5/30

There has been alot of things going on this week. First Connor's neuro dr called and wanted to know how he was doing. I told her the same. She said we have to start thinking about iv steroid treatment. She said that if he was getting worse then the decision to go ahead with it would be easy. But he's not getting worse he is staying the same. The steroid treatments are not without risks. The risks on worse case scenario could be death. They are in the process now of setting up another MRI & spinal tap. We will get the results of that and then make a decision. If it is cerebellitis he is not getting better on his own. My only problem with this is that no one can tell me for sure that this is what he has. We have 3 dr's thinking he has 3 different things.

Connor's blood work is finally back. That only took 7 weeks. That Dr said that it didn't show any of the things that they were looking for. I am not quite sure what that means since he didn't say that all the tests came back negative. Just that it doesn't show what he was looking for. So, he wants to do the biopsies. I said yes. Because, if Connor has mitochondrial disease then we don't want him to have the steroids. This will be surgery and it will be under general anesthesia. They will be taking muscle and skin biopsies from a few different spots. This dr feels that the odds of something coming back positive from this is somewhere between 30-40%. The dr is trying to set things up for this now and will let me know when.

We got the report from the feed/swallow team. That one said Connor is being treated for paroxysmal leukodystrophy. Of course this diagnosis was new to me and I freaked out. Where did this one come from and why don't I know about it? I called the neuro dr right away and went to look it up while waiting for her to return my call. The Internet says that it is a myelin disorder where genetically he is either missing an enzyme to produce or metabolize myelin. The symptoms certainly sounded like Connor's. Our neuro dr doesn't know where this came from either. She had me call the feed team to see where they got this. Because like she said if someone diagnosed him with this she needs to know about it. So far no one has gotten in touch with me from there. Our neuro dr even e-mailed the director of the team and we still haven't heard anything. The ataxia dr said that he thinks they gave him that diagnosis in the strictest sense of the word (what ever that means) and he wouldn't say that Connor has this. At least right now.

We also had our meeting with early intervention this week. Connor is going to be getting Developmental intervention 2X/week, Physical therapy 1X/week, Speech therapist 1X/month (to follow things since the developmental intervention will work on this also) & Social worker 2X/month for now until things stabilize with him. They are calling it family support. I think they feel mommy is starting to come unglued. (they wouldn't be too far off the mark with that). Hopefully at least some of these services will begin to start in 2 weeks but no longer than a month. Connor also gets his helmet on 6/10. Our " GREAT" insurance won't cover this "type of device". They also suggested we get his hearing checked just to make sure that he is hearing all tones. There are times we have worried about his hearing because when you call him and try to get his attention he doesn't respond to you. He does hear music and loud noises. We just want to make sure that there isn't a problem there that is complicating things. I have a call in to his pediatrician about getting that done too.

On top of all of this Connor's left eye has started to cross at times and it seems a bit droopy. I did mention this to the ataxia dr and he said that it could mean that things could be getting worse. Now the rush is to find out what he has before things get worse and there is no coming back from it.

Update 5/14

I didn't realize how long it has been since I posted here. Sorry for that. It has been crazy. Connor had been sick with a real bad cold for over a week that required trips to the dr with a very cranky child. There isn't a whole lot new. We still don't have the results of the blood tests for the mitochondrial disease. I called the dr today because it has been over 5 weeks now. They have not called me back. Everything seems to be at a stand still.

We did have the evaluation with the early intervention team. Connor qualifies. I knew he was behind developmentally. You would have to be blind to not see that but I didn't realize how far behind. Once they gave me the numbers I cried. Here is how he tested (remember he is 19 months old when you see these numbers) :

Cognitive ( learning, play skills, problem solving) 6 - 13 months
Gross Motor (crawling, walking, moving) 12 months
Fine Motor (eye/hand coordination) 10 months
Communication (talking & understanding language) 3m responsive, 11m expressive
Social/Emotional (interactions with others & toys) 5-8 months
Self Help/ Adaptive (feeding, dressing, toileting) 8 months

