DeAnna Got the Transplant Call

In March, I was contacted by a man on my caringbridge website for my daughters. He was a grandpa to a little girl named DeAnna who had Alpha-1 liver disease. Well, eventually, DeAnna's mom contacted me, and we were able to meet at our local Alpha-1 support group meeting.

DeAnna was so tiny and so very jaundiced. It made my heart feel heavy when I'd look at her since her color reminded me of the gravity of the situation. She was still a baby though...happy, fussy, giggling, and alert...very cute. Overall, she was a doll!

Anyway, today, DeAnna's mom, Sarah, called to tell us that DeAnna has been called for her liver transplant. They are at the hospital doing presurgical tests as I write this. I called Sarah and heard DeAnna making baby noises in the background.

I hope and pray that I get to hear those baby noises again. I'm sad that another family's devastating loss is possibly creating immense joy for DeAnna's family.

Be an organ donor! It saves lives.

I'll be praying that DeAnna's post transplant journey goes smoothly.

Jen

Meghan Home 2 Years

On Sunday, we will have had Meghan at home with us for 2 full years. Wow, the time has flown by, but we are still dealing with former micropreemie issues such as PT, weight gain, and sensory issues. Anyway, I'm so proud of my peanut girl and how far she really has come. Here is my journal entry from 2 years ago. Just thought I'd share... JEN

On Friday July 23rd, Meghan was down 10 grams to reach 2090, which is 4 pounds, 9.75 ounces. They also measured her height, which was 17 3/4 inches long. Those were her official discharge statistics. Yay! Meghan is home with us, but before I cover that subject, I'll cover a little of the discharge process...

Charlie and I raced over to the hospital after lunch to meet with the monitor company. It was pretty much just a review for us since it was the same monitor that Grace used just 2 short years ago. After that, Charlie and I hung out with Meg's daytime primary nurse, Debbie Cieslak. She filled us in on specific recommendations that Doctor Ragatz had made. After that, we attended infant CPR class. It was just Charlie and me in the class so that was nice. Finally, after CPR, we met with the dietician who had been monitoring Meg's food intake since birth. She sent Meghan home on breast milk fortified with 22-cal Neosure formula. We learned how to mix the milk and powdered formula.

After that, it was past 3:30pm so Meg's other primary nurse, Kate Kirchner, joined us to do the rest of the discharge. Both Charlie and I hugged nurse Debbie goodbye when her shift ended. Doctor Ragatz came by shortly after that, and hugged me goodbye, too. That meant a lot. Nurse Kate looked Meghan over one more time, before handing her to me. We put her in the car seat and bundled rolled up blankets all around her. It was a proud moment for all of us. I can't tell you how long we've waited for this...but really I can, it was 79 days! Anyway, we quietly left the NICU with nurse Kate escorting us to the parking lot. She wished us well, and we took our peanut girl home. Grandma Kathy and Grandpa John watched Gracie while we were at the hospital. Gracie met Meghan on the sidewalk and promptly asked to hold her. It was so cute!

We all settled in at home, and prepared for a restless night. Meghan was a bit disoriented by her new non-hospital surroundings, but did well overall. She woke us 2 times that night. Boy! I forgot what it feels like to be "that" tired. She is up every 3-4 hours to eat, and she lets you know when she is hungry.

To wrap this all up...

Meghan came a long way from 715 grams at her lowest point, shortly after birth, to reach 2090 grams. She fought a long, hard, uphill battle, and we are so thankful to have her in our lives. Not all babies make it out of NICU, and I thank God every time I look at her. She truly is a living, breathing miracle, and I will never forget the staff at St. J*****'s for helping our family through the process. We are blessed to have such a well-reknowned and honored NICU just 5 minutes from our home.

Finally, I must thank each and every one of you who prayed for us, helped us, or just plain cared about what was happening to our family. Words cannot express our gratitude and forever loyalty to you all. We only hope that we can someday, somehow repay you all. It meant the world to us. When tragedy strikes, you really find out how many people care for and love you. Your collective voices and prayers worked to help Meghan fight her battle to live a long and healthy life.

So with all of that said, I want you to know that I will periodically update this web site to keep you all informed of her continued progress. Eventually, I'll be printing this journal out and commemorating it for Meghan to read when she is older.

