So on Wednesday after our session with Sally we decided to get Holly’s X-rays done. I wanted to have them to bring to Dr. Hagerman’s office, but I hadn’t been able to go earlier because there was an issue with the Insurance Authorization. When I arrived it was a nightmare, we spend over 30 minutes in the parking lot looking for a spot, at one point I left the lot and came back in, because the first 20 minutes are free and I wanted to reset my time. I was worried we wouldn’t make it because Radiology closed at 4:00 to walk in patients. At first we had to go to registration which was different then when we had the ultrasound done. We spend a lot of time in the waiting room there. And when we finally went to registration there was an issue with the insurance because they had two Holly’s listed in our plan, one male, one female, and with the birthday of 01/02/2002. I was able to get it all worked out and they sent us up to Diagnostic Imaging.
When I got there we hit Hurdle number two. Hey didn’t have the referral from Holly’s pediatrician on file. How something like this happens I am not sure, since it was faxed twice, the first time over 6 weeks ago, and then the second time the previous Friday. Thankfully they were able to call her and she faxed it yet a third time. This of course meant more time in the waiting room, but since we were in the queue it was ok that 4:00 PM came and went. Holly was very active and didn’t want to stay in her stroller. Since she would have to stay still for the X-Ray I decided to let her run around the waiting room. Since it was a children’s hospital, it was pretty kid friendly. There was a book case with children’s stories that she preceded to remove one by one, and a large fish tank. She cruised back and forth along several rows of chairs, and when other kids came in to wait she crawled over to say hi.
After a while she got bored with the waiting room and headed out to the hall and tried to escape. The staff thought she was adorable and quite amusing, so I let her wander off down the hall for a while, until she got into something precarious, like trying to sit in front of a door or something and then I would bring her back to the waiting room and reset. There was this one little boy who was a few months younger then Holly but he was like 4 inches taller, huge in comparison, and he was very friendly, in fact he followed her around, he wanted to touch her face and pet her hair, and now I am remembering this is actually where she got her hair pulled. His mom was horrified, but I told her it was ok, and that Holly is normally the one scratching faces and pulling hair, so I know how she feels, and she is tough, and can take it. I picked her up and comforted her and then she was ready to play again, with the little boy even.
Finally they called us back, and I changed Holly’s Diaper so she would be more comfortable and the technician got everything ready. Originally I was told that I would wear a vest and could stand next to her but he would not let me. So I had to stand about 10 feet away behind a screen where the other technician was. It was in the same room, and very close by. So the X-Ray consisted of 4-5 shots. She simply had to lie down on the table and all was well. It was a little cold and since the films were under her she couldn’t lie on a blanket and had to have her top off. She was fine for the first two shots, but then she got a little wiggly and tried to pull her legs up, he pulled them back down, but then she tried to hold her ears, and he had to hold her arms down, so then she tried to do crunches and sit up, and he had to hold her forehead down. All this restraint made her very mad. The forth one had to be on her side and she couldn’t curl up so by that time she was crying. But this all took less than 2-5 minutes and I was quickly able to go to her and pick her up and as soon as she was able to sit up she stopped crying and was fine.
It was funny, I am sure the technician has done this 1000 times but between each shot he had to change the films and was not holding her and the table is rather narrow, so my worst fear was that she would flip over and fall right off. More than a few times I jumped forward to run to her aid as she began to wiggle when he wasn’t holding on to her, but then he would put his hand on her and she would settle and not actually turn and was fine. So once we were done there was a third waiting room we had to sit in while we waited to make sure the pictures came out good. They did not, and he had to do the last shot again. This time they decided to do it differently, in a way where Holly was to lay her head in a foam brace type thing and sit raised on a board. As soon as we went back into the room she got upset, realizing that I would be putting her down again. But it went quick. I held her while they set it up, and laid her down into the foam and though she didn’t like it, it only took about 60 seconds and we were done.
They noticed and made me take off Holly's Earrings during the second set of XRays. I have never done thins before, and actually needed to have the guy help me. I held Holly's head and had him take them off, I didn't have a strong enough grip or pull to get them to open. I stuck them in my pocket and when we got home cleaned her ears and the earring with the piercing solution and put them back in while she was taking her nap.
