Thursday, April 24, 2008

Historic Day

I'm amazed. I'm proud. I'm relieved. I'm wondering what the future holds.

The Senate passed the Genetic Nondiscrimination Act (GINA) today. It has been years in the making, and it is finally here. I'm still absorbing all the possibilities that this presents. I'm on cloud 9.

My children won't face a future filled with genetic discrimination. Praise the Lord!

From the Genetic Alliance


Senate Passes Historic Bill on Genetic Information Nondiscrimination
Americans Can Take Advantage of Health Advances without Fearing Discrimination

Washington DC– April 24, 2008 – With overwhelming support the Senate today passed by a vote of 95-0 the Genetic Information Nondiscrimination Act (S. 358). With sponsors, the bill is a testament to a strong bipartisan effort. The Coalition for Genetic Fairness commends the members of the Senate for its commitment to affording comprehensive protections against genetic discrimination.

The Genetic Information Nondiscrimination Act (GINA) paves the way for the responsible use of genetic information while protecting against discrimination with respect to health insurance and employment.

"We are grateful for the bipartisan efforts of our sponsors in the Senate – Senators Edward Kennedy (D—MA) and Olympia Snowe (R—ME) as well as the tremendous support of Senator Michael Enzi (R—WY). They are our champions and are making history today," said Sharon Terry, President and CEO of Genetic Alliance, and President of the Coalition. "Fears that genetic information could be misused hurts individuals, researchers, clinicians, and associated industries. Today, our fears have been addressed."

Marla Gilson, Director of the Washington Action Office of Hadassah, said, "Just 10 years ago, only 100 genetic tests existed. Today, that number has grown to over 1,000 and everyday these tests are helping diagnose thousands of health conditions. Given the Jewish community's historical experiences with genetic issues, we worked hard to see that this bill was passed."

The Coalition has worked for thirteen years toward the passage of legislation to eliminate the misuse of genetic information. Discrimination on the basis of genetic information had led individuals to shy away from genetic testing that could help them manage their health proactively. It also has caused many to opt out of clinical trials for fear that their genetic information would be used against them. This lack of participation has slowed the research and development of treatments and beneficial drugs.

"We now have a huge task ahead of us." said Kathy Hudson, director of the Genetics and Public Policy Center at Johns Hopkins University, "to make sure that doctors, researchers, and the public are aware of the new protections GINA provides."
Just as the House of Representatives did when it passed GINA in April 2007, with 224 cosponsors, S.358 protects Americans from discrimination by health insurers or employers based on genetic information by:

* Prohibiting group health plans and issuers offering coverage on the group or individual market from basing eligibility determinations or adjusting premiums or contributions on the basis of genetic information. They cannot request, require or purchase the results of genetic tests, or disclose genetic information.

* Prohibiting issuers of Medigap policies from adjusting pricing or conditioning eligibility on the basis of genetic information. They cannot request, require or purchase the results of genetic tests, or disclose genetic information.

* Prohibiting employers from firing, refusing to hire, or otherwise discriminating with respect to compensation, terms, conditions or privileges of employment. Employers may not request, require or purchase genetic information, and may not disclose genetic information. Similar provisions apply to employment agencies and labor organizations.

The bill goes to the House, and is assured of passage there as early as next week. The White House has signaled its willingness to sign GINA into law.


The Coalition for Genetic Fairness is an alliance of advocacy organizations, health professionals, and industry leaders working to educate Congressional policymakers about the importance of legal protections for genetic information and ensure passage of meaningful genetic information nondiscrimination legislation.
The Coalition for Genetic Fairness is led by: Genetic Alliance, Affymetrix, American Academy of Pediatrics, American Heart Association, American Society of Human Genetics, Brown University, Hadassah, National Society of Genetic Counselors, the National Workrights Institute and the PKD Foundation.

Coalition for Genetic Fairness • • 4301 Connecticut Ave. NW #404, Washington DC • 20008-2369 • Phone: 202.

I'm Finding Courage Through Sharing

As an avid reader of blogs, I've discovered a gem of a writer in Michelle at In the Life of a Child. She began a blog carnival called Finding Courage Through Sharing. It is aimed at a large community of parents struggling through extreme medical challenges with their children. The purpose of the carnival is to give these parents a voice, a place to connect, to grieve a loss or a setback, to share a concern, a frustration, or to share those rare and wonderful triumphs… and to begin trying to heal. It is meant for any parent who has been through any form of medical challenge with their child, and also for those who are still in the midst of facing those challenges.