Thanks again for all of your caring and support.

Proud Mom Jen, Dad Charlie, Big Sis-Sis Kesa, Little Miss Gracie, and the Peanut Girl Meghan Rose!

The Kissing Disease

Ok, my dear husband, has mono. It was diagnosed shortly after we came home from San Diego for the national Alpha-1 conference. He and I had a get away without the kids and needless to say we "got to know each other" again. So, I've been exposed to the Epstein Barr Virus (EBV) or otherwise known as Mono.

Charlie has a pretty bad case of it with an enlarged spleen and hepatitis of the liver. Today, I'm running a fever and have aches and pains everywhere. Advil takes care of it for 6 hours, but then it all returns. I'm hoping beyong hope (denial?) that this does not turn out to be mono. A couple of days ago, I had a nasty GI bug. Maybe that illness lowered my immune system's ability to fend off mono? In any case, it doesn't matter. What will be...will be, but can I just say this sucks? I've never done being sick well.

In My Daughter's Eyes

Artist: Martina McBride
Album: Martina (2003)
Song: In My Daughter's Eyes

Lyrics:
In my daughter's eyes I am a hero
I am strong and wise and I know no fear
But the truth is plain to see
She was sent to rescue me
I see who I wanna be
In my daughter's eyes

In my daughter's eyes everyone is equal
Darkness turns to light and the
world is at peace
This miracle God gave to me gives me
strength when I am weak
I find reason to believe
In my daughter's eyes

And when she wraps her hand
around my finger
Oh it puts a smile in my heart
Everything becomes a little clearer
I realize what life is all about

It's hangin' on when your heart has had enough
It's giving more when you feel like giving up
I've seen the light
It's in my daugter's eyes

In my daughter's eyes I can see the future
A reflection of who I am and what will be
Though she'll grow and someday leave
Maybe raise a family
When I'm gone I hope you see how happy she made me
For I'll be there
In my daughter's eyes

In Memory of Pat

We lost a precious member of our Alpha Pack support group yesterday, July 9th. When Meghan was born (on Pat's birthday), Pat began sending us cards in the mail, and leaving notes on Meghan's caringbridge web page: http://www.caringbridge.org/wi/meghanrose. Pat shared that she had lost a daughter at 20 weeks. She could describe her daughter perfectly to me, and now, I'm glad that they've been reunited, but I'm also sad that another Alpha had to go to heaven. God speed Pat!

San Diego Pictures

Liver Walk Photos

Tribute to Dr. Giles

When I was pregnant with my oldest daughter, Grace, I developed severe preeclampsia. A c-section later and a few days post partum, I was still being treated with a life saving drug called Magnesium Sulfate and a narcotic for pain relief.

I'm not certain which medication gave me halucinations, but I had them. Visions of baby faces, foot prints, and bugs...the creepy, crawling version. Needless to say, I became quite distraught at what was appearing before my eyes. It was 2:00 AM, and I was not sleeping. My husband, Charlie, was stretched out on the equilavent of bamboo mat passed out. I started freaking out, and he didn't wake up. I called the nurse and explained the creepy, crawlies and baby faces/foot prints. All the while, I'm thinking: "Am I insane?"

Soon after, Dr. Giles, a second year resident, walked into my room. I asked him if I was going insane. He said, "I don't know you very well so I can't answer that question." Dr. Giles then turned to the sleeping hump also known as my husband and said, "Hey, is your wife insane?" In his sleepy stupor, Charlie grumbled, "Yes, very." To which, I became a crying ball of post partum emotions, high blood pressure, and tears. The doctor didn't seem too impressed by my description. Dr. Giles discontinued the magnesium sulfate and my PCA for pain relief. By morning, I became a normal emotional post partum mommy, but I didn't see any more visions. Hooray!

The next morning, I remember thinking that doctor was a jerk. He seemed annoyed by being awaken at 2:00 AM and dealing with me, an "emotional" mommy. )Looking back on it, I can see how he was tired, and had probably been on rotation for more than 24 hours.) For quite some time after, I replayed the scene in my head. It was a low point for me in my preeclampsia and NICU journey.

