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.

Trip to Utah

Tuesday afternoon we went and picked up the rental car so we could get the children's car seats moved to the rental car. To move over three seats is not horribly hard but it does take time and when it is 105 degrees outside it is not fun. On Wednesday morning we got up early. I gave the children a bath while John made breakfast. Once the bath was over I took the kids downstairs and John had a yummy breakfast prepared. We ate, loaded the children in the car and hit the road.

St. George is only about 2.5 hours from Vegas but they are on mountain time so one has to take that in consideration when you make an appointment. I have to leave at least 3.5 hours before the appointment time. Even though it is only a 2.5 hour car ride keeping 3 hyper kids tired up in a car seat is just asking for trouble. Apparently two hours is Margaret's limit. For the last 30 minutes of our car ride we got to hear Margaret scream. Each time she screamed she caused Joseph to cry and then James lashed out hitting Margaret and telling her to be quiet. What a great last 30 minutes before we get to the geneticist office...lol. We arrived a bit early. The kids were antsy since they wanted to run around.

We met with the geneticist. The doctor said Joseph may be suffering from a genetic condition but the doctor doubted that was the case. The other possibility is a fatty oxidation disease (FOD). This is something that should have been caught at a newborn screening. So the doctor does not think this is Joseph's problem but we went ahead and ordered the test because it only involves blood work. This is also a test Johns Hopkins will probably want to run so we might as well do it now.

The geneticist told me I appeared to be unhappy with the medical establishment so far. The short answer to that is yes. Joseph is 3.5 years old and we have seen numerous specialists and NOT ONE OF THEM can tell me why Joseph suffers from the severe neurological problems he has (no indepenent walking, hypotonia and mental retardation) and not one of them seem to care. To them my son is just a number because there are only a few specialists in Las Vegas and they are SUPER booked. Why shouldn't I be unhappy? I want more for my son!

Raising money for Joseph!

My poor little baby needs to know what is wrong with him so we might be able to help him.  I have set up a site to help him raise the money we need to get him to the Hypotonia Center.  Please visit and donate.  Even if it is a few dollars it will help to get Joseph the care he needs.