Merry Christmas!!!

Can you believe it, Christmas is done and dusted already. I look forward to it all year, I love the preparation, the excitement, the plans, the gifts, the food, the vibe, the family-time, the lull in city-life, everything. And then it's over, just like that. But, it was fun!! So much fun. We had a fabulous holiday so far. Something we desperately needed. Just to forget about thinking worst case scenario's when looking at our middle 2 children. Just for a moment. It's never far from the mind, but for a few golden moments in time, it was good to really just forget. And be a normal family, with normal, healthy children without any swords hanging over their heads.

The kids went to visit their granny and grandpa for a week. They were spoilt rotten and had loads of fun. Though, Monkeyman was very tired, and it made him a bit teary. I also think he missed us. We phoned every night, and asked if they're okay to stay the week or if any one of them needed us to fetch them. But they said they were fine. The boys didn't want to stay longer than the planned 6 nights, but Boeboe wanted to stay one more night. That was good to hear, that she had a really good holiday. We missed them though. The house was quiet without them. Peanut was still with us, which was nice. She also missed them alot, and loved hearing their voices over the phone every day.

When the kids got back, we dived into the mess they called their rooms. Gosh, it took us forever. But their rooms are cleaned, most toys are sorted and new bedding and curtains hung. We decided to give up our spare bedroom, to Mr N. So he moved in there, and Monkeyman got his room. Boeboe stayed in hers. And Peanut is at long last out of our room (sniff sniff). My baby is growing up. :-( She's now happily sleeping in her own bedroom (Monkeyman's old room). Still waking up at night, at least twice. But we're coping okay with that.

So each child has their own room now. We bought bunkbeds with the bed ontop of a desk, for Monkeyman and Boeboe each. Mr N has less stuff in his room, so he got the double bed that came with the spare bedroom. And he has a lovely desk that his grandfather made him years ago. So they're all set now with bed, table and lots of space for everything. I got them all new duvets, and a few new curtains. So their rooms are looking SO GREAT! Wow, the difference a sorted house does. It just lessen the stress levels. I haven't taken pics of the rooms now that they're done. I'll do it in the next few days and post some of them.

After our week of cleaning and sorting, the in-laws visited for Christmas. We had a really great Christmas Eve, with good food, and the kids got to open some gifts. On Christmas morning they found gifts brought by Father Christmas during the night, and then we visited some more family for a wonderful Christmas lunch. Today, the in-laws has left again, which now leaves us with a quiet, relaxing week to look forward to before my husband has to go back to work. Fortunately, we have almost 3 weeks left before school starts again.

Here's some pics of the past month or so.

Here's a pic of Boeboe's spider bite. Probably around day 10 or so.
It was taken about 2 weeks ago, before they went to visit the
grandparents.

A close-up. All the wrinkled skin has now fallen off, and brand
spanking new skin is covering her toe perfectly. No lasting
damage or scars. Even the nail is perfect. For a while there
I thought she was going to loose the nail.

Isn't this the most adorable thing. Sibling love. Whenever he
sits on the floor, she will maneuvre backwards until she sits with
her back against him. She really adores all her siblings
just so so much.

 

Monkeyman didn't know he's also getting a new bed and desk.
He saw us put Boeboe's up in her room, and was so jealous.
So we surprised him one morning, leading him blindfolded
into his new room with his new stairs and bed all set up.
His face was priceless!!

On Christmas Eve. Very happy with his gifts.

She was so excited all day, she could barely wait for dinner to
finish.

Another happy child. :-)

Isn't she looking adorable with the Christmas cap?

 

Spoilt little boy!

He really wanted the little Dath Vader figure.

Loved tearing the paper off!

On Christmas morning! Father Christmas was here!

 

Look at how creative her daddy is. He made it look like a
little gift basket! All three got the same gift, so we had to try
and wrap them up differently so that the shapes didn't
give it away. They really thought they were all getting
something different because we made Boeboe's look like
a basket, and Mr N's like a house. Only Monkeyman's
was kept as the rectangle it really was.

So excited to start opening up.

Look mommy, a baby!

He loved being tricked with loads of newspapers to
change the shape of his gift.

Very chuffed with getting what he wanted from Father
Christmas - a tablet.

Smiles all around when everyone got one.

Except Peanut, she got a talking, singing, dancing baby doll,
which she absolutely adores.

 

My beautiful little girl. Not much bigger than her doll, LOL.

This is how it looks when everyone gets a tablet for Christmas!
There'll be strict rules in place about how many hours they're
allowed to play once school starts!

Dilated Cardiomyopathy, White blood count and Lungs

That's the 3 things wrong with our little boy. I'm sorry I haven't updated the blog shortly after our visit on Thursday. I've been a little numb. Not sure what to say, you know?

