© Mowat-Wilson Syndrome Foundation
Chase is now 14 years old. He is nonverbal but uses about 6 signs. He is still not toilet trained and can suffer some serious bouts of diaper rash, this occurs mostly when he is in school, they don’t do a good job of changing him in a timely manner nor do they take him to the bathroom on a regular basis to try and encourage him to try and go.He has been seizure free now for about 6 years, since he had his tonsils out. He has done so well we are starting to wean him off his seizure medication slowly. So far it has not been a problem.
Below is our history of Chase. It was written blog style over a period of about 9 years.
Chase was born 30 days premature. He was diagnosed with Hirschsprung’s Disease, Cryptorchidism, dysmorphic facial features, microcephaly, patent ductus arteriosus, and pulmonic stenosis. He was in the NICU for 25 days. At 5 days he had a colostomy and at 10 days a PDA ligation. One week after he came home, he had to go back in the hospital for pyloric stenosis and have that corrected surgically. At 4 months old he had pull through surgery to close the ostomy and reconnect his colon. He was in the hospital for 10 days, came home for 12 hours and went back because of vomiting due to spasms. He was in and out of the hospital for the next few months for the same problem. He had feeding problems due to gagging, but improved slowly but surely over the next several months. His development was slow and we hoped that was due to all of the time he spent in the hospital. It seemed every time he would start to recover from one surgery, he ended up back in the hospital for another. At 14 months he had surgery to bring down his testicles and was circumcised. He was just beginning to sit independently by then but that surgery set back his progress in that area. Again we attributed many of his delays to all the surgeries and nutrition. From early on his way of exploring things was by thumbing, he tapped on everything with his thumbs. His development always seemed to start and stop. He would start to babble and then for no reason stop, he started to crawl at 21 months and started to cruise around furniture and pull himself up at 2. He never mimicked speech and still doesn’t seem to try. He started using a walker at 2 1/2 and took his first steps independently this past January, but walking seems to be hit and miss too, we know he can do it but he doesn’t seem overly interested in doing it. He still taps, but now with his wrists, and more aggressively, we wonder why they aren’t black and blue and why it doesn’t seem to bother him. He has always had the sweetest disposition (99% of the time) and seems to be very happy. He can entertain himself for hours. He has been in physical and occupational therapy since he was 2 with varying results. Chase was involved in Nevada’s early intervention program until he was 3, then began to attend early intervention preschool through the school district. He loves to play with other children and has made real progress in social skills. He has always startled easily and has a real problem with noise, but he is getting better now that he is exposed to more at school.
Here is an update based on the diagnosis and information we have been able to gather ourselves.
Chase is considered severely mentally retarded; his language skills will be limited or none (based on the small number of other children diagnosed with this condition) but he seems to comprehend a lot of what we say to him. We understand that there is some success with sign language, so we are trying to introduce him to more of that and hoping for some positive results. The hard part is the repetition involved, but it’s the same trying to teach him anything, you just don’t get results very quickly, and you have to keep at it constantly. There is a 90% chance of him developing seizures, but that usually happens in the first 2 years, so maybe we will be lucky. His pediatrician tried to put the percentages into perspective, he said 90% of 45 cases is not as convincing as 90% of 4500 cases, there just aren’t enough comparisons for the percentages to really hold true.
Thanks to responses to this website and some more research we have gathered more information to pass along. We have found out that the seizures can develop as late as 10 years old. We think Chase had a febrile seizure in April, he was sick and running a fever and when he awoke in the morning he was very listless and it seemed as if the one side of body was limp, and his breathing was rather shallow. We called an ambulance but by the time they arrived he seemed to be doing better, but we transported him to the closest hospital to be safe. They don’t have a pediatric unit and after doing blood tests, a lumbar puncture, etc. to make sure he was stable, they then wanted him transported to another hospital that does have a pediatric unit. They ran their battery of tests and about 10 hours later we brought Chase home. He has been fine since then just the usual stomach virus etc. The biggest problem he has when he gets ill is his sensitive gagging reflex. We have a hard time getting him to eat or drink, as soon as he sees food or his cup he starts gagging. We’ve found that if we sit him in his little chair and turn on cartoons (golf, football and tennis work good too, I think it has to do with the color green) and sneak up on him so he doesn’t see the bowl or cup we can get some food in him before he starts again. He has been walking for a while, but we have to get him up and started by holding his hand. If he is standing he holds on to something, and if he wants to get somewhere else he’ll drop to the floor and he’ll crawl there, even if it’s just a few feet. His fourth birthday is next week and he gave us an early present. We were in the kitchen getting dinner ready and out of the corner of my eye I saw movement and when I looked it was him walking across the room to the patio door. He had pulled himself up in front of the TV and decided to go see what was going on in the backyard. It did our hearts good to see him take off like that, but I fear we’ll be getting a lot more exercise trying to keep up with him soon. He has braces to wear because his feet lean in so much, it looks like he is almost walking on the inside of his ankles without them. He is still in the early intervention preschool and he rides the bus by himself to and from school. He is much better with noises now although he still doesn’t like crowded rooms with a lot of noise if it’s a new environment.
