Thursday, May 29, 2008

Ultrasound

Grace's ultrasound went well today. She cooperated well, and she wanted to watch the screen as the radiologist rolled the wand around on her neck. Charlie held her neck, and I held her hand. She was really good. We're proud of her.

The great news is that her thyroid gland is in the correct location. The radiologist also felt that the cyst was a thyroglossal duct cyst as well. So there seems to be a consensus. :) At its biggest measurement, the cyst was 13 mm. I think that is correct measurement, at least.

At the end of the visit, Grace got to pick out a stuffed animal. She chose a cute horse.

So Grace is now all set to have her ENT doctor schedule the surgery. We'll wait to hear when it will be scheduled. There probably won't be another update for a few days.

Wednesday, May 28, 2008

No Ultrasound Today

Yesterday when we met with Dr. M's nurse, she gave us information about getting an ultrasound on Grace's neck. She informed us that we could just drop into a pediatric radiology clinic and get a scan anytime.

Nope. Not correct.

We arrived there today to have the receptionist inform us otherwise. So, we've scheduled an appointment for 2:45pm tomorrow. We're only delayed by one day, which isn't bad.

Gotta love medicine.

Tuesday, May 27, 2008

Thyroglossal Duct Cyst

It turns out our pediatrician's best guess of a birth defect was right on the money.

Grace visited the ENT today, and he feels that the lump in her neck is something called a thyroglossal duct cyst. A thyroglossal duct cyst is a neck mass or lump that develops from cells and tissues remaining after the formation of the thyroid gland during embryonic development. This type of cyst is a congenital (present from birth) defect. When the thyroid gland forms during embryonic development, it begins at the base of the tongue and moves down the neck through a canal called the thyroglossal duct. This duct normally disappears once the thyroid reaches its final position in the neck. Sometimes, portions of the duct remain leaving cavities or pockets called cysts. This is the ENT's first guess.

Outside of that there is another possibility, which is that of a dermoid cyst. A dermoid cyst is a pocket or cavity under the skin that contains tissues normally present in the outer layers of the skin. The pocket forms a mass that is sometimes visible at birth or in early infancy but often is not seen until later years. Dermoid cysts are usually found on the head or neck, and sometimes on the face. (My close friends and family may remember that I had a cyst like this except it was on my ovary and had to be removed when I was in my mid-twenties.) A dermoid is also congenital.

Either of these two cysts require surgery since it is likely the cyst will keep growing and growing. If it turns out to be a thyroglossal duct cyst, the surgery performed will be the Sistrunk procedure, which removes part of the hyoid bone (which holds the base of the tongue up inside your throat) along with the entire duct and cyst. According to Dr. M, she won't "miss" the bone. If it turns out to be a dermoid cyst, he said the surgery is actually much less involved and simpler.

Dr. M informed us that he really won't know exactly what the cyst is until he removes it, and it is sent to pathology. Grace will have an ultrasound on her neck tomorrow after school, and then depending on the result of that ultrasound, her surgery will be scheduled.

So now that I've gotten to the medical definition of all of this, how does this make Gracie feel?

During the appointment, Dr. M immediately noticed that Grace appeared afraid as he was describing what would need to happen. Her lip was quivering, and she had two of her fingers in her mouth. This immediately made me tear up a bit, and I put Grace on my lap to cuddle her a bit. I quickly suppressed that feeling. Charlie and I exchanged a quick look at each other to communicate our unified feeling of "oh crap." We were hoping this wouldn't come to surgery as Gracie has never been put under before. It was a relief to see the ENT pay close attention to Grace, though. To me that was a sign of his compassion for children. God bless children's doctors.

Grace is already asking us questions, and isn't too pleased with needing to sleep overnight in a hospital. We, of course, told her that she wouldn't be alone. She liked the idea of bringing her favorite blanket, pillow, and her cuddly Danni kitty.

Tomorrow's ultrasound will determine the size and scope of the issue in Grace's neck. It will also determine if Grace' thyroid is in the correct location in her neck.

Surgery will be scheduled after the results of the ultrasound and when Dr. M can fit his schedule together with one of his partners for the surgery. We are still in a watch and wait situation, but we know more now. The good news is that she is safe for now, and these cysts are almost always benign. Thank goodness for that. :)

I'll update here as we find out more. Thanks in advance for your good thoughts and prayers.