So here's the short (and long) of it:

• Monkeyman's left heart function (or ejection fraction) is up from 34% in September, to 36% in October and 42% in December. So that's excellent, really excellent news. Yay!!!
• The left wall is unchanged. Still too thin. This is called dilated cardiomyopathy, but, since his left heart isn't enlarged, and his right heart is almost back to normal size, he's technically not in cardiomyopathy yet. He's not in congestive heart failure, in other words. But, he has heart disease. Or a heart defect. Whatever you want to call it. His heart muscle is damaged permantently, and won't ever recover again. No medication nor surgery can fix this.
• His blood tests have been abnormal twice in a row, 2 months apart. No changes or improvements. His Leukocytes, neutrofils and if I've heard correctly, lymphocytes are all abnormally low. And his transferine is too high. The cardiologist doesn't want to elaborate much on this, or she doesn't know what it all means, and has referred us back to the pead for end of January.
• His lung x-ray still bothers her. She's not happy with it showing something twice in a row either, without it being clear what's wrong.  The radiologists said it's either infective, or cardio-vascular in origin. Infective would mean swollen lymphnodes in the lungs, and the cardiologist can't find any on the echo (sonar). And to rule out cardio-vascular we would have to take Monkeyman for a scan (probably MRI), but she's not ready to put him through that trauma yet. So we're repeating the x-ray in January and take it from there.
• She still believes everything is due to an underlying mitochondrial disease. That it causes the tiredness, caused the damage to the heart wall, etc.

So the plan of action is repeat the x-ray in mid January after the school holidays. Then see the cardiologist for a last, wrap-up visit. Then we'd go see the mitochondrial specialist she's referring us to. She'll give us a reference letter with our next visit. And we'll see the pead, maybe also repeating the bloodtests. And, if the cardiologist feels it necessary, we'll look at doing an MRI around February. Thereafter, we'd only need to see her yearly, to keep an eye on Monkeyman's cardiomyopathy. Currently, he's stable. This can change at any time in the future. It's difficult to wrap my mind around suddenly being the mom to a heart-defect child. He's not allowed to play rugby, hockey, run long distance, climb mountains, etc. No high impact or extreme sports.

There's some updates I need to do on Boeboe as well. But I'd get to that later on in the holiday. For now, the most important thing, is that she passed!!! Boeboe passed grade 4!! We're so, so very happy and relieved and ecstatic. So for now, we're keeping her in mainstream, hoping and praying that with the same hard work, dedication and help from the teachers, we can pull her through grade 5 as well next year.

So, we're enjoying the summer holidays. Yesterday, we took the 3 eldest kids to their grandparents for a week of fun, swimming and being spoilt rotten with treats and dedicated time! I'm so happy for their sake that they get to have these holidays with the grandparents. I never had that, but I can see how much it means to each one of them. We don't like not seeing them for a whole week, not at all. The house is quiet, empty, too neat. Poor Peanut is really missing them as well. She loves talking to them on the phone though! I'm trying to spend more time with her, and also trying to organise the kids rooms. It helps, keeping busy. I can't dwell on things too much, not yet.

My unlucky daughter

I don't really believe in luck. Or that everything is coincidence. But gosh man, this daughter of mine must be one of the unluckiest people ever!! Can you believe this...

She had ANOTHER spider bite!!

In less than a year, 2 spider bites. I know we live in a wild country with pretty amazing (read awful) bugs, some very poisonous, but most people live all their lives here without ever being bitten by one. Like me, so far.

This poor child. She looked forward to her merit outing at school so much. All the "good" kids that wasn't naughty throughout the year, were taken to this resort for some fun in the sun. I'm sure most of you are wondering, how can a child that's oppositional, defiant, throwing tantrums, trouble controlling frustration and anger, etc., like Boeboe, be one of the rewarded kids. Well, that's the irony of Boeboe. Whenever she doesn't feel completely safe, she won't show her normal character. The one teacher described her as "stoic", and that was a perfect description of her for me. She has about 4 "stages". Firstly, there's the stranger stage. When she's amongst people she doesn't know, or doesn't know well, or doesn't trust enough. Like other kids in the class, teachers, etc. She'll be painfully shy, she won't show any emotion, she won't smile, laugh, talk, react, nothing. She'll listen, she'll look, and she'll do the absolute necessary like doing her schoolwork. Then there's the 2nd stage, which is preserved for small groups of close friends and family. She'll still be very shy and quiet. She'll still not be as happy and dancing and being as loud and talkative as she usually are.

