Someone in Azerbaijan Loves Me

Someone in Azerbaijan Loves Me
Originally uploaded by vczdavis

I got an email today from the Mind Institute, it had some of Holly’s Blood test Results, and she has a CGG Repeat of 33 on one X and of 702 and 866 on the other. I don’t know why this took me off guard, I mean obviously I know Holly has Fragile X she is in Therapy and all, but I guess I was just expecting this to be different.. it wasn’t like I thought she would not have it, but when we did the Amnio she had mixed results that showed repeats of 33 89 112 and over 400 so I guess I had thought maybe she was Mosaic…

“Mosaicism: When referring to fragile X syndrome, the term 'mosaic' means the presence in one individual of both a full mutation and a premutation in the cells tested. This definition should not be confused with the term 'somatic mosaic' which is sometimes seen in reference to the presence of more than one size of full mutation. At least fifteen percent of males and approximately six percent of females with fragile X syndrome are mosaic for the full mutation and premutation. This mosaicism is thought to be established during embryogenesis when a mother's premutation expands to a full mutation in some but not all cells. It is believed that in female fragile X carriers the mutation in the oocytes is a premutation, even if a full mutation is present in the rest of the body. Although it is theoretically possible that presence of the premutation (which produces some FMRP) in the mosaic males could improve clinical outcome, most of these individuals are affected to a similar degree as males with only a full mutation. A study in collaboration with Dr. Randi Hagerman to determine whether levels of FMRP in male mosaics correlate with clinical severity is currently in progress in our laboratory. For more details on mosaicism in fragile X syndrome, see Nolin and Brown, 1996.”

So I guess in reality she does have what is called somatic mosaic, but I was hoping she would fall in the 6% with a regular mosaic. There are lots of reasons why the Amnio test was not completely accurate, for example, the 89 could be maternal contamination, that is my repeat size, also in the amnio they look at dead skin cells that have not fully developed, so at some point maybe they were 112, but they were not done mutating yet, that was an old cell at an early stage, and when the cells finally landed in the end, it was at the much higher range.

I guess I was just feeling so lucky because she is doing so well with all of her treatment and her therapy, and to me she doesn’t seem delayed at all, when I know the reports say she is .5 – 1.5 months delayed, but that doesn’t seem like a lot, 6 weeks in the grand scheme of things, and her therapists say she is an active problem solver and learns fast so has adaptively learned 10 months skills at 7 months, but then I guess I am lucky she is receiving intervention, and at the rate of growth of a 6 month old, maybe 6 weeks is a lot, I mean the amount she does learn is 6 weeks is so much, so maybe when this same level of delay shows up when she is 7 it could equal .5-1.5 years I mean who knows… I guess I was just looking for something scientific to document how well I feel she is doing, in hopes to have a confirmation that she would always do this well, but then I hear other parents who talk about not even seeing delays until there child is 2-3 years old and then looking for answers, so maybe she is just typical and as a baby there aren’t extreme signs.

Regardless the whole thing just made me rather emotional, I didn’t realize I was sad at all at first, the poor baby is sick tonight and didn’t want to sleep and was super clingy, she wanted me to hold her most of the night, but didn’t fall asleep she just sat in my lap playing with a toy, petting her little bunny and playing with her tag. I gave her some Motrin at 9:00 and she almost fell asleep, but I guess it made her feel better because suddenly she had a lot of energy and wanted to play, so we sat on the floor with low lights and played for about 90 minutes, we had a lot of fun, she was smiling and laughing, and wanted me right next to her she was trying to stand and trying to give me a lot of kisses and kept hugging me, so I would give her big hugs and squeeze her tight and bounce her and give her tons of kisses, and then I just started crying and told her how much I loved her and gave her a super big hug, I don’t know what came over me, it was just this wave of emotion, and I couldn’t let go.