I was able to get a copy of the X-rays on a CD which is cool. It comes with this special X-ray viewer, and the pictures are not in a normal format. So when we got home I was able to look at them, not that I knew what I was looking for. One really cool thing was that we could see holly’s Molars, and boy it sure looks like they are ready t o start coming in. We really couldn’t tell what else we were looking at, but on Thursday our Pediatrician met us at UC Davis so she could meet Dr. Hagerman, and she said she spoke with the Radiologist, or X-ray Person, and they told her it all looked great, and Holly had no issues in her Neck, shoulder’s or spine. SO anything going on is definitely a tone issue and not related to any possible skeletal problems. I am looking forward to sharing the X-rays with Sally, I am sure she will find them interesting, and maybe even helpful.
UC Davis was a long day. We got up around 8:00 so we could leave around 9:00 to be there by 11:00. Thankfully Holly slept most of the way up there in the car, but that meant she was awake by 11:00 and would be ready for her afternoon nap sooner than usual. Dr. Hagerman was running late so it was almost 11:30 before we got in to see her. I didn’t mind much though because there were a lot of fun toys in the waiting room for Holly to play with and it was Dr. Jones first time really getting an opportunity to engage with her in a playful setting, and watch her go. She was amazed with her cruising and crawling and fine motor skills, and said that if we didn’t have a Diagnosis at birth she would have missed it, and not known Holly had a genetic condition, or noticed any significant delays that were cause for Alarm. But we talked about how it is so hard to know what Holly might have been like in that situation, because I truly believe she is doing as well as she is because of the early intervention services she is receiving, and I credit her therapist for her amazing progress. Well also her problem solving attitude, and determination.
Once we did get in to see Dr. Hagerman we met a Colleague of hers from the Fragile X Center in Chicago Affiliated with Rush University, and a Colleague from Korea. There was a 4th person Observing but I forget exactly where he was from, we met him last time we were there so he is doing an extended visit, unlike the Woman from Rush, who was just there for the Day. We talked about Holly’s Development and there were a few things I had questions about. I think I am being a paranoid, hypochondriac, over protective mother, but I somehow got it in my head that she might have a Mitral Heart Valve problem, which is somewhat common in Fragile X. I came to this fear because the Internet has too much information, and I was looking up sweating while sleeping in babies, trying to see if Holly’s profuse sweating was related to anything, or maybe had something to do with Self Regulation, and her fighting sleep. I found that sweating in your sleep could be a sign of a heart problem. I knew there were issues with Fragile X and the Mitral Valve so I looked it up, intending to rule it out. Then I read that it can cause breathing issue and rapid heart rates. Well just recently Holly has been gasping for air, catching her breath, when she is active. It is a little off putting, and while it is some days rare for her to do it at all other days she will gasp several times making her circuit across the room. I had chocked it up to having a stuffy nose and mouth breathing, and was keeping an eye on it. But once I read about breathing related to the Mitral Valve I worried.
Well, Dr. Hagerman, and Jones were very sympathetic and patient with me and both carefully listened to Holly’s heart and said that if there were any issues they would be able to hear it, and then follow up with an EKG, but this typically didn’t develop until someone was much older, and that her heart has always sounded amazingly strong. They reassured me her heart rate was normal, and I listened, and it seemed fast to me, but they said that is normal for a baby. Then later she did the gasping thing, and I jumped, “See, did you hear that?” and they had. They checked her out, but said that it was a common language development thing. She is playing with her breaths, learning how it works, and it isn’t very different then doing something like Raspberries. Her lung and breathing sounded fine otherwise and that I had nothing to worry about. I now know I was completely over reacting, but they said no, it is good to bring up concerns like that, because you never know when it could be something serious, and they were happy I was so observant and attentive, but that in this case she was actually fine.
We also discussed the Folic Acid therapy and I explained how I had not started it because of the way the pharmacy gave me vials for an IV with Syringes. She said that was crazy and that her Pharmacy made up a solution, and they could give me a 3 month supply and it was only like 20$ without even using insurance. So she wrote me a new prescription. She said if there was a compounding pharmacy locally, they could call her pharmacy for the formula when I needed the refill, but I should give it to Holly for at least 3 months. The solution is actually only good for 100 days, and needs to be kept away from light, so we plan on starting it today.
While we were there we let Holly crawl and cruise around the room, it is hard t contain her in one place especially in top of a table and while she was pulling up on the table leg, once up she let go and sat her self down. Joel said she stood for a few seconds. He pat me in the arm and asked if I had seen it, or if anyone had. I missed it, but the Specialist from Rush nodded her head, she had been impressed and saw it too.
