Monday, January 22, 2007

Donated to Locks of Love

On Saturday, I got my hair cut. And when I say hair cut, I mean huge amount of hair cut off. ha ha Here is the BEFORE shot, taken with Gracie's digital camera:

I had 12 inches cut off to make 5 pony tails worth of hair to be donated to Locks of Love ( I guess you could say that I have a bit of hair shock, but I'm so happy I did it.

When Meghan was born and needed 3 transfusions, I wasn't able to donate blood to her because I had just given birth. I decided then that I would grow my hair out and donate it because it seemed to be all that I could do in those scary NICU days.

Well, the day finally arrived and a little over 2 1/2 years later, my hair is now gone. I need to mail it off to be made into a wig.

Tuesday, January 16, 2007

Discharged from NICU Follow-Up Clinic

Today, Meghan had her 30 month adjusted check up at our NICU's follow-up clinic. I was so happy because Meghan's chief neonatologist, Dr. Ragatz, was on the follow-up clinic rotation today. It was nice to see him again, and he said it is so rewarding to see his former micros succeed.

We received the best news today. They feel that Meghan has come so far that they no longer are talking to us about cerebral palsy (CP) anymore. Her asymmetry (left-sided weakness) is virtually gone with just a tad in her left arm, which they feel should continue to fade to none with some more time and physical therapy.

WOOHOO!!!! This is such a relief. I can't tell you how many times I mulled over and cried about her possible CP over the last year. This is seriously the best news for Meghan. I'm so happy that I feel like I'm floating on air. Can ya tell I'm happy? :)

Today, Megs received an OT consultation using the Bailey scale. Her assessment came out to be a 34 month old. Another WOOHOO moment.

Finally, they gave us her height and weight. DRUM ROLL please!!!!!!!!!

25 pounds 1 ounce
33 inches

She is in the 29 1/2 percentile for height, and in the 25th percentile for weight. WOOHOO

I can barely believe this. Way to grow Meghan! Gotta love cyproheptadine.

They discharged Meghan from follow-up clinic, and asked us to submit our story to our hospital's Little Angels foundation for both Meghan and Grace. We've been visiting the Follow-Up clinic since Grace was born so they've gotten to know us pretty well.

Thanks for "listening" to my glowing report. I promise I'll be more humble next time.

Proud Mama Jen

Monday, January 15, 2007

Jen's Lense

For those of you who wonder about my experience with preeclampsia, please read this post from one of my Internet pals and heros:

This account is so eloquently stated and elaborated on how most women who've had preeclampsia feel.

Saturday, January 13, 2007

Gene Chip Discovery

This is so cool! I wonder if Alpha-1 is one of the hereditary diseases for which the gene chip tests. WOOHOO for Cincinnati Children's. UPDATE: the chip does test for Alpha-1. This is so awesome! :)

December 22, 2006 - Gene Chip Discovery May Lead to Individualized Treatment for Five Hereditary Liver Diseases
Research Published in the Journal, Gastroenterology

Researchers at Cincinnati Children's Hospital Medical Center have developed the first gene chip to use in the early diagnosis of at least five hereditary liver diseases, to detect genetic causes of jaundice in children and adults, and potentially to lead to personalized treatment options.

The chip, termed the "jaundice chip," is nearly 100 percent effective in the detection of the most common mutations in children with inherited causes of jaundice, according to a new Cincinnati Children's study in the January issue of the journal Gastroenterology.

"Other chips have been developed to assess drug metabolism," said Jorge Bezerra, MD, a pediatric gastroenterologist at Cincinnati Children's and the study's lead investigator. "This is the first chip in the world that has been customized to diagnose genetic mutations in patients with inherited types of liver diseases."

The chip uses a new technology that rapidly and accurately discloses the composition of several genes known to cause liver disease in children and adults. "The jaundice chip may also help us to discover whether subtle changes in these five genes that can cause devastating diseases in children may also modify the clinical course of other common liver diseases in adults," said Mitchell Cohen, MD, director of the Division of Gastroenterology, Hepatology and Nutrition at Cincinnati Children's.

Jaundice is a yellowing of the eyes and skin caused by impairment in bile flow from the liver to the intestine. Impaired bile flow, or cholestasis, commonly known as jaundice, can lead to severe liver disease. In children, jaundice and cirrhosis are responsible for more than half of the need for liver transplantation.

Previous research on humans identified five genes responsible for inherited forms of jaundice. Until now, the broad array of causes of cholestasis including genetic, metabolic, inflammatory and drug- or toxin-induced disorders, created a challenge for physicians to diagnose a specific disease. Therefore, the treatment of affected children was not disease-specific and aimed at optimizing care to help reduce liver transplantation. With the jaundice chip, however, diagnosis can be simplified by surveying the genetic code for mutations in specific diseases.

The jaundice chip was designed as a "five-in-one" gene chip to screen mutations (a permanent change in the DNA sequence that makes up a gene) in five genes using only one milliliter, or less than a half of a teaspoon, of blood. Gene chips contain several thousand small fragments of DNA on a small piece of glass. Incubation of these chips with the patient's DNA sample produce chemical signals that "glow" and allow for the detection of the normal gene sequence, or of mutations if they are present in the patient.

