More Courage Through Sharing

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

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.

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!

Grace's Lump

We're visiting a ear, nose, and throat specialist next Friday at 1:30pm at our local Children's Hospital.

Pictures of Grace's lump:

Happy 60th Dad!

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

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.

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.