Monday, May 26, 2008

Time with my Gracie Girl

I've had the whole weekend with just Gracie. It has been a fun time for us. We spent a lovely day with Aunt Kristen, Uncle Bob, Chloe, Molly, and Trey. The girls played pretend wedding outside with bunches of slips from the lilac bushes. Their processionals were amusing. Grace had a great time especially with Molly, but like most good things, they eventually end. Molly had had enough of Grace and finally told her that they were no longer best friends anymore. Ah the drama of childhood...

Yesterday, we shopped for summer clothes. Yes, I did my part to stimulate the economy. haha Grace was a bit more interested in shopping this time. I keep waiting for her to become a stereotypical girl who loves to shop, but it just isn't happening. Her dad would be so proud.

We also stopped at a road side market to purchase some flowers for our yard. I let Grace pick out an entire flat of her own choices. She made some choices that I would have never made. I love how she influences me to think outside of my own box, and I suppose that I do that for her as well.

The quote of the weekend though was:

"Grace, please pick up your bowl and bring it to the sink."

Grace replied with, "You have hands."

Grrrrrr! Needless to say, Grace picked up the bowl; however, she decided it would be appropriate to throw it and its contents onto the floor in response to my scolding her. I love my little independent child, but sometimes she can grate on your last nerve. Perhaps we've had too much one-on-one time too?

She received a time out and learned how to run a vaccuum cleaner for the first time so she could clean up the mess. She wasn't happy with me at all, but I'm doing my job as her mommy. ;)

We still have many flowers to plant today, and we are very excited that Charlie and Meghan will be home tonight. They are returning from a trip North to the family cabin. Gracie has been very lonely for her built-in playmate, Meghan.

Tomorrow is Grace's appointment with the ENT, and we are anxious to finally determine what is causing the cyst in her neck. Please think good thoughts for us. Thanks!

Enjoy the photos we took of our flowers. The first photo is a picture of Grace's flower boxes, with all the flowers she chose.







We still have a lot to plant! I think I need some periennials.

Friday, May 23, 2008

More Courage Through Sharing



CMCblogcarnival

For the monthly blog carnival, Finding Courage Through Sharing, the carnival host Michelle gave a topic of sharing something that you wish other people understood about your life with a child or children facing medical challenges. Well as a parent to two former premature babies who also happen to have a liver genetic disorder called Alpha-1 Antitrypsin Deficiency, I could go on and on about this subject. Nonetheless, I decided to focus on their former prematurity for this entry.

Prematurity does not end when a baby is discharged from the neonatal intensive care unit (NICU). Preemies do not catch up by the time they are 2 or 3…perhaps in size, but not in the way their brains have been shaped. Prematurity is life long. Premature babies have brains which are wired differently that full term children. This is because they have to deal with sensory input long before their brains are ready to deal with the information they are processing after birth. You may have heard about NICUs that keep the lights down low, encourage a quiet tone of voice, and do such things as placing bags of IV saline next to the babies to make it feel like they are in the womb. While I applaud these efforts, they aren’t the same as a good, old fashioned womb.

There are many sources of misinformation to contend with as a parent of two former preemies such as urban legends, media, or your neighbor down the street. Former preemies are not the same or “just like” their full term counterparts.

Both Grace and Meghan contend with the invisible scars left from prematurity. As their mommy, my job is to help them with learning coping strategies for their preemie battle scars.

Grace’s early birth brought on sensory processing disorder. While some of her sensory seeking behaviors may be very appropriate for her age group, Grace’s go further. How many six year olds do you know that actively still seek out exploring the world using their mouths? Poor dear husband, Charlie, was on the receiving end of a juicy lick to the upper arm the other day. She also is a bit like Dino from the Flintstones. When she runs up to you, she doesn’t slow on her approach. She comes on in ramming speed motion, and has knocked me over several different times. Then, there is the ever-so-fun need to approach you to say something, and then without warning, jump head first into your mother’s or father’s chin. Ouch!


Grace needs a very active sensory diet through which she can subdue her need to touch, feel, and experience things through her senses. My husband should have gotten the “husband of the year” award last year when he brought home a swing set complete with a slide. Grace needs to swing, run, jump, and play like an addict needs his/her next fix. This activity calms and soothes her brain’s needs for sensory input. Yes, I do know that this sounds like an average case of attention deficit disorder, but it is not. Grace can pay attention for hours if she wants.


