Wednesday, December 24, 2008

He's Always Been Faithful

Yesterday we had another amazing sonogram! Boston had a growth spurt in the last month that exceeded both mine and the doctor's expectations. He is now an estimated 6 pounds 5 ounces. He is measuring like a baby who is full term -- 37 weeks! That is almost a full month ahead of my due date. The doctor commented on his super-long limbs (just like his daddy), his gigantic melon (the biggest measurement was his head -- means he must be smart) and my favorite comment from her was -- "Oh my goodness, look at all that hair!" I am picturing lots of dark hair like his daddy (even though I know Brian was blond when he was born). It was a great time to spend with my baby boy and to see how he has grown. The fluid level is still good and his kidneys did not look enlarged or bright.

What this ultrasound means for his diagnosis: nothing. Unfortunately, regardless of how magical and special each positive sonogram is and how much we treasure getting to see our sweet little boy, nothing done prior to his birth can erase the doctor's early findings of a high AFP and the genetic testing. A baby can look perfectly fine on the sonogram (like Boston) and still be born with Pierson Syndrome, so we will still have to wait for him to be born to know for sure.

I also had my first non-stress test (NST) yesterday. It is a very simple procedure where they hook up monitors to my belly and listen to Boston's heart. They are watching for movement and heart rate accelerations that accompany the movement. Each NST is 20 minutes long and they are looking for at least 2 accelerations in the 20 minutes. Boston had his first two within the first minute or so, but we still had to wait the full 20. I will be getting NSTs every 3-4 days until he is born. Luckily, I snapped up all of the 7:30 am appointments so I won't have to miss any work.

Yesterday I also met with Elaine Swinehart, the Maternity Care Coordinator, who helped me fill out all of my admission paperwork and consent forms. She read through a copy of our birth plan and said it was very well done. She took me on a quick tour; I will have a more extensive one when I go back to meet with the neonatologist. I was not expecting how the visit to the NICU would affect me.

I walked into the NICU and all of a sudden it struck me that this was not a place I wanted to be. Although they try to make it as friendly as possible, you don't have to be there for more than a few seconds to know that the babies here are sick. On the ceiling, part of which you can see in the picture, is the phrase "Wish I May, Wish I Might, Grant the Wish I Wish Tonight." It hit me that the wish these parents wanted granted was for their babies not to die, and that was overwhelming -- a parent's plaintive plea for their child to survive. All of the doors are glass for security reasons and so you are surrounded by room after room, bassinet after bassinet, of babies who are gravely ill. I teared up as I realized that Boston could be coming here and I had such a surge of protective mother instinct -- thinking "I don't want my baby to be here -- I don't want him to be sick. I don't want to have to wish that he would live." I am pretty sure that this aversion to the NICU will pass; after all, I want Boston to be where he needs to be in order to get better. But I was surprised how much it affected me.

The title of this blog is from a Sara Groves song. As we celebrate our positive sonogram and wait for Boston to be born, I recognize God's faithfulness. We will not be tempted to fall into sorrow or despair, or to let our hope wane. As Paul says in 1 Corinthians 10:13 No temptation has seized you except what is common to man. And God is faithful; he will not let you be tempted beyond what you can bear. But when you are tempted, he will also provide a way out so that you can stand up under it.

Here are the lyrics to Sara Groves' song "He's Always Been Faithful"

Morning by morning I wake up to find
the power and comfort of God's hand in mine.
Season by season I watch him amazed,
in awe of the mystery of his perfect ways

CHORUS: All I have need of his hand will provide.
He's always been faithful to me

I can't remember a trial or a pain
he did not recycle to bring me gain.
I can't remember one single regret
in serving God only and trusting his hand.


This is my anthem, this is my song,
the theme of the stories I've heard for so long.
God has been faithful, he will be again.
His loving compassion, it knows no end.


Monday, December 22, 2008

Getting ready...

This weekend we made some exciting progress towards Boston's birth.

On Saturday, Brian washed Boston's clothes while I set up the nursery. For right now, we have put all of Boston's stuff in the guest room because we don't know when (or if) we will come home from the hospital or what kind of set-up we will need when we get there. There may be some major furniture rearranging depending on what we need, for a dialysis machine, feeding apparatus, etc. But for now, I blissfully arranged his Winnie-the-Pooh baskets on his shelves, filling them with onesies and sleep and plays and baby washcloths and booties and other assorted baby-morabilia. I separated out the smallest items in case he is less than 8 pounds and we need some preemie or newborn clothes. They are the tiniest of outfits and could fit on his teddy bear! Clark helped arrange things. He was highly disappointed that he could no longer fit into his swing. He looked adorable as he peeked over the bassinet to see what was inside. For now, it only holds a green teddy bear and a blanket, but hopefully he will soon get to peer at his baby brother! The new paint in the guest room looks great with all of Winnie-the-Pooh decor.

Our second baby-related event happened overnight on Saturday. I tossed and turned all night and had major lower back pain. I couldn't figure out what was going on until Sunday morning when I got out of my bed and realized that Boston had majorly changed positions. I will find out at the sonogram tomorrow whether or not Boston has officially "dropped" but I can tell you that it sure feels like it. I used to have a shelf that I could rest a drink on, but now he has moved down much lower. Although I can breathe easier, it has made walking much more difficult. For first time moms, the baby can drop weeks ahead of time. Since this is my second pregnancy, I was not expecting Boston to move down quite so early, but hopefully I still have a few weeks left before I deliver. The doctors have agreed that it is medically impossible for my due date to be Feb. 12, so I have a due date "range" of Feb. 1 to the 12, making my due date 6 to 7 1/2 weeks away. I want to get everything done at home and at work so I don't have procrastination stress.

My sonogram is tomorrow at 4 and I have my pre-admission appointment at the hospital at 6. I am excited to see how Boston is growing and to get a tour of the maternity ward at St. Luke's.

Wednesday, December 10, 2008

My two boys

We had 3d pics taken of Clark as well, and here are a couple of side by side comparisons. We will see how they play out when Boston is born.

