Today Keelie and I went to physical therapy and swallow therapy. Josh took Cayden and Ryland to the grocery store. She had a clingy session in physical therapy. She wanted me close. It took her a little while to warm up. She is still not able to jump but she is trying. And I believe in her mind that she thinks she is jumping. We then went to swallow therapy next. The therapist was pleased with some of the progress she had made. She had a couple of incidences this past week. One in particular that she did well with was mashed potatoes. Josh and I both just knew she was going to throw up but she just gagged a few times and worked through it. That is progress. She would normally pocket it and not eat any more. Pocketing is when she puts a food in her mouth she doesn't recognize or like and she puts it in her cheeks. She can't spit due to weakness in her mouth so Josh or I end up finger sweeping her mouth. The therapist wants me to keep a journal of her diet for one week. She wants us to try one new item and maybe try some pediasure. Keelie eats like a bird so she really needs something extra. We are going to try ravioli this week. She wants that to be our new food to try. We shall see how that goes. I bet she doesn't eat it.
We met Josh and the other children at home. We ate pizza for lunch and put them down for a nap. We had a pretty good rest of the day.
Thursday, December 22, 2011
The results are in...
So today wee find out the results of the MRI. Hoping for some good news. So I got up this morning to take Cayden to her last day of school before Christmas break starts. The whole family was going. I put the kids straight to bed when we got in last night so I had to give cayden a bath before I took her to school. Keelie bless her little sweet heart never even woke up when we got home so she slept in her clothes. We dropped Cayden off and went to eat a little breakfast. Then Josh dropped me off at Kids Therapy Spot so I could give the therapist the prescription Dr. McVicar signed for Keelie's braces. We wasted a little bit of time in town. We went to walmart to look for a case for my iPad 2 my husband gave me last night for Christmas. So excited about this. We picked Cayden up at 10:30 and headed home. I called the doctor's office as soon as we got home.
It took them about 3 hours but they did call back. Her MRI showed that nothing had changed. So the nerves were still lacking the myelin sheath but at least it had not gotten worse. I was hoping for better but like I said at least it wasn't worse.
The speech therapist came at 3:00. Today is her last day with us then we get a new therapist starting January. It was sad to see her go. We will miss her and we wish her the best on her new journey with a baby on the way.
It took them about 3 hours but they did call back. Her MRI showed that nothing had changed. So the nerves were still lacking the myelin sheath but at least it had not gotten worse. I was hoping for better but like I said at least it wasn't worse.
The speech therapist came at 3:00. Today is her last day with us then we get a new therapist starting January. It was sad to see her go. We will miss her and we wish her the best on her new journey with a baby on the way.
Friday, December 16, 2011
MRI day
Today is the day. Yuck..... We got up around 6:45. We decided to go ahead and pack everything up so we wouldn't have to load it up later. Cayden and Ryland were staying with the ladies today(Grana, Aunt Sandra, and Aunt Barbara.). Just thought that would be easier. We were hoping for a short day but you just never know. Keelie kept asking for her milk but she couldn't have anything. We got to Lebonheur around 8:45. She was put in a holding room pretty quickly but the wait was horrible. They did not come get her until 11:48. Ugh!!! The nurse came in several times and apologized. I told her Keelie was very hungry. In fact, Keelie got weak and ended up falling asleep in her Daddy's lap. Josh and I had to go to a waiting room and we were there for 1 hour before they came to get us. Longest hour of my life. We went to the recovery room where she had to stay for 15 minutes just to make sure she was going to be ok. Whew....glad that's over but now nervous for the results. Let's eat. We went to the cafeteria and ate. We decided to stay close and go to Dr. McVicar's office early hoping to see her early and not be so late getting home. Well that didn't work. Actually it did a little but not very well. We luckily were the first ones there so we were the first ones to see her. Unfortunately we didn't see her until 3:15. We got there a little before 2:00 but the appointment wasn't until 3:10. We didn't leave until a little after 4:00. I can't imagine what time we would have gotten out of there if we had gotten there at our appointment time.
Dr. McVicar looked at the MRI and she said the myelin sheath on her nerves in the frontal lobe still looked like it was missing and the space between her subdural spaces of her brain were larger than they were supposed to be. She couldn't tell us if it had stayed the same, gotten worse, or gotten better because she couldn't compare the MRI from July to this one and the report from today's MRI had not been read yet. So another waiting game. She did seem pleased with her speech. And she is talking more. She did recognize that her joints have a good bit of laxity in them. She did sign the letter for the braces for her legs and she wrote a prescription for them so hopefully the insurance company will pay for them. Lastly, she was very thankful and excited we had gotten Keelie in a research study. She gathered lots of paperwork for me to take to Kentucky. Now we head home. We will follow up in 6 months.
Dr. McVicar looked at the MRI and she said the myelin sheath on her nerves in the frontal lobe still looked like it was missing and the space between her subdural spaces of her brain were larger than they were supposed to be. She couldn't tell us if it had stayed the same, gotten worse, or gotten better because she couldn't compare the MRI from July to this one and the report from today's MRI had not been read yet. So another waiting game. She did seem pleased with her speech. And she is talking more. She did recognize that her joints have a good bit of laxity in them. She did sign the letter for the braces for her legs and she wrote a prescription for them so hopefully the insurance company will pay for them. Lastly, she was very thankful and excited we had gotten Keelie in a research study. She gathered lots of paperwork for me to take to Kentucky. Now we head home. We will follow up in 6 months.