We think Chase had another seizer today. I don’t know what else to blame it on considering his behavior. It was 5:00 am and he started making moaning noises as if he was waking up, he usually wakes between 5:00 and 6:00 am, so nothing unusual about that. Then suddenly he started crying as if he was in great pain, I went to his room to see what was wrong and he was in bed kicking his right leg and grabbing at his neck. I picked him up to try and calm him but he continued doing that. I took him out of the room and laid him down and he stopped but his eyes were closed as if he was still asleep. My first thought was Night Terrors. I had heard of children having really bad dreams and being that way until they awoke but, he wasn’t waking up. This kept up in cycles and wouldn’t stop. When he would stop crying his eyes were shut tight and he wouldn’t respond. He seemed to be in such pain during the crying cycle that we called 911 and had the paramedics come to the house. They said he appeared to be coming out of a seizure and suffering from the effects of it. They took him in the ambulance to the hospital and he continued those cycles until about half way there when he finally opened his eyes and started acting somewhat normal. The whole cycle lasted at least 45 minutes to an hour.
After all the tests at the hospital came back normal they felt that he did have a seizure and prescribed an anti-seizure medication until we can have him checked by his neurologist, but I doubt he will prescribe another course of action. Now our biggest concern is that the medication will sent him back due to the side effects which include drowsiness, double vision and dizziness. How do you know if that is a problem with a child that can’t speak? I guess all we can do is keep an eye on him and hope it doesn’t affect his progress.
Now the good news. Chase is now walking more than 50% of the time. He still can’t stand without pulling himself up on something but once he is up, he walks all over the house carrying his toys with him. We are working on eating with his spoon and fork and he is making really good progress on that. He really tries to get the food off his plate, and then into his mouth. Sometimes he misses the plate or doesn’t get any food on the fork and sometimes he gives up and drops the fork but, sometimes he gets it right.
And that is a wonderful thing.
We took Chase to Cedars-Sinai again in March for a 1 year follow up. There wasn’t any new information for us regarding MWS; in fact they told us that Chase was still the only case they had diagnosed. We did supply them with blood samples from his mother but couldn’t get his father to do the same (they had Chase’s blood samples from our previous visit). They told us they would grow DNA samples to send to France for genetic testing and also to Stanford University, where they are supposed to be taking on MWS as a research program. We still haven’t heard back from anyone yet, but they did tell us it would take time to grow the DNA and then have it tested. I guess the bottom line is no matter what the results are, it won’t change the outcome, but it would be nice to get the final results. The good news is the Trileptol seems to be working (knock on wood). Chase hasn’t had another seizure since the one in January. His overall health has been good also; his immune system seems to be growing stronger as he gets older. The only thing we notice is that one of the glands in his neck seems to be somewhat swollen most of the time, but it doesn’t seem to be a problem for him. Like one of the doctors told us once, what toddler isn’t fighting off some kind of bug most of the time, its part of building the immune system as they come in contact with new virus’ etc. Chase still has no speech so we have started working with him on the PEC’s system, (picture exchange communication) and he seems to be grasping the idea behind it, but as with everything else, it take so much repetition with him, only time will tell. He now walks about 80% of the time, although still a little awkward. One of his biggest problems is he doesn’t watch where he is going and trips on his toys on the floor and even bumps into walls etc. every now and then. He will be in preschool again this fall but next year he will be put into regular classes, which frightens me to no end. Normal children can be quit insensitive, especially when they don’t understand another child that is different from them. I wish there was another option but in Las Vegas there aren’t any other resources that we have found. We are also working on potty training. If we put him on the potty when he wakes in the morning or after his nap we can get him to pee (with a little help from a spritz of warm water) and sometimes he will poop, but he hasn’t gotten to the point where he will request to use the potty. I’ll say it again, repetition, repetition, repetition! The next thing we need to start looking into is a new bed for him. He is getting too big for his crib and we are concerned about letting him roam about in his room until he falls asleep. He likes to bounce in his bed for about 5 minutes before he goes to sleep and if he was not confined I don’t know how long it would take him to calm down and go to sleep especially being able to get into his dresser drawers or look out the window etc.. He also wakens in the middle of the night sometimes and plays for an hour or so and I can’t imagine how long he would be up if he had the run of his room. It’s hard enough to sleep on nights like that knowing he is safe in his crib let alone if he could get around in his room unconfined. I guess we would have to bolt the dresses to the wall and latch the drawer so he couldn’t pull one down on himself.