The third stage is reserved for those she loves and trust implicitly, but whose opinion still matters more to her than her being herself. Does this make sense? The only people belonging in this stage, are her grandparents whom she sees regularly. Usually, they sleep over or go on holiday with us, which makes it impossible for Boeboe to completely hide her true self for days on end. So she's opened up in front of them, and hats off to them - they stayed loving and accepting and supporting. Which sets her more at ease, leading to this point where a special stage was created just for them. Other people will come and go in this stage, depending on how much time we spend with them. Like some family we see regularly. But it's usually reserved for the grandparents.

The last stage is of course, being at home with her own family. Her brothers, sister and parents. Here, she can be completely at ease. Completely herself. She can throw tantrums in absolute abandonment. She can scream and rant and get all the frustrations and anger out of her. She can talk about the paranoia, the grandiose feelings, the horrors of her life. She can giggle like a 5-year old and not feel judged. She can jump up and down in true joy and not have a care in the world that someone's watching. She can babble to her heart's contend and laugh when we tell her to be quiet for just 1 minute so that we can get a word in! Such a joy to have at home, pity she can't show that side of her to others.

Thus, in school, she's stoic, emotionless, and the pefectly good kid. The type of child every teacher want in their class. The reason why she completely dissappeared from the teachers' radars. Why her Afrikaans teacher didn't even notice her failing. Why her math teacher didn't realise she doesn't understand, isn't taking anything in, and was under severe pressure.

So as a good, quiet, non-disrupting kid in class, she was invited to the merit-reward outing. And somewhere there, she stepped on or close to a spider, and it bit her in the corner of the nail of her pinky toe. How unlucky can she be!! Fortunately, she complained about extreme pain so much that in the end I realised it wasn't nothing, and gave her an anti-inflammatory which helped a lot. Unfortunately, I only realised we're dealing with something more than just a bumped or "winter" toe by 8pm. She must've been bitten by 11am. By 2pm I had a look (after fetching all the kids from school and giving them lunch) and the toe was slightly red and a tiny little bit of goo in the corner of the nail. By 8pm, there was a small yellow fluid-filled blister. She convinced me that her toe was already hurt the evening before, so I calculated that timewise we've had this for 24hrs, so I thought it okay to wait another 12. She was already in pj's, in bed and sure about her timing.

Afterwards I realised she must've been wrong, and it must've been a spider bite that happened about 11am at the outing at the resort (that's about when the pain started). I should've taken her to the dr that first night. I just put bactroban (antibacterial cream) on, which took care of the angry red look fortunately. And gave more anti-inflammatories.

By next morning, it looked awful. Bigger blister, very swollen. Skin very tight. The dr said it was either a bug that sprayed her with chemicals, causing a chemical burn, or a spider bite. The blister continued to grow in size and spread lower down on the toe for 5 days, so I'm pretty sure it must've been a spider. A burn doesn't spread over 5 days, does it?!

Fortunately, the antibiotics, steroids, steroid-anti-bacterial cream, and anti-inflammatories that was prescribed seemed to have (almost) healed it by now (day 6). She's doing well, and is on the mend. Thank God. She was in so much pain, poor poppit.

And of course, we were on our way to leave on holiday! Fortunately we only went outside the city, not far to drive, so going to the dr didn't held us up too long. We had such a great holiday. Short, but fantastic. We all needed to go away, spend time with family, relax, and forget about the stress of the past months.

Tomorrow, school closes formally. I'm just taking the kids for 5 minutes to pick up report cards. Wish us luck! I'm stressed about Boeboe's! I do think she passed, but still.

On Thursday, we have Monkeyman's cardiologist follow-up. Please pray that his cardiomyopathy have cleared. Please, please, please let it be gone. We've done his blood test last week. He's such a brave little soul. He walked to the chair, sat down, stuck his arm out for them and didn't even make a sound all through it. So different from Boeboe's earlier the morning.

The pead herself drew Boeboe's blood. Like I knew would happen, she was all brave until she had to sit down. She started screaming, pushing our hands away, trying to get away. Thankfully, my husband went along and held her tightly on his lap while I held her arm down. She still screamed, but understood that if she moves that arm, it'll be much, much worse. I told the pead, like the opthalmologist a week earlier, that she's on the emotional level of a 6-7 year old accordingly to her psychologist, and it changed their approach to her immediately. Which worked like an absolute charm. Because their approach of "you're 10, don't be so silly" made her even more oppositional. The moment they lowered their voice, slowed their approach, lessened their expectations, and explained what was expected of her and why, she immediately calmed down and tried her best. Still screaming, still swiping their hands away, but at least she tried. She was less forceful in her behaviour. This made me very thoughtful. How quickly she responded to the drs when they spoke to her like a 6-year old. It saddened me tremendously for various reasons. But, I was also grateful. For them, for the knowledge we had, for the help it provided her.