Meghan’s early birth provided her with general low tone throughout her body. For many years, we were in the “watch and wait” dance to determine if Meghan had a mild case of cerebral palsy. The left side of her body actively “drooped” compared to her right side. Many, many sessions of physical therapy later, her strength has improved. Hallelujah! We were even told that the cerebral palsy issue was resolved. It is another reason for us to rejoice. In any case, I do pay homage to Grace’s contribution to Meghan’s low muscle tone and poor reflexes. Since Grace is so sensory seeking, Meghan now has lightning fast reflexes. She has to. Grace will literally bowl Meghan over otherwise.


Prematurity has consequences that can’t be erased or ignored. Many individuals do not understand this. Now that I’ve said this, I want to make it crystal clear that I do consider my children to be miracles, and I wouldn’t change them. They are my heart. They are my pride and joy. They have boundless love, and I return that to them everyday.

Yes, preemies are medical miracles, but you should not expect any preemie to come away from their early birth unscathed. Prematurity leaves battles scars. Some that can be seen, and many others that are unseen. My daughters have some physical scars, but the majority are unseen scars.

I’ll leave you with a final picture of my beauties.

Here I Am

I finally took a new picture of myself. I'm not overly fond of having photo shoots, but the Alpha-1 Association wanted a picture of me for an upcoming conference. I took these myself in my dining room. haha





Wednesday, May 21, 2008

Yep, you can laugh at me

...but I was so excited that David Cook won American Idol. I hope to buy his CD someday.

Appointment Changed

Grace's ENT appointment on Friday was canceled. I'm struggling with the wait, but Grace is quite unaware, which is good.

We've got a new appointment for 4:30pm next Tuesday.

The cyst now appears to be slightly larger, but nothing shocking. C'mon Tuesday! Get here soon!

This mama needs some answers.

Celebrate!

Alpha-1 Foundation, Association Celebrate GINA signing; Plans Under Way to Discuss Implications, Opportunities for Alpha-1 Detection

MIAMI – The Alpha-1 Foundation and Alpha-1 Association today applauded President Bush’s signing into law the Genetic Information Nondiscrimination Act (GINA), and began making plans to take action based on the new federal legal protections.

Under GINA, companies would no longer be able to use genetic information such as a person's predisposition for lung disease, breast cancer, sickle cell or diabetes to make insurance or job decisions.

“Our community has been involved for more than a decade in the effort to bring this essential legislation into law,” said John W. Walsh, President and CEO of the Alpha-1 Foundation and President of the COPD Foundation. “We’re all celebrating a giant achievement today.”

According to Jan Petersen, Chair of the Alpha-1 Association, “the Alpha-1 community has played a significant role in advocating for the passage of this legislation and now celebrates the progress we have made. I thank all of those in the Alpha-1 Community who helped us to get to this point."

“Great news on a hard-fought battle,” said Greg Hules, Board member and Immediate Past Chair of the Alpha-1 Foundation. “The efforts of the many people involved will make a huge difference in the quality of life of those affected with COPD. You know you’re alive when you have the ability to make a positive difference in this world.”

Dennis Pollock, an Alpha-1 Association Support Group Leader from Oklahoma, was at the White House to represent the Alpha-1 community as President Bush signed GINA into law.

The Foundation’s Ethical, Legal and Social Issues Working Group, with representation from its Medical and Scientific Advisory Committee, will be meeting in the next two months to discuss the implications and opportunities that this legislation may present for Alpha-1 Detection, said Marcia Ritchie, Foundation Vice President and Chief Operating Officer.

The working group will also discuss the development of a birth screening workshop to be held in the fall of 2008. This will be a follow-up to the Foundation’s Gordon L. Snider Critical Issues Workshop Series No. 8, “The Impact of Genetic Testing: Ethical, Legal, and Social Issues”, held in October, 2000.

Partners with the Foundation and Association on the initiative to have GINA become law included the Congressional COPD Caucus, co-chaired by Sens. Mike Crapo, Blanche Lincoln and Reps. Cliff Stearns and John Lewis; the American Association for Respiratory Care; and the Genetic Alliance.

The House voted 414-1 for the legislation a week after it passed the Senate on a 95-0 vote. The bill would bar health insurance companies from using genetic information to set premiums or determine enrollment eligibility. Similarly, employers could not use genetic information in hiring, firing or promotion decisions.

Each person probably has six or more genetic mutations that place them at risk for some disease, according to the National Human Genome Research Institute. That does not means that a disease will develop, researchers said, just that the person is more likely to get it than someone without the genetic mutation.

