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March 19, 2008

S thrives in routine too, especially at bedtime. We do the same thing every night. Hers is a more drawn-out affair than our other children because she has a longer series of events that happen in the same way each night and it takes her longer. Also, we have her in a room with as little distraction as possible. Initially she had a typical child's room with books, toys and stuffed animals. Over time we have removed most of those things from her room. Her room is for sleeping at night and at nap time. We tuck her in, then turn off the light and close the door to a pitch black room. The night light or door cracked option didn't work with S. She just saw that as another opportunity for distraction. What you actually do isn't as important as having a routine. The one thing I have learned though is that the more stimulated S is, the harder it is to get her calmed down. So for bedtime we try to choose very relaxing things that don't overwhelm, challenge or stress her in any way. For instance, brushing her teeth used to be a MAJOR ordeal and work her up tremendously. When we had this as part of her bedtime routine, like we do with our other kids, it was bad news. She would get so worked up over the teeth brushing that it was very hard to calm her down. We started brushing her teeth shortly after dinner instead of near bedtime and that helped with the stress level at bedtime. Now brushing teeth is quite easy for her and she asks to brush her teeth with her brothers just before going to bed, but that was a process over many, many months. Part of S's nighttime routine is a bath with a favorite few toys. If I need to wash her hair I don't do it at her nighttime bath. This still is a very big issue for her. I will give her a bath in the morning to wash her hair rather than working her up at night just before bed.

D, too, has had broken bones. In 2002, then in 2004, he broke his left leg. The first time was a tib-fib break when he was bouncing (not jumping) on the trampoline. He literally was bouncing maybe only 5 inches high, but it just took the wrong angle, and I heard a loud "SNAP", and down he went, and just lay there. He didn't cry or anything, but he got a green tinge to his face, so I knew it was bad. Both the bones in his lower left leg had broken, which is usual. It looks as though he had had a bone cyst, which weakened the bone, and allowed it to snap.

Flash forward two years, and D was just wandering around the backyard, slapping his basketball between his hands. Unfortunately, I didn't see this, as I was in the house for a minute, but D simply tripped and fell forward, and broke his upper leg (same one), just a few inches above the knee. There was a small flat rock buried in the ground in front of him, with just an edge sticking up slightly, and he must have hit it at just the right angle, and hit another bone cyst. I heard him calling MOM, went out, and there he was, lying on the ground. No tears, no carrying on, but that green tinge to the skin. I called the ambulance, they didn't think there was much wrong as it was now swollen above the knee, but I insisted they treat it as a break, and take him in. Sure enough, it was snapped right through, and required two pins. They were another problem: when they cut the cast off, we discovered one of the pins had come down and was sticking through the skin. In to the OR he went to get it removed. About six months later, the second pin started travelling down and got to the knee joint. Back to the OR to have it removed.

He recovered fine from the breaks, but I can still see a difference between his right leg and the left (broken) leg. The muscle size has never come back completely. His leg was x-rayed a year later, and there don't appear to be any more cysts. This is something kids can get, then grow out of.

Moral of the story: always trust your mother's intuition, and look for the less obvious signs that something is wrong with your child, since they don't cry or carry on like other people will. For D, the tell-tale sign is the colour of his skin. It literally turns green when he has an accident like this, or when he goes into a seizure. It's always better to feel foolish for making a big deal out of nothing, than to feel guilty because you let something go for fear of looking like an over-protective Mom.

The greatest benefit my little girl (with Kabuki) S has had from a computer has come from access to the web. Since aged about 6 she's had unfettered access to a computer, and even before she could spell she found bbc.com for herself and played the kid's games - and even though she's now 14, still goes to bbc.com every day. Her spelling isn't brilliant, but since aged about 9 she has attempted to communicate via instant messaging successfully, though we initially had to use a lot of imagination to figure out what she was trying to say.

