Trip to St. George and the Geneticist

Its fun having the kids in the car. This is the First time they are pointing out geographic features.


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Again, I was trying to use the mobile blogging feature. I have to work on this and see if I can get it worked out.

We had an appointment for Margaret and Joseph at the geneticist at 1:00pm Utah time. Dr. Arch is in St. George, Utah. There is only ONE geneticist in the state of Nevada and to get to see her there is at least a three year waiting list. So we went to Utah. The drive should take about two hours and twenty minutes but the drive was more like three hours. There was a small traffic accident on the way out of Las Vegas and I had to go through two construction zones before I arrived at the hospital (this is where the geneticist has her office). Luckily for us there were other patients from Las Vegas that day and they were late also so when I called and said I was running late it was not a surprise to the staff.

On the way there the children really where pretty good. I had the foresight to through in some books and toys into the car before we left. The kids played and shared SO nicely back there. I was SO proud of them. They were also having fun pointing out geographic features like cacti, mountains, rivers and trees. Especially when we went through the Virgin River Valley Gorge. James got out of the car and lead the way into the hospital. The kids played in the waiting room and got into the bag of food I brought with me as I went over paper work. Then we were escorted into the back and into a waiting room.

The kids now wanted to play with the toys in the room. It was about 10 minutes later the Dr. Arch walked in. We quickly discussed Margaret. With Margaret having a normal micro-array analysis and the MRI of brain damage I feel as though I know what I basically wrong with her. I think all of her problems stem from brain damage. Joseph on the other had is COMPLETELY different.

With Joseph having a normal MRI and DNA analysis but he is severely impaired in function I can only think there is something wrong that the doctors have not found yet. Joseph did have some blood work that showed some abnormalities. We discussed getting a muscle biopsy done. I will be working on getting the authorization re-approved.

If we get the muscle biopsy done it will be a BIG deal because we will have to drive four hours to Los Angeles and Joseph will have to be put to sleep. It would be like an out-patient surgery sort of thing. Very scary in some ways but it would be SO good to get it done and determine if he has any muscle myopathy or mitochondrial problems.

On the way home Margaret was getting restless. Sitting in a car seat for so long makes he cranky. About two hours into our return home Margaret got mad at James for some reason and the next thing I know he is screaming in the back. Then he says that Margaret bit him. I made her apologize. Man, it is rough making a car trip with her. She can get so hostile sometimes. Got to remember to put her on the outside and not between the boys. This would at least limit the amount of damage she could do because she could only reach one person.

I would guess most people would not be surprised when I say I was exhausted when I got home and couldn't have been more thrilled to stop for the night...lol.

Bloodwork...the bane of my existance! GAH!!!

Thwarted yet again by Quest. The DNA test for Joseph has a 15 day turn around time. This means 15 days is the LONGEST it should take for me to get the test back. That day was today. When I went to Quest though the test results had not been reported. I will have to try again tomorrow and hope they will be there.

In the meantime I have been trying to get everything ready for the IEP meeting tomorrow. I spent the afternoon running around and looking and trying to get Homebound paperwork completed. I have also been working on finding a wheelchair for Joseph. I can't continue to carry him around everywhere. This is especially true when we get around to starting growth hormone treatment for him. I am also looking at getting him some sort of helmet. In the past three weeks he has fallen several times. In three weeks he has busted his lip 6 times, pushed his front right tooth forward to the point he looks bucktoothed and he chipped the bottom of both teeth. Joseph has been trying to get braver and let go (something PT has been teaching him) but he is having really BAD falls. The PT said if we get him a helmet it will throw off his sense of balance and make make some regression in learning to walk. I told her when it comes to possibly loosing his teeth because of the damage he is doing to them when he falls then he NEEDS the helmet.

I won that argument...lol. Now we just need to see what we can find him what will protect his mouth and be lightweight.

On a sadder note I have been working on raising money to send Joseph to the Hypotonia Center at Johns Hopkins and it seems like my fundraiser has stalled out. I am not sure what to do besides pray that things will work out. I have to find some time to brainstorm some ideas. Any input would be welcome. :D

On, what I think is an even sadder note, I sent my parents Joseph's fundraiser website information two weeks ago. They still have not even LOOKED at the site much less make any effort to help. This is after my mother pays $1200 to get her drug addict sister out of jail and into a rehab program because her sister was looking at the "third-strike" offense and would be jailed for at least 15 years. Keep in mind she is 50 and has a VERY extensive rap sheet. Makes me sad that my mother thought it was more important to help her sister who has thrown her life away on drugs and alcohol than to help Joseph. The poor boy has done nothing wrong and he deserves help.

We have a plan!