As you can see he has had significant regression. We are scheduled for a eval meeting for 5/23 where we will set up a plan and start the therapy. The sooner the better as far as I am concerned. I feel it should have been started months ago. They also want him to wear a helmet for protection whenever he is on the floor walking. We are scheduled for a fitting on 5/20 for that. I have gotten some attitudes about that already from some people. How could I do that to my son? It is wrong of me to do this. I feel that whatever will keep him safe is the right thing to do so we are going ahead with it. He gets hurt enough now. We don't need him damaging his head and making things 100 times worse. Today he fell in his bed and cut his mouth open. He falls all the time and we are fighting to keep him safe till they figure things out.

Hopefully we will have some news on the blood tests soon. I plan on harassing them until they call me back. They will be getting phone calls from me on a daily basis until they get so sick of me that they will finally return my calls. I will post again as soon as something new develops.

4/24 Update

Over the last 2 weeks or so things have been hectic. This is the first time I have had a chance to post. Last week we had 2 appointments. One was in Princeton at the neurologists office. We didn't seem to get anywhere with that one. If fact we left there feeling like we accomplished nothing. Our neuro dr seems to want to believe that this could still be a post viral cerebellitis. Even though it is way past time for this to have cleared up or at least started to. Granted, I would much prefer to believe that he has cerebellitis because it is much better than the mitochondrial disease theory. So, at this point she has decided to just wait. She knows that the metabolic team wants a spinal tap for some tests but she won't do it until they call her personally. She doesn't want it to be on her. They have to order it. She told us to make an appointment in July and she will see us then. I am supposed to keep a log of his staring spells in case he is having petite Mal seizures and call her. That's it. I asked her what she thought of the ataxia dr's idea of mitochondrial disease and she just answered "I don't know".

On Friday last week we had to go to CHOP for the speech/swallow eval. Another waste of time in my mind. They were giving us ideas on how to switch him to more adult food (not a concern of mine at all) and that it wasn't too dangerous for him to eat at this point. Of course he didn't choke for them at all so they never got to see what happens on a weekly basis. I was informed that they think it has to do with what ever is wrong with him (really! who would have guessed?!). Then they brought in a psychologist to tell us that she doesn't think he is faking the choking to get out of eating (where the hell did I ever say that? We could have told them that and not cost the ins co over $200!)

Tuesday we went for our follow up at the pediatrician's office. That was just to catch her up and make sure he is at least not getting worse. She wants us to get some blood work next time we go to CHOP. The metabolic team faxed her the script of stuff they want done. We were supposed to get it done when we went to the ataxia clinic but they maxed out the amount of blood that they could take from him in one day. We don't have to see her again now for 1 month unless he gets worse or we need her. I have to call her as soon as I get the results from the ataxia dr.

I started the process of getting therapy for Connor in the house. The dr's want him to get physical, occupational & speech. Now I am just waiting for them to come out to the house to evaluate him. To qualify for this program he needs to be 35% deficient in one area or 25% deficient in 2 or more areas. Our dr's don't seem to think we will have any problem qualifying for this. Financially we qualify for free services Thank God we won't have to pay a per hour co pay. So, now we wait. After the eval they will come back and tell us if he qualifies and then set up goals with us and from there get the therapists out here. If he doesn't qualify then they will direct us where to go to get him the help he needs. Most likely if he doesn't qualify then he won't get the therapy at home and it won't be free. I don't see how he can't meet there idea of qualifying. Not with how behind he is now.

We are waiting for the mitochondrial results now and everything seems to be on hold with that. As soon as I hear anything I will post to fill everyone else in. Keep the prayers coming for Connor please.

EMG & Ataxia clinic 4/8

Tuesday was a real rough day. It has taken me this long to get myself together enough to write this. Connor got his EMG @ 9. That was hard on him and hard on us to watch him go through it. That test came out negative. We went straight to the ataxia clinic just like I was told to do. No one ever called me back when I tried straightening out the 3:15 appointment. I decided that I was going to go ahead just like I never knew about the 3:15 time. Let them try to blow me off to my face. Joe was a little concerned that I was going to end up arrested if they tried making us wait for our appointment but I was determined that they were going to see him and he was not going to wait 6 hrs or so between appointments.