Now, she is quite functional at MS Word and other programmes, and knows her way around the internet, which has been essential to give her the variety to keep her engaged. This is opposed to educational software and games we purchased, which only held her attention for limited times and were very expensive. Due to all of this, her participation in IT at school places her at the top of her class, which is essential for her self-esteem since she knows she isn't good at other subjects and gets very upset about that. Having one thing where she can compete gives her hope, and the computer is one of her main tools to help her communicate not just with family, but also socially.

We have been searching for another bike option for Tara. Till she was about 12 or 13 years old, we pulled her in a basic collapsible bike trailer - the type you now often see families pulling small children in. When she outgrew that, we purchased a trail-gator tow bar which fastens to the bottom of my bike (under the saddle) and to the steering wheel post of Tara's bike, thereby lifting her front tire. That worked well for several years. But now, at about 80 lbs and 4'11" she is getting too heavy and tall for this contraption.

Tara does not have the balance required for independent riding and MOST definitely does not have traffic awareness. I think her nystagmus is partly contributing to this problem, but mostly it's her sensory dysfunction. And yet, biking is one of the few activities we can do with her that is fun. So....

We considered another collapsible bike trailer, the kind you simply sit in, that you can buy especially for children with special needs (and can therefore handle the increased weight of the child/adult). But we prefer that she actually needs to some pedalling.
We've also considered the type of bike that has no front wheel, only has one rear wheel, and attaches to the adult bike under the seat. But the weight restrictions on those are 80lb. It's not a problem that the trailing bike can't hold more weight (it's a sturdy enough frame) but the problem is that the increased weight would put a lot of strain on the connector to the adult bike and also cause balance issues for the adult.

So now we are looking at a "caboose trailing bike", similar to a one-wheeled trailing bike mentioned above but with the difference being that the back trailing bike has 2 rear wheels. It's basically like pulling an overgrown trike without the front wheel.

I have uploaded a photo of the "caboose trailing bike" , along with numerous other options, to the mailing list website - click on the photo options and then select KK Gadgets. Or simply copy and paste this link http://health.ph.groups.yahoo.com/group/KSN_L/photos There you will also find a unique bike option used by a family in Georgia, I believe. If your family is using a piece of equipment that has made life a little easier or enjoyable, please let us know and send Jon a photo to upload to the mailing list site!!

To the question- are all of our children happy and love people.....

I think that even in this area, all of our children are different. My C is very sweet and gentle, but he has spent most of his life crying and screaming. He is doing much better at almost 7 years old, but he is still very moody. Things set him off easily and he will start crying and pinching or hitting himself (he often looks like a leopard with all of his bruises). He tires easily and can't handle too much in general... transitions, moving around, being out and about, noise, sunshine, wind, baths, being held, riding the school bus or riding in the car, having too many people around, therapy, etc. C can do nothing by himself (except for self-stimming, sitting up and a tiny bit of scooting- and of course enriching our lives- which is a huge thing!). Life is very difficult for him and as a result, he is usually wound pretty tight and frequently lets us know about it! It is hard to say what C's personality is actually like behind all of the pain, but as things stand, I wouldn't describe him as happy-go-lucky. And, we probably aren't alone. I'm sure there are a number of kk's who do not have a happy, sunshiny disposition- either because they have major difficulties or because it just isn't their personality.

From what I can tell, the majority of KK's are mildly affected, but there are many out there who are at varying degrees towards the severe end of the spectrum. Because of the numbers and the fact that those of us at the severe end have a hard time relating to the rest of the group, we hear mostly from families dealing with cases that are middle of the road to mild. Just realize that there are many facets to Kabuki... there is no neat little description. Some children have major physical problems, but have strong cognitive abilities. Others are very healthy, but extremely delayed mentally. Some have seizures, sensory issues, anxiety and ocd, some walk, others do not.