Yesterday was SUPER busy but there were good things that happened. The MOST important thing that happened yesterday. I had a list of phone calls I had to make yesterday. One of the calls I had to make was to the Hypotonia Center. It had been two weeks since I last had contract with the clinic when I sent in Joseph's medical paperwork. After giving them a call I was told that I would be getting a call from an appointment setter in a couple of days.

I was not happy about waiting a few more days but heck, I had all ready been waiting a long time, what was a few more days. To my surprise I got a call 30 minutes later and the appointment setter said there was an appointment available on December 22 at 12:30pm and did I want it. I said yes but then I hesitated because the appointment was SO close to Christmas. I told the appointment setter that I wanted the appointment and if I needed to change it I would call back. YEA! We have an appointment!!!

We will be meeting with Dr. Ronald Cohn. He will be seeing Joseph. I have to admit after looking over his web page I think he is highly qualified to help Joseph. This gives me a LOT of confidence!

The ONLY reason I would cancel the appointment now is if the DNA test showed something. I cannot wait for the test results. I know the geneticist thinks Joseph's DNA is normal and the doctor might be right BUT I want proof! If the DNA is normal then I think we have NO choice but to move forward and go to the Hypotonia Center. My next big hurdle will be to raise money so we can go. That will be my job....

A Pee and a Poke

Thursday was a day full of fun...NOT! I left for a while to get some school work done and my husband was nice enough to try and collect a urine sample from Margaret and James. Now keep in mind these children are not potty trained. We were given these plastic bags with an opening that is sticky. You peel the sticker off and attach it to the private part area. All this being said it seems to work pretty well for boys, or so I thought, and for girls I had NO idea how this was going to happen.

I apply the collection bags first. Margaret was so unhappy that she was screaming and flailing around but I got it on her. Then I put her diaper back on and hoped it would work. I then put one on James and I thought that went pretty successful. So then I left and let John do the first collection.

When he checked the bags had come off and spilled any contents into their diaper. So round 1 was a bust. John placed another bag on them. When I got home tow hours later I checked the children. Again the bag detached from the skin and allowed the contents to leak in the diaper. So yet again Round 2 was a bust. We tried one last time and waited until bedtime. Round 3 a bust! If anyone has any ideas on how to get a urine sample from children who are not potty trained and have limited verbal ability I would LOVE to know. :)

Since the urine collection did not work I thought I would still take Joseph into the lab to get blood drawn.

So Friday morning I was suppose to get up early and so was John because the blood test Joseph had to do was fasting. We over slept though and did not get up until 8am. Joseph was in a good mood though so we went ahead and left. I needed to get blood work done too so I thought we could "kill two birds with one stone" by getting us both tested. We got to the lab (Quest) and signed in. I thought we would get in pretty soon because we had fasting tests but little did I know how wrong I was.

I brought a bottle in the diaper bag for Joseph so i could give it to him as soon as he had his blood drawn. Joseph was his "good" baby self though and he crawled around on the floor entertaining himself by crawling/hopping like a frog. The people around us thought he was adorable. He crawled/hopped around and under the chairs of various people. Then he "hopped" across the floor and would just bump into people or furniture before he would stop. Again, the people there were really kind as we waited and did not mind.

After 75 minutes passed we were called up to the desk. I handed the woman Joseph's lab slips from the neurologist and the geneticist. The tests for the neurologist she was able to process because he had used a lab slip and the tests were all coded. The geneticist on the other hand wrote the lab order on the prescription pad. There was at least one test she could not find so she told us to sit down while she called someone to see if the could do the test and determine how it was done...lol.

So more waiting in the chairs. Joseph, still having not eaten, was being a good boy. He was crawling around bumping into people and furniture. About 15 minutes later I was called back up and we were officially signed in. Just an hour and a half after we first arrived.

So more waiting and we were called back another hour later. I went into the back and held Joseph. I was SO proud of him! They checked his right arm and could not find a vein. I told the people that he was a preemie and most all his veins were shot. They tried the left arm and found a tiny vein deep under the skin. I was worried for him because I know this could go VERY wrong.

The woman there knew what she was doing. She put her gloves on and Joseph whined. This was the first time he had made any sound besides some happy babbling. I held him tight and she poked him with the needle. Joseph did not even cry. He just whimpered for a few seconds and he was done. She did such a good job sticking him that she was able to get all 7, yes it was that many, vials of blood out without having to move the needle around or anything. Yea! By the end I had Joseph laughing. To make things even better momma went next. I had my blood drawn too. Then we went to the lobby where I let him lay in the floor and drink his bottle. It was a little after noon and I knew he had to be starving! After he had his bottle we went home. What a long day and it was only noon!

I hope to have the results of all the blood work back on Wednesday. The MicroArray DNA test will be another week after that. Can't wait to see the results!