Therapy day
Today is swallowing therapy and physical therapy. I was up and going at 5:45 am. I had to make hot chocolate with marshmallows for cayden's class. They were having a Polar Express theme day. She wore her pajamas to school. Josh and Keelie went on to town and dropped cayden off at school while Ryland and I gathered things for cayden's class. We got there and helped get all her classmates some hot chocolate then Keelie and I went to walmart to waste some time before therapy. We got to therapy about 10:15 and left around 12:00. Nowwe are off to Memphis. We stay at my Aunt Sandra's house when we go. Thankfully she cooked supper for us and we didn't have to go out to eat. My mom and her other sister, Barbara, came up earlier in the day to do some shopping so there was a houseful. Now we nervously wait for tomorrow.
Bloodwork day
Monday, December 12, 2011 we had to get the blood drawn. Lots of phone time trying to find somebody who would do this very simple task. I called the pediatric clinic they said no and to call the hospital. So I called OCH and they said no and to call the local pediatric clinic that we use. So what now. I had two ideas. I texted a friend who might be able to help and I called Richard, the first steps coordinator. Richard got me in with the clinic but they said to come in Wednesday. Two problems with that. One being that we would be in Memphis that day and two the blood had to be drawn and shipped out the same day. Once it was drawn I had 24 hours to get it to the lab. Yikes..... So thanks to my wonderful friends' sister and her work staff. They were able to draw the blood for me, Josh, and Keelie. They were all nervous about Keelie but they got it. I hated for her to have to be stuck but I have to remember it is for her own good. After that we were able to run it to the fedex store and get it shipped out. Thank goodness that is done. Now just hoping it gets there safe and sound.
Thursday, December 15, 2011
A diagnosis December 9, 2011
Today I got two very important phone calls. The first being a call from the genetist, Dr. Ward. She gave me a link to read that explains Keelie's disorder. It is a group called "Unique" that focuses on rare chromosome disorders. They offer information and support. So she told me to go to www.rarechromo.org and click on leaflets then scroll down to her chromosome number and read up on it. It is very informative and I am relieved to finally have a few answers as to what is going on with this sweet baby girl of mine. She did inform me that keelie's diagnosis is 7q11.23 duplication syndrome. A shortened version is dup7 syndrome.
The second phone call I received was from a research Dr. who I had emailed about Keelie. I had just happened to run across her information when i was researching keelie's syndrome. I thought this research was over. So I asked her if she had any information she could offer me to help with Keelie. she emailed me back almost immediately and asked for my phone number that the research was ongoing and she wanted to talk to me. I emailed her back and within 10 minutes she called me. We had an in depth conversation about Keelie and the treatments she was receiving now. She wants us to join her research and she wants us in Louisville, Kentucky January 3. But we had to rush to get everything ready. She wanted bloodwork from me, Josh and Keelie. So she needed an answer to now so she could get the blood kit in the mail. We needed to have the blood drawn Monday and shipped out Monday. Whew......life just got a little crazier. But I must say, I am pretty excited about the research. Not only for Keelie but also for others who may be affected. So I talked to the First Steps coordinator, Richard, and he got all the necessary paperwork for me to take to the research. Very helpful. Now to get the necessary paperwork from Lebonheur including MRI's, xrays, and upper gi/small bowel study. Oh, not to forget the EEG as well. So much to gather and get done. So time to get busy......ha ha.
The second phone call I received was from a research Dr. who I had emailed about Keelie. I had just happened to run across her information when i was researching keelie's syndrome. I thought this research was over. So I asked her if she had any information she could offer me to help with Keelie. she emailed me back almost immediately and asked for my phone number that the research was ongoing and she wanted to talk to me. I emailed her back and within 10 minutes she called me. We had an in depth conversation about Keelie and the treatments she was receiving now. She wants us to join her research and she wants us in Louisville, Kentucky January 3. But we had to rush to get everything ready. She wanted bloodwork from me, Josh and Keelie. So she needed an answer to now so she could get the blood kit in the mail. We needed to have the blood drawn Monday and shipped out Monday. Whew......life just got a little crazier. But I must say, I am pretty excited about the research. Not only for Keelie but also for others who may be affected. So I talked to the First Steps coordinator, Richard, and he got all the necessary paperwork for me to take to the research. Very helpful. Now to get the necessary paperwork from Lebonheur including MRI's, xrays, and upper gi/small bowel study. Oh, not to forget the EEG as well. So much to gather and get done. So time to get busy......ha ha.
The next few weeks
So over the next few weeks things have gone well with Keelie. She goes to physical therapy every Tuesday and speech therapy every Thursday. I called Dr. Ward several times trying to get answers from her. The genetics counselor is who I would normally talk to and she always seemed to make excuses as to why I didn't have any answers from Dr. Ward. I did talk to Dr. Ward once and she assured me the letter would be done soon. She did also tell me this is very rare and she was going to have to research it. I just didn't think it would take 2 months.
The physical therapist thinks SMO braces for Keelie's ankles would help with her falling all the time. We had quite a struggle getting the prescription back from Dr. McVicar but after a month of trying we finally got it signed. Now the issue is to get the predetermination letter signed so we can find out if the insurance company is going to pay for the braces. They are very expensive so I needed to know if insurance was going to pay before we bought them. Since we go to the doctor next week I will just get the predetermination letter signed then.
I've almost gotten this blog caught up. There could be a few things left out but I believe it is pretty close.
The physical therapist thinks SMO braces for Keelie's ankles would help with her falling all the time. We had quite a struggle getting the prescription back from Dr. McVicar but after a month of trying we finally got it signed. Now the issue is to get the predetermination letter signed so we can find out if the insurance company is going to pay for the braces. They are very expensive so I needed to know if insurance was going to pay before we bought them. Since we go to the doctor next week I will just get the predetermination letter signed then.
I've almost gotten this blog caught up. There could be a few things left out but I believe it is pretty close.
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