Saturday, September 8, 2012

UCLA Neurology Department is a Disappointment!

So Friday I was hoping for all sorts of great phone calls and good news.  Sadly, that was not how things went.  So far neither of my phone calls to the homeless shelter in Phoenix had been returned.  I was even referred to the homeless shelter as a partner to another group that serves disabled children.  So I do not understand why I have not heard anything back.  

I asked my new employer for a job offer letter last week.  I wanted the letter as reassurance that I have the job but I also need the letter to show my landlord and a few other places as to why I am moving.  I especially need it for the landlord so she knows I am not just breaking my lease with her for the fun of it.  I called the office but my new boss did not answer his phone so I left a message. 

I called UCLA since I had not heard anything about Joseph getting an appointment there.  I call the number the registration department gave me and moved through the options.  After waiting for 15 minutes on the phone an actual HUMAN answered the phone!  I had NEVER had that happen before when I have called! I spoke to the receptionist.  I told her I was trying to get an appointment for my son.  So after giving her my son's name, UCLA ID number and other information she put me on hold and was gone for several minutes.  She finally comes back and says I will have to call next week to see if I can get an appointment.  What?  Are you kidding me???  I asked her why and she said Joseph's records were sent to the wrong department.  After fighting for about a year to get special  approval to see this doctor we did not make it last year.  It got too late into the year with the cold and flu stuff going around so I wanted to wait.  When I asked for approval again this year it took two months but I got the approval.  I NEVER thought to look and see if the doctor specialized in pediatric patients.  The receptionist told me that Joseph's records went to the pediatric department and their department just got them (adult side).  I was told Dr. Sheih could take up to 10 days to review the records.  I got upset then!  I had been trying to get Joseph an appointment for the last 6 weeks at least and I still did NOT have an APPOINTMENT! Just an appointment people! OMG!  Once he reviews the records he may turn down Joseph since he is so young!  UGH! We just need to see the doctor for a fresh muscle biopsy.  That is ALL!  So I told this to the receptionist and pleaded with her.  She said sorry.  I asked to speak to her supervisor.  I re-explained everything to him and he said there wasn't really anything he could do.  He gave me the direct number of Dr. Sheih's  assistant.  I also got the phone number for the pediatric side.  I gave the assistant a call and of course she did not answer so I left a message.  I called the pediatric side and yet again no one answered so I left a message.  Then I called Joseph's geneticist.  She was the one who wanted the test.  I called and complained to them.  The assistant there is SUPER nice.  She said she would call either Tuesday or Wednesday of next week after she spoke to the geneticist.  She said she is hoping the geneticist would call herself and try to push things along.  Then I called the insurance company and complained about the doctor NOT being a pediatric doctor. I was on a phone calling rampage at that point.  All I could do though was call and leave angry message everywhere and wait until Monday to get a response. 

I have been working on packing items.  I came across the older children's yearbook when they were in K and 1st grade.  OMG, did that bring back memories!  I cried.  I miss my older children.  I regret the time I had to spend away from them to work and go to school.  All the lost time!  I miss having my son around popping out of his room and giving me a hard time. I miss baking cookies during Christmas with my daughter.  I miss talking to her and her sense of humor. I am hoping she will come to visit me for Christmas but I do not know yet.  I was hoping my son ans his fiance were going to come out here and help me with the babies but that is not going to happen.  It would have REALLY helped me out, help them out and I would have LOVED to get to have and play with my grandchild.

One of the greatest things to happen around here in a LONG time is Joseph starting to walk.  It is both a good and a bad thing.  He fell EIGHT times yesterday. He busted his lip a little once and the other times added lumps to his poor little head.  :(  Other than the falling this makes me SO happy!  How could it not?  Just as recently as a year ago we wondered if Joseph was going to TALK or WALK!  A little after he turned four it was all most like a miracle.  One day sitting in the tub he was picking up the foam letters and telling me what they were.  He quickly progressed from there and now, about a year later, Joseph is speaking in full sentences occasionally.  When he fell into the floor he came over to me rubbing his head and said, " I bump my head mama. Ow."  He says it so sad and pathetic it breaks my heart!  I am glad he can talk though!