I'm not trying to be a downer to the group, but rather just trying to be real. Sometimes in reading the e-mails, I just feel like no one in the group has a clue what we are going through (and I know that I don't fully understand your situations). And if we as Kabuki parents want to truly understand the syndrome and everyone touched by it, you have to hear the truth of it. Whenever people write in asking desperately for encouragement and to be told that the future for their little one is going to be o.k., I really feel for them- because I wanted the same thing when C was diagnosed. But I have never answered them because our story would scare them to death and really put a damper on things - and that wouldn't be very nice. At the same time, I feel like yelling it out... there are no guarantees and no one can tell you what your child is going to be like! It might be o.k., and it might be really terrible! Luckily, many of the people writing in for that first contact and bit of encouragement describe children who sound more mild (even though it feels scary and like a huge mountain to them)... and so many of you have been able to give them encouragement. But it just makes me feel like we are denying the other children and families in this boat who are suffering or have suffered greatly (or who will join us on this road). Hopefully, I am making some kind of sense!

Sorry this is so long and has turned into an entirely different animal than it started out as. I guess I have had all this inside me for a long time and just needed to share it with the group. And... this is also for those of you out there who feel like me and spend a lot of time lurking because of it... I want you to know that you aren't alone. I want you to have words you can identify with... and maybe give you some peace. And one more thing.... no matter what you are dealing with (everybody), be it mild or severe, I know it is hard for all of us! Just feel blessed to be where you are at and to have what you have been given.

Thanks for listening

With a KK son of 14 years old, I thought some of you with younger children might be interested in some of our experiences on this subject.

D has, up to this year, always been in a regular school, in a regular classroom, with a one-on-one Aide, and with withdrawal to a special classroom for intensified work. In the beginning, ie kindergarten, he spent the entire day in the classroom with the group. He would love to watch the other kids, and sometimes engage in parallel play, but he didn't really interact with them that much. It didn't seem to matter though, as he appeared very happy.

As the years have gone by, D has been spending less time in the regular classroom, and more time in the spec ed room. He is easily distracted from his task, sometimes engages in noise-making attention-seeking behaviour which would be disruptive to others, and is on an individual program which has nothing to do with what the other kids are doing. I've always said he was like an island in a sea of kids - physically integrated with them, but in reality, isolated.

He has just finished Grade 8, and next week is off to a new high school with a self contained class which focuses on life skills. For once, he will be with a group of kids who will really be his classmates, instead of kids who sit in the same class as him, and occasionally toss a basketball with him at recess time. Mind you, up to now, the kids have been wonderful, but let's face it, they're into music, video games, even dating, while D still wants to watch Elmo's World and play with his Little People. He has more in common with a 4 year old than a 14 year old.

So, my views on integration have changed over the years and through experience. As a concept, it is wonderful, but in reality, it will always depend on the individual and their situation. Too often, integration is just a word. Being in the same room as a class is not the same as being part of that class. There has to be some kind of meaningful interaction, and I'm afraid that as the gap between D and his age peers has widened, that interaction has shrunk. So now I'm looking forward to him being part of a "segregated" class because he will truly be part of that class, and form relationships and hopefully real friendships. And I've found that class is really accepted as being part of the school community - doing their own thing, but still part of the school as a whole. I'm really optimistic things will work out for D.

And a quick comment on siblings. D has an older sister, and I can really relate to the heart searching over how much do we ask of the siblings. It is a real balancing act to meet your KK's needs while not neglecting your other children, or expecting too much of the siblings. I've always tried to just ask of S what any parent would ask of an older sister: occasional babysitting, watch your brother while I cook supper, etc. And I sometimes ask her to play with him. But I've always wanted to avoid having her feel like he is a burden, so I've never asked her to take him along with her when she played with her friends. And so far, I think it's working. For the past two summers, she has spent every Wednesday evening volunteering to coach the special needs soccer team we created, and this year she brought on board a number of her friends. It's great when they help out on their own initiative, not because they've been asked or feel guilty. As far as D's future, we plan to make sure he is financially secure and in an appropriate home (probably a group home of some sort), and all we will hope of S is she look out for her brother, visiting him and making sure he is well cared for. Kind of like what I am doing right now for my 82 year old mother.

