Developmental Pediatrician

We had our appointment with the developmental pediatrician on 3/5. I have very mixed feeling about it. The dr that evaluated him says he is only 4 months behind developmentally. No one including his pediatrician believes that. When he is around children that are 18 months or older it is in your face how far behind he is. The dr did not see him interact independently. Every test he did was with Connor sitting on Joe's lap. Any one who works with him knows that what you see when he is "contained" in a chair or lap is not what you see when he is on the floor on his own. (it is now believed that this is because of all of his sensory problems). He did not watch Connor play & see how he doesn't really play. He paces, stops looks at a toy for a few minutes and then starts pacing again. Anyway, even with all he didn't do, he has diagnosed him with PDD-NOS. Which means Pervasive Developmental Disorder No Origin Specified. So, the long and the short of it is that Connor does fall into the autism spectrum. There is a great web site Autism Speaks that explains PDD-NOS if anyone wants a better understanding of this. http://www.autismspeaks.org/navigating/pdd_nos.php .

Connor has started Occupational therapy. He has so many sensory problems that they are going to try a special music program. It works with the brain to try and make some of the connections that are either not connected or broken. He is stimming so bad lately that I don't know what to do. He is also getting more and more violent. I getting so that I don't know how to handle him anymore. I am covered in bruises. He will be slamming his head into you one minute and hugging you the next. He paces around the living room in a circle humming the whole time for an hour or more at a time. Julia is becoming afraid of him because you never know what is going to set him off and he will start hurting you or himself. Because he doesn't feel pain like a "normal" kid we have to be very careful when he does start to flip out. Walking away from him when he is like that doesn't work because he just turns the violence on himself. I am really at a loss.

We are trying to get him in with a Neuro Doctor outside of CHOP for a second opinion and to see about another round of IVIG for him. Unfortunately we are not having any luck. I have called DuPont Children's hospital and Bristol Myer's Squid Children's Hospital (Robert Wood) and neither one is taking any new neuro cases. I don't know if they really aren't taking new cases or they heard we were looking for a second opinion and decided they weren't interested. Our pediatrician is now trying to talk to some dr's and get us in somewhere.

Connor will be ageing out of the Early Intervention program in September. They only take kids until they are 3 then they have to go to a special needs preschool. I am NOT OK with that at all. He will have to be on a bus because I can't drive him due to my disabilities and I don't even know how I will get him to the bus. I don't want him in a school so young. I know people do it all the time and I have nothing against it if it is right for them. It is not right for me. I didn't send any of my kids to preschool or day care. I know I need to send him so that he can have the best chance of a "normal" life someday but I am not OK with it and don't know how I am going to handle it when the time comes to actually put him on the bus scared to death. (he doesn't handle being away from me very well at all and doesn't handle new situations at all well). I just wish that our state did it more like NY. From what I understand they have early intervention till 3 yrs and then another program pick them up in the home until 5yrs of age & then they go to special needs school. I would be much better with that kind of program.

I will write again as soon as I know when and where we have a new neuro appointment. I am hoping it will be soon and not months away. Thank you all for caring and following Connor's story.

1/6/09

It has been a long time since I have updated everyone. So much has gone on. Sorry for the long delay. Connor was doing really well for awhile after his IVIG therapy. Unfortunately his neurologist feels that his progress was just a coincidence and not the IVIG therapy that did it. She is the only one that feels that way. All of his therapists, other doctors, family & friends saw a big change in him and it was too soon after the therapy and too drastic after almost 1yr of regression and delays to be anything but the therapy. His walking had gotten better. Not up to what a "normal" 2yr old would be walking and doing things but definatly better than he was. His words and developmental age were getting better. Again not where he should be but much better than where he was.

A month or so ago we realized that he was having an increase in sensory problems. He was starting to have more falls. He knows when he is having a real bad day and uses his walker on his own. But, he doesn't show fear after a fall like a typical kid. He also doesn't seem to feel pain like a normal kid. If he cries after a fall then you can be sure he really got hurt. Around Christmas he started to have a lot more falls. He ended up with a fat & split lip with a blood blister on it plus a few bruises on his forehead all for his Christmas pictures.

Since the last posting his therapies have been increased. We had a Occupational therapy eval for all his sensory problems and his fine motor skills. They have said that he has alot of problems and needs to start therapy ASAP. They are trying to push that paper work through. That will be a minimum of 2 hrs/week. He has PT 1hr/week, developmental intervention 6hrs/week & speech 1hr/week. He is up to 10 hrs/week of therapy. Yet he is still a year behind in just about everything.