About a month ago Joseph started to take more steps on his own without holding on to anything.  Now he is mostly walking around the house.  He had a very wide-legged (V-shaped) stance and walk.  He takes REALLY small steps.  He does pretty well as long as he does not get too excited.  If he does then he tends to fall.  I have to watch him.  Sometimes, when he knows he is going to fall, he can catch himself or fall on his rear.  Other times he misses and bonks his head. 

I have noticed, and so have the therapist, that Joseph seems to have good days with motor skill and planning tasks and other days he seems like he cannot do it.  I have also noticed that since he is walking now he tends to take a nap again in the afternoon.  As I have mentioned I am wanting to get Joseph tested for mitochondrial disease.  The way he behaves with the motor issues I have often wondered if he suffered from silent seizures.  There was one time I swear I saw Joseph having a seizure.  The neurologist we see in Vegas (dislike him a lot bwt) did a short EEG on him (less than an hour) and said it showed no activity so there was nothing wrong and what I saw was Joseph having a night terror.  One plus to being older and having older children is I have had experience with night terrors and THIS WAS NOT IT!  Joseph not only did not seem like he was able to recognize me but the muscles ALL over his body were twitching.  What concerned me the most were the muscles in the middle of his back near his spine.  They were twitching too.  Those are not muscles the average person would ever have move.  Another thought I had was Cerebral Folate Deficiency (CFD).  CFD can manifest itself in a lot of ways.  Some of the possible symptoms are: ataxia, developmental delay, autism-like symptoms, intellectual deficiency, microcephaly, hypotonia, dyskinesias, spasticity, speech difficulties, and epilepsy.  Joseph has quite a few of these symptoms and I want to see about getting him tested since possible causes for CFD are genetics and autoimmune issues.  I don't think Joseph's cause would be genetics but it could be autoimmune.  I have autoimmune issues and so does he.  He has all ready developed autoimmune thyroiditis. 

Some resources for CFD are:
Cerebral Folate Deficiency (CFD) and Mitochondrial Disease
What Is Cerebral Folic Acid Deficiency?
Cerebral folate deficiency.Cerebral folate deficiency: life-changing supplementation with folinic acid

There is also a Facebook page where parents can ask questions about CFD, get information on CFD testing and other great tips is  

Here is a video of James and Joseph playing.  James watched the cartoon Sonic and he was running around saying he is as fast as Sonic. Joseph wanted to play too so he was walking up and down the  James is sometimes so rough but other times he is a good brother.  He did not even knock Joseph down while they were running.

I have been talking to my friends and family about our upcoming move.  I was telling my father that I was going to be homeless at the end of the month.  He said he did not believe that would happen. I said that was the path we are on.  There was no other way to see it.  He said he would talk to a cousin of his in the area that was big into the Shriners.  What good that would do I have NO idea. 

My poor friend Krissi, she lives in California with her disabled son, is appalled I cannot find help. Bless her and her indignant   She lives in a small town and she wanted me to put together a flyer.  She said she was going to hand those out and put collection jars in the local restaurants.  It really is about one of the kindest things anyone has offered to do for me. 

I am not sure how the move will come together but it will one way or another.  I was hoping John would offer to take the children today.   It is not his weekend but if he took them for the day it would have been a huge help in packing and cleaning since they would not be under foot.  Plus, knowing we are leaving town, I thought he would like to spend what time he could with them.  Whatever.  The time is his loss.  As for packing, if I can't get it all done because of my hand (still having major issues from the carpal tunnel surgery) then I will call Goodwill or someone to come and take the rest away.  Got to have the house cleaned out for the landlord!

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