Well the waiting is over; we got a phone call today from Cedars-Sinai with the results from Chase’s DNA testing confirming his clinical diagnosis. It is a bitter sweet day. We finally have an end to our search for answers and need look no further, but it still doesn’t alter the future, it is just the end of this chapter. We still don’t know what the future holds for sure because there is no true map to follow. From what we have read it seems all of these kids develop in different ways and at different levels depending on the severity of their condition, so only time will tell. Now for good news. Chase can now stand from a sitting position without holding on to anything or pulling himself up. He also walks unaided 99% of the time although a bit unsteady at times and is getting very good at bending over to pick things up. He also drinks from a regular cup and manages not to turn it over on himself most of the time. His seizures also seem to be under control since he started taking Trileptol. He still has a very happy demeanor and is beginning to show a sense of humor. He knows when he is doing something that he shouldn’t and when caught he stops and runs away laughing, it is quite cute to watch. We hope this information is useful and will continue updating as things evolve.
Chase had his third seizure on Friday the 2nd of December. Once again it started as he was awakening, but this time from a nap, and Deby saw him convulsing on the TV monitor we have in his room. That lasted about 10 minutes and then the slow process of him coming out of the seizure that lasts about 45 minutes where he cries and is rather incoherent and nonresponsive. The ironic thing is that day was the fact that we had an appointment with his neurologist that day and ended up at the hospital instead. We have a new appointment this Thursday 12/15. In the mean time they told us to increase his medication. I don’t know if we had been able to go to the neurologist would have made any difference though because he hasn’t put on much weight since his last visit there and my understanding is that the dosage is based largely upon body weight. In fact his pediatrician has told us to start giving him some Pedia Sure or a glass of instant breakfast every day to try and boost his calorie intake and help him gain some weight. The amazing thing is that he has a great appetite and eats everything we feed him including a morning and afternoon snack on top of 3 meals a day.
We are still working with the PEC’S system, with no major breakthroughs, but he does seem to be trying to mouth some words. We did hear from a new contact in California that told us not to give up on the speech therapy because her son didn’t show much improvement until he was 11 years old and then started making great progress.
Not much progress on the potty training either, hopefully that will improve over time also.
We took Chase to a birthday party a few weeks ago at a pony ranch here in town and were concerned he would be afraid of the ponies. When we first put him in the saddle he was a bit leery but once he got going he loved it, he had the biggest smile on his face and he held on to the horn of the saddle so well it was amazing. Once the weather improves we are going to try and take him there on a weekly basis, I think it will be good for his balance and it’s worth it just to see him so happy. Well that’s about it for now.We would like to wish all of you a Happy Holiday Season!Dave, Deby and Chase
Chase had his 4th seizure today, not a good way to start off the New Year. He had gotten over his cold or virus from early December, but then came down with another. We took him to the doctor’s office on the 26th of December and he was diagnosed with a sinus infection this time around. He never had a high fever, 99.6 max, but was coughing due to his head congestion and having a hard time eating and was very gaggie. They gave him a shot of antibiotics and prescribed an antihistamine and more antibiotics. He seemed to be getting better by New Year’s Eve. Then on Sunday morning we put him down for his nap and Deby started to prepare some breakfast, she heard unusual noises from the monitor in his room and went to check on him, sure enough he was having another seizure. The same type as last time, twitching and incoherent, that lasted about 15 to 20 minutes and then when the twitching stopped he starting crying. He didn’t become coherent for about 30 more minutes and went through the usual cycle, crying and then still and silent, off and on again. We call 911 and took him to the hospital. The emergency room doctor told us that antihistamines lower the threshold for seizures for people prone to them. That was a hard lesson learned. So now we need to do some research on what types of medications we can use the next time he gets that congested to take the place of the antihistamines. We have an appointment with his ENT on the 9th so we plan on asking him what options we have.