"The jaundice chip is an extraordinary advance for our patients with liver diseases. It will improve diagnostic accuracy for perplexing diseases in infants and children, potentially decrease the need for invasive and costly studies, and allow us to develop specific treatment plans based on the correct genetic diagnosis," said Dr. Cohen.

"With further genetic testing of liver disease, there is the potential that medications can be tailored to meet the needs of individual patients taking into account the patient's genetic make-up," adds Dr. Bezerra. "For now, the use of the gene chip gives families piece of mind, knowing what their child is living with. The next focus of advances will be the development of medication that may block progression of their disease.

Today, detection of liver diseases with the jaundice chip is continuing, using samples from children worldwide through a research protocol in the division of gastroenterology, hepatology and nutrition at Cincinnati Children's. Once approved by the Food and Drug Administration, the potential for wider use is limitless, according to Dr. Bezerra.

The discovery of the jaundice chip was made possible through a grant from the Research Foundation at Cincinnati Children's with additional support by the National Institutes of Health (NIH).

Cincinnati Children's Hospital Medical Center, one of the leading pediatric research institutions in the nation, is dedicated to changing the outcome for children throughout the world. Cincinnati Children's ranks second among all pediatric institutions in the United States in grants from the National Institutes of Health. It has an established tradition of research excellence, with discoveries including the Sabin oral polio vaccine, the surfactant preparation that saves the lives of thousands of premature infants each year, and a rotavirus vaccine that saves the lives of hundreds of thousands of infants around the world each year. Current research directions include the translation of basic laboratory research into the development of novel therapeutics for the treatment of disease, and furthering the development of personalized and predictive medicine.

Thursday, January 11, 2007

Angiotensinogen and Alpha-1 Antitrypsin Genes

I found this study abstract on PubMed. It is intensely interesting to me because I have a form of hypertension that falls into the angiotensinogen category, and I also carry the MZ Alpha-1 gene. People who have the angiotensinogen gene have increased risk for developing preeclampsia. I wonder how all of this works together. I suppose I'll never know since I'm not a doctor, but I'll always had reason to suspect I developed PE in relation to my Alpha-1 status. Scientists are always talking about modifier genes...thoughts that make me go...hmmmmm.

J Biol Chem. 1984 Jul 10;259(13):8063-5. Related Articles, Links
Common structural organization of the angiotensinogen and the alpha 1-antitrypsin genes.

Tanaka T, Ohkubo H, Nakanishi S.

A rat genomic DNA segment containing the angiotensinogen gene has been isolated from a gene library by hybridization with a restriction fragment derived from a previously cloned cDNA for rat angiotensinogen. Restriction mapping and nucleotide sequence analysis of the cloned DNA fragments have indicated that the rat angiotensinogen gene is approximately 11.8 kilobase pairs long and consists of five exons separated by four introns. Because it has recently been reported that the sequence of angiotensinogen significantly resembles those of alpha 1-antitrypsin and ovalbumin and also that the exon-intron arrangements of the alpha 1-antitrypsin and ovalbumin genes are completely different, this study compares the structural organization of the angiotensinogen gene with those of the alpha 1-antitrypsin gene and the ovalbumin gene. The comparison has revealed that the four introns of the angiotensinogen gene are all located at the positions equivalent to or corresponding to those observed in the alpha 1-antitrypsin gene, suggesting that the angiotensinogen gene and the alpha 1-antitrypsin gene have diverged from a common ancestor gene. This finding raises interesting possibilities regarding the biological function of angiotensinogen and the evolution of the angiotensinogen gene.

Publication Types:
Comparative Study
Research Support, Non-U.S. Gov't

PMID: 6330095 [PubMed - indexed for MEDLINE]

Monday, January 08, 2007

Confessions of a Former Little Girl

Let me start off this posting by saying that I'm blessed to have 2 beautiful children. I love them very much, and try to cherish them every day.

With that said, I also want to say that it has been quite rough in the land of B family parenting lately. I swear if I hear one more little girl scream come out of the mouths of my girls, I think I might scream my way all the way to the funny farm.

"No, its mine."
"Nut uh!"
"Yes, Dace!"
"No, Meghan!"
(Insert high pitched, ear drum piercing 2 year old scream here followed by even more annoying high pitched, brain draining 4 year old scream here.)

That is just a sampling of a conversation that seems like it has been put into reruns in our every day lives.

I keep wondering just what exactly we've done wrong as parents to have such ungrateful, unloving children. I'm sure these are not unique parental feelings, but can I just say "Ugh!"

And to my mom and dad, I'll just add one last thought:

I'm sorry for any past pain and suffering I caused you by screaming one of those little girls screams in my childhood. I swear I did not know what it did to you, but I probably did know what it did to my loving lil sister, Kristen.

(Insert sound of my parents laughing their asses off here.)

What's that phrase? Ah...ain't payback a B@#$%?

I'm LOL or else I'll scream my head off at the girls.

Anyone know anything about sensory integration disorder? Inquiring minds want to know...

Thursday, January 04, 2007


Viniman instead of minivan

Dace instead of Grace

Mary had a lipple lamb

I'm a kitty!
Really Meghan, you're a kitty.
Uh huh.
What color kitty are you?
I'm a pink kitty.
What color am I?
What color is Daddy.
What color is Gracie?
What color are you?