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Thursday, March 23, 2017

Calling in the Big Guns

I have spent the past two days talking to my amazing specialists about my son’s genetic results. I spoke to the head of the JASPER team at UCLA. They connected me with the head of the whole Neurological Department at UCLA and I spoke to him for 15 minutes. Both of them said the same thing, that we don’t know anything. That even though we can see these markers we don’t really know yet how those translate into behaviors in individuals. And that there are so many things we still do not know about autism and how it represents in the genes.

I also called and spoke to the psychologist that diagnosed my Little Cricket with autism through the Westside Regional Center. She said that it could explain how my Little Cricket doesn’t fit perfectly into the autism label. That I should continue to work with the therapists that are allowing my son to grow so much. That I should continue to use the autism label, because he fits the criteria and that we don’t know. And that if he grows out of it in the future then I will have my answer. Basically a wait and see approach.

I made an appointment with my Little Crickets developmental pediatrician to go over the results and for a checkup.

I also called a pediatric neurologist who basically followed what the people at UCLA stated. That the medical community knows enough to now identify these duplications and deletions but that they don’t know enough to actually do much with the information yet. And that we know even less about autism. She encouraged me to work on expanding the limitations that my son has. To not focus on the diagnosis but instead on the symptoms.

And so I am left, a little more hopeful that it might end up not being autism, tempering that with realism that it just might still be. I tell myself not to think, to just put my head down and work, but it is like a bump, itching to be scratched.

Wednesday, March 22, 2017

My Little Cricket’s Delay: Genetics Results

In March of 2016 I took my Little Cricket to his general pediatrician about my sons delays. On that day I got a referral from her to do a genetic test. It took 3 months to get an appointment with a geneticist. It took another 6 months and three rounds of denials to try and get my insurance to cover the tests my son needed. And then in January my husband’s insurance switched; which means that I had to start the process all over again. SIGH,

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Finally in April 2017 I got an approval from my insurance for 2 of the 11 tests my doctors recommended. We decided while I continue fighting insurance I would at least get the two tests we did get approved done. We got the blood drawn, the blood was sent to the lab and we waited to get the call to come in for the results. That call came in and we went in for our appointment today.

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I didn’t know what to expect. I really had no expectations. I am done with expectations because I am almost always blindsided. So with no expectations our geneticist explained how my son has a rare duplication on his 16th chromosome; duplication on the short P arm in a few different areas. She proceeded to explain that this duplication is rare. That there are not many documented cases of people with it. And even the ones that do have the exact same duplication on the exact same line have duplications on different genes. They do know that kids with this duplication have speech delays, they have global developmental delays, that some kids develop ADD and a very few 7% end up with a grand mall seizure disorder that shows between the ages of 4-9.

My geneticist also stated that because of this new information and the duplications that my son has that there is no way that he has Autism. At first I was in disbelief.

Absolute frozen terror.

I have just spent the past four months trying to come to terms with the fact that my Little Cricket has Autism. But a part of me has still fought it. I didn’t want to let this kernel of hope spiral out of control. Because what if she is wrong.

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I am more confused than ever. On one hand this could be an amazing thing. Finally a black and white answer to the question I have been asking over and over and over again. On the other hand what if it is a genetic mutation that caused his autism.

The geneticist, when she met my Little Cricket last year, didn’t think that my son had autism. And now she is adamant that is not what he has. She said that children that get labeled with autism and who grow out of the label in her opinion never had it in the first place. And she was positive that by age 6 or 7 my Little Cricket will no longer meet the autism criteria.

For now my head is spinning. There is no doubt that this is another piece to the puzzle. How it effects the whole picture is yet to be seen.

Tuesday, June 7, 2016

My Little Cricket’s Delay: Week 9 – Sequential Oral Sensory

Week 9 and still no progress to getting my Little Cricket to eat the food off the target list (Scrambled eggs, butternut squash). He is playing with it more which is good. But this is the long long long long road.

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Peanuts
Corn
French fries
Granola
Scrambled eggs
Banana
Butternut squash
Dried mango
Kern’s Mango nectar (another high calorie drink!) – couldn’t find

Science Center with Mr. Rogues Aunt and Uncle

Everyone else had to work today so I offered to meet Mr. Rogues relatives at the science center with the kids. Neither of them had seen the Endeavor and my Little Cricket always have a blast playing with the various exhibits. Of course the aquarium was a big hit with both kids. We were even able to see some rarer aqua creatures; the octopus and the salamander. At the kids play centers they had fun exploring, I had a hard time keeping my Little Cricket from his favorite room, the room with the 14 ipads filled with games and puzzles. Those are right up his alley. To end up we grabbed a quick lunch before going our separate ways, them to the train station and us home sweet home.

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Monday, June 6, 2016

My Little Rose: 45 Weeks Old

Every week with you just gets better and better. I am feeling so wonderful with Grandma still in town and she is enjoying time with you so much. No one can deny your adorableness.

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As we suspected you officially got your first tooth cut in this week. And now you have a tiny little snaggle tooth. Only one. Vampire style just like your brother had.

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Today you managed to finally get up on your hands and knees crawling but we didn’t get it on camera, daddy and I both saw you do it. But immediately after when I tried to record it you revered to your same old army crawl. Maybe next week I will get lucky and be able to record it.



Its starting to get hotter, you are old enough to sit up with good balance so I busted out the bathing suit for you this week. We set up the little pool and you had a blast for about an hour splashing away. I have to be so careful with you outside. You want to put every little bit of everything you find in your mouth, and I don’t really want you crawling around on your belly on the cement and in the dirt. Soon enough you will be running around with your brother, until then I will make sure you are supervised closely.

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Grandma is still here helping and things get done a little differently than we normally do things. For instance, our deep bath tubs are hard for grandma to bathe you in. So now you are getting baths in the kitchen sink! At first I thought it was really strange but then I had to admit it IS easier. Therefore all week you have been getting your baths done in the sink.

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I have been over the past few weeks been trying to get you to learn how to drink out of straw. It’s been slow going but I want to transition you out of bottles soon and into sippy cups. I have been working with you and a regular straw, holding my finger over the end with some water in it, and then having you work to suck the liquid out. You have that pretty down pat now, the issue is having you suck a kids cup straw now. Baby steps little girl, we will get there.

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Cami needs so much right now and I am constantly shifting between what he desperately needs and giving you enough attention life is hard right now for sure. I also struggle with guilt that you don’t have my undivided attention all the time, that I am not doing enough, that I am not there for you every time you need me, that I have to hire babysitters to help, that I am not making you your baby food, that I stopped breast feeding. The list is endless. I also hate that I have to wake you up from your nap that I have to modify your natural rhythm because of your brother’s schedule. It is our life right now and all I can do is my best. You seem to be taking it all in stride though. Thank goodness you are such a wonderful mellow go with the flow kind of girl.

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