We are still trying to get in to the developmental pediatrician for the evaluation for autism. That needs to be either ruled in or out. He has alot of autistic traits but at the same time he has other things going on that have nothing to do with autism. His neuro dr seems to think that is what is going on now. Mind you she hasn't seen him since October. She only talked to me on the phone yesterday for 10 min and decided that the fact that he is getting worse and his walking is getting bad again is not ataxia or neuro problems but autism. We do have an appointment with the developmental dr but not until September 14, 2009. Our pediatrician called this dr and told him Connor's history and the developmental dr said he will see us before February and that Connor can not wait until September to be seen. Thank God for that. I don't know that I can wait that long to have this done.

We are in a holding pattern now and while we are playing this waiting game with the dr's Connor is slowly getting worse again. His speech is still better than we were but he is repeating things over and over again. They call that echolalia and it can be a symptom of alot of things. There has been a lot of upheaval in the house lately from some so called "friends" which I am sure has not helped Connor or his progress any. We are trying to overcome any damage caused by that. The holidays seemed to have also kind of upset the balance of things with Connor. I am hoping now that things are getting back to normal we may see some improvement with him again. I will post as soon as I have something new to tell. Hopefully we will get the developmental dr eval done soon. It would be real nice to have a diagnosis for him. Without that we don't have any idea of what kind of prognosis we are looking at. Keep Connor in your prayers please. He still needs all he can get.

IVIG update 9/13

Connor went in on 9/2 to Children's Hospital to start his IVIG therapy. We got home late on Friday night 9/5. He handled everything pretty well. Connor had no major complications. He woke up during one treatment and freaked out. We aren't really sure what caused it. I think he was in pain of some kind because of the high pitch scream he was doing. They told us to watch for vomiting even though he did that right before we left there and they thought nothing of it. He has had a few more "freak outs" since we have been home but again I am really not sure what it means. He is completely out of control when it happens. He will only allow one of us to be near him or hold him at a time when he is going through this. I have some pretty major bruises from the last one we went through. He practically threw himself out of my arms. It was very scary to watch.

We met with a bunch of different dr's all over again while we were in there. We met with the metabolic team and the attending dr of the neuro floor. We were given a questionnaire to fill out because of Connor's developmental delays. They came back later to tell us that he failed the autism screening test on multiple levels. We now need to see a developmental pediatrician. I have been informed by our therapists that this will probably take about 1yr to get an appointment. The dr's also decided that if this does not work in about 1 months time we will start the process of getting him in for the muscle and skin biopsy. Connor also went through another overnight EEG. That lasted about 16hrs. Not the 48 hrs the other neuro dr wanted but at least it was better than just an office one. That came out fine. They didn't do the CAT scan for his liver because no one felt his liver this time. I would have felt better if they had done the CAT scan just to rule out a problem especially since there are 2 dr's on record that felt something. Connor also had a problem with his blood pressure while we were there. Actually he has had it happen quite a few times even before this hospital stay. His blood pressure went up to 154/90 at one point. It had been up and alarms going off many times and they would just come in and shut it off and say "he is really moving around in here, hu?" I would then tell them that he was sleeping and hadn't moved. They just blew that off too because IVIG lowers the blood pressure not raise it. I am going to be bringing that up to our pediatrician ASAP!

We were told that we could see results from the IVIG as early as 48hrs to 4 weeks. If after 4 weeks we don't see a change then they are going to call it quits with the IVIG. If we see results we can go through the process again in about 2 months. We have to go and see our pediatrician on Tues 9/16 for a follow up and to make sure he isn't having any of the other complications that we just can't see.

So far we haven't seen any thing to say that this is working. Physically, there has been no change. His choking has actually been a bit worse. Developmentally, Connor said his first word since this started that wasn't him just parroting!! He said "ball". His therapist has been working on this word since they started working with him. This week she held up the ball and he just said "ball". We are so excited. No one is taking this as a sign that the ivig worked yet because it is such a small step and we can't be sure if this is from the ivig or from the persistence of his developmental therapist. I still am holding out hope. We still have time. And I look forward to his physical therapy this week to see if we can see any improvement.

Connor's therapies through early intervention are coming up for a review already. I know that they are working on getting him a behavioral evaluation to see if behavioral therapy will help him, Physical therapy is looking for more time, developmental therapy wants more time with him and our social worker has told our case manager that speech therapy needs more time. In other words, Connor & I are going to be very busy!!!

Thank you for all the thoughts and prayers. I can't imagine how we would be handling all of this without the love and support we get from our family and friends (ones we know and the ones we just haven't met yet). I will post as soon as I can or sooner if there is anything new to tell you.

