Last Thursday, I had a follow up meeting with the geneticist to go over the more advanced microarray genetic screening test for Luki. I went in thinking I would get a more accurate picture of the extent of chromosome 15 duplication. The original standard genetic test does not reveal the fine details that reveal how severe his symptoms are; it just told us that he HAD the chromosomal duplication and apparently, it's important to find out the extent of the duplication because the longer it is, the more severe the symptoms. Initially, the geneticist did not feel it was an important test and was hesitant to put the order in. In fact, she stated that Kaiser will not pay for such a test since he already received a diagnosis with the first test. I started looking for companies that would provide this test and was willing to pay out of pocket, if need be. But, in one last desperate attempt, I petitioned the geneticist and gave a lengthy rationale for why he needed the test and she suprisingly agreed to put in a requisition form for it. Last Thursday, upon finding the results, she was very "proud" that I insisted on the microarray test as the results revealed a surprise that neither she nor I had even suspected.
Along with the duplication on chromosome 15, we discovered that Luki has another chromosomal duplication (a triplicate copy) on chromosome 17 covering a gene that encodes for neurofibromatosis. I have dealt with a few patients in the past with this condition and I knew they had very severe skin tumors that were both painful and unsightly but never have I imagined that my son would be affected by it. Wasn't one duplicated chromosome enough? He has another duplicated gene? How could this be? I went straight to researching more about this condition and found out that the deletion of the gene is responsible for the disease but a triplicate copy shows very mild , if any, symptoms - usually cafe au lait spots in small parts of the skin. I also learned that this condition was inherited through the paternal line and at about the time of puberty, benign tumors grow along nerve cells and deposit near the skin surface that can be uncomfortable and disfiguring for those severely affected. Other symptoms such as developmental delays seem to overlap with the symptoms he already has with IDIC 15. I wondered if the mucocoele he was born with in his mouth was somehow related to this new genetic condition. He had it surgically removed when he turned one, but the doctor warned that it may come back. He also had an abscess in his butt when he was born which went away with antibiotic creams. He has a small cafe au lait spot on a butt cheek which we dismissed as a birth mark, but now I wonder if it is a condition related to neurofibromatosis. The geneticist did not feel there was much to worry about since he has the duplicated gene and the more severe cases involve the deletion of the gene. But yet, I worry and fear about what to expect in the future.
God has thrown my little family another curveball and I am somewhat confused about the meaning of it all. I prayed for the best but was that the wrong way to pray? It is what it is and God gives what He gives. I realize that my prayers have been dictates to God on how I wanted things to be run. I wanted the outcomes I wanted, but of course, God's ways are not my ways and His thoughts are not my thoughts. What I still have faith in is that God's way is the best way and His thoughts are the most loving, holy and beyond the comprehension of my little mind. This is the faith I cling to these days because the alternative is too sad, scary and depressing to accept. Besides, even if God is wrong, who is to say the alternative is right?
Why worry about what may happen 15 -20 years down the line when, at this moment, my little Luki is absolutely amazing in my eyes. Every moment is joyful with him and I am so glad and happy he is with me. Every little milestone becomes a cause for celebration - and I mean EVERY little milestone. I am learning to live in the present moment more and not fret about a future possibility - a hard feat for me but something I am learning to do with my son as my teacher. And, my son is also teaching me how to change the nature of my prayers. Instead of dictates and commands to God, now I pray only for Him to surround us with His presence, love and protection as we go through this journey - through the hard times and the easy. I pray that in the midst of the trials, He surround us with good , kind and helpful people; that he lead us to a path of Love and that our spirits would be full of joy. I also pray that I would be one of those people for someone else experiencing a similar fate.
And with that, I sign off tonight.
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