Congressional efforts to set federal standards to protect people from genetic discrimination go back more than a decade, to a time when there were only a small number of genetic tests.

But now, with the mapping of the human genome in 2003, people have access to far more information about their hereditary disposition to potentially life-threatening afflictions such as Alpha-1, cystic fibrosis, Huntington's disease or Lou Gehrig's disease.

# # #

About the Alpha-1 Foundation:
The mission of the Alpha-1 Foundation is to provide the leadership and resources that will result in increased research, improved health, worldwide detection, and a cure for Alpha-1 Antitrypsin Deficiency. For more information, please visit: www.alphaone.org.

About the Alpha-1 Association:
The mission of the Alpha-1 Association is to identify those affected by Alpha-1 Antitrypsin Deficiency (Alpha-1) and to improve the quality of their lives through support, education, advocacy, and research. For more information, please visit: www.alpha1.org.

Tuesday, May 20, 2008

Genetic Information Nondiscrimination Act will become law tomorrow!

President Bush will sign the Genetic Information Nondiscrimination Act (GINA) into law tomorrow. One of my Alpha-1 pals, Dennis, who actively lobbied for this historic legislation will be in Washington D.C. to celebrate the day!

Woohoo!

Thursday, May 15, 2008

Gracie Has a Lump

Two days ago, Grace was sitting at the dinner table and I suddenly noticed that she had what appeared to be a lump in the same place a male's adam's apple would be. She has never had that before so I asked her if it hurt. "Nope. What lump Mommy?"

It isn't red or inflamed, which is good. The thing is the size of an aggie marble, and is becoming more noticeable now. I took her to the pedi today for her 6 year old checkup and to show him. He wants us to see an ENT as soon as possible.

He was trying to talk to me about it, but Grace & Meghan were in the room so I could tell he was trying to choose his words carefully. Essentially, he thinks that an ENT will want to do some imaging, potential biopsy, and he suggested removal. Of course, I googled and that made me feel worse. It could be as simple as a fluid filled cyst...really it could. It could go away on its own. We might just watch it. Yada yada yada. I'm trying not to freak out about the worst case scenario here. The pedi wasn't alarmist, but he seemed to convey a genuine amount of concern, while managing to not alarm Grace or Meghan.

So I guess I'm going to have to "look up" my old friend Denial for the time being.

And, I'm going to ask for prayers and positive thoughts. Gracie is angry that she has to go to yet another doctor for a different reason, but she was on cloud 9 because she came away from a doctor's visit without any shots or tests. I suppose that is something for which to be thankful.

Thanks,
Jen

Tuesday, May 13, 2008

In the Home Stretch

The following article will appear in an upcoming issue of the Alpha-1 News. Please enjoy this advance copy. Alpha-1 Association copyrights apply.

On two recent beautiful spring days, the "Ayes" went up against the "Nays." On their home fields, fans all around the country waited to hear word. Some trolled the Internet for any bit of news. A few monitored C-SPAN to see it for themselves. Some witnessed the events in person. Others went about their day unaware of the goings on. This mother went about her normal work day, but remained distracted hoping for the future of all Alphas. Eventually word began to spread.

In Congressional Stadium, history unfolded as rookies and veterans alike took a swing at passing the Genetic Information Nondiscrimination Act, known simply as GINA. At home plate, each of them answered with an aye or nay. Gradually, nearly all hit a home run to enact this historic legislation. Cheers erupted from fans all around the U.S. The “Ayes” had won the pennant.

Thirteen years after its first introduction, GINA was passed by both the Senate on April 24th and the House on May 1st. We’re in the home stretch now. President Bush is expected hit a grand slam by signing GINA into law. The goal of GINA is to protect individuals against discrimination based on their genetic information when it comes to health insurance and employment. Alphas and those, who have yet to be diagnosed, will be able to enjoy new protections for health insurance and employment.

The hope of GINA is to protect all Americans by prohibiting insurers in both the group and individual health insurance market from 1) “requesting or requiring” genetic testing of an individual or his family or 2) using genetic information to determine eligibility or establish premiums. It further prohibits employers, including employment agencies and labor organizations, from 1) “requesting or requiring” genetic testing of an individual or his family or 2) using genetic information to make hiring or promotional decisions, or when determining eligibility for training programs.

