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…