This post introduces my fellow participants of that carnival to my story.


At my 20 weeks visit, the ultrasound technician pressed down on my stomach and rolled the wand through the warm jelly. I was excited and straining my eyes to see the grainy images coming across on the monitor. Every so often, I was able to identify my baby's body parts. Colleen, the technician, would say things like, "Here's the heart. That is what we want to see. Nice blood flow. Nice strong beat." My husband, Charlie, looked elated to see our baby growing inside of me. "How big is the baby?"

Colleen replied, "I'll let the doctor go over that with you in just a little while." When it was all finished, she handed me two black and white pictures. We made our way back to Dr. C's office and sat down on the other side of his cherry desk. Charlie inquired, "What do you think?"

I replied, "I'm not sure. I'm nauseous from her pressing on my stomach so much." The pregnancy was really weighing on me. I had always thought that I’d begin to feel better by the midpoint, but it hadn't come yet. I was disappointed. I wanted to be one of those glowing mamas-to-be.

Just then, Dr. C came into his office and sat down behind the desk. He picked up my chart, and began to review the images one-by-one. I noticed that he stopped on one and carefully inspected it, but then moved along to review the others. I was looking for clues to how he felt my baby was doing. His body language revealed something wasn't quite right.

"The baby looks pretty good. Organs are developing appropriately, but the baby's size is small. Also, the overall tummy measurements are too big. You have a low placenta, and we'll need to keep watching this. I'm going to have you come back in eight weeks to recheck the baby's size and the position of your placenta."

I fumbled with my words but finally stuttered, "Oh. Oh. Okay. Is there anything different I should be doing?"

"We've found that women who rest on their left side can improve the blood flow to the placenta. So when you are resting or sleeping, use your left side. Just eat well and take it easy. We'll see what happens in eight weeks."

There it was. It was the beginning of our journey. We had no idea what was about to unfold for our baby.

For the next eight weeks, I did as instructed. I often wondered if I was actually helping my baby to grow. I hoped so. At the next ultrasound, the results again were not great on the baby's growth, but my placenta had grown up and away from my cervix. I also shared that I was now swelling off and on. My hands were chubby. My face was puffy, and, well, I no longer had ankles. Dr. C said, "Lots of women swell when pregnant. Your blood pressure is normal, and you don’t have any protein in your urine."

I'd have to come back in four weeks to recheck the baby's progress. Meanwhile, I began to have headaches off and on. The swelling worsened, but finally I didn't feel nauseous anymore. That was a blessing as all of the rest was unraveling. I prayed and hoped for the best.

At 32 weeks, my stomach had begun to pop out a bit. I waddled a little, and my doctor said that the baby's growth was worse. The baby was approaching falling below the third percentile for weight. "Why do you think this is happening Dr. C?" I inquired.

"Your placenta is not working well. We call this intrauterine growth restriction. This happens sometimes. I’d like you to come back every 3-4 days now. We’re going to do an ultrasound and biophysical profile at each visit."

As I heard this, I wondered when I would really feel what he was telling me. It occurred to me that I should probably feel like crying, but all that I felt was numb. Charlie looked very concerned, but he remained very quiet. I could tell he was pleased with a plan of action to watch the baby. Having grown up with an obstetrical nurse for a mother, I knew what this meant. Dr C just wasn't saying it yet. Our baby was getting into trouble and would likely come early. When I returned home that day, I laid down to my left side and prayed for the health of my baby. I was tired, swollen, hot, and generally uncomfortable.

Within two sets of ultrasounds, I was placed on complete bed rest. The swelling was throughout my body and into my brain. My teeth felt very tight inside my gums, and I could feel my pulse against my teeth. Light was painful to my eyes, and straight lines appeared wavy. At one point, small little fireballs raced across my field of vision. I thought, "What the heck was that?" I blinked in response, but I could see the fireballs even with my eyes closed. As fast as they came, they were gone.