A little more than two years later, I was inpatient in the hospital again pregnant with my second daughter, Meghan. I was almost 27 weeks along with soaring blood pressure, a baby that was too small (IUGR), about 40 pounds of swelling, and the worst headache of my life. Preeclampsia was back with a vengence.

It was day 8 of bedrest, and I noticed that my baby had not been moving around as much. It was a Sunday, and there were several mommies on my antepartum floor whose pregnancies were giving the nurses and doctors much to do. Well, it took what seemed like forever for my nurse to come. She finally came, and hooked me up to a fetal heart monitor. Within two minutes, nurse Yulia was watching and listening to the monitor with a concerned look on her face. She quickly left the room, which gave me some anxiety. When she returned, she walked into the room with Dr. Giles, who was now the chief OB resident.

Needless to say, I was none too happy to see Dr. Giles. I'm not sure what experiences Dr. Giles had been through in the prior two years, but he was a completely different man. His dedication to his chosen profession, desire to answer my questions, and general bed side manner were exceptional. He explained that my baby was experiencing heart decelerations, which meant fetal distress. I would need to be sent to Labor and Delivery to start the dreaded Mag. This also meant that my baby would be coming 13 weeks too soon. 13 weeks! Crap!

I had been trying to prepare myself for this reality all the while on bedrest, but it hadn't quite sunken in yet. I had been a NICU mom with Gracie, but she was only 6 weeks early...small, but mostly healthy. This baby would be around 1 1/2 pounds and need immediate ventilation support. Her chances of survival within the first 4 days would only be 75%. There were so many risks to my dear sweet baby still growing (albeit quite slowly) inside of me...too many to comprehend completely.

For twenty minutes, Dr. Giles sat down in a chair while carefully, quietly, calmly, and lovingly walking me and my husband through what was about to unfold. He also explained that I'd probably have preeclampsia with any future pregnancies. Before he left the room, he walked over to my bed. While touching my hand, he said, "I hope this turns out okay for you Jennifer. Good luck."

How Dr. Giles morphed from "that jerk doctor" into a genuine caring human being I'll never know. But I do know that I'll always remember his kindness and concern. So, Dr. Giles, I pay tribute to your growth and how in the end, all became right in my world. I delivered Meghan Rose the next day weighing 1 pound, 9.5 ounces. She was cared for in the NICU for 79 days, and then came home to our loving arms. Meghan was our living, breathing miracle.

Gracie's Original Diagnosis was SZ

Ann Hum Genet. 1994 Jan;58 ( Pt 1):11-7.

'SZ like' alpha 1-antitrypsin phenotypes in PI ZZ children with liver
disease.

MRC Human Biochemical Genetics Unit, Galton Laboratory, London.

Using high resolution isoelectric focusing, alpha 1-antitrypsin phenotypes were studied in 106 individuals of the PI ZZ genotype including 71 with liver disease, 22 with chest disease and 13 healthy subjects. The resulting Z patterns were found to be highly variable. In the majority of cases (89/106) the maximum staining intensity was either in the most basic isoform or shared equally between two basic isoforms of the Z phenotype. However, in 17 cases there was a marked intensification of the more acidic isoforms resulting in a pattern which closely resembled the SZ phenotype. This 'SZ like' pattern occurred more frequently in the liver group (16/71) than the
chest group (0/22) or healthy (1/13) controls. One possible consequence of the 'SZ like' pattern is confusion with the genuine SZ phenotype leading to misclassification. If this were so, there could be an erroneous exaggeration of the actual incidence of childhood liver disease associated with PI SZ.

Source -Pubmed

Alpha-1 Carrier State a Genetic Modifier?