I wish I was doing this for some good news for a change but that isn’t the case. Chase had his 5th seizure today. When he woke up this morning he felt a little warm so I took his temperature and it was 99.2 so I didn’t think much of it. He acted normal all morning, had a good apatite and ate a good breakfast. We put him down for his usual morning nap and all seemed fine. After a while Deby heard some unusual noises through his monitor and checked the video monitor to see what was going on. She saw that he was starting to convulse and went and got him up. He was still somewhat coherent and was making eye contact with her, but she still call 911. After a few minutes like that he became incoherent and went into full convulsions. When the paramedics arrived they put him on oxygen, did a blood sugar test and checked his temperature. He was running a fever at that point so they transported him to the ER. When the doctor checked him out he told us “his throat is a mess”. They did a strep and mono test which both came back negative, which was the good news. So we are guessing that while he was sleeping his fever spiked quickly and caused him to go into the seizure. I’m just amazed at how quickly this whole episode came about. The combination of being non-verbal and what seems to be a high threshold to pain makes it extremely difficult to know how these kids are truly feeling. I guess the only ray of light in these last 3 seizure episodes is the fact that all were brought on because Chase was coming with some sort of illness so hopefully once this cold and flu season is pasted things will return to normal.
This post is a little late in coming but it’s been a rough week. It started on Saturday night February the 25th. Chase had another seizure, once again he was feeling warm and he started getting Tylenol and Motrin to try and keep him from running a fever. He was put to bed around 8:00 pm but awoke about a half an hour later convulsing. It lasted about 13 minutes so he was transported to the hospital. It turned out he was getting another ear infection and apparently his fever spiked which caused the seizure to start. We got him home around 2:00am on Sunday morning. As usual they started him on antibiotics and kept up the Motrin and Tylenol to keep his temperature in check. Then around midnight on Sunday he awoke and started vomiting severely. He threw up everything he had ingested that day (which was very little) and then started throwing up a dark brown substance that had black spots in it. We were afraid it might be blood so we call 911 and once again they transported him back to the ER. Chase finally stopped throwing up around 1:30am and the doctors wanted to keep him overnight for observation and finally admitted him around 6:00am on Monday. They gave him antibiotics by IV and since he was still gagging they gave him Ativan because we couldn’t give him his Trileptal. The Ativan knocked him for a loop and we ended up in a heated debate with the doctors to stop giving it to him and let us try and give him his Trileptal, which we finally won. (He could hardly walk for 2 days after we got him home he was so drugged). Of course they wouldn’t release him until he would eat and drink so he spent Tuesday night there also. We got him to finally do both on Wednesday and they released him. The diagnosis was that he may have had some Gastrointestinal bleeding from all the vomiting and or the Motrin may have caused some bleeding in his stomach. Chase is home now and is doing fine now. We do have a lot of follow ups to do. We are taking him back to his ENT to have his tubes checked and replaced if necessary, and too see his Gastroenterologist to make sure there is nothing else wrong. Well that’s the latest for now.
As I said I would this page with something more upbeat, so here it is. The bad news is that Chase has been ill almost monthly. The good news is that since we have changed his medication, he has been seizure free. (Knock on Wood) He seems to get ill every 4 weeks, but since we have changed his anti-seizure medication he managed to make it through 4 bouts of high fever with no problems. His ENT wants to keep an eye on his tonsils, that seems to be the cause of the majority of his problems, and if he has any repeated episodes of tonsillitis over the next few moths, he suggests that we consider removing them. As he has discussed with us the benefits of the surgery, even considering the risks, out weigh the long term problems from the side effects of repeated seizures, and we agree with him. So we will keep you posted.