A few times, an uncontrollable twitch jerked my head to the left. I had no idea what had happened, but it stopped. My mom had begun calling me daily from Chicago where she lived. When I told her what happened to my head, she replied, "Jen, I think you are getting preeclamptic. I want you to tell Dr. C what happened. Please hang up now and call him." I argued with her, "Mom, he never said he suspects preeclampsia. My blood pressure is fine, and I have no protein." She calmly replied with love in her voice, "Hon, I know he didn't say those words, but you're having some issues. Tell him. It can't hurt to tell him." My emotions were reminiscent of being a teenager again. I felt rage as my mom's concern became my reality. Why couldn't I just have a normal experience? Why? Why my baby? I didn't understand that my uncontrollable emotions were also a sign of my central nervous system faltering. I didn't get that I had been experiencing small seizures. I couldn't process information as my normal self. I had no inhibitions. Whatever came to mind is whatever came out of my mouth.

As I got sicker, so did my baby. Eventually, it was time to remove the baby from the comfort of my womb to begin the process of ending my preeclampsia. My health was failing. My kidneys were shutting down, and my blood pressures were stroke worthy. I had been hooked up to an IV of magnesium sulfate, was wearing an oxygen saturation monitor on my left index finger, and had an oxygen mask strapped to my face. They were inducing me except that my body wasn't responding well. After nearly 24 hours, I had only dilated to 1 centimeter. Charlie, my mom, and my good friend, Shanna, were with me. Suddenly, my fetal heart monitor began to alarm. My mom instructed me to flip over onto my right side. The alarm kept ringing. I wondered if my baby would die inside of me.

I was wrong. My beautiful Grace Ann was delivered by c-section soon after the alarms began to ring. She was small for 34 weeks gestation but she cried and wailed. I was so relieved to hear her cry. The neonatologist assessed our precious miracle, and briefly allowed my mom and Charlie to bring Grace to my place on the OR table. She was wrapped in a blanket and already had a hat on her head. She squinted under the lamps of the operating room table. As fast as I kissed her forehead, Charlie tucked her inside his arms and rushed off with the team to the NICU.

Nearly three days later, I was finally able to visit Grace for the first time in the NICU. My health status prohibited moving me outside of a dark room and an IV of magnesium sulfate prevented eclamptic seizures. By the time I got to the NICU, Grace’s color was pumpkin orange. She was hooked up to a CPAP machine to help her breathing, and she fretted and squirmed inside her incubator. Unfortunately, I couldn't see her. My vision had been impaired due to hypertensive retinopathy. Essentially, my blood pressure had gotten so high that blood vessels had burst inside my eyes. Disappointed, I held her tiny hand, and tears streamed down my cheeks.

It was just the beginning of our journey as parents of premature babies and of children with a genetic disorder called Alpha-1 Antitrypsin Deficiency. I’ll share more of our journey along the way with you. In the meantime, I'm Jen. I survived severe preeclampsia and temporary blindness twice. I've been a NICU mom twice.

My children are miracles. Their lives are not guaranteed. Their presence in my life reminds me to enjoy life's little interactions. In those spaces is where God's grace shines.

My Grace is now six years old. She has a younger sister, Meghan, who is nearly four. Meghan was born a micropreemie. Both of my daughters have Alpha-1. I'm mom to the Alpha Girls. :)

Wednesday, April 23, 2008

March for Babies

Most of you are aware that both of our daughters, Grace and Meghan, were born prematurely. Gracie was our "biggest" baby born at 34 weeks weighing 3 pounds, 14.5 ounces. Meghan was our littlest peanut born at 27 weeks weighing in at 1 pound, 9.5 ounces. Severe preeclampsia caused their early births. Every day 1 in 8 babies born in the U.S. arrives too soon. Premature birth can happen to any pregnant woman. It is a serious, common, and costly problem. The March of Dimes is leading the campaign to reduce premature birth by supporting research and by educating the public and health care providers.

The effects of prematurity last longer than past hospital discharge, and both of my daughters experience the under recognized side effects of prematurity every day. This Saturday, April 26, 2008, my husband, Charlie, and I will be proudly walking with our miracles in the March of Dimes March of Babies walk. I would be honored if you would consider a donation to our fundraising efforts. Thanks for your consideration. We appreciate it more than you could ever know.

Please help by donating today!

Friday, April 18, 2008


When I look at this child, I can say without a doubt that I'm filled with emotion. I guess I'm most overwhelmed by the delicate beauty I see. Her skin has a soft, peachy, glowing color, and her light-red hair hugs the contours of her faces and falls gently to her shoulders.

