Since last year, my son and I have been a part of a seemingly never-ending process of specialists trying to learn more about my son's disorder and to hopefully see if there is something that modern medical science can locate as the source for his diagnosis. Today, we spent yet another afternoon in Houston for a follow-up meeting with my son's pediatric neurologist. Thankfully, all of the tests that he had ordered a few months back returned normal, with only a few minor issues. A day before his 3rd birthday, my son went through a full day of diagnostics via 2 MRIs, an EEG, and more blood work. The only issue that came up was a few vitamin deficiencies.
During all medical visits, my mother-in-law accompanies me so that she is on the same page as I am regarding his medical care; she is VERY involved in seeing to his needs, even to the point of managing the purchases of some key dietary requirements. In today's visit, both of us had to work hard to fully understand what the neurologist was telling us. My experience in giving presentations made me aware of his inability to speak on our level. He would say "um" several times in every sentence he uttered. He had difficulty explaining the neurological aspects that he was interested in regarding my son. We had to ask him several times about the differences between milliliters and micrograms and how many micrograms are in a milliliter (neither my mother-in-law, nor I, are well-versed in metrics or their conversions). My son's blood work found a deficiency in the vitamins B-12 and Carnitine. Vitamin B-12 is essential for the maintenance of nerve and red blood cells and is also responsible for making DNA in all cells, and autism research has found this deficiency to be common among autistic children. Carnitine is essential to energy production, transporting long-chain fatty acids to the mitochondria to be oxidized, thereby producing energy for the body. He tried to tell us that these deficiencies needed to be reversed by supplemental intake based on micrograms and that it was not so much doing a conversion between milliliters and micrograms, but more about the ratios between my son's size, the requirements for a child his age, and the amounts he would need to reverse the deficiencies.
One of our biggest hurdles through this medical maze is the jargon that we must work to understand. I've had some doctors who are great at breaking down conversations into layman's terms, but I've also had some doctors, such as this one, who are more adept at speaking with people who are already indoctrinated into the world of medicine and understand the terminology. Thankfully, I'm good with words and I was able to translate much of what he said, but my gift of words goes only so far. I'm still scratching my head trying to absorb today's conversation. There's much to be said for speaking plainly.
As a side note, after our meeting with the neurologist, my little boy went through another round of blood work, amounting to approximately 10 vials of blood for a genetic chromosomal microarray analysis, which is a more refined examination of his chromosomes for any deletions or replications in his DNA codes. This is to see if there are any rare genetic disorders that could be the cause behind his delays in cognitive development. This test has the potential to not only pick up on previously unknown genetic problems, but also to provide important medical information to the rest of the family regarding any problems in our genetic makeup that could become a factor in the birth of future children. After this, I think it's time to stop with the tests. His only problems have been in the area of nutrition, and while he has a very healthy diet, this doesn't mean that he's metabolizing nutrients the way his body should. It's just a matter of tweaking his diet to make up for what he can't do for himself.
During all medical visits, my mother-in-law accompanies me so that she is on the same page as I am regarding his medical care; she is VERY involved in seeing to his needs, even to the point of managing the purchases of some key dietary requirements. In today's visit, both of us had to work hard to fully understand what the neurologist was telling us. My experience in giving presentations made me aware of his inability to speak on our level. He would say "um" several times in every sentence he uttered. He had difficulty explaining the neurological aspects that he was interested in regarding my son. We had to ask him several times about the differences between milliliters and micrograms and how many micrograms are in a milliliter (neither my mother-in-law, nor I, are well-versed in metrics or their conversions). My son's blood work found a deficiency in the vitamins B-12 and Carnitine. Vitamin B-12 is essential for the maintenance of nerve and red blood cells and is also responsible for making DNA in all cells, and autism research has found this deficiency to be common among autistic children. Carnitine is essential to energy production, transporting long-chain fatty acids to the mitochondria to be oxidized, thereby producing energy for the body. He tried to tell us that these deficiencies needed to be reversed by supplemental intake based on micrograms and that it was not so much doing a conversion between milliliters and micrograms, but more about the ratios between my son's size, the requirements for a child his age, and the amounts he would need to reverse the deficiencies.
One of our biggest hurdles through this medical maze is the jargon that we must work to understand. I've had some doctors who are great at breaking down conversations into layman's terms, but I've also had some doctors, such as this one, who are more adept at speaking with people who are already indoctrinated into the world of medicine and understand the terminology. Thankfully, I'm good with words and I was able to translate much of what he said, but my gift of words goes only so far. I'm still scratching my head trying to absorb today's conversation. There's much to be said for speaking plainly.
As a side note, after our meeting with the neurologist, my little boy went through another round of blood work, amounting to approximately 10 vials of blood for a genetic chromosomal microarray analysis, which is a more refined examination of his chromosomes for any deletions or replications in his DNA codes. This is to see if there are any rare genetic disorders that could be the cause behind his delays in cognitive development. This test has the potential to not only pick up on previously unknown genetic problems, but also to provide important medical information to the rest of the family regarding any problems in our genetic makeup that could become a factor in the birth of future children. After this, I think it's time to stop with the tests. His only problems have been in the area of nutrition, and while he has a very healthy diet, this doesn't mean that he's metabolizing nutrients the way his body should. It's just a matter of tweaking his diet to make up for what he can't do for himself.
No comments:
Post a Comment