Where did the last month go???

Photo Credit: Chasedumont.com

When it becomes a long time since I last made a journal entry it becomes harder to get started because I know there is a lot I want to say but I never seem to have time. I get up at 5am-ish and leave the house no later than 6am so I can be at work by 7am. I work until 4 or 5pm and drive an hour home. By the time I get home, feed the children and put them to bed the small window I have to myself I do not feel like typing on the computer. Though I HATE the hour commute each direction each day I LOVE my job. I can barely say how rewarding it is to be working in the career field I went to school for AND be good at what I do. I have had several people in the office in the last two weeks tell me what a great job I have been doing. That really makes me feel good!

So let me give a brief run down on what all has been happening.

February 12 - I took the kids to a pediatrician. He is new to us and we had a great visit. I am happy we went there. As I have gone around to other specialists they know the new pediatrician and say he is a great guy. How is that for giving you confidence in your primary care doctor!

February 15 - John came to Phoenix for the weekend. We are working hard at re-building our relationship. I am hoping it can happen (for our sake and the kids).

February 19 - Joseph went to the Melmed center to be evaluated. Dr. Melmed examined Joseph and said he may be labeled as autistic. He would need additional psychological testing. It really saddens me to hear this. Mostly because that is not what I think is wrong with Joseph. To me autism is a list of symptoms of a disease. I want to know the disease (root cause) on what is going on with my baby. I am glad of all the improvements Joseph has made in the last year and a half but I would say he is now, at least linguistally, where Margaret was two years ago. I am hoping he will continue to rapidly improve with his speech. I have contacted a psychologist to do the additional testing. I am waiting to hear back from their office.

February 28 - We finally got to see the ENT. I was FURIOUS at first with the doctor's office. I had gotten a call the day before and I asked them if they had received all the information for the Margaret and Joseph to be seen the next day. I was told yes. I had spent an hour in the office last time filling out paperwork and medical releases for them on Feb. 6. The day of the appointment I was called at about 10am. The nurse asked about Joseph's surgery. I said he did have surgery but I did not have the records handy. They were at the hospital and I did not remember any of the details because this surgery happened back before Joseph turned one. The nurse then tells me the doctor will have to have the records and Joseph would not be sent that day. I was LIVID! Here I was having the appointment cancelled on me at the last minute. I got snippy with the nurse but I ended the call very politely. It completely took her off guard because I KNOW that was NOT how she was expecting the phone call the end....LOL. About an hour later I had the ENT doctor call me. He said he wanted to discuss Joseph and would I please call him. He said he was out at the hospital on an emergency and gave me his PERSONAL cell phone number. I was shocked! Every bad thought I was having I lost at that moment. I called the ENT back and spoke to him. I explained about Joseph and why I wanted to bring him in. The ENT agreed with me and said he was looking forward to seeing Joseph this afternoon. I told him his office staff had cancelled Joseph's appointment. He said there was no need for that and to bring him in. He said he was going to call his staff and tell them to put Joseph back on the books. We went to the appointment. I took everyone with me. I had me, Bailey and Alexa along with all three children. In the waiting area James decided to misbehave so I had Alexa take him back to the van for a bit. I know he screamed like a banshee but he did finally calm down. He was able to rejoin us before we went back to the exam room. While there the James was having a fit. He wanted to see the doctor too. Plus Bailey had told him he would get shot if he had to see the doctor...you know what, James agreed. This is the danger to threatening James with something you can carry through. He takes things so literally and he would expect you to carry though with what you promise. He would NOT let it go! When the ENT came in James INSISTED he get a shot. The doctor tried really had to humor him. The fact he took the time to do that made me like the guy! He brought in suckers in the end and James was at least distracted for a bit. We started to talk about Joseph. I explained all that was going on with Joseph and the multiple health issues he was having. Bailey piped in and said I did not believe in vaccinating the children or giving them medication. I explain why to the doctor since he had asked about giving Joseph the flu shot vaccination. When I was done he turned to Bailey and said it was a good thing I was not giving the vaccinations or medication consider all that is going on with Joseph and there are still a lot of unanswered questions. So the ENT examined Joseph and Margaret while we discussed Margaret. Margaret was found to have enlarged adenoids and inflamed sinuses. We are going to treat her with medication at the minute since the only other real option is surgery. I have no interest in having her go through surgery at the moment. I had also given the ENT a list of all the specialists we had seen in Las Vegas. The doctor was nice enough to recommend local doctors for each of the specialties. That was SUPER nice! He is a really great man and I can tell he care a lot about the children. What more can you ask for in a doctor?

March 8th - I get a notice from my insurance about the visit from the Melmed Center for Joseph. I had checked and there was not a problem. The insurance comes back though and says that the Melmed Center is out-of-network and I about nearly panic! The bill is for $660! I cancelled my appointment for Margaret (since it was for the March 13th) because I panicked! I wanted to make sure the medical insurance was going to cover the bill. It took several days and several phone calls but we finally think we have it straightened out. At least the insurance admitted there was a billing error on their part.