8/28 IVIG APPROVED

We got a call on Monday night from our pediatrician. They harassed the ins co and after days of phone calls and some great dr's persistence...our ins co approved the IVIG therapy!!!!!!

We had an appointment with our neuro dr on Tuesday and we weren't sure of any of the details yet. We went prepared in case they put us right in to the hospital. Well nothing ever works out as planned so we are still waiting for our admission date. It looks right now as if it is going to be on Tuesday next week 9/2.

No one is sure if this is going to work or not. It is something that they are just trying. As our dr put it, this is something that if we didn't try we would always wonder what if. If this doesn't work then the next step is the muscle and skin biopsy. Our neuro dr is trying to set it up so that he will come see him while we are in the hospital. Connor will also be getting a full body CAT scan to check the liver enlargement and to see if that gives them any clues. They also want us to see a developmental pediatrician. Our neuro dr made a statement like "I don't know if Connor has truly regressed or if he has just developmentally plateaued". If he was doing something at 12 & 13 months old and he is not doing it now then that is a regression!! She also asked if I thought he was autistic. I told her that I have asked questions about it but only because he has autistic traits not because I think he is and every dr we have asked has said no!! What ever is causing his ataxia, balance, choking and speech problems is also what is causing the developmental problems.

We may not know ahead of time what day exactly we are going into the hospital so I may not be able to post again until we get home. I will update this site as soon as I possibly can. Please keep praying for Connor. We are real scared going into this. He could have some bad reactions and side effects. I pray we are making the right choice and that it will help him. Thank you everyone for your prayers. They mean more to us then we can possibly tell you.

UPDATE 8/20

We had our appointment with the new Neurologist at St Christopher's children's hospital on Thursday. We didn't get any definite answers but I feel the trip was worth it. This dr doesn't feel that what Connor has is a straight forward case of cerebellitis. She told me that cerebellitis does not cause developmental regression or developmental delay. She also said Connor's liver was enlarged. She is not sure if it is enlarged within normal limits or not. It isn't a massive swelling but she could definitely feel it which you are not supposed to be able to do. Connor is going to need a CAT scan now to check that. Another sedation procedure. If his liver is enlarged then that would make her look at a whole new area of things that Connor could have like storage compartment diseases. I have looked that up and there are 50 different diseases and every one of them have different symptoms and different prognosis. It is going to take me awhile to get through them all. She also wants him to have a 48hr EEG to make sure that his zone out times and twitches are just that and not seizures. She is going to back our dr in trying the IVIG therapy. If that doesn't work then she feels we need to go ahead with the muscle and skin biopsies to look for mitochondrial diseases.

We go to our regular Neurologist on Tuesday the 26th to see where we go from here. She wants to do a EEG in her office which doesn't make any sense to me since the other dr recommended a 48hr EEG. We need to bring a letter from our physical therapist stating what she sees with his ataxia which is that he is more shaky and off balance than normal and things he was able to do even a week ago he is struggling with now. Our dr is going to use all this to try to convince the insurance co to pay for the IVIG.

We are also trying to bet a behavioral evaluation on Connor due to all the Autistic traits he is showing. Both our physical therapist and our developmental intervention teacher have recommended this in the hopes that we will be able to get a behavioral therapist in here to work with him too. We have also started Connor with a chiropractor. We haven't seen any results with that yet but he has only been working with him 1X/week for about a month now. We are just keeping our fingers crossed that something is going to start working. I will post again as soon after our appointment on Tuesday as possible.

7/0/08

There hasn't been alot going on with Connor. We have an appointment with a new neuro dr at St Christopher's in Phili on 8/14. Our dr's are hoping if this dr also agrees that we need to try the IVIG therapy then it will help in the fight with the insurance co to pay for it. He has been getting his therapies each week. We did have to make a call to his neuro dr to let her know that his ataxia has gotten worse. Things he was able to do in physical therapy even a week ago he is struggling with or can't do now. When he is in the tub we have to keep a hand behind him because he will fall over backwards. Our physical therapist is writing a letter to let the dr and insurance co know that he has gotten a little worse. I will keep everyone updated as things happen here.

UPDATE 7/2

Well here is the latest. Connor's IVIG is on hold. We were told CHOP was trying to get him in for this Tuesday 7/1. We have been on a holding pattern for the call to go in. I got a call today that our insurance co has denied it. Our neuro dr called and spoke to the medical director of the insurance co and they still denied it. So, the last chance to get Connor in is some last process the neuro dr can try but it takes a long time. It is going to be a few weeks at the earliest for all this to happen.

In the mean time they want us to make an appointment for a pediatric movement disorder place outside of CHOP to look at Connor and see if they can come up with anything. I will keep people updated as things happen.