The bottom line
Hello everyone:So I obviously am not keeping up with this all like I had wanted to , but honestly it's hard to go over every messy detail ... It became something I felt I had to do which wasn't what I wanted . So I'm going to start at this again as a form of daily reflection . But first I feel like I should just come out and tell everyone what's going on with Sophia . At least what is going on with her now. I think it will make it easier on me if I'm not building up to the big reveal ... And as part of the new year I am trying to be more upfront , even if it makes other people uncomfortable. I can't keep dulling down what's going on just so I can feel like I fit in . Because I am a square peg in a crowd of round holes. Trying to force myself to fit in is only making it painfully obvious that I in fact don't fit in at all,Ok so to get right to it, after an absolutely awful experience getting MRI of her brain early this year due to Sophia lack of head growth , I was told to wait about two weeks for results. We were looking to see if she had any major issues like tumors or cancer preventing growth ... I didn't even fathom possibilities beyond that... I got the call from her neurologist late on a Friday evening. I was home with Luis and Sophia and her doctor asked me if I was home , that should have been my first clue that something really bad was coming . And that's when my whole world stopped spinning. He said word for word I'll never forget it " upon review of the MRI photographs we have concluded that Sophia's cerebellum has been drastically undersized since birth , and that her pons is also under developed, and then he went Charlie Brown on me whamp whamp whamp whamp .... I literally couldn't process another single word .. I had my first and only out of body experience that day... I was watching myself from another perspective .. I clued back in when he said do you have any questions ? All I could say was I'll make and appointment and hung up on him before the wailing started.. I cried from a deep dark place within myself that I didn't know existed.. I thought my child was a small girl with hearing problems ... Now your telling me I gave birth to a child who is missing a significant part of her brain ?!?!?!?!?! I screamed bloody murder from pure hate and anger and collapsed out of my chair to the ground and that's when Luis came running in. I couldn't stop crying long enough to catch my breath let alone talk .. When I did tell him what I was told her sat next to me on the floor of the living room , silently processing the news that our child would never be normal . This was the day my life changed , having a child with hearing aids is a big deal.. Having a child with neurological impairment is a whole new game that I knew nothing about ...When I finally did make an appointment he didn't have anything to say .. Why her ? They don't know yet .... Why no one noticed earlier....? Because I didn't seek neurological input ... What now ??? Wait and see... Literally nothing I was asking he had anything helpful to say ..I switched to a doctor or who specializes in neurological disorders of genetic origin ... Se was trained and worked in Boston children's for ten years ... She orders another MRI in 6 moths to see if there is any growth changes ...There were no changes ......Despite me working with her at home for hours a day , taking her to 5 different therapists in a week , giving her all of me , all of my love, all of the medical help available, all the right equipment , doing all the right things , nothing helped , nothing changed.That right there was a blow to my spirit in such an amazing way that I'm still working thru it.. I constantly feel like I'm falling short of what it's going to take...But the lack of growth in already significantly undersized areasin conjunction with her other various diagnoses of failure to thrive , microcephaly, GERD, sensory processing disorder and fine and gross motor delays all came out to point to one thing. ....An extremely rare degenerative neurogenetic disease called Pontocerabellar hypoplasia.What is pontocerebellar hypoplasia?Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. People with these conditions have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals from the cerebellum to the rest of the brain.Researchers have described six forms of pontocerebellar hypoplasia. These forms have somewhat different signs and symptoms and different genetic causes. All forms of this condition are characterized by abnormal brain development, problems with movement, delayed development, and intellectual disability. The signs and symptoms are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood.~from genetics home reference website~So yeah , I don't think I need to break down in some epically drawn out way how fucking hard core hearing news like that is ... It rocked me, and continues to rock me to the core eveytime I look at her.So there it is , the big news, the reason for the over dramatic facebook posts , the reason I'm so sickeningly positive with my daily quotes and blurbs ... Because it's the only way I can get up and face the day. I tuck myself in every night wondering how we are doing it. If I did enough, if I should just go look up that one last thing now that I have 5 min to myself that I don't feel guilty takingWe sent out a blood sample for a whole exome sequencing test .. It's the cutting edge test , the newest best thing out .. It will tell me for sure if Sophia has this disease. It's been 4 months since I sent the sample to Yale new haven children's hospital ... I should get the news any day now... I'm trying to hope for the best and prepare to have my heart ripped out of my chest. ... It's a funny thing to wait to your fate.. It gives you the chance to decide genuinely how you could handle both situations. How I feel changes by the minuet. But I know I'll feel better now that this is out there.. I may lose her early. I don't think I'm a strong enough human to handle that. But it's out of my hands. I was given this life because I am strong enough to live it. And I will move forward regardless of the results of this test. Because my love for her knows no end. Even if every beautiful day I spend loving her will equal one dark awful day I may have to face without her. I will LIVE LIFE with her. Not cope with having her . So if you read this far . Thank you. I hope you have a blessed and healthy new year. This was quick and dirty compared to the post I had planned. But I just can't face 2014 unless I've done this. I need to put it to god . Let him hold this issue , it's to big for my feeble hands. I walk in the light and love of my creator, although I am angry and I have days that I don't think I can do it , I know I will always find strength in my love for her. So with that said , I'm ready for the results. Even if I don't know what I'm going to do, I'm no longer afraid. 2014 is the year That I get my head right . This blog will be a large part of that.Thank youBless youKrystal