More than halfway there!

We found out about Boston's likely diagnosis 10 weeks ago today. His due date is 9 weeks from tomorrow. It is hard to believe, but we are more than halfway through this first period of prayer, the waiting for his due date. The hardest thing about the four month period between the time we found out about his possible diagnosis and our due date is the uncertainty -- knowing that all we can do is wait and pray and trust in God. The most fun thing about this time is that right now Boston is doing great! He is living his little life to the fullest, kicking and growing and moving around. I can only wonder about what his little brain is thinking -- most likely something along the lines of "my Mom is awesome; she takes such good care of me...keeping me fed and warm and letting me listen to good music. My dad is awesome too...I like it when he talks to me and tells me how I am going to look just like him. I like Clark too, but I wish he wouldn't always sit on my head."

The comfort of knowing that he is okay right now is also part of the uncertainty -- not knowing if right now is the only time he will be "healthy" and okay. So while I am anxious to meet him, I also want him to stay right where he is for as long as possible, because I know he is safe and taken care of. This is the part where God comes in...where he tells me that "My grace is sufficient for you, for my power is made perfect in weakness." (2 Cor. 12:9). God will perfect his power not only in Boston's weaknesses, but in my own. And so I trust in that. And as Paul put it so perfectly: May the God of hope grant you all joy and peace as you trust in Him, so that you may overflow with hope by the power of the Holy Spirit. Romans 15:13 Can you picture that? Someone overflowing with hope? Gushing with hope? Spraying hope like a firehose? Sweating hope? Walking around with an aura of hope? Beams of hope shooting from their eyes? It's a visual picture. And not just hope, but ALL joy and peace as well. I can't imagine a more perfect place to be then filled with all joy and peace and overflowing with hope. Call it that "pregnancy glow."
A view of Boston's right side: his head, shoulder and right arm and a bit of his chest.

Boston's face and a bit of his foot.
A shot of his lower face and chest.

Boston's face.

Boston rubbing his left eye with his left hand; right hand tucked under chin.

Boston grabbing his foot with his hand.Rubbing his right wrist against his mouth -- all tucked up.
A shot of his five fingers :)

Curled up -- arms crisscrossed across his face, belly in the middle and crossed legs.

One beautiful foot

A shot from the back -- Boston's legs crossed at the ankles and the right side of his bottom.Boston's right leg.
Profile pic -- left arm by left eye

A closer view of Boston

We had our 3-D sonogram of Boston last Wednesday. My mom and dad came with Brian and Clark. We brought the portable DVD player so Clark spent more time watching "The Wiggles" then he did watching his baby brother. We were grateful that he was so entertained by the show that he didn't try to pull me off the sonogram table or turn off the big screen tvs. It was wonderful to see Boston close up. He looks so cute! The biggest difference that we saw between him and Clark were their feet. Boston only has five toes, as opposed to Clark's six, and his feet look so narrow compared to Clark's. Enjoy the pics!

Thursday, November 27, 2008

Happy Thanksgiving

The news yesterday was all GOOD! Our beautiful baby boy is now 4 pounds, 1 oz, has fat on his face and is growing hair. He looked great all over. He had normal amounts of fluid, normal looking kidneys, and FIVE fingers and toes on his hands and feet. He is still measuring big with an estimated due date of January 23. We took a good look at his heart and it is beautiful. Patti Lewis from Alexandra's House came with Brian and I while my mom stayed at home with Clark. We are so blessed.

Tuesday, November 25, 2008

Christmas is coming!

Sometimes I can't believe that I will still be pregnant at Christmas! Clark was born on December 12, and so we got to have him with us at Christmas. This year I will be about six weeks from delivery at Christmas, give or take. I could play Santa Claus with my belly full of jelly. Ho ho ho!

There is another effect of Christmas coming and not having Boston with us and that is the thought of the unknown. Thoughts like...what if Boston never gets to celebrate Christmas? It is not a new thought. I had the same thoughts on my birthday...that this could be the only time I get to celebrate with Boston. Because of that, we are trying to incorporate him as much as possible into the holidays.

The other effect of Christmas coming is the comparison of our baby to baby Jesus. There is a song on the album City on a Hill: It's Christmas Time and when I listened to it yesterday I broke down in tears. I was listening to the cd in the car and not paying much attention till this song came on. The song is "Child of Love" by Sara Groves. Here are the lyrics:

Child of wonder, close Your eyes
Rest here in my arms tonight
Someday You will save the world
But tonight I'll hold You, right here in my arms

Precious miracle of life, child of love
Gift of hope, the gift of light
From the Father above
And You were made for all mankind
But You will always be mine, child of love

Gabriel's promise has come true
God has blessed this world with You
And as I humbly hold You now
In my heart I know I'm holding heaven's child

You can listen to the song here:

It is such a powerful song of Mary's love for her baby Jesus and the bond she felt for him, the need to protect him and comfort him, even while knowing that he was destined for so many great and terrible things. It reminds me of the wonderful joy that is coming when I get to hold Boston in my arms and he is real, tangible, and mine. Knowing that heaven has destined for us to have some time together is such a blessing, whether it be weeks, months, years, or a lifetime.

Sonogram tomorrow!

We have so much to be thankful for this year: for the beautiful gift of Baby Boston, for family and friends lifting us up and surrounding us with prayer, for all of the ways God has come near to us, comforted us, and encouraged us, for a wonderful year spent growing closer to each other in our marriage and as a family, and for Clark, who gets more and more amazing every day.

Tomorrow we hope to have another blessing to be thankful for...we have another sonogram at St. Luke's. We are praying for Boston's growth, first and foremost. We are praying that his kidneys look good. We are praying for healthy fluid levels. While these things don't tell us whether or not he has Pierson Syndrome, they allow him to stay in utero longer and continue to grow, which will give him a better chance of survival once he is born. Normal fluid levels tell us that his kidneys are still functioning, meaning that he may not need to be put on dialysis right away after he is born. Normal looking kidneys mean there are no tumors or cysts. And growth means just that...he is growing. At our last visit the doctors told us that one of the primary things they look for when there is a high AFP is a baby who does not grow.