Chase is now getting ready to start kindergarten this fall, and just like when he started preschool, it is a time of excitement and concern. Developmentally he is still far behind and as he gets older the more acutely aware I become. I know we can’t try to measure his progress against other children his age, all we can do is take what progress he makes, as he makes it, and rejoice in the fact that he is making head way in a positive direction. Our biggest concern is what will happen as he gets older, as he grows he becomes a bit more difficult to handle. He is becoming too heavy to lift and more difficult to control, he has turned out to be quit a strong, but still rather skinny boy. I hope we can keep up with him. He is still the light of our lives and brings us joy in ways that are impossible to put into words.
We are still working with the PEC’S system with him but with limited success. It’s more of a game to him and he is willing to play for the time we have to work with him, most of the time, but he is not ready to use it as a full time means of communication. He has gotten rather good at using sign language to ask for eat, drink and more so that helps some. Well that’s about all for now. We will keep posting as things progress and we find the time. It is a bit harder to type up these updates now that he is very mobile, one of us needs to keep an eye on him at all times.
It wasn’t a good start to a long Thanksgiving weekend. Chase awoke around midnight so Deby went in to check on him to see what the matter was. She checked his diaper thinking that he might need changed, but he was clean and dry. So she got him up and gave him a drink thinking he might be thirsty. Deby said he didn’t feel warm when she got him up, but as he sat in her lap watching T.V. he began to feel warm. She decided to take his temperature and the thermometer just kept climbing. It topped out at 101.8 and she got me up to help give him some Motrin. Within 10 min. of giving him the Motrin he began throwing up and then he got a blank stare on his face and became unresponsive. We then realized he was going into seizure. It was quite different than seizures in the past, he wasn’t as convulsive as before, just his left arm was twitching, but for the first time he started to throw up during this one. It had to have lasted at least 10 min. and we were afraid to give him the nasal Midazolam because of the vomiting, so we called the paramedics instead. The other odd part of this time was, as he came out of the seizure he didn’t go through the crying stage that he normally went through in the past, and was very coherent and surprisingly happy. It has been 8 months since his last seizure, during which time he had been ill and run a fever with no ill effects, so we thought we had them pretty much under control. They checked his Depakote levels at the hospital and they were on the low side, so I’m sure we will adjusting his dosage when we get in to see his neurologist. We are sure that the combination of the low Depakote levels and the spike in his temperature were what caused this seizure. We now have a new symptom to look out for in the future seeing how differently this one started out. On the bright side he is making slow but sure progress with his PEC’s system and is starting to mimic a few sounds when prompted. We also found out that the Shriners offer speech therapy through their organization for a minimal fee so he now gets speech therapy twice a week.
Sorry for the long absence on this page but we have found that as Chase gets older he has become more demanding of our time and attention, not complaining, just stating the facts.All has been well since the last and Chase is growing like a weed. He goes to school full time now and really enjoys it. He rides the bus by himself both ways and also seems to enjoy doing so. At his last IEP Deby told the staff that when Chase gets home from school we always ask him if he has had a good day and what he learned. They thought that was a wonderful idea and created a PECS sheet that he brings home every day telling us what he did that day, what he learned and what he had for lunch so he can tell us now what went on at school. He really seems excited to do this every day.
On the behavior front he has started some bad habits. He is starting to try and bite; luckily so far they have just been more like nibbles and is pulling hair and pinching. If we don’t keep his nails clipped short, the pinches end up being scratches and he has a knack for somehow finding the same spots over and over again. We recently had an interview with a behavior specialist through a state funded program and are waiting to start having sessions with him. He told us that now is the time to intervene and start working on correcting this sort of behavior because by the time he would be 16 or 17 years old the bodily damage would be a lot worse and the behavior much harder to correct. So we are looking forward to getting started. We also discussed sign language and PECS with him and he had some interesting theories on both systems. The one thing that struck us most was regarding sign language. He explained that when teaching sign language one of the biggest mistakes made is teaching a child to use the sign for “more” before he has a good repertoire of objects he uses consistently. What happens is the child learns how to ask for more and then it becomes your problem to figure out what he wants more of, which can become frustrating for both of you. Chase is still working with his PECS book; he can get to it anytime he wants. There are a lot of times he will ask for things he already has and times when you give him what he asks for it’s not what he wanted or thought he was asking for at the time. It can be frustrating at times but you have to look at the big picture and hope that as time goes by he will become more proficient using the system. He does have a V-Tech video game that we got him a few years ago that he is finally, after all this time, starting to understand that the buttons on the console make things happen on the television screen. He now actually plays with it instead of ignoring it. To see that happen is encouraging, watching him finally recognize the cause and effect for the first time is very satisfying.