We got to the ataxia clinic around 10 and around 10:30 we were called up and told that the dr was going to try to get there before 12 so why don't we go get something to eat. That was fine with us. We were hungry and thirsty by that time. We got back just before 12 and we were seen by 12:15. I really like this dr. There was just something about him that made me feel like we were going to get somewhere with him. He thinks he knows what Connor has. He isn't sure but he thinks he has something called a Mitochondrial disease. There are 40 different kinds and we aren't sure what kind he has if this is it. There is no cure and no good treatment for this. The progression of this disease is anywhere from mild to fatal depending on which of the 40 he would have. There is a test for this but it has alot of false negatives. Even if he has this disease the test only picks it up about 30% of the time. It takes up to 5 weeks to get the results back.

We went and had the blood test done as soon as we were done at the clinic and all we can do now is wait. If this test comes back negative then the next step is a muscle biopsy. I am waiting to hear from this dr about a clotting disorder that could run in our family to see if he thinks it could have anything to do with what is going on with Connor and if we need to pursue it. He doesn't think so off the top of his head but like he said outside of the mitochondrial diseases this is the only other clue he has.

At this point we don't even know what to think or what to hope for. The dr really did floor us with this news. He seems to really think that this is what is going on with him though. After looking it up myself I have to say that it does seem to answer most of the problems that Connor has had that all the other ideas didn't. It seems the most plausible than any of the other things he has been tested for. Please keep him in your prayers. He really needs them.

4/4/08 CHOP appointment

Yesterday we had a 1:30 appointment with the ophthalmologist. They were to check for a condition that I couldn't find out much about. It looked like it was some type of cancer but I am not sure. Connor does NOT have it. Thank God! The dr there said before he dilated his eyes that they didn't think it was what Connor had because as long as he has had all his symptoms then he would be blind by now if that was what it was. His eyes are fine with no clues as to what is going on with him.

It was a very long day. Between traffic and construction, we left the house by 11:30am and did not get home until after 6:15pm. This has to end soon because we are all feeling mighty frayed around the edges. Poor Connor sitting in a car seat for hours on end with only doctors and tests in between has had enough and so have the rest of us.

We are supposed to be going back on Tuesday 4/8. He has to go to Pennsylvania University Hospital for an EMG and then right over to CHOP to see the Ataxia dr. The EMG appointment was supposed to be at 10:30 but the ataxia team wanted to see him that day and they were trying to squeeze him in before the clinic started. They told me to go ahead with the EMG and hopefully they would still be able to still see him. But, they couldn't promise. It all depended on the timing. So, I moved Connor's EMG appointment up to 9:00 so that we could make sure that the ataxia team would get to see him. We got home last night to a recorded message that his ataxia appointment was at 3:15. I was mad. I moved an appointment up and we are having trouble getting Julia off to school because of it and now we don't have an appointment till 3:15?? What am I supposed to do with Connor for the 5hrs or so between appointments? I called them this morning to try and straighten it out and the receptionist didn't know anymore than that the appointment is in the book for 3:15. She took a message and I am waiting for the nurse to call me back about it. Then the EMG place calls me up to tell me I need 2 referrals for this appointment (I don't & we got that fixed) but then she tells me that I have an appointment for 8:30am!! There is no way we can make that. As it is we were going to have a hard time getting there for the 9am appointment. They are trying to see if anyone will switch appoint times with us. I am waiting for a call back about that.

So, for now Tuesday is up in the air. We know nothing new except more things that Connor doesn't have. The speech/ swallow eval is not until 4/19 and the metabolic team isn't getting us in until 6/24. Connor is still the same no improvement and not getting any worse. He is exactly the same including developmentally. He has not gained any ground in that department at all. I am still trying to get all the therapies set up for him but the way our appointments are spaced that has not been easy.

I will keep everyone posted as things progress.

