The decision to go to Miami was an important one, and I do believe that the drive was well-worth the results.
Thankfully, my husband was able to go, so I did not have to drive. Instead, I spent much of the drive down to Miami gazing out the car window and meditating what was and what could be. There were times where I would gaze out at the tree farms for a brief moment, but then I'd look at the clock and thirty minutes had passed. And, at other moments, time stood still.
Once we arrived at Miami Children's hospital, I knew we were at the right place--MCH had pediatric doctors of every specialty.
We got into the Geneticist's office about an hour early, but they took us back right away. We spent the following hour with a resident doctor, discussing some of the indicators we had observed, as well as creating a family history profile. The doctor also reviewed the bloodwork sent over by the neurologist. Unfortunately, the genetic microarray was not yet completed from the lab facility (as it takes about 6wks), and that was an important thing they really did want to see.
Finally, the geneticist came in. As the resident doctor reviewed our case with the geneticist, she inquired for further details on certain aspects, such as how long he had been receiving therapy, if MRIs had been ordered, was a brain MRI included, when they would be performed, what were to qualifications of our neuro-opthamologist, what milestones was he not meeting...?
The questions continued at a steady, calm pace until we finally arrived at the labs from the neurologist. Then, the geneticist frantically flipped through the labs to compare the elevated aclyocarntine with other levels measured. She spent a good five minutes talking to herself, flipping back and forth through the lab reports, before she finally asked us if Brandt had any problems with his newborn screening. She continued to explain that this problem should have been identified then, and that it is extremely rare for this type of problem to go undetected or to develop after birth--but noted it does happen. The geneticist ordered a second set of labs to confirm the previous findings, but did indicate that if the labs confirmed the condition that it would be a mild case of isovaleric acidemia.
Isovaleric acidemia is a genetic condition that is characterized by the mutation of the IVD gene. Each parent must be a carrier of the recessive gene mutation. This gene plays an important role in the breakdown of the leucine protein, which is found in eggs, fish, poultry, and meat. Upon breakdown of these amino acids, energy is made for growth and development. When these proteins don't break down, however, abnormal levels of organic acid builds up in the blood and can cause a wide range of complications from mild to severe, including poor feeding, vomiting, seizures, lethargy, coma, and death.
The geneticist then moved on to a physical exam of Brandt. She poked, prodded, measured, and tested him in various physical and developmental aspects. She then commended the neurologist in ordering the brain MRI and said that the results from that might point us in the right direction. She examined Brandt's sacral dimple and said she did not think that the dimple would be the problem and said that the brain MRI will probably show us what we need.
I was relieved that his metabolism condition would be a mild case--at worst. I was relieved that the geneticist wasn't alarmed by the sacral dimple. I was, however, mortified by her continued insistence on the brain MRI. In many instances, the spine can be fixed with surgery. Metabolic conditions can be regulated with a restricted diet and supplements. What can they do for a brain condition--nothing that I know of...?
So, we press forward. We keep going, and we fight harder. Unfortunately, we will not return to the geneticist until mid-July. We will, however, have the spine and brain MRIs in week, and then we will follow-up with the neurologist for those results a week later. Brandt will be tubed at the beginning of June, and he will see the neuro-opthamologist in mid-June. And, then, in July, we will return to the geneticist--unless, he is walking and talking in two months time! :D
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