Health wise Chase has been illness free for a long time. We did have a bout of strep throat about a month ago. We took him to the doctor because he was not feeling well and when they checked his throat said it was a mess. They gave him a shot and sent him home. About 2 weeks later he wasn’t acting like his normal self. He was sleeping in late and falling asleep very early at night. His appetite was very poor and he started having diarrhea to the point that his bottom was getting very sore. We took him back to the doctor and sure enough he had strep again, or more likely never got over the first bout of it. Once again they gave him a shot, only a higher dose this time, and he seems to be fine now. Speaking on the sore bottom front, (excuse the pun) we have started giving him Benefiber twice a day in his drink and it has done wonders keeping him regular and his butt rash free. We used to go through bouts of diaper rash that were unbelievable.Well I think that is all the latest. I will try and update more often.
So here is the latest info since our last post. I know it has been a long time, but as I said before, now that Chase is older and very mobile he demands much more of our time and attention.
We are finally making the transition of getting Chase back with his mother fulltime. It is going much better than we expected. At first he would not go to sleep at his mother’s house but has since gotten over that and is keeping his normal schedule. Chase has two younger brothers. One is 2, the other 5 months. We have had some problems with his behavior where his siblings are concerned. He pulls hair, pinches and hits. I don’t think he does these things to purposely be mean, I just don’t think he knows how to play appropriately. His older brother loves him and tries to involve Chase in everything he does. He is getting pretty good at dodging the attacks. He makes Chase laugh and Chase truly seems to enjoy being around him. Now that they are living in the same home, the problem seems to be getting better.
His bouts with strep throat and ear infections continued to be a problem so his ENT finally decided to take his tonsils out in November of 2008. Needless to say that was a traumatic experience for all of us. He was in the hospital for 4 days. They always want him to drink first, but he was getting IV fluids so he wasn’t thirsty. Deby made them stop the IV. When he still refused to drink, Deby suggested they try some soft food like pancakes, which he also loves, and they brought him a plate of pancakes, scrambled eggs and a muffin and to all of our amazement, he ate all of it. Then he drank his milk and we were on our way. He has had no strep and only one mild ear infection since, it has been a blessing. We just wish they would have done it when he was younger. We did learn an invaluable bit of information regarding children’s Motrin though. We always had a hard time getting him to take two droppers full of Motrin at one sitting. The second one would almost always make him gag and throw up. We tried to do Motrin chewables, but they made him gag too. We told his ENT this because we were concerned about keeping him as pain free as possible after the surgery. He told us to use infants Motrin because it is twice the strength of the children’s and we could give him half as much! We were almost livid that no one had told us that years ago even after mentioning it to his doctors on several occasions.
As far as his regularity goes, the Benefiber quit working after a time and we now are using MiraLAX to help keep him regular. It worked great for a while also but now it too can be hit or miss at times. We have found a great product for dealing with his diaper rash when it flares up, it’s called Critic-Aid Skin Paste by Coloplast, and you can find it on the web. We highly recommend it.
As for communication I have set up a touch screen computer in our living room with PEC’s pictures for eat, drink, movies and games. He uses it mostly for requesting snacks and is very adept at finding his way to the food page. He has learned a few more signs also. He now uses cracker, please, bread and cookie. Even though he is nonverbal he still comprehends much more than you would think. I drive a Ford truck and he loves to ride in it. If you say to him “do you want to go for a ride in Papa’s truck” he gets all excited and runs to the door and straight for the truck. Same with him and his swing. He loves to swing and if you ask him if he wants to swing he runs for the back door and then to his swing, same with swimming.
He is getting better at eating with utensils, we got him a fork and spoon with large diameter handles. We still have to keep a close on eye him though because he will grab things off his plate with his hands and stuff it all in his mouth.