Another thing we are thankful for is that we are going to be able to receive a 3D/4D sonogram and see Baby Boston up close. A week from tomorrow, on December 3rd, we are going to be able to receive this wonderful gift from Jeanette Burlbaw at Prenatal Imaging. We were connected to Jeannette through Alexandra's House. Jeanette offers her services for free to families in situations such as ours. She has scheduled us at the end of the day so we can have plenty of time to see Boston. When I was talking with Jeanette, she was astounded to hear that Boston is sonographically normal. So many babies who face terminal diagnoses also have physical deformities that appear on the sonograms. While Boston's outward physical perfection is a gift from God, it is also something that I struggle with, knowing that my baby who appears perfect could have a life-threatening disease. I want to scream "look at him, there is nothing wrong with him, he is perfect!" But we are so blessed and excited to get to see his perfection up close. We are going to be looking for six fingers and six toes :) and hoping that he looks like Brian. I tell Brian all the time that Boston is going to be a mini-version of him...dark curly hair, lean features, and long legs and arms. I don't know if he believes me. As cute as a mini-Brian would be, who could not want the alternative? Another mini-version of me, who looks just like his big brother :) We will post pictures of Baby Boston next week after the 3D/4D sonogram. To see samples of Jeanette's work, visit her site at:

Alexandra's House

Last Thursday, November 20th, I met with Patti Lewis from Alexandra's House. Alexandra's House is a charitable perinatal-infant hospice house and refuge for abandoned or neglected babies. They provide spiritual, grief and practical support to families pregnant with babies who have a terminal diagnosis. They attend medical visits, develop compassionate and comprehensive birth plans, go to labor and delivery, maintain vigils through the babies' death, bathe and dress the babies, and participate in funerals and in long-term bereavement care, following up with families for three years after the babies' death. They are the "high touch" complement to "high tech" obstetrical care. Patti Lewis founded the house following her experience with her niece Alexandra's diagnosis of a fatal genetic disorder. She lives in an actual "house" near Westport, making it an ideal proximity to both Children's Mercy and KU Med.

I emailed Patti after we got Boston's diagnosis and explained our situation, outlining that Boston's diagnosis was not definitive and would not become any more definitive before he was born. I explained that because of this uncertainty, I wasn't sure how to prepare. I told her we still have hope that Boston could be born normal or with a mild form of Pierson Syndrome that may allow him to survive, which forces us to prepare both for his life and his death at the same time. She wrote me back and said she thought we would be a great match for our services. In situations like this, they help parents prepare a plan for the worst then put that on the shelf, so to speak, and enjoy the pregnancy.

So I met with Patti last week and she was wonderful! I was there for over two hours, but the time flew by. I took Brian and Clark back on Sunday for an open house and they got to meet Patti and look around the house. There are two apartments upstairs for people to stay in. If necessary, we would be able to come to the house for respite, naps, showers, etc., if Boston is in the hospital for an extended period of time. I am so grateful that such a giving place exists to meet our needs. The website for Alexandra's House is Please check out the site and pray for the volunteers. The personal stories from the parents about their children are powerful and moving; I haven't ever been able to read one without crying.

Thursday, November 13, 2008

Meeting with Children's Mercy Doctors

Last Friday, November 7th, I had the opportunity to meet with Dr. Blowey from Children's Mercy.

The link to his page at Children's Mercy is here:

From the moment I first sat down with him I knew that God had His hand on Boston and on the doctors that will be involved in Boston's care. The miracle of all miracles is that one of Dr. Blowey's colleagues in the Nephrology Department, Dr. René G. VanDeVoorde, has personally worked with a child with Pierson Syndrome!!!! Not only that, but he co-wrote one of the leading articles on Pierson Syndrome. This article was the first to examine a case of Pierson Syndrome in the United States. It was written in 2006 when Dr. VanDeVoorde was in Cincinnati. It is so awesome that one of the few people in the entire WORLD who has worked with Pierson Syndrome will be able to work with us. Pierson Syndrome is so rare; there are very few cases and even fewer doctors. We truly feel blessed and it is beyond mere coincidence that Dr. VanDeVoorde is available to work with us.

The link to Dr. VanDeVoorde's page at Children's Mercy is here:

The link to Dr. VanDeVoorde's article on Pierson Syndrome is here:

If you type "Pierson Syndrome" into Google, Dr. VanDeVoorde's article is the first entry.

From my meeting with Dr. Blowey, I got the following impressions:

1) They (the team at Children's Mercy) totally know what they are doing. They have more experience with congenital nephrosis than I expected and are on the cutting-edge of treatments and procedures. Dr. Blowey has personally seen about 5 patients with congenital nephrosis. Although it doesn't seem like a lot, given how rare the disease is, it was more than I was expecting.

2) They have a great respect for life and are very aggressive in their treatments and procedures. This is in contrast to other stories I have heard about mom's being told not to pursue treatment. It is also significant because the biggest factor in survival is the aggression and dedication of the parents and medical team, basically if they are "sold out" to the survival of the child.

3) They love what they do. Dr. Blowey referred to the patients as "kiddos," which I loved. It was such a personal reference and really brought home that he cared about the kiddos that he sees and works with.

4) They don't know what to expect. Dr. Blowey said that kids with the Finnish type of congenital nephrosis always look and act the same way so the doctors can tell you what is going to happen. Pierson Syndrome is different; there are mild forms, forms with kidney problems but not eye problems and some forms that don't present right away. His plan is to know all of the different possibilities and be prepared to act on what happens.

On the practical side, I got answers to all of my questions and have a good idea of the game plan once Boston is born. I also got a little bit of insight into how life workswith a baby who has congenital nephrosis.

Here's my best explanation of what I learned:

Although there are no more tests that can be run, Dr. Blowey wants the perinatal docs to look for a few things on the ultrasounds: bright kidneys, fluid level, and placenta size.

