Oh my gosh where did November go? I am sorry blog, that I have totally neglected you.
We had a bit of a rough go of it when the school called me and said I should pick Katie up because she was being too quiet (not her usual "screaming with delight" kind of girl) and the fact that she kept arching her back, constantly. So I picked her up and took her right to the pediatrician. He wasn't really sure what was going on, thought it might be constipation but checked her out and it didn't seem like that was it. He said to take her to Phoenix Children's Emergency Room if she got worse or not any better by morning. I also noticed that along with arching her back (whether standing, or in the high chair) she also seemed to have restless legs. Having worked at Mayo Clinic for 10 years, I was worried because I remembered that restless leg syndrome was a neurological issue, which is scary since Katie has those issues anyway.
So in the morning she was still doing these things, although never acting as if she was in any pain, and not babbling or making any sounds. I started crying, thinking she must need an MRI to see what is going on in her head that is making her arch her back and move her feet so much. I was so worried. I had to have Paul call Katie in sick to school because I was so upset.
We got to the ER, which was a WONDERFUL place, and they took care of her right away. I was surprised when they wanted to do an x-ray of her stomach, but I thought I'd wait to ask about doing a head MRI. Crazy enough, her x-ray showed extreme constipation - they showed us the x-ray and it seemed to me that it went from her neck all the way down, well, however high the colon goes anyway. So they did an enema ( I won't go into those details) and then Katie was on a lot of Miralax for several days (she takes it anyway, but we have since upped the dose to 1 capful a day) and one crushed up Dulcolax (supposed to push it all out once the Miralax has softened it), which worked great! I have never changed so many sheets in my life!
Katie has always had constipation issues, it seems to go hand in hand with low tone. Since this whole episode, Katie has been doing great, and if she gets irregular I just give her an extra capful of Miralax later in the day and then WATCHOUT!
Read our story on the ViaCord website - click on the picture above
welcome to my blog!
Our daughter Katie, underwent a cord blood transfusion at Duke Medical Center in early January 2010. It was her own (umbilical) cord blood which we had saved at birth through a company called ViaCord. Not really thinking we would ever have a need for it, we were absolutely THRILLED at the thought that her own cord blood might be able to change her life, and help her to progress faster.
We are very hopeful that this procedure will help Katie to progress faster in overcoming her many physical delays. Mentally she seems to be fine, able to understand, and tries to communicate, but her physical delays hold her back.
What is expected is that the stem cells in the cord blood will repair or replace any damaged cells, or form new connections anywhere in her body that needs it. We were told not to expect much for at least 6 months - that most parents report a jumpstart in therapies at about that time. However, there are those families I have seen on youtube or the news who have incredible results - some even right away, and I can only be hopeful that we will have a similar experience. After all, I am her mom!
I believe that with the help of Katie's therapists, caregivers, and family, that I will be able to objectively sort out any milestones or changes that may be due to the stem cell transfusion, and that is what this blog is all about!
04/20/16 Katie has been diagnosed with a very rare gene mutation on the gene GRIK2. TGen is who found this gene mutation and put us in touch with a scientist at Northwestern University who is doing further research on Katie, specifically. So awesome!
Katie was diagnosed with hypotonia at age 1, which is basically weak muscles, not really a true "diagnosis". We have no idea why she has this, but it delays her in many areas such as crawling, sitting, walking, talking, and fine motor skills. Katie is now 10 years old and she started walking about 4 years ago but still unsteady. Her coordination and balance are something we are constantly working on.
She did wear glasses from ages 2-4 and then her vision improved and she doesn't need them anymore, which is so great! Getting glasses on her was not easy - had to come from behind and put them over her head that way. It's nice not to have to worry about getting the glasses on her any more!
Katie can totally understand what you say, nods her head for "yes", has a few signs (for "more" and "me") but still is not able to talk much at all. Maybe a few words.
Katie is a work in progress!