Sorry for the novel on this subject - maybe I was a writer in another life.

Before testing for growth hormone deficiency, your endocrinologist will take an xray of your child's hand to determine his bone age vs. his chronological age. If they're significantly off he/she will recommend testing for GHD, Growth Hormone Deficiency.

The testing is pretty intense in determining whether the pituitary gland is producing growth hormone. As L said in her last email, they put an IV in your child and give him a drug to force the pituitary gland to produce growth hormone. The drug is administered and a blood draw is taken every 20 minutes through the IV for a duration of four hours. The IV allows them to both administer the drug and draw blood many times without having to poke them each time. The blood is then analyzed for growth hormone.

J's pituitary was normal size, but was producing almost no growth hormone whatsoever. This explained his not growing taller, but growing wider. He too put on 20 odd pounds within a short period of time. J has been on growth hormones for about 2 years now and has grown close to 8 inches. His weight has become consistent with his height.

There were two side effects of the growth hormone therapy, which are rare: 1. growth plates slipping and 2. pressure on the brain. The pressure on the brain would cause headaches and vision blurriness. (You can get more informiation at Genotropin.com.) Don't let that discourage you because stopping the therapy will immediateley reduces the pressure. If your doctor is conservative in giving the growth hormone, you shoudn't have any problems with the growth plates slipping.

It is important to note that growth hormones will only work while your child has NOT gone through puberty. Once puberty hits, growth hormones will stop working. We made the mistake of waiting too long to have J tested. We probably could have been on GHD therapy for two additional years before we started. I would suggest that you get your information directly from an endocrinologist. Not a pediatrician or a genetecist. While I have great respect for them and they're usually our first step in seeking information for our children, we can't expect them to be experts in all fields.

J is now 15 and we just had him tested to see what levels of testosterone he is producing. At this point, his testosterone production too is almost nil. We will start testosterone injections within the year. This will also give him a boost in his growth, but on the down side will force him into puberty. Again, at that point the GHD therapy will no longer work.

I know a lot of you are going to say that you don't mind your child being small and why put them through this and society should just accept them the way they are etc... When they're younger and are in elementary school it's a lot easier to take that attitude. But when they're in middle school and high school, which Jonathan will be starting in September, being small and looking like you still belong in the 5th or 6th grade can be an emotional hell. As our kids move onto middle school and high school, they encounter others who haven't grown up with them and haven't accepted them for what their lives have been. All they see is a little scrawny kid who they either think is some kind of defect, or my personal favorite, a genius who has skipped 5 grades and went straight to high school after the 5th grade because he can't possibly be 15 years old. This all hurts, but the hurt can be lessened through these therapies.

As for the nightly injections. It's no big deal. The shot is just like an Epi Pen. The needles are so fine that he can hardly feel them. Combine that with our children's ability to tolerate more pain than most and it's not so bad. It's harder on the parent than on the kid.

And remember if you want success for your child,
Prepare the child for the path, not the path for the child.

July 24, 2005

I forgot to mention one thing in my email about growth hormone and testosterone therapy. We were informed by our endocrinologist that there is a window in J's growth development that we need to catch for the testosterone injections to work. . If we miss that window, puberty will not only be delayed, but won't come at all.

Unfortunately, even if the growth hormones are working at that time, we will need to forfeit more growth so that his body will accept the testosterone and mature.

Hi - I'm new to this message board and apologize if this is a topic you all have dealt with already. I have a 3 yo son diagnosed w/ Kabuki in June. The previous summer he was diagnosed w/ having a combined immune deficiency disorder - mainly low IgG, although his T-cells are a little messed up, as are a few of his other immunoglobulin classes. The immunologist suggested starting IgG replacement therapy every 4 weeks - we have not done this as J started having fewer infections (eye, ear, upper respiratory, and skin infections). Also, J has horrible veins and the minimum course the docs like to do is 6 months of this therapy - which means we would have to have a porta-cath implanted in J's chest to provide IV access.