My young Alphas, Gracie and Meghan, don't understand the significance of this historic legislation yet. What they know is they've spent their whole lives growing up with Alpha-1. They understand that support group meetings, blood tests, ultrasounds, examinations, and simple protections for their lung health are normal. They love their adult and child "Alpha friends" alike. They know no other reality. GINA is a beginning for them...a beginning free from a lifetime of possible genetic discrimination. GINA is a beginning for all Alphas…and all Americans. We still have work to do, but Alpha-1 Association members are united together. Go Team Alpha-1! We’re in the home stretch now.

Tuesday, May 06, 2008

Ouch

At the end of March, I came down with a very nasty respiratory flu. (Yes, I got the flu shot like I do every year.) You know the kind. The flu that makes your whole person hurt in the strangest of places and comes with a nasty initial high fever followed by an annoying, lingering low-grade fever. I was miserable for nearly a week with fevers.

After that, I dealt with the after effects of the flu including running nose and coughing. I believe it was the most I've coughed in my entire life within the span of three weeks. My lungs physically hurt and I went to the doctor twice for assistance with how horrible I was feeling.

Anyway, you may have noticed that I've not been posting as often. The flu was the reason. Unfortunately, I am still dealing with horrible side effects. Now, I have coughed my way into a nasty case of "rib pain" along with "chest wall pain." Last Thursday, it was so bad that I actually went to the ER to get some more effective pain management.

When asked to rate my pain, I answered with this: "Right now, it is a 9. When I cough, it is a ten." My doctor pretty much brushed me off and said, "Take Advil or Aleve." Well, my body just sort of laughed at the Advil and kept right on hurting and hurting and hurting, which is why I headed to the urgent care. Sigh.

In any case, the ER doctor was so kind and willing to listen. After several chest x-rays and a d dimer test for potential pulmonary embolism, she diagnosed me with the same thing my primary doctor had diagnosed. Unlike he, she provided me with hydrocodone for the pain and a genuine amount of attention to what I was actually telling her. :) The blessing in that drug is that it is an opiate, which interupts pain receptors plus it acts like a cough suppressant at the same time. Essentially, it knocked me out for nearly 2 days and then I lowered the dosage to 1 pill ever six hours.

Now, the pain is subsiding although still there with movement and coughing. I'm amazed by how much one little muscle between two ribs can reek so much havoc on my body. I also suffer from fibromyalgia, and this has not been good for my other muscles. I'll get through, but I hope and pray this particularly nasty muscle pain and spasm go away soon. The kind ER doctor told me that it could take a few weeks since it took weeks to create the issue.

I guess I'm feeling old lately, but hopefully with Spring in full bloom now in Wisconsin, I'll be back to my old self soon...at least the me that doesn't require narcotics for pain.

Friday, May 02, 2008

Flashbacks

Four years ago, I was on full bedrest in our hospital's antepartum unit. It was day 8 of bedrest, and I had just passed my initial goal of making it to May 1st. We already had 2 April birthdays in our family, and I was hoping that there wouldn't be another arrival...an arrival way too soon for my liking.

My blood pressure was still climbing as severe preeclampsia was deepening its hold on me. I spent most of my time in a darkened room because I had had some uncontrolled twitching where my head jerked to my left side. My doctors didn't want me to have visitors except for my DH, and I couldn't have phone calls since the ringing would set me into twitching mode.

I was resolved to stick it out as long as I could, but I'll be honest. I was secretly hoping that the doctors would say, "it's time." It didn't happen that day 3 years ago, and yes, I did know that more time in utero is better. I knew that, but this was my 2nd horrible experience with severe preeclampisa. I was slowly losing my grip on my sanity as I stayed indoors in the dark, and this was day 8. My next goal was to make it to Cinco de Mayo, the 5th of May, and it looked like I might make it.

I had noticed that my baby was moving around less and less so I took it upon myself to poke him/her as much as I could to keep up the stimulation. This was beginning to bother me and the nurses were beginning to record decels on my non-stress tests and BPPs. My amniotic fluid was dropping off, and at the end of May 1st, 2004, I noticed that my vision was suddenly changing. Straight lines appeared squiggly to me, and I thought, "Oh no, it is happening again. This is what happened when I was pregnant with Gracie 2 years ago."

Gosh I was stressed out, but calm all at the same time. It was sort of a calm before the storm of Meghan's birth on May 3rd. Hind sight is always 20 20, but I hope that I did my best to take care of Miss Meghan that day.