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.