J's home from school today, with a cold, and has surgery on Monday to have new ear tubes (4th set) and lots of blood work completed. I worry now that he's in school that he will be exposed to so much more and will be sick more often. He's already behind, I hate to have him miss lots of school.

Has anyone dealt with this - really curious if anyone's child has had the immune replacement therapy. How did it go? Did you have an implanted IV placed?

Nov 10, 2004

How did you know to show up today???? My 15 month old daughter, C, has low IgG issues. We are starting with IVIG therapy on the 22nd. She has horrible veins and they have a hard time starting IVs so we are thinking of getting a porta-cath too. Also when she is ill they can never get enough blood to do all the bloodwork she needs.
When we went and saw the immunologist on Monday C had a raging ear infection. They couldn't even see the tube in one of her ear (they have been in since June) so we are going to have to look into that in a few weeks.
Unfortunately it looks like I am at the starting point of all this too so I don't have many answers but there are others on here who have gone through IVIG (some have not been very successful) so maybe they can help.

Nov 10, 2004

If you don't mind, a tip from an older mommy who has been there: Find someone good at poking them, and keep them! Ask the nurses at the hospital you frequent- they'll know who they'd trust with their own child. IV therapy is usually a good place to start, but not always.

Remember, too- IV infusion clinic is a different world. All they do, all day long, is start IVs in people who are hard to stick. They're really good, or they don't last long in that department. They also have better gadgets, since they're so specialized (smaller needles, better delivery systems, etc.) I strongly encourage you to start the immunotherapy without the cath, at least the first one or two times. Get a feel for the staff nurse, and how well he/she does. They'll tell you if they feel a port is necessary. They don't want to hurt your child any more than you want them hurt. They are specialists in this field (more than the immunologist is, as far as the actual stick goes) and they really ought to be consulted before the port is determined to be necessary.

Has anyone else considered what our kids are to do when it comes time to pass a high school graduation exam or college entry tests? I do plan on my son going to some type of college so he will have to do both of these things at some point. We are learning how to do "math in our head" and we are reading slowly so it appears our biggest obstacle when "test" times comes in several years will be hand-writing.

Nov 9, 2004

I'm pretty positive there are special accommodations for "special needs" children when it comes to graduation. I also know they can go to high school past the age of 18, which I won't mind my son doing since he is so small anyway and know one would know the difference and he loves school. I don't believe they have to pass any certain tests.....it's all what's in their IEP's. As of now, my son doesn't even take those state standardized tests (he wouldn't even begin to understand them beside the fact they are WAY above his academic level). It all depends on the childs individual needs. They will graduate and can go to a college, but with "special programming" again, based on their IEP's and individual needs. I would love for my son to some day be a teacher or something but I'm thinking realistically he will more likely be a teachers aid or maybe work in a daycare as a "helper" (he LOVES babies) which would make me just as proud. He doesn't quite understand his "abilities" or should I say "disabilities" and says he wants to be a doctor or a football player but, for instance, would be impossible due to his inability to run faster than a snail (just kidding, he can run a little faster than that) but this is just one example. He also talks about having a wife and "getting" a baby (he doesn't know how babies come about yet just that they grow in your tummy. He thinks you can "get" them at the store and from there I don't know how he thinks they get in your tummy). I'm thinking he really doesn't need to know yet exactly how they are conceived. Anyway, I don't realistically think he would be able to fully care for a baby with his "abilities" and I, for one, would not like to be a grandmother of a Kabuki child. I'm getting my fill right now. One of the things in his IEP right now is that they are teaching him to have more realistic ideas about what he may or may not be able to do in his future (like being a football player is probably not a realistic thing for him).

Anyway, sorry for rambling....hope I made sense. I know what I was trying to say but don't know if it came across the right way. I love my son dearly and hope the best for his future, but I have to have realistic thoughts myself just as we need to teach him the same. As we have all read here, all of our kids have different mental abilities so they will all reach different academic/career levels in their lives as well.