Dr. Blowey wants Boston to stay in utero as long as possible. If there is not a significant medical reason for him to come, then just wait on him. All this means is that I shouldn't have an elective induction or a planned C-Section -- if it is hard for me, too bad, 'cause as long as he's doing okay, he's staying in there. As a side note, Kansas just received a grade of "D" for pre-term labor. Apparently, 1 in 8 pregnant moms deliver early. This is due to an increase in elective inductions and scheduled C-sections that are done for the mom's convenience. In general, this practice is discouraged as it is not optimal for the baby.

Initial testing
Once Boston is born, we will likely do the following tests:
  • Physical exam (standard for all babies): we will be looking particularly at his eyes to see pinpoint pupils, as well as any other physical abnormalities that didn't show up on the ultrasounds. This will be done at birth.
  • Blood tests: checking the blood for creatinine, protein, and fat levels. This will be done daily. The levels at birth are not always accurate, so it could take up to a week of daily tests to make sure that what we are reading is accurate.
  • Urine output: is he peeing enough? The answer is probably yes. Most babies with CNS (congenital nephrosis) have functioning kidneys, meaning that the kidneys are filtering fluid; it is just that in the normal amount of urine they are dumping huge amounts of protein. Urine output can also take a couple of days; some babies don't pee on the first day.
  • Urine tests: check the urine for protein. This will be the most important. If he is dumping massive amounts of protein, then that would be what gets him bumped immediately from St. Luke's to Children's Mercy. The doctors will know that they can't mess around and have to start some aggressive interventions immediately. With all of the prenatal testing, we have a heads-up on what we are dealing with and don't have to mess around with a bunch of treatments that aren't going to work. That is what happened in Dr. VanDeVoorde's case in Cincinnati -- they didn't know what it was, so they spent a week or two trying things that didn't work.
  • Ultrasound: to get a better look at his kidneys up close.
  • Genetics: send his blood back to Athena and have them redo the genetic test.
  • Kidney biopsy: we aren't for sure on this test because it is painful and dangerous, so we are going to explore the benefits/risks before deciding to do it.

With all of these tests, we are planning on being in the hospital at least for the good part of a week, although Dr. Blowey advised that we could be there for months. I kind of skidded past the "months" issue, but I am sure we will discuss it more in the future. We have specified in our birth plan that we would like to have as much testing done at St. Luke's until I am released. Barring any complications with me, I don't expect to stay more than 48 hours before I am discharged. Once I am discharged, I don't have a preference where the tests are done. Dr. Blowey said that unless there are high levels of protein in his urine, we should be able to stay at St. Luke's for a couple of days. He said even if the team at St. Luke's gives Boston the all clear, he wants to take a look at him before we go home.

Even if things go great at birth, because CNS can be progressive our care will still be heightened for a while. We will have weekly visits for a month or two, then bi-weekly visits for a while, then monthly visits. That is if everything goes well. If not, we will be back to visiting the doc more often. Thank goodness the IRS counts mileage as a medical expense!

I was happy to hear that breastfeeding is preferred. Most of the time supplements will also be necessary. Dr. Blowey said that all the kiddos he has seen that have congenital nephrosis have also needed a feeding tube, either one through their nose or one that goes directly into their stomach. He said a lot of kiddos don't eat very well -- they can't/don't nurse. But he supports and encourages breastfeeding, and since I have "super milk," I was glad to hear it.

New information for me was that sometimes in treating kiddos with CNS, they preemptively remove both kidneys and start them on dialysis before the kidneys have actually failed. This stops the kidneys from dumping huge amounts of proteins and thus relieves the secondary conditions like swelling, high cholesterol, high blood pressure and risk of infection. Of course, the younger the kid is when you do this, the more risky it is. A baby on dialysis has increased risk of death, infection and is more likely to be restricted in its growth. This looks like a really tricky balancing act to decide when and if to preemptively remove the kidneys. Once the kidneys shut down, you don't need to remove them.

If necessary, we will do dialysis at home at night with support from a home health nurse. The type of dialysis that the use is through the tummy and it is automatic, which means I don't have to get up 3 or 4 times during the night to do the exchange. There is an alarm on the machine that will let me know if something is wrong.

Kidney Transplants
Most kidney transplants are done around 2 years of age. Dr. Blowey said it was not just the weight of the kiddo, but their general size. Their body cavity has to be large enough to fit the kidney.

The most important factor is blood type and then the general health of the donor. It is not whether or not the donated kidney will screw up the kid, but whether the donation of the kidney will leave the donor too bad off. He thought Brian might get knocked out because of his myotonia.

Although Dr. Blowey only meets with prenatal moms one day a month, he told me that he recognizes that this is a special case and is treating it as such. He told me he was going to talk to Dr. VanDeVoorde this week and that we would talk again this Friday, November 14.

If you read this and think of other questions, please email me or comment. I am sure there are other things I haven't thought of.

Monday, November 3, 2008

Boston's latest ultrasound looks good!

We had our ultrasound on Friday. I was tempted to paint a big orange pumpkin on my belly, but I thought it might get a little messy with the sonogram goo. My mom went with me to the appointment and we were delighted to see that Boston is GROWING!!! One of the risks with a high AFP is "growth restriction" where the baby isn't growing like he should be. Boston is a champ and is nearly hitting the 90th percentile for his gestational age. He is already 2 pounds 2 oz. We got a detailed look at all of the parts of his little body. Checking in from last month, the look of his kidneys continues to improve. This time, there was "no discernable brightness." Yippee! We prayed "that Boston’s kidneys will continue to improve and show no sign of “texture” or “brightness” on the ultrasound." That prayer has unequivocally been answered, at least for this month. The doctors do not know what this means overall for his health because Pierson Syndrome has not been studied in utero, so we don't know if Boston could have "normal" looking kidneys and then still have the disease. They also don't know the significance of the "bright" kidneys earlier in the pregnancy. My doctor reiterated the seriousness of my AFP levels and said that to call them "high" would be the understatement of the century. The doctors seem genuinely amazed that Boston is still alive. We are genuinely amazed at God's grace and power.

