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!!!