3/19 update

Yesterday we had an appointment with Connor's pediatrician and she was upset to see that he hasn't gotten any better. She is also very concerned with the fact that he hasn't regained any words and that he seems to be choking and throwing up alot. She told us that she was going to call our neuro dr today and the metabolic team and then get back to us. As of now Connor will not be receiving any more vaccinations until we get a handle on what is going on. She doesn't want to complicate things or make them worse.

This morning she called me before 10am. She still had a call out to the metabolic team but she did speak to our neuro dr. Seems that they have decided that there might be something more than cerebelitis going on. Connor has had the ataxia (what they call the kind of walking he is doing) for long enough that it is now being considered chronic. He has had it too long now for it to be considered acute. That seems to have changed things in their minds. Our pediatrician is getting another speech/swallowing eval. They want to find out what is going on that he has reverted to almost infantile type swallowing problems. He spits up alot, vomits & chokes. All things infants do. He never really did it before this all started. I am waiting to hear about that and when it has been set for. But, once again a trip to CHOP. Our neuro dr also told her about an ataxia clinic in CHOP. They only deal with obscure and rare causes of ataxia. Our neuro dr wants Connor to be evaluated by them. My question was "why is this the first time we are hearing about this team? and why haven't they been brought in sooner?"

I no sooner got off the phone with the pediatrician when I got a call from the neuro dr's office. They set us up with an appointment for April 15th. At first I was upset that it was so going to take so long. That was until I talked to the DR who they put on the phone next. She explained to me that they were trying to get Connor into the ataxia clinic but that appointment won't be for at least 4-6 weeks. Then she told me about all she wants done in the meantime before our appointment with her. We need to get an ophthalmology appoint to check for some thing I won't even try to spell here. I can't find much on it but from what I did find it looks like a type of cancer. Then we need an appointment with the metabolic team. They told me they didn't believe this was metabolic and never mentioned another appointment but their report to our neuro dr says different. Then we need another blood test to test for amino acids. Connors levels were high but they aren't sure if he had eaten before the test or not (I don't think he did but they want to be sure). They won't tell me what it will mean if this is high and I haven't had a chance to look that one up yet. Then he needs to get an EMG. I don't remember what that stands for but they are looking to see it the electrical current from the nerves are getting through to the muscles right. Plus, we still have the speech/swallow eval.

I asked the nurse if there was anyway to put Connor in the hospital so we can get this all done in a day or 2 because on a good day it is at least 3hrs round trip. She told me that our insurance won't cover it. So, we have alot of traveling, missed days of work for Joe and stress coming up. I am trying to get the appointments together or at least get 1 or 2 on the same day but so far that hasn't been working too well. I will keep everyone updated as we progress through this nightmare. We will deal with the stress & financial mess if only we can find out what is wrong with Connor and how to fix it. It is going through all of this and still not knowing that is really killing us.

SCAN RESULTS

Some good news for a change. The results of the scan came back negative!!!! Now that is a mixed blessing. Thank God that he doesn't have cancer. But at the same time we still don't know what he does have. I am getting very frustrated. I don't even know where to go with this now. I am waiting for the Dr's office to call me back about what we do now. I called them this afternoon and asked if they had heard anything. The receptionist said she saw something come through with Connor's name on it but she wasn't sure what it was. I waited for over an hour for someone to call me back. Our Neuro's nurse called back to tell me the great news and said that there are no plans as to what to do right now. Our Dr just got the metabolic teams report and was reading that to see if there is something that they suggest that hasn't been tested for yet. So, we wait. AGAIN!!

We go to see our pediatrician tomorrow and I am hoping she will agree with us that enough is enough and it is time to try the steroid treatment or the IVIG therapy. If she does she will call the neuro Dr and hopefully get things moving. The Dr's listen to other Dr's alot better than a parent.

We thank you for all the prayers Connor has received lately from the bottom of our hearts. Those of you sending the prayers and well wishes to us we are going to print them up in a book so that we can show Connor one day how many people pulled together to pray and care about him. I will post as soon as I have anymore news or info. We love you all!!