Upon closer look, I see large violet-colored eyes with black eyelashes, which seem almost artificial. Above her eyes are the most distinctly arched dark eyebrows I've seen on one so young. I think of all the time I spend trying to achieve what this child has naturally. Her nose is small on a thin little face. The mouth is small too, with thin pink lips that turn up quickly into a smile as I speak to her. As she lifts her head, I see a distinctly square chin, which seems to point outward as she gives me an impish grin. I look beyond her smile as she jumps and runs on thin long legs. She lifts her arms up and down as she runs and relishs the fact she can snap her long fingers.

As this child grows and develops, I see more than physical changes. A budding personality is emerging. She has qualities of both her parents. I'd like to say only their good qualities, but this would be deceitful. I can say she projects a truly genuine personality that's all her own. There is nothing tomboyish about this little girl. She loves adorning herself with jewlery, sweet smells, and frilly dresses. Of course, she will not accept just anything. Her dresses must be red, with ties in the back, and especially not itchy. The curt denial of anything but her desires might result in a freeze over Brazil. She can stand by the mirror for hours combing her hair and admiring pigtails one day and the next refuse a combing altogether.

She thinks ballet classes are just great, but loves rough-housing with her daddy (as long as it's not too rough). Her quick change from bubbling giggles to torrents of tears always signals the end to rough games for her. How she loves to play silly, but her intense pride in doing projects well can be almost overwhelming. The look on her face will tell if too casual a reply about them has been given.

Her sensitivity to others is so mature. A quick kiss to her sister's hurt knee or a gentle "It's all right." come so easily from her, but if called to her attention, she lowers her head in quick embarassment. A moment later, though, she lifts her head and shows a wide grin, and I know everything's all right. She has appreciated my noticing.

I could go on and on about this little beauty, but that might be bragging. For you see, my mother love is showing through because this little girl is my firstborn, Jen.

Guest Writer: Sherry, dated 11/23/1977


I guess my writing abilities came from my mother's side. :) I found this description inside my baby book today. I was 5 when she wrote it. I hope my writings inspire my girls when they are old enough to appreciate them.

Tuesday, April 15, 2008


Short of breath, I huffed my way down the carpeted, hospital hallway. My toes and ankles ached. My husband's flip flops adorned my feet, and the swollen skin on the top of my feet painfully stretched with each step. I felt quite awkward, but the stoic side of me forced a smile to mask my terror.

Charlie snapped my picture. I cringed on the inside. Why in the world of all that is good would I want to remember this day? My body was slowly failing me and my baby. I didn't want to capture the moments of my body's failure. Charlie made small talk with the nurse who was guiding me to my labor and delivery room. He seemed a bit nervous too.

Upon entering the room, the baby made a lumbering slow roll under my rib cage. I thought, "Aha, there you are. I've been waiting for you to move. You had me worried." It had been seven days of kick counts, and time spent on my left side. I was obsessed with the kick counting, and this was the most I had been upright in over a week. Wooziness was washing over me. My blood pressure was 160/110, and I no longer felt the urge to use the bathroom. All of the fluid in my body was slowly leaching out of my blood vessels and into me.

The swelling had reached my brain and was now affecting my vision. Straight lines now appeared wavy, and the light of day was blisteringly painful to my eyes.

Today was the day to be induced. The baby had stopped growing, my blood pressure was rising, and my kidneys were shutting down. The process of bringing my precious cargo into the world was about to commence. Today was the day that I would begin the process of delivering my baby too early. IV lines were placed. Bags of pitocin and magnesium sulfate were hung. I crawled into bed again, and found my left side. A long sigh emerged from within me.

When the mag hit my inside, I immediately felt hot. It was as if someone turned on a blast furnace from the inside. From there, the details all glide together into a commingled yet disjointed experience. The sequence of events eludes me anymore. That, in and of itself, brings immense disappointment within me. This was my first pregnancy. I want to remember what happened, but the disease of severe preeclampsia stole it from me.

The fuzzy memories I have usually center around the pain I was feeling with each pitocin induced contraction or how the wrinkled sheets underneath my body felt as if I was laying on match sticks.