In other great news, Boston's lungs have developed to the point where the amniotic fluid level is no longer necessary for their development. We have prayed "that the level of his amniotic fluid will stay normal in order to allow his lungs to develop." That prayer has been answered.

We will meet with Dr. Blowey this Friday to talk about what to expect when Boston is born and what kind of testing will need to be done. That appointment will wrap up our "information-gathering phase" and allow us to prepare our expectations for the birth.

We won't go back to the hospital for another month -- our appointment is the day before Thanksgiving. We have so much to be thankful for already -- and God continues to abundantly provide.

Tuesday, October 28, 2008

Laminin and the Cross

Louis Giglio, while touring with Chris Tomlin on the “How Great Is Our God” tour, gave a speech about laminin. Laminin is the protein gene where doctors have found at least one of Boston’s mutations. We are waiting to find out how damaged Boston’s laminin gene is and the effect it will have on his functionality. Giglio’s goal on the tour was to give the hearers of his message “the confidence that [God] is able to hold onto us and hold us together no matter what circumstances come our way in this lifetime.” Giglio’s point about laminin was its shape – the cross. Giglio suggested that when we peek into the micro-biology and building blocks of life we find that we are held together by a cross shape glycoprotein matrix. The rebar of the human body is in the shape of a cross. He jumps to Colossians 1:15-20 where Paul in discussing the supremacy of Christ says, “He is before all things, and in him all things hold together… making peace through his blood, shed on the cross.”

How great is our God that in this time of waiting for Boston to be born He draws our attention to the laminin gene – a gene in the shape of a cross – to remind us that Jesus’ sacrificial love on the cross is what truly holds us together, even when the building blocks of life break down.

For a link to Louis Giglio's sermon on youtube, click here:

Friday, October 24, 2008

High-Risk Pregnancies

I wanted to clear up any confusion about Boston's diagnosis and what it means for me and the pregnancy. Physically, I am absolutely fine. Pregnancies can be classified as "high-risk" for two reasons: either (1) there are issues with the mother and/or (2) there are issues with the baby. We are at St. Luke's because of the second reason: there are anticipated issues with Boston. There are, however, no issues with me. My blood pressure is good; my kidneys work great; there are no problems with my blood or urine. I have even kept my weight gain down to only a few pounds (which for me is an accomplishment).

Additionally, there are not any anticipated problems with the progression of the pregnancy. There are no more tests that have to be done to put Boston at risk, no in utero kidney biopsies or surgeries would be helpful. I shouldn't have to be on bed-rest or anything like that, and as of right now, we are not anticipating that Boston will need to be born early. Personally, I don't think there is any way that he will make it to his actual due date of February 12, because every sonogram that we have had shows him about 2 weeks ahead on his growth. So I think he will be born closer to Feb. 1, which is what I thought my due date was to begin with.

Also, Boston's kidneys shouldn't cause him any problems in utero. Right now, my kidneys do all of the heavy lifting for him, filtering all of the blood and fluid that goes to him. And my kidneys work great, so that means his kidneys get to take a break. It is like being on free mommy-provided dialysis.

The only thing that we are watching for that could cause Boston to come early is low levels of fluid around him. A lack of fluid means his kidneys have shut down completely. The fluid is necessary for his lung development. So far the fluid level has been great - just the perfect amount. Each week that passes with Boston still inside is another week for him to grow and develop and become a strong, healthy baby. Grow, Boston, grow!

Upcoming Appointments

Although there are no other tests that can be done to make Boston's diagnosis any more or less conclusive, there are a couple of upcoming appointments that we are preparing for.

October 31 - Sonogram and doctor's appt: one week from today I have my "new patient" appointment with St. Luke's Perinatal Center. Until now, I had been seen by Dr. Magee and Crystal Murphy at Women's Care Group at Shawnee Mission Medical Center and had been going to St. Luke's for specialist consultations. With the likely diagnosis of Pierson Syndrome, it was recommended that I transfer all of my care to the Perinatal Center to work with Dr. Elizabeth Wickstrom, who is a perinatal specialist, meaning that she works exclusively with high-risk pregnancies. It will be nice to have all of my care located in one place because it means fewer doctors visits and more centralized care. All of my visits will be downtown, so I won't have to miss much work to go. Even though I have been there before, this appointment is classified as a "new patient" appointment. I will spend about an hour getting a detailed level 2 sonogram done, which is what I am most looking forward to. The sonograms really let me "spend time" with Boston, getting to see him as a real person and watching him move around. It is so neat to see what is causing all of the bumps and movement in my belly. I am also to eager to see how his kidneys are doing. How they look will give us a better idea of what to expect. If they look "bright", then that will give us a better idea to expect issues at birth. If they look normal, then we will have reassurance for another month that his kidneys look normal. It doesn't guarantee that he will have no problems when he is born, but it could tell us that at that moment they look fine.

I will also have a "nurses appointment" and a "doctors appointment." Since I haven't been a regular patient there, I don't know what these will consist of or why they are different. I will be glad to have my mom there for support through all of the appointments.

November 7 - Meeting with Dr. Blowey: Dr. Blowey is a baby kidney doctor at Children's Mercy Hospital. On the first Friday of every month he meets with pregnant mommies who have kidney diagnoses for their unborn babies. I will be interested to find out from him the ins and outs of baby kidney disease and what will happen when Boston is born. I am going to ask him what kind of tests they will do and when, what will be the circumstances where he has to stay in the hospital, how long will it take to find out if he has this disease, if he is born "normal," how long will we know that he really is "fine," and anything else that I can think of. I have been writing down questions as I think of them, but I welcome suggestions of things to ask. If you have had any questions about Boston's condition, please send them to me so I can make sure to ask Dr. Blowey about them. I am looking forward to talking with Dr. Blowey because he is the one that will be able to answer all of the questions about what will happen after Boston is born.

Monday, October 13, 2008

Updates to the blog!

I have put up a new picture of Boston, a list of prayers and accompanying bible verses, and (my favorite feature) a playlist at the bottom that plays the music we are listening to for comfort and support. Enjoy!

