Tuesday, May 7, 2013

Genetics Consult

Landon had his first real doctor's appointment today. We met with a pediatric genetics specialist (whom also happens to be my mom's boss) in Lincoln so that he could get his first in-person analysis of Landon. Dr. Schmidt has seen lots of Goat's lab work and scan images but I know he has been wanting to get a hands-on exam for almost three weeks now. After last night's wail-a-thon from 1:30 to 5, I think we were all exhausted at the appointment, Landon included. As they say, no rest for the weary though, and the exam proceeded as scheduled.

The first thing we learned was that Landon is finally gaining weight. After being stuck at 7 lbs and 2 or 3 ounces, he weighed in at 7 lbs 12 oz this morning. He has also grown just over an inch since his birth at 22 3/4 inches. This is great progress and we definitely had some ground to make up but we have to be careful. Too much weight to fast could make things harder on Landon in the long run because, due to his diminished muscle tone, he doesn't build muscle as fast as other babies. If we weigh down developing muscles with fat we could definitely make things tougher instead of easier.

 My beautiful sister Mikaela and a very sweaty Little Goat

Along with measuring his height and weight, Dr. Schmidt took a myriad of other measurements including the length of his hands, chest circumference, head circumference, foot length, distance between the eyes, height of his ears, etc. Many of these measurements can help give him a clue as to what type of genetic disorder may be affecting Landon but the results were, as usual, slightly inconclusive. We did learn that Little Goat's head circumference has not increased and this is discouraging. When a baby develops, the growth of their cranium is determined by the growth of their brain. A lack of head size increase may mean that Landon's brain is not growing larger right now. However, there are alternative possibilities. If the amount of fluid around his brain is decreasing at a pace equal to or greater than the growth of his brain, that will decrease the amount of pressure exerted on his skull. The radiologist at Stormont-Vail had the opportunity to observe the cranial ultrasound from Wednesday and agreed with my assessment that there was less fluid in the ventricles of his brain and possibly from the subdural hygroma, although it's difficult to tell.

With his genetic reference, Dr. Schmidt gave a different possible pathogenesis (sequence of events) than we have heard before. My understanding of the neonatologist explanation is that fluid accumulated in the area around Landon's brain and prevented the brain from growing to fill that space. The new theory from today, which makes more sense to me, is that a genetic defect prevented the white matter of Landon's brain from growing correctly. The blood supply to the white matter emerges from the dura, a membrane that is attached to the inside of the cranial bones. Because the white matter never grew closer to the skull bones, the vessels stretching from the dura to the brain were unsupported across open space and occasionally tore due to even the slightest movement and bled into the area around his brain. Dr. Schmidt is confident that the fluid around Landon's brain is blood and not serum. The blood did not cause the small brain but rather filled the space because it was there. These vessels are not actively bleeding and the pathogenesis really doesn't change the end result much but it may give us some insight into the genetic mutation that is causing this. Our genetics micro-array (our best hope at a diagnosis) came back today as inconclusive but we will send off more blood for a more sensitive version of the test later.

The exam today was no restful event for Landon and he was very upset, particularly by the poking and prodding as he was checked for sensation. Afterwards we were left with one tired baby that slept heavily most of the rest of the day. While he slept, Karen and I discussed a few of the insights from Dr. Schmidt and talked about some of our upcoming decisions. With the new pathogensis comes a different prognosis. Although Landon's condition is unique, there are many other disorders that cause microcephaly (a small brain). These children have varying degrees of outcomes, ranging from very poor (less than 1 year) to almost normal development and ability to learn and everything in between. While the failure of Landon's cranial circumference to increase and the continued seizures are discouraging signs, his ability to gain weight and his display of a gag reflex for the first time today (hurray!) are very encouraging. So what does it all mean? Well, as usual, we don't really know.

With the probability of an increased life span improving, Karen and I have decided that placing a G-Button, or gastrostomy tube, for feeding is a good idea. I changed Landon's NG tube today and let me tell you, that is not a fun experience for anyone involved. Not only does it scratch and rub on the inside of his nares and esophagus but the tape to his face is very irritating and uncomfortable for him. We also worry about him grabbing and pulling out his tube as his motor skills improve. With these things in mind, we've had Dr. Schmidt contact a pediatric surgeon in Omaha to schedule an appointment for this summer.

After the exhausting day Karen, Landon, and I have had today, we are hopeful that he will sleep through his normal period of frustration. We just finished his 3 am feeding and so far, so good! We think part of the problem is that his loud breathing from the poor tone in his vocal cords wakes him. Without Karen or I awake to reposition him when the volume of his breathing increases, he gets frustrated and starts to cry. Once he starts crying, he works himself into a frenzy and is very difficult to calm after. However, we will see as almost every theory we have about Landon is just a (poorly) educated guess.

After seeing the depths of Dr. Schmidt's knowledge today, I am continually blown away by our fortune to live in the age we do. 150 years ago, Landon would have died in a matter of days or even hours. Fifty years ago we could have probably kept him alive but would have had no idea what was wrong with him or even what tests to run because they didn't exist yet. Even 5 years ago the new micro-array we will be running in the near future didn't exist. The wealth of medical knowledge and experience that surrounds us is truly incredible and a testament to the human mind and perseverance. Pursuing knowledge about the world around us and delving deeper into the way things work is critical to improving the lives of ourselves and our future generations. I want my children to grow up knowing that they can make great contributions to the world and to the lives of people by hard work and persistence. Even in the bible we find that exploring and learning about this earth and the life on it is part of our responsibilities as inhabitants here.

An intelligent heart acquires knowledge, and the ear of the wise seeks knowledge. - Proverbs 18:15

How much better to get wisdom than gold! To get understanding is to be chosen rather than silver.  - Proverbs 16:16

Do you see a man skillful in his work? He will stand before kings; he will not stand before obscure men.- Proverbs 22:29

These were some of my favorite verses growing up. How beautiful that God has given us this wonderful creation around us that can fill all of our lifetimes and infinitely more with the pursuit of knowledge! Landon represents one of the most wonderful of these opportunities. Not only are we blessed by his lessons of love but also by the insight he provides us into genetics and the unique mutation he has. Thank you to all the incredibly intelligent doctors and nurses who are making incredible efforts to learn from and about Landon and trying to improve his life.

Learn from yesterday, live for today, hope for tomorrow. - Albert Einstein

1 comment:

  1. It always warms my heart to hear that Landon is improving. I will keep praying.