Each year on April 15th, those fuzzy memories contract and contract and contract within me again. I clamor for the relaxing break between the emotional pain, but the contractions keep coming and coming and coming. I take cleansing, slow breaths in hope they will help. The routine of my day and the preparation for my first baby's birth date don't suppress the contracting. Nothing helps except for the end of the day.

Sleep lulls me now. Hopefully, it will be a sleep so deep and sound that I don't dream of those contractions again at least until next year.

Tuesday, April 08, 2008

Boston Marathon Update

In January, Grace and Meghan were matched with Jen Davis, a runner in the Boston Marathon, through a patient match program in use at the American Liver Foundation. Jen is participating in the Run for Research, and we are incredibly honored that she runs in honor of Grace & Meghan, who live with Alpha-1 Antitrypsin Deficiency every day.

Please consider making a donation to Jen! She is doing such a great job running for anyone affecting by liver issues/diseases. Thank you Jen!

Here is her latest update:

The marathon is 2 weeks from today and the the hard training is now over. We had our 21 mile run last Saturday and I am thrilled to say that I got through it. I have been nursing a quad injury and had not run for 2 weeks prior. I ran a nice steady pace and was able to complete the whole run. Although I had trouble walking for the next 2 days. From now until the marathon we are in taper mode. Giving our muscles time to heal. My fundraising is going great. I am at $6,100 and plan on hitting my goal of $7,500. I am attaching a picture form our run last weekend. This was taken before we set off on the 21 miles. Of course that is why I have the smile on my face. The picture at the end isn't so pretty.

A big hello to Grace and Meghan and please let them know that their names will be written on my marathon shirt in huge letters! ~ Jen

Friday, April 04, 2008


Nearing dawn, I awoke with the sensation that my chest felt heavy. The weight of my upper half felt as if it was pressing down from the inside onto the muscles of my upper back. It was odd, but strangely relaxing. The usually knotted muscles within me relaxed in response.

Was this sensation a remnant of that space between awake and asleep?

A virus had wrapped itself inside the cells of my being. The words "sick and tired" paled in comparison to how I felt. Dark circles grew larger under my eyes. My chest inhaled and exhaled rapidly over and over. My heaving breaths seemed to further extinguish my energy.

I shifted in the space of my bed, and pain rushed through the nerves of my lower neck, reached an intersection, and flowed up both sides of my face to the pinnacles of my temples. The ibuprofen had worn off over night, and I needed another dose. I didn't like relying on the pain reliever, but the alternative reminded me to ginger myself.

A tickling sensation grew near my vocal cords. I swallowed to tame the tickle. It didn't work. Coughing, that seemed to originate deep inside my lungs, sputtered from my lips. Over and over, I coughed. My oxygen supply was diminished, which encouraged my lungs to inhale deeply. I choked on the air, and sputtered some more.

The pounding of my heart startled me, and I sat up in response. I gasped for air again, and reminded myself to try a shallow breath. That helped, but it was followed by a fast 1-2-3 sequence of breaths. Suddenly a scratchy sensation welled up within my throat.

Choking coughs emerged, and my vocal cords throbbed in pain. My heart raced in response, and the din of my sputtering faded away. I sighed and grabbed my forehead. A chill cascaded within me, and I wondered about my temperature.

Was it 102.5 again?

My chest rose and fell over and over again in rapid fire sequence. My friends and family with Alpha-1 Antitrypsin Deficiency ran through my thoughts.

Is this how they feel?

Is this how their breaths feel?

Is this how Grace and Meghan will feel in the future?

Choking coughs thrust forth again, and throbbing within my throat induced a swallow. Tears pooled within my eye lids, and my thoughts failed to calm my fever induced anxiety.

A virus was ravaging my insides, and I reminded myself to rest again. I gulped two more pills, and poured the water into the desert of my mouth and throat. I no longer had the energy to sit up. The mattress enveloped me with warmth, and my eyes closed under their own weight. Charlie rolled over and slid his sleep heavy hand onto my hip. Unfortunately, the muscles surrounding my hip knotted in response. More pain flowed.

A tear slid down my cheek toward my ear, self pity tried to emerge, but was quieted by the coughing within me.

A new sensation quelled. Itchiness inside the lower portions of my lungs insulted my sanity. I rubbed the middle of my back near the itching but found it futile. The itch was inside me, nowhere near anything I could scratch.

Fortunately, sleep found me again. Rest was what I needed. Rest would help with the battle against this virus.