March 12th - I called the Geneticist's office. OMG, I wait on the phone for someone to pick up for 40 minutes! I get through and give them information. I find out they are booking appointments into October at the moment. Not shocked but I was hoping for better. They would not schedule an appointment for me until I fill out all the new patient paperwork. I got the stack in a few days ago...WOW! So I will be working on this information so I can fax it in and set an appointment.

You can see the height difference in the boys. It's a lot!

March 15th - I took Margaret and Joseph to the endocrinologist. It was nice because Joseph I was able to talk to someone about all the hormone concerns I have for Joseph. Joseph does not produce growth hormone on his own. When injected with insulin he did produce the growth hormone. So he is CAPABLE of producing growth hormone so I want to know WHY is he not producing the hormone on his own. Normally you have to fight hard to get growth hormone therapy approved since it is expensive ($2k to $3K a month) plus you have to give it as an injection every day. I would like it if we can find the root cause of why he is not producing growth hormone on his own because we might be able to fix that earlier AND we could skip having to go through the expense and daily injections until he is in his late teens. We spent 50 minutes going over Joseph's medical information. The endocrinologist doctor said he had received 60 pages of information on Joseph and did not want to have to read through it all (sad yet kinda funny). I explain in he end my speculation that Joseph my have cerebral folate deficiency and/or mitochondrial disease. The endo. doctor agreed with me that there is a strong chance Joseph could have mito. John said he was the first doctor to agree. I think he was a bit shocked to hear that news too. I had been telling him my suspicions for sometime but I don't think he has been paying a lot of attention to me. I am just the mom who spends too much time on the internet reading and researching stuff but to hear it from a specialist was different.

March 18th - Finally got someone from the Long-term care people call me. They supply the funding for the services I could get the children (such as therapies (OT, PT and ect) along with anything else) through the DDD. I tried to do this before but I could not. I am hopefully I will be able to get it done this time. Got the ball rolling again at least.

Happy Birthday Bill!

March 19th - James had his appointment with the Melmed Center. Since we got the insurance issues worked out I felt safe in taking him. The doctor examined James. It was rather funny. James has become VERY outspoken lately (sometimes good but sometimes bad). In the waiting room James was talking to a little girl (about 8) and then went to her Dad and asked if he could kiss her. What?!?! LOL At least he was polite enough to ask first BEFORE actually trying to kiss her. So some social skills are kicking in! :) When we go back to the exam room the doctor hold his hands so he cannot move away but he would not really ever look the doctor in the eye but let me say the boy developed diarrhea of the mouth! He was saying EVERYTHING including my phone number and our address. I am glad he knows this information but he does not know when it is okay to share and when it is not. The doctor asked me if he has a social filter and I said not really. Then we tell him a story of when James was at the doctor's office with Bailey and he saw an African American. James pointed to him and said, "He is black. We are white. Why is he black?" Know I acknowledge we lead a sheltered life and we could expose him to more ethnic diversity but he has seen African American people before. Bailey apologize and the man was okay about it but it you saw that at the wrong time in the wrong place (especially in the south) you could get beaten up for that. In the end the doctor said he agreed that James is autistic and he is most likely Asperser's. He wrote on his evaluation for James that he is a bright, high-functioning kid. I have to say...I agree. We have another appointment to go back later.

That evening we celebrated Bill's birthday!  The kids were SO excited!  They LOVED eating cake and seeing the candle blown out.  I am glad they had fun!

My Baby lost her first tooth!

March 20th - Mark it on your calendars...Margaret lost her first baby tooth and she is the first of the babies to lose ANY baby tooth on their own (Joseph has his two top teeth pulled awhile ago). I cannot believe she lost her tooth. I am glad she did though. She had her permanent tooth emerging in the floor of her mouth. It looks HUGE compare to the baby teeth. I am hoping the tooth will move forward on its own but I am worried it may not. Will be making an appointment for her to go to the dentist. I got to help play tooth fairy. I had found a small Hello Kitty bag with a toothbrush, toothpaste and dental floss. I put that under her pillow along with a dollar bill. I also placed a dollar bill under the boy's pillows. I did not want them to get it into their head that they had to get a tooth out to get something from the tooth fairy too. In the end the money meant nothing to the children...everyone fought over the Hello Kitty stuff...LOL!




March 27th and 28th - James and Margaret have an appointment with the dentist. They will go first and the next day Joseph will go. It will be good to take them in and have them examined.

Now you are caught up on at least part of what has been going on. I have been SO busy with work and other things too. At least I have been able to get things squared away though. In getting all of this off my mind it leaves me free to think about other things and do write the stuff I need to for work.....Thank goodness! Got to get a paper researched for school and then one written for work. Back to work for me...

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.

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!