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.