The days seem to fly by so fast with a baby in tow at home. A few feedings, diaper changes, naps and baths and the day has flown by so quickly. Today was no exception and I just wish I could etch each second with Lucas in my soul and stop time for a while and really be present in each moment spent with him. In practicality, food needs to be prepared, the house needs to be cleaned, etc..Maybe because of his condition, I feel as if something is going to happen to him and I have to distill all this bonding before such an event happens. It's probably not a healthy way to think but the IDIC 15 Alliance has issued a SUDEP warning which stands for sudden unexplained death .......Researchers have found that some of the children with this condition die unexpectedly and nobody can find a reason why this happens - somewhat like SIDS but in older children. The thought of it makes me so very sad and I try not to ponder such an event. I am declaring to God, the universe and all creation that my son WILL walk and talk. But, as evidenced by his play at the kids play area at the mall today, I have a feeling God's ressponse may take some time.
While toddlers younger than Lucas were walking and interacting with other children and their caregivers, my Lucas was having a hard time just standing and getting his balance and establishing proper gait due to his ataxia. He crawled pretty well to get to an activity station but I could tell the physical exertion was making him tired easily. Upon my coaxing him to play with the toys attached to the walls, he seemed myopically fixated at repetitively spinning one toy item. And, instead of showing interest at climbing toy cars, buses, he seemed pleased just to gaze at his hand and laugh at it. One part of me thought,"well, he just wants to be a baby a little longer" and I found it cute. But, another part of me felt very sad that he was missing out on being like all the other kids, being normal. As a baby, children are not judgemental of differences, but I wondered how he would be accepted as he gets older.
Once again, sad feelings takes me into a deep philosphical thinking mode about life and the meaning of it all and I waste precious time asking myself rhetorical questions of why, why, why? Once I get into the thick of it, it gets so hard to snap out of it. But snap out I must, for I am now a mom of a special needs child - words I never thought would be uttered by my lips. And with that comes a very disciplined lifestyle and a deeper kind of trust and faith in God's plan for good. At least, that is how I choose to believe. Maybe on another blog, I will address all the crazy as well as the profund spiritual rationales I've come across. For now, I sign off for my precious Luki has fallen asleep next to me and I want to gaze a little longer into his sweet little face before I fall asleep myself.
Good night.
Wednesday, February 27, 2013
Sunday, February 24, 2013
God Throws Another Curveball.
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.
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.
Tuesday, February 19, 2013
February 19, 2013 - Luki's update
The geneticist, Dr. Abboy, has called us for the results of the microarray test. We will be going in this Thursday at 10 AM. I am hoping the duplication is minor but we will see what she says. He also has a autism screening mid March with a developmental pediatrician. I am not sure why they want to do this test right now. The case manager of the Regional Center says that the result may not be accurate at this age. The RC will do their own independant autism screening with a developmental psychologist when he turns 3. The only reason I can find for this test now is that both RC and Kaiser are trying to get the other to foot the bill for services. Financial reason is the motive, not the best interest for my son.
I also made an appointment with a naturopath, Dr. Karima Hirani in Culver City. I am glad she is DAN certified and also an MD but not happy with her hefty hourly rate. She charges $400.00 an hour for the initial consultation and also we need to pay for any extra labs and supplements she orders. I'm glad Gabriel set aside the maximal amount for his healthcare expense account this year. We may be using all of it for Lucas this year.
I've also initiated a facebook support group for the Evergreen Church's Journey support group. I've had this strange urge to attend that church about a month before Lucas' diagnosis. The church is right across the street from home but I never had this kind of urge to go before. I believe it was the holy spirit guiding me to be a part of the Journey's group. Thank God Gabriel didn't think I was crazy and humored me by going with me to church. I think he is getting alot out of the meetings,too.
On a more positive note, Lucas is more responsive to speech and sound. He likes to giggle to the sound of "ribbit ribbit" and "gorilla". He giggles when he gets to the page when the gorilla shows up in his animal book. I put his hand over mine and tap my mouth while I make Indian sounds. He gets a kick out of that and now, every time I hold him, he puts his hand to my mouth. So cute... I am finding him to be more and more cuter every day. I can't help but smile when I think of him. And, I am amazed that he came through me. I am so happy he chose me to be his mother.
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