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: http://www.childrensmercy.org/findadoctor/view.aspx?id=3241

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: http://www.childrensmercy.org/findadoctor/view.aspx?id=9179

The link to Dr. VanDeVoorde's article on Pierson Syndrome is here: http://pediatrics.aappublications.org/cgi/reprint/118/2/e501

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:

Prenatally
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!

Feeding
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.

Treatment
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.

Dialysis
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.

Donors
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.

Follow-up
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.