinking...sickos ;0) Anyhoo, he completes me. We're blessed with 4 beautiful daughters (3 are my stepdaughters, but I don't like that word).  The youngest of the four, Maddie, was born last December and wow, what a rollarcoaster we've been on ever since. She's an amazing beautiful little girl who lights up my life. But there is a problem...she won't grow. The anxiety and frustrations that come with this are... well... you'd have to have a child with similar issues to fully understand the complexity of it all. We've had over 30 Dr's visits, not including a few trips to the emergency room and a hospitalization. She's been tested for everything from cystic fibrosis to metabolic disorders... all returning normal results. All they can tell us is she's hypotonic (less than normal tone and tension). Glad we're paying the big bucks for these Dr.s because my hubby and I pointed that out long ago....They just came up with the fancy name. We're still on a quest for answers (she has a barium swallow test at the local hospital next week). Hopefully that will explain what's going on during feedings. With all the tests she's been through, it hasn't phased her spirit! She is one happy smiley little peanut! And as for the 'low tone', ... Maddie is sitting fully unsupported and able to go from her tummy to a sitting position. This was something they said wouldn't happen for quite some time... SHE SHOWED THEM! Go Maddie Go ;0) She's up on all fours now too... I think she'll be crawling in no time!