Presentation Title: ALPHA-1-ANTITRYPSIN - A MODIFIER GENE IN PEDIATRIC LIVER DISEASE?
Presentation Time: 10/31/2004 12:30:00 PM
Author Block: Kathleen M. Campbell, Gajra Arya, Frederick C. Ryckman, Maria Alonso, Gregory Tiao, William F. Balistreri, Jorge A. Bezerra, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Purpose: Homozygous alpha-1-antitrypsin (A1AT) deficiency is the most common genetic cause of liver disease in children; however, the role of polymorphic heterogeneity in A1AT as a modifier of other forms of pediatric liver disease has not been explored. Therefore, we designed a study to determine A1AT allele frequencies in a population of pediatric patients with chronic liver disease, and compare these findings with published population-based data. We hypothesized that non-M alleles are more common in patients with chronic liver disease than in the general population.Methods: In this retrospective, single-center study, A1AT phenotypes were obtained by chart review of patients with chronic liver disease followed at the Cincinnati Children’s Hospital Pediatric Liver Care Center. Chi square analysis was used to compare allele frequencies in the liver disease population to published epidemiologic survey data including more than 27,000 individuals in the United States, and to compare allele frequencies among disease subgroups.Results: A1AT phenotypes were available on 264 children with chronic liver disease. Of these, 23 patients with A1AT deficiency (ZZ phenotype) were excluded from analysis. The distribution of A1AT alleles in the remaining 241 patients was significantly different than published population-based data (p<0.001). The differences in distribution were due to an increased frequency of “Z” and “other” alleles in the chronic liver disease population. When this population was divided into subsets, “biliary atresia” (N=67) and “other liver disease” (N=174), the distribution of A1AT alleles remained significantly different than published data for each subset (p<0.001). Among children with “other liver disease”, allele frequencies did not vary between those with long-term survival with native liver and those requiring liver transplantation. In contrast, among biliary atresia patients referred for liver transplant evaluation, the presence of a non-M allele was associated with a lower mean age at transplant listing than the MM phenotype (235 vs. 779 days, p=0.036), and more frequent loss of native liver by 24 months of age (90% vs. 65%, p=0.04).Conclusion: A1AT non-M alleles are more frequent in children with chronic liver disease than in the general population. Among those with biliary atresia, the presence of non-M alleles is highly prevalent in the subgroup with more rapidly progressive disease. We speculate that these non-M alleles may act as genetic modifiers in pediatric liver disease in general, and modulate disease progression in children with biliary atresia in particular.

A Diagnosis

In April 2002, our Gracie entered the world screaming as loud as she possibly could. She’d just been “extracted” from her warm, soothing water world by the unexpected hands of a surgeon. It was as if she was saying, “Put me back in there.” But, I remember feeling so relieved when she cried and wailed loudly.

In the previous two weeks, I had been on the severe preeclampsia roller coaster ride with sudden onset swelling/edema (40+ pounds), dangerous high blood pressure, vision disturbances, and kidney failure issues, the worst headache of my life, and lots and lots of bed rest on my left side. I was only 34 weeks pregnant. It didn’t seem like life could be any scarier.

Well, the moment I saw my baby Gracie, I forgot about what I was experiencing. All that I could see, hear, or think about was Gracie, our gift from God. My husband, Charlie, was all grins, too.

Grace was born small for gestation because of my preeclampsia, weighing in at 3 pounds, 14.5 ounces. She had some difficulty breathing because she was a bit premature so she went straight to NICU.

About two weeks into Grace’s stay in the NICU, her neonatologist mentioned that something might be wrong with her gallbladder, and he wanted an ultrasound with some blood work. He was so casual about it that we didn’t think much of it since Gracie was being put through the gamut of NICU experiences anyway.

In NICU with Gracie, we passed some of the time by reading her chart from top to bottom. Most of the time, we didn’t know what we were looking at but did see abbreviations in the chart that had abnormal values. I can still picture that piece of paper in my mind. The letters AST, ALT, GGT, and Alk Phos had abnormal results. We both wondered what that meant.

We asked the doctor about the ultrasound results. He said they were normal. I also asked about her blood work. He said that premature babies often have abnormal blood work, but that he was calling in a specialist from our local Children’s Hospital to check her out just in case since her direct bilirubin was still elevated.

I can’t remember the exact day that the gastroenterologist found us in the NICU, but I do remember Charlie and I were caught off guard and quite confused. The doctor kept asking us if any members of our families had ever had emphysema or liver issues. I didn’t know of any and neither did Charlie. I finally asked her, “Why?” Then came the words that changed our lives forever…Alpha-1 Antitrypsin Deficiency. I thought, “What did she just say? Did she just say genetic disorder? Alpha what? Possible liver transplant? Huh? How do you spell that? We carry what gene?”
Well, Grace went home with us 23 days after she was born. She struggled to gain weight, took a battery of fat soluble vitamins, threw up quite a bit, and was generally a fussy baby. She eventually started to gain weight when she was about 6 months old. Her liver labs started to go in the right direction, and life just kept going on and on.