We also discussed Holly’s Speech Therapy issues, and the value of having early speech therapy. She says her therapists start working with babies at 6 months old, and that in her report she will recommend that Holly receive Speech therapy two times a week. I am hoping her report goes a long way to get the regional center to approve services immediately. That said, she thought we were doing an amazing job working with her, and although she isn’t make as many sounds as she could be she was very vocal and seems to want to communicate which is half the battle. She looked in her ears and said they look fine but recommended we see an audiologist to test her hearings and do a more thorough exam to make sure there is no fluid, because ears problems are so prevalent with Fragile X kids, we want to be proactive about it. I had wanted to do this anyways, so Dr. Jones said she would do the referral in two weeks when we come in for our 1 year visit. Also she recommended doing an eye exam before she is 2. She is not currently on our vision insurance, so I need to find out if the regular insurance covers the exam, and just not the cost of glasses, which I am sure she won’t need, at least not now.
This was basically the Visit with Dr. Hagerman. It ran long, and our next appointment was at 1:00, so we only had 15 minutes for lunch, but Vivien the coordinator found us and told us we could take until 1:30, so we were happy to get the break. I was a little worried about Holly because she had been up since 10:45 and was starting to seem a little bit sleepy. We went down stairs after lunch and started the eye tracking experiments. We got through 3 videos before Holly was fussy and didn’t want to sit still anymore. We had actually brought our sandwiches downstairs so Holly could play a little before I was going to make her sit still, but she was ready to wiggle some more. So we changed her and let her play for a while and made her a bottle.
She basically whined through the next three videos but did make it through them. We took a break after number 4, because though she watched and paid attention she wined the whole time. So we took another break and worked on the Mullins. Before I describe that, I have something interesting to note. I thought Holly would do really good during the video’s because we watch a lot of Baby Einstein, but what I realized is that she likes to crawl all over me, and often watches over my shoulder, wiggling in my lap, sideways, ect. And for the testing she had to sit still in my lap and not flip, flop and wiggle. She didn’t much like that. But I never realized how much she did move around during out “quiet” time in comparison to being in a situation where she had to stay stilish (at least keep her eyes in the same place so they could be tracked.
When we did the Mullins test they had Holly sit on my lap so she would be at the table, and be able to do tasks at table height. We did stuff like showing holly a toy and covering it to see if she would look for it. She then had two covers and put the toy under on and not the other to see if she knew where it was. We tried a simple puzzle. She knew she was supposed to somehow put the piece “in” the puzzle and tried several times in several ways banging it on the puzzle to get it in, but didn’t. We also tried some nesting blocks, but in the way it was presented she didn’t do it. It is interesting because the Mullins is very specific, and you have to show three nesting items take them apart, put them in, take them apart and then Say, Holly you do? Or something to that affect. Then you can’t really help, point, or prompt her. What we do at home, is I point to the container and say, can you put it in, and then she will. But presented in a different way, and simply watching her do it and then be expected to do it herself, she wasn’t that interested and would rather chew the cup. In a similar way we did a matching test where there was a key and a triangle and then holly had the key, and she would say something like, show me which one is the same, Holly same? But she isn’t really that advanced yet either. I think we did some stacking which she isn’t doing, and then putting in and out. I think she passed that one. She had to take every item out of the container and then put every item back in. But about half way through putting them back in, she wanted to start taking them out again, so I don’t know how you score that. Then there were some gross motor skills which she is doing, except the independent walking, and they asked us about a few other things based on our observations.
All in all it went rather quickly, but she had a lot of fun sitting table height and doing the activities, so we are going to try that with her using the hanging on table chair, and try and teach her a few tricks.
After we went back and got through the last two videos, but Holly was very tired, since she had been up since 10:45 she was going on 5 hours, and she was doing very tiring tasks. We had to do a blood draw, because she still needs a final third test done, but they poked her twice and didn’t get a vein, so we said enough, let’s try it next time, and no blood was taken, but she sure wasn’t happy about it. They Had Baby Mozart, and put that on for her, and the prick hurt, I think if at that point they had found a vein and let the blood flow she would have just been whimpering, but they were looking for the vein, poking the needle around and pressing down trying to find it, so she was crying most of the time, but the whole thing was less than 10 minutes including breaks.
Afterwards we drove home. Holly slept in the car on the way back and that is pretty much our trip. They want us to come back in 6 months, and I will be scheduling that with Vivien.
Running! Yes, real running according to me.
6 hours ago