Tuesday, October 7, 2008


We want to keep track of who is praying for Boston so we can update you directly when we list new prayer requests and so we can delight in the power of prayer and strength in numbers. We think it will be a wonderful testament for Boston to see how many people were praying for him before he was born. Please email us at or leave a message in the comments.

Also, we are asking that we be added to any prayer chains or prayer ministries you have at your place of worship. If you are willing to involve Boston in corporate prayer, please let us know that as well and include the name of your organization.

If we didn't mention this before, please feel free to share this information with anyone that you know. We are not shy about making Boston's condition known and are hungry to connect with people who can offer support, encouragement, information, or experiences through like circumstances. Pass along our contact info and the link to the blog.


Sunday, October 5, 2008

The results are in!!!

The results are in and the marathon continues! We were waiting in anticipation for the results from Athena Diagnostics. In addition to testing for the two main causes of congenital nephrosis, mutations of the NPHS1 and NPHS2 gene, the lab also tested two of the rarer causes of baby kidney disease, mutations of the WT1 and LAMB2 genes. Unfortunately, the lab was not able to provide any definitive answers. We know for sure that Boston does not have congenital nephrosis of the Finnish type, because there were no mutations of the NPHS1 or NPHS2 genes. However, there were issues with the other two genes that make the doctors think it is likely that Boston will be born with a fatal syndrome that can also cause congenital nephrosis. We will not know for sure if he has these syndromes until he is born, but there are markers we will be watching for along the way that will tell us if it is more/less likely. We view this as an opportunity for increased prayer and faith in God’s unending grace and mercy, not to mention his unlimited power to heal both body and soul.

Our doctors received the lab results on September 30, 2008, and spent 24 hours researching and making phone calls to make sure that they had all the available information they could get. We are grateful for their diligence and hard work and are confident in both their knowledge and dedication to finding the correct diagnosis for Boston. Only two labs in the world test the LAMB2 gene, our lab, Athena Diagnostics, and a lab in Germany. The WT1 and LAMB2 genes were so recently linked with congenital nephrosis that Athena Diagnostics just started testing for them in July 2008. Boston is the first prenatal screen of the LAMB2 gene that has been performed; all other screens for the gene were done after the baby was born and the external indicators pointed in the direction of the disease and the genetic screen was done to confirm the syndrome. In our case, we are trying to diagnose the disease based on the gene alone, and will not have the external confirmations until Boston is born.

Our doctors were frustrated by the non-decisive results, but did their best to explain the outcomes and options. There are no additional tests that can be performed to give us more definitive results. Our answers will come after Boston is born. Until then, we wait, prepare, and pray.

We will do our best to try and explain the test results and what the doctors communicated to us. As we have stated previously, the first red flag was the incredibly high AFP result that came with the amniocentesis and the “bright” kidneys on the sonogram. All of the typical diagnoses for a high AFP were eliminated. Two explanations remained: testing Boston’s genes for some known causes of CNS and testing and testing Sarah for some sort of cancer/disease. Sarah has been all but ruled out as a cause for the high AFP.

We were expecting the results to focus around the NPHS1 and NPHS2 genes, because these are the most common. Instead, our results concerned the WT1 gene and the LAMB2 gene, which are the rare, newly discovered genes. The results from the tests of these two genes is where the uncertainty lies.

For each of Boston’s genes, he has two strands, one from Sarah and one from Brian. Understanding these tests requires knowledge of genetics from the freshman year of biology. Each trait, whether it is brown hair, blue eyes, or Pierson Syndrome, is either dominant or recessive. With a dominant trait, you only need the gene from one parent in order to have that trait. With a recessive trait, you would need a gene from both parents in order to have that trait. WT1 is a dominant trait, meaning that only one of the genes that Boston received would have to be mutated. LAMB2 is a recessive trait, meaning that both of the genes Boston received would have to be mutated. In looking at the genes, the lab technicians lay the two strands, one from Sarah and one from Brian, on top of each other and look for changes (variants) or mistakes (mutations).

The WT1 gene came back with what the doctors’ describe as a “variant.” This means that there is a change in the way one of Boston’s WT1 gene reads, but the doctors do not think it is enough to change the way the body performs. The example that our genetic counselor used was to look at the genes like a recipe. If the recipe calls for “sugar,” a mutation would change the word “sugar” to “salt.” This would mess up the whole batch of cookies. A variant is changing the word “sugar” to “suggar.” An experienced cook would look at the word “suggar” and know to add “sugar.” An inexperience cook might not know what “suggar” means and they may leave it out or just quit cooking. What we don’t know is what type of cook Boston is and whether his body will know what to do with the variant. Because mutations of the WT1 gene are dominant, it would only take one mutation for Boston to have this disease; however, so far the change has been classified as a “variant” and not a “mutation.” Athena Diagnostics’ response is that the variant is of “unknown significance.” Our educated guess is that Boston’s body will handle the variant just fine. There are some markers for a mutation of the WT1 gene that we can watch for on the sonogram and so far none of those are present. WT1 gene was so named after “Wilms Tumor,” which is a large tumor that grows on the kidneys when this mutation exists. So far, the sonogram shows that Boston’s kidneys are tumor-free. Another feature would be pseudohermaphroditic genetalia, meaning that we wouldn’t really be able to tell if Boston was a boy or a girl by looking at him from the outside. He is developing into a normal-looking boy, which is another reason we don’t think that the variant of the WT1 gene will cause any syndrome or disease.

Our prayers are going to be focused on the results of the LAMB2 gene. Mutations of the LAMB2 gene are known to cause a disease called Pierson Syndrome. Pierson Syndrome is a recessive disease, so both the gene from Sarah and the gene from Brian would have to be damaged in order for Boston to have Pierson Syndrome. The results from Athena Diagnostics told us that one of the genes is damaged. It was more than just a variant, it was a definite change in the gene and was classified as a mutation. If we knew definitely that only one of the genes was damaged, we would rest a little bit easier, because that would mean that Boston would be a carrier for Pierson Syndrome, but he would not have it. The doctors have told us that they cannot guarantee that the other gene is fine; all they can say is that they only found one mutation. It is possible that the other gene is mutated but they didn’t find it. Our prayers are focused squarely on this hope: that Boston has one broken gene and one normal gene and that he will be born without Pierson Syndrome.

