Friday, May 1, 2015
Early this month we went to see a geneticists, with Ali being behind, and nonverbal, and having the problems with her QT's being long. Well Wednesday I got a call from the doctor and she asked me if I knew that Ali had a genetic test done back in 2011, I told her that I did but never heard anything back from it so I believed everything to be ok. Well that is not the case, it turns out that Ali has Turners Syndrome and that the hospital knew this but never sent papers to anyone, not me, not her cardiologist, not her pediatrician. So for the last 3 years my daughter has not been getting the right care.
Thursday morning her cardiologist called and told me how they found out this news, on top of being in shock himself. It turns out that both hospitals use the same system and when he sent his paper work over to the geneticist the other hospitals paper work was sent. When he heard from the genetics clinic he went through his paper work and when he didnt see anything there he searched the other one and thats where it was.
So now that we have a reason for all of Ali's problems we can treat them correctly. We will be seeing a endocrinologist and a orthopedic. We go back to the Genetic clinic in June and will be going over everything then.
Feeling on all of this, I am happy to have a reasoning for all of this, I am sad that my daughter will never be able to have children herself, and I am angry that we were never told anything about this. They should have told us, but instead we get a shock like we did when she was in CHF.
Sunday, February 8, 2015
Back in the beginning of December Ali had her right ear tube come out; and not even a month goes by and she has an ear infection in it. The infection was so bad that she ended up perforating her ear drum and had drainage with it. Two weeks after that she she had both tubes out and was doing good. Last Monday she was screaming through out the night. When she was going to bed she cried for two hours straight and then woke out two hours after falling asleep screaming all over again. Tuesday her father took her to the doctors and it turns out that she perforated her right ear drum again and had yet another ear infection. This makes 2 in a 3 month period. So now we need to figure out what needs to be done. The most likely thing is going to be tubes again. Something that I never noticed till after her ear drum popped was her behavior and her sleeping. Two weeks proir to the ear infection Ali was having a really hard time sleeping at night. She was getting up at all hours of the night and staying up for very long periods of the night. I never once thought that it could be the fluid that was causing all her sleeping problems and now I am wondering if this has been part of her problem from the very beginning? When it comes to her behavior it was her teacher that mentioned that was why she was having behavior issues at school and at home. I noticed that she was acting a little bit different prior and after her ear popped she became the happy go lucky little girl she always has been. The major concern we are having now is her falling behind on her speech. She has been making great strides when it comes to speech and now that she is having more infections, both her teacher and I are worried that this is going to damper her speech. So the 17th we go for a follow up and we are going to talk about our options. Her pediatrician said something about either going back to the ENT or going back to audiology and seeing what they have to say.
We are also all set in going and getting gentic testing done in April. I have been beating myself up about feeling like I was going behind our cardiologist, but if there is a chance that they may be able to explain some of Ali's problems it is so worth it. So look for that post at a later date.
As for myself I am into my 4 week of school and I feel very good about it. I have it in my mind that I am going to seceded this time and not mess up like that last time I tried to go to college. So I really dont have a life outside of my daughter, school, and working part time lol. But it is going to be so worth it in the long run. So this is my apologie in advance that I really may be absent from the blog.
Sunday, November 16, 2014
ALI COMMUNICATED TO US!!!!
Well she communicates with us by saying please and thank you or pointing at things. But last night she actually "told us" what she wanted. She has these pie pieces that go with a tea pot her second cousin got her for her birthday. For the longest time she has been missing one piece to the pie set. Well she grabbed her dads hand and pulled him to the couch and was signing "eat" while trying to look under the couch. Well I got up and looked under the couch and there was the missing pie piece. When I give it to her after I got it out she started to "eat" the piece. It wasnt till after I sat back down did it click that she had actually communicated with us. She didn't know how to say pie piece or whatever, so she told us the only way she could that "food" was under there.
I was so happy that I had to call her preschool teacher on her day off and tell her what Ali did. I have been going crazy thinking about it and I just cant stop feeling pride in my little girl.
Friday, November 14, 2014
|watching while we did the EKG|
I know I have said this before, but I love this office. Everyone is nice and laid back. They remember everyone also. Heather, the lady who had done Ali's very first echo had to come in and see her because she was finding it hard to believe that Ali was 3 years old. Dr. Loker gave his phone to Ali so that he was able to listen to her heart and was telling me about different apps for my phone that I could download for her.
|Playing with her Cardiologist phone|
Saturday, November 8, 2014
So last month my baby girl turned 3. She is getting bigger and bigger everyday. She is still not talking but she is starting to do better with telling us her wants using different means. We just had parent teacher conferences and everyone is happy with the progress that she has made, and she has come a along way from the first week of school.