Now, Grace is a healthy girl. Looking at her, you would never know that her liver doesn’t work properly and that her lungs need vigilant protection from cigarette smoke, pollution, and other irritants. Gracie doesn’t understand that she has a genetic disorder. All that she knows is that playing with toys, reading books, spending time with Mommy and Daddy and chasing our cat and her sisters is what life is all about. Only time will tell if Alpha-1 will ravage Grace’s liver or lungs. Meanwhile, Charlie and I treat her like the precious gift that she is, remembering that Grace’s liver allows her to LIVE.

Pictures

Dear Meghan

Dear Meghan,

When your sister was about 15 months old I was having so much fun being a mommy, I began to have what we, mommies, call baby lust. Your big sister, Gracie, was at a very fun age filled with exploration and inquisitiveness, but she had Alpha-1.

Your daddy and I eventually decided to add to our family, but that was not without reservations. We discussed having another baby from a risk benefit perspective. After all, I had a high risk pregnancy and birth experience with Gracie because preeclampsia reared its ugly head. My life and Gracie’s life had been threatened by my high blood pressure, seizure risk, and kidney dysfunction. In addition to preeclampsia, we also carried the Alpha-1 genes. It was a confusing and stressful time in our lives. We weren’t sure we wanted to inflict that possibility on another child by choice.

In looking at it in terms of benefits, we were normal adults who wanted to grow our family and cultivate the love we had for one another in our children. It wasn’t fair that preeclampsia happened to me. It wasn’t fair that we both carried the Alpha-1 Z gene. It wasn’t fair that we had no control over preeclampsia or our genes. I knew in my head that I didn’t ask for preeclampsia or Alpha-1, but somewhere deep down inside, I felt like I failed as a parent. I wallowed in the guilt, but somehow, somewhere I eventually found the strength to pull myself out of the darkness and be there for your daddy and Gracie. I’m so happy that God helped me because that led me to you, my baby girl, Meggie.

Unfortunately, I developed preeclampsia with you too, and this time at 25 weeks gestation. You were born a peanut weighing an unbelievable 1 pound, 9.5 ounces, and stretching out to be 13 inches long at 27 weeks. You were in the fight for your life. We weren’t certain that you’d be okay. Your lungs were quite immature, and your liver was not working as it should. I kept wondering what that meant if you were an Alpha like Gracie. What would it mean if you had Alpha-1 and you were born too early? What would that mean for your future lung and liver health?

After about 2 ½ months in NICU, you had finally stabilized enough to have your Alpha-1 tests. I remember getting a call from your daddy, who was visiting you in the NICU. He was there when they delivered the test results. You were an Alpha, too. My heart sank. I could hear the sadness in his voice. Tears streamed down my cheeks. It was a hard day, but I soon remembered how much of a miracle you truly were. You were not a guaranteed child. You were a gift from God.

So Meghan, I write this letter so you understand that your mommy and daddy didn’t want to take a chance with your life. We just knew deep down inside that we needed to be parents again. You were meant to be. We’re sorry that Alpha-1 is a part of your life, but we want you to know that it should not define you. You are our sweet, inquisitive, joyful daughter who also happens to have Alpha-1. Your mom and dad love you, and, yes, we will probably always struggle with guilt, but we get to experience the miracle of you. That overrides the guilt.

Love,
Mom

My Introspection

Reading a post by Neonatal Doc made me think about how I can help improve the health care system as a consumer. I've certainly not paid enough into my insurance for what I've gotten out of it. I've been severely preeclamptic twice, and have two beautiful former preemie daughters. It feels like day in and day out I review insurance paper work to identify errors...some to my advantage and some not. As a consumer of health care, I need to do a better job of understanding the costs of what my family consumes. I think we Americans have become lazy. We rely on somebody else (aka insurance cos.) to do our jobs as consumers. I know that I'll be doing my small part to find the best quality health care while paying reasonable prices for it. I will not go blindly into the night anymore.