Athena Diagnostics’ conclusions about this were as follows: Boston is at least a carrier for diseases related to mutations of the LAMB2 gene. The fact that one mutation was found “increases the likelihood that [Boston] may be affected with [baby kidney disease], even though the second mutation was not identified. However, the result is not definitive for the diagnosis of [baby kidney disease] since known or predicted disease-associated mutations in both alleles were not detected.”

Because of Boston’s high AFP, his “bright” kidneys, and the fact that he has one broken gene, we are preparing for the likelihood that Boston will be diagnosed with Pierson Syndrome after he is born. However, while we are preparing for that possibility, our prayers and hopes will be focused on Boston being born healthy and without complications.

If Boston does have two broken genes, it is likely that he will have Pierson Syndrome. Pierson Syndrome is extremely rare and new on the scene. The first diagnosed case in the US was in 2006. Only 30 cases have been identified in the literature so far worldwide. As we mentioned, Pierson Syndrome is caused by a mutation of the LAMB2 gene. The LAMB2 gene is so named because it produces the B2 chain of the laminin protein. There are twelve genes that help make the laminin protein: LAMA1-LAMA5: LAMB1-LAMB4; and LAMC1-LAMC3. Laminin is critical in forming the structural scaffolding of all of our organs, known as “basement membranes.” A mutation of the LAMB2 gene causes defects in the “glomeular basement membrane” of the kidney. Malfunctions of the GBM can lead to congenital nephrosis, which is discussed in detail below. A mutation of the LAMB2 gene also causes defects in the basement membrane of the eye. Babies born with Pierson Syndrome often have “pinpoint pupils,” called microcoria, due to a weakening of the muscles that dilate the pupils. Some kids are blind because of the changes in the eyes. The mutation of the LAMB2 can also cause a weakening in overall muscle strength (hypotonia) and a slowness of the brain’s reactions (psychomotor retardation).

As is evident from the above description, Pierson Syndrome is very, very bad. Of the 30 cases reported so far, none of the children have survived beyond age 5, usually due to complications with the nephrosis. This was devastating news to us when we heard it. We have taken time to adjust to the idea that we could lose Boston at a very young age.

However, we are encouraged by the fact that so few cases of Pierson Syndrome have been reported. We have recently been provided with studies that outline mutations of the LAMB2 gene that do not cause full-blown Pierson’s. These children, while they still have congenital nephrosis and some ocular abnormalities, generally have milder cases and therefore a more positive outlook. We are looking for information about Pierson Syndrome and are reading everything that is available about the disease. The “newness” of this mutation discovery puts us at an information disadvantage, but it also gives us hope that Boston could have a chance at survival if he does have the disease.

Nephrotic syndrome can be the side effect of some disease or can be the primary effect of certain syndromes. On its own, nephrosis is just a description of symptoms: lots of protein in the urine (proteinuria or albuminuria), swelling of the body (edema) that can cause high blood pressure (hypertension) and high levels of fat in the blood (hyperlipidemia). The flushing out of the proteins also means that a lot of antibodies are flushed out too, so there is also a higher susceptibility to infection. Nephrotic syndrome that occurs in older children and adults can be treated with steroids and so the prognosis (predicted outcome) is positive.

Congenital nephrosis is a different story. It is extremely rare and the prognosis is poor because it is resistant to steroids and other medications traditionally used to treat nephrosis. Congenital nephrosis will usually progress to end-stage renal disease within childhood (with Pierson Syndrome it is usually in the first year). When end-stage renal disease occurs, the kidneys shut down completely and the child can only survive through the use of dialysis. However, dialysis is not a long term solution and the child must receive a kidney transplant. The main complication is that babies/children have to reach at least 20 pounds before they can undergo a kidney transplant. Once end-stage renal failure occurs, it is very difficult to gain weight. The reason no child has survived beyond age 5 with Pierson Syndrome is because most the babies reach end-stage renal disease in the first few weeks or months of life, before they are 20 pounds. Then they can’t gain any weight and so the chance for a transplant is gone. Children with other forms of congenital nephrosis may not reach end-stage renal disease until they are older and so the option of a transplant is more available.

Bonus news about growth: as many of you know, Clark was breastfeed exclusively when he was a baby. Although he was only 7 pounds 10 ounces when he was born, he reached an unbelievable 20 pounds in a mere 3 months! Most babies do not reach 20 pounds until they are at least a year old. We would be blessed and thrilled if Boston followed in his older brother’s growth-steps and could put on weight so quickly. We can’t really count on it because the side effects of congenital nephrosis include a lack of appetite and problems with malnutrition. Most babies have to be on a battery of supplements and formulas, sometimes even intravenously, but we would love to have the chance to try and breastfeed Boston and see if he will super-grow.
A lot of times the best match for a kidney transplant will be one of the parents. One of the sites we have been visiting is, Children’s Organ Transplant Association. Most of the kids under the “kidney” link have received transplants from either their mom or dad. One of our prayers includes Brian or Sarah being a viable match for a transplant. Although a baby-sized kidney would be better than an adult-sized ones, the availability of a parent match is usually seized upon. Brian and Sarah have the benefit of both having the blood type of A negative, which is dominant, meaning all of our kids will hopefully have an A negative blood type as well. This should give us a great leg up for the transplant possibilities. For those who are wondering, Clark is out of the running to be a transplant candidate because (1) we wouldn’t put him through that and (2) even if we would consent to the testing, we couldn’t. Because the donation of a kidney puts you in a weakened state kidney-wise, he has to be of a certain age to consent to such a major surgery and we cannot consent on his behalf.