As of right now she is 30 lbs and is around 2 1/2 feet long. Everything went good with the pediatrician and they are happy with where she is right not. A week after her wellness check we went to her ENT and her right tube has come out and the left tube is still in place. Hopefully we dont go back to what happened before she had the tubes in. We haven't seen the cardiologist since Apirl, but do to behavioral issues that have been going on this last week we will be going to see him next week.
All this last week Alyzea has been very cranky. She was waking up at all hours of the night and crying for atleast an hour before she would relax. Sometimes we would have to give her Tylenol and then she would be fine. She was also having low grade fevers off and on through out the weekend. She went to school one day and out of the blue she started screaming and wanted to go home. Nothing the teachers did made her happy and they even had other teachers coming out of their classrooms trying to help calm her down. Thats what it was like at home also, she had a couple of days where she would be laughing running around the house then out of the blue she start crying and was just unhappy. We thought that maybe it was her teeth but when I looked in her mouth everything looked ok. So even though I didnt think it was anything to do with her heart I called her cardiologist to see if there was anything they could think it was. They said that they didnt believe it was anything that related to her heart but that since she had significant aortic stenosis they would be happy to take a look and make sure. After the weekend when she was fighting the fevers we took her to the pedis office and they found nothing wrong with her. So who knows what is going on with her, and with her being non verbal it is harder to find out what is wrong.
On too non Aly news. With the holidays coming I started working again so that we will be able to spoil our families with gifts. I like cause I am only working part time, so I can still spend time with my family. Come January I will be also going back to school. It has been something that has been on my mind lately and I just believe it is time to finish this chapter in my life. I think that I will be going back to for a two year degree in early childhood education with some training in special education. I have always loved children and I think that this is the best thing for me.
As I said before, I now have my laptop back so I will be able to post some more about Aly and the family.
Saturday, September 6, 2014
Ok so whats been going on??
Ali has been doing SOOOO good with her speech and language. She has learned some new signs. On top of the all done, please, and more. She has learned eat, thank you, and tickle. I love it when I am sitting on the couch and she comes up to me with the biggest smile on her face and signs for tickle. She has also been doing good on her communication skills, example: I was painting my nails one night and she came up to me and signed please and then looked down at her feet. Something that else I never noticed till just recently, she never made a sound when she was unhappy. Now she does it all the time lol. She still doesnt say no or shake her head at anything, but she has started to grunt or scream her displeasure at things.
She has started school the 2nd of this month. She goes to school Monday thru Thursday, from 12:00 to 3:15. The first day we had some problems with the school bus but after that things have been good. Granted its only been 3 days but she has taken to getting on the bus and off the bus without any problems. Both her teacher and the aide have told me that she is such a firecracker and yet such a sweetheart. It turns out that Ali is the only non verbal child in her class. Everyone believes that by the end of the school year she will be talking alot more since she is around other children that talk.
A few days ago I signed Ali up for a running buddy from a group called I run for Micheal. Its a neat group that assigns a running to a child or adult that is disabled and are not able to run themselves. The disabled person talks to the runner and gives them the encouragement and someone to run for. Now Ali has no restrictions and is asymptomatic but I just like the fact that we can give someone else something to push for and that Ali can learn from someone. Then you also have the fact that at anytime something could change and Ali may end up on restrictions and wont be able to enjoy running or anything like that. It sounds bad to put it like that and I NEVER want anything to happened to my baby girl, but I look at things from the stand point that I almost lost my daughter at such a young age that you never know whats going to happen. I dont let the what if's run my life but I keep them close and keep myself prepared for anything.
The only other news I have is that my sister gave birth to her second baby girl on Friday. Her name is Talia Rose and she was 7 lbs 10 oz and 20 1/2 inches long.
Tuesday, June 10, 2014
So Ali has been blooming with her speech! She has gone from a 4 word vocabulary to a 15 word vocabulary. The goals that her speech therapist has set for her she is already reaching. She has said on multiple times the new speech therapist is going to have to set new goals for the school year. I am starting to believe that me staying home was truely the best decision I have ever made.
On a different note, we saw the sleep specialist and they checked her ferritin levels. It tuens out that if feritin levels are low they can cause issues sleeping and can cause someone to twitch and jerk in their sleep. Well Ali's levels were 19.7, they want them to be 50 or 100. So we have started her on iron supplements and we go back in 2 months and see were her levels are at then.