I pulled myself together and we played some more and then she started getting fussy, so at about 11:15 I gave her another bottle, and she fell asleep in my lap, I just held her for a bit and then put her to bed. At midnight she woke up crying, I was afraid to pick her up, not knowing if she was fully awake, I gave her back her pacifier, and it seemed to be regular wakefulness, not a night terror so I sang her Holly had a Little Fish song to her, I hadn’t sung it to her for a while and I just started crying again while I was singing to her. She is growing up so fast. It is 1:23 AM, and 8 months and 10 minutes ago she was born, and I can’t fathom how 8 months has gone by already, and while I am excited she is learning to walk and crawl, I don’t want her to, I want this time to last forever so I can savor every minute of it, it is going by too fast, I am starting to forget that she was ever a teeny tiny little baby, and I can only remember her how she is now, so alive and engaged and curious and active and aware, not that I don’t love that, but soon 8 more months will go by and she will be walking and talking and this time right now, will be a distant memory.

Perhaps the passing of Joel’s grandmother is also getting to me, I mean we were just in Virginia a few weeks ago, and she was doing so well, playing with holly and I was contemplating ways to convince Joel to return for her birthday and now she will never reach her 80th birthday.. I know she had a full and amazing life, and that the time we did have with her was so special, but life is so short, and it goes by so quickly. I sometimes feel like I lost 10 years of my life, not that I don’t love my life and what I have made for myself, but from college graduation to now, it all seems like such a blur, and it all seems so unimportant, “My Career” in comparison to the meaning I feel like I have in my life now, and I just wonder why I waited so long, like I was just wasting all of that time, and I know perhaps if I had had a child when I was 23 I wouldn’t have been able to handle it, and maybe not even appreciate how lucky I was and how special she was and be able to appreciate the gift that I had, because I would be worry about other things like money, and a house, and a job, and a career, so I am grateful to have the awareness of my gift, but I also feel like I missed a lot of time, I am almost 34, and with the possibility of POF, I don’t have a lot more time, and now that I have holly to mark the months and the years, I know that they will go so much faster, and I can’t let them blur together in denial that they are passing anymore. People ask me how long I have had my house or lived in the neighborhood and I will say maybe 3-4 years, but in reality it will be 6 years in March, it doesn’t seem like that long to me, even when I think back to getting the house, but then I remember that when we moved in my neighbor had just had her second baby, and she was a “baby” and now she is 6 years old and in first grade, when you look at how much time that is in the life of a child, I take a gulp and a step back and ask myself where did all that time go?

I don’t want to look back 5 years from now and feel I missed a moment of Holly’s life, development, her joys, and her tears, I want to be with her every step of the way, and I guess this furthers my resolve about quitting my job, not that I ever regretted it or had second thoughts, but truly when I think about things like doing consulting work, or something else, I feel like I am just holding onto a past, and I am not sure why, it doesn’t excite me and I don’t want to do it, perhaps I feel it is the right thing to do, for extra income, to not burn bridges, but on the other hand I just want to move on and when 3..5.. more years go by and I decide I am ready for a change in my life, I can figure things out then, because it seems like so far we are making this work, it is hard sometimes, I teeter from living like we have two incomes, to living like we are a month away from the poor house, but we are truly neither, we are happily in the middle, and I just have to learn how to live like that.

On another tangent, it almost seems wasteful the amount of money I spent before when I didn’t think about it. I mean why would anyone buy anything new that wouldn’t be needed or used in a few months when you could by it used for 1/3 of the price, the amount of stuff I have found on craigslist and the bargains of toys my mom has found for our visit to Florida, just blows me away, and I can see how sometimes there is just a specific thing you need or what, so you have to buy it new, because you can’t always be lucky and find that exact thing used, so there is a time and a place, but for real, when I am just getting fun stuff, there is nothing specific I am looking for, there are so many toys, and cloths, and items out there, that I think my child is more spoiled now when I am trying to “not” spend money on her, then when I shopped to my hearts content.

Sigh… Ok I have run out of steam.. Holly is not sleeping well, she woke up again at 1:30 wanting her pacifier, and I am just getting back from settling her in, so I better get of to be and rest myself, Ohhhhh.. I forgot I haven’t pumped yet, so I better to that, so she can have some of Momma’s milk in the morning. I am feeling better to have written all of this out.. I guess it still sometimes takes me by surprise how much I love her.

PS.. I miss you kat, and I am sorry I never have time to do stuff for you anymore.. I wish I could do it all, but I can't.