Whew! As you can tell, this is quite a bit for us to process. What we know right now is that Boston is doing great. Our ultrasound on October 1, 2008, told us that he is doing awesome. He is growing like a champ. He is topping the 90th percentile in size for his age. This ultrasound showed us that his kidneys didn’t look “bright,” but the doctor thought they looked “textured.” We will go back in four weeks for another sonogram. Most kids who have congenital nephrosis will have a couple of signs on the sonogram: (1) bright kidneys and (2) low levels of amniotic fluid. Both of those looked fine this time, and we will continue to watch for these signs.

Here are our prayers:

Our ULTIMATE prayers:

  • That Boston will only have one broken gene, not two, and that he be born normal and healthy with the correct production of laminin.
  • That we will be able to teach Boston how much God loves him and raise him to know Jesus as his Lord and Savior.
  • That this experience will strengthen our relationship with God and be an opportunity for us to share our faith with others.

Prayers for the pregnancy:

  • That Boston’s kidneys will continue to improve and show no sign of “texture” or “brightness” on the ultrasound.
  • That the level of his amniotic fluid will stay normal in order to allow his lungs to develop and to reassure us that he does not have complications.
  • That we will focus on the joys of each day and be reassured that “Today Boston is GREAT” and not borrow the unknown sorrows of the future.
  • That every day we will “Live, Love, Forgive, and Never Give Up.”

Prayers if Boston is born with a disease:

  • That he be healed completely.
  • That he has a mild form of disease that does not affect his functionality.
  • That he will have use of his eyes and not be blind.
  • That his muscles will be strong and his brain alert.

Prayers if Boston needs a kidney transplant:

  • That he will grow quickly and gain weight well in order to reach transplant size.
  • That Brian or Sarah would be a match for the transplant.

We will be updating this site with new information about Boston and information about the possible disease. We will also be including songs and bible verses that have been impacting us, and prayers that we are lifting up.

Bible verse: Psalm 37:23b (New Living Translation) “The Lord delights in every detail of our lives.” This short verse reassures us that as God was makes Boston, he delights in every detail, including the writing of his genes.

Friday, September 12, 2008

Full Chromosome Analysis Is Negative (Which is GOOD)

Susan, our genetic counselor, called today with the results of Boston's full chromosome analysis, which analyzed the genetic structure of all of Boston's chromosomes. No chromosomal abnormalities were detected. These were the results we were expecting, as our concerns have been focused on Boston's kidneys, not his chromosomes. The amniocentesis looks at two things: the AFP level and the full chromosome analysis. It is always great to hear good news, and the lack of abnormalities in his chromosomes rules out things like Down Syndrome and other chromosome disorders.

Monday, September 8, 2008

Baby Boston's Marathon

Sarah and Brian are thrilled to be expecting another son to be born in February 2009. His name is Boston Preston, and he is a confirmed boy with XY chromosomes. He is growing and developing well; however, there may be something wrong with his kidneys. The thorough and dedicated doctors (especially Susan, our genetic counselor) at St. Luke's hospital have been wonderful. Boston, like all other babies, produces hormones and proteins that we adults do not make. One of these proteins, the alpha-fetoprotein (AFP) is MUCH higher than normal. The reading in Sarah's blood is 20 times higher than normal. After performing amniocentesis, the doctors discovered that the AFP reading in Boston's amniotic fluid was 65 times higher than normal.

We have already been blessed, because 90% of the babies with an AFP reading as high as Boston's are either already dead or dying. Our baby boy, however, looks great on the ultrasound, with the exception of a couple of "bright" kidneys. He is growing great and all of his developmental markers are being met. The doctors have ruled out most of the causes of such a high AFP, including spina bifida or other open neural tube disorders, any sort of bleed or rupture around the baby, and Sarah having cancer or liver disease.

The remaining item on the doctors' "what could be causing this" list is a rare (as in 1 in a million) and life-threatening genetic disease called "Finnish Congenital Nephrosis." It is so rare there is not even an entry for it on Wikipedia. Roughly translated, the name means "kidney disease you have from birth." The "Finnish" part indicates the fact that while the majority of the people in the world (including us) have a 1 in a million chance of having congenital nephrosis, but people in Finland (for whatever reason) have a 1 in 8000 chance of having congenital nephrosis.

Lucky for us, there is a genetic test to diagnose this disease and it has a 95% accuracy rate. Because the disease is so rare, there is only one lab in the country that does the test. Coincidentally, it is also the same lab that did the genetic testing for Brian's myotonia. Athena Labs, we thank you. The lab will actually take a grown culture of Boston's DNA and read it forward and backward, looking for the genetic marker. Because of the involved nature of this test, it will take 2-3 weeks from the time the lab receives the sample before it can get us the results. The lab should get the sample sometime within the week, so we should have the results within a month or so, around the first of October.

Although the disease is life-threatening, there is a definite plan of action that is taken for babies with this disease. Provided that the baby makes it to birth, the baby is put on dialysis until he is big enough (20 pounds) for a kidney transplant. If the kidney transplant is successful, the baby will take anti-rejection drugs for the rest of its life, but there are no other anticipated complications.

Regardless of whether the test for "Finnish Congenital Nephrosis" comes back positive or not, Boston still has a ridiculously high AFP. As a frame of reference, babies with spina bifida have an AFP that is 3 or 4 times too high; babies with congenital nephrosis usually have an AFP that is maybe 8 or 9 times too high. Boston's is 65 times too high. Like all Prestons, he seems to be an over-achiever :) Provided this AFP stays high, which without God's miraculous intervention it is likely to do, Sarah will have increased monitoring to track Boston's growth and confirm his survival. Every time it is confirmed that his heart is still beating, it will be a miracle.

As we wait a month or so for the results of the test, we have some specific prayer requests. We are not timid in asking God for what we want, and ask that you do the same:
  • That Boston would be completely healed and that he will be born healthy with no complications.
  • That the doctors will find a cause for his ridiculously high AFP and be able to treat it accordingly.
  • That Sarah and Brian will have God's peace that passes all understanding as they love and care for Clark and Boston.

Please pray for us and for our smallest son. We will keep you updated.