And her meds are working well! She herself has noticed the change within 24 hrs. It makes her calmer, less angry and less depressed. So far, she loves it! I'm cautiously optimistic, though we're still only on half a dose. But I've definitely noticed a marked difference in her behaviour. I'm not 100% sure though that I like it. I loved my fiesty, over-excited, bouncing, laughing, over-emotional little girl. We've gotten to know her, live with her, for 10 years like this. The pills seems to calm her, but that also made her more introverted. More reflective. More introspective. It's difficult to describe. But it's as if she's showing signs of those stage 2 and 3 of her, within the family unit, instead of stage 4. It's sad, in a way. But, if this will make her happier within herself, let her be who she wants and needs to be, then I'm happy for her. It just seems like it depresses all her emotions, not just the "bad" ones. It seems a bit sad to me. But I guess it's precisely what the meds does, and if that means that she's more level, I can understand her being happy about it. I just miss my overly-excited, all-over-the-place little girl. It certainly hasn't repressed her self-pitying thoughts, hahahaha. She still felt sooooo sorry for herself, being the one to have a 2nd spider bite!!

Part of the end-of-year activities, is always the concerts. Monkeyman had his, and it was awesome! He has grown so much, emotionally, the past year. Last year, we didn't even attend, and he had absolutely no desire to ever participate in something social like that! This year, he not only participated, he did fantastic! We had one wobbly, when he saw the way the kids' faces were painted, he dug his heels in and refused to look like that. But his father was able to coach him into letting the assistant paint his face and then he had a ball. So much so, that he was saddened to think that he won't have another concert with his beloved teachers ever again. Since he's moving school now. He's starting grade R next year at his siblings primary school. I think that's about the equivalent of Kindergarten in some other countries. Sniff sniff. My baby boy is growing up.

Here's some photo's of Boeboe's spider bite, the concert and the kids.

Isn't she the most adorable little fairy? I bought the dress for her
christening (didn't use the wings, of course) and then decided
to have her wear it for Monkeyman's concert.

 

He was a little cat, and had so much fun!

Me and my youngest 2

 

My 4 beautiful children

Our little kitty cat, he loved his tail!!

What a beautiful little boy we got. So precious.

And another beautiful boy. Our eldest. Soon, he'll be a teenager!

Isn't she just too cute for words? Love her to bits!!

Two mischievous little monkeys. :-) To me, they look the
most like each other.

 

Spider Bite. This is on day 3 or 4, if I remember correctly. It started
off with a blister about 3mm x 3mm on day 1, which grew over
the days, despite the antibiotics and cortisone. I was quite worried!

 

Taken from the underside. It clearly shows the translucency of
the fluid filled blister. Isn't the body's defense mechanism amazing?

Excuse the dirty foot! She quite refused to put it in the bath,
until the pain was almost gone. And by then didn't really want
a washcloth close to it. I didn't want her to break the skin of the
blister, so I didn't argue too much. And this was taken end of the
day, which added to the dirt. The white spot is some cortisone cream.

A close up. This was taken on day 6. The colouring had me
worried a bit, but I hoped that it was just due to her
not washing it properly for almost a week.

Today - Day 7. You can see how wrinkly the blister's skin is.
I believe that's a good sign? The pain is gone now, as is the
swelling.

Didn't want to end the post with such awful photo's! So here's
a beautiful pic of the 2 sisters.

 



Life beating me down

I've started and re-started this post so many times. I'm not sure what to say. I feel that Boeboe's story would not be complete by not discussing this. But growing up in the 70's/80's like I did, this wasn't the type of subject one discusses. There was a certain "shame" to it. Some things you just didn't tell people. Some things, you're suppose to be ashamed about. Am I? No. I'm just very sad and worried about the future.

Boeboe has psychosis.

I kinda expected the diagnosis. I hinted about it in my last post. Still, it hurts to get a definite diagnosis. To hear your 10-year old needs anti-psychotic medication... it just isn't easy.

We went to see her psychiatrist. The exams is done with and we needed to get a replacement for the anti-depressant medication for which she was allergic. We had to wait until exams were finished so that adjusting to the meds didn't interfere with Boeboe trying to pass grade 4. The psychologist asked me to tell the psychiatrist about some of the episodes that happened recently with Boeboe, which I discussed with her. The psychiatrist diagnosed it as psychosis (possibly linked to bi-polar), and said we need to give something for that, rather than just an anti-depressant. Boeboe has had psychotic episodes since forever. There's things we don't talk about, like I said in the beginning of this post. This was something that I rarely discussed with family or friends, and I've never talk about it this openly. We did tell numerous doctors and therapysts along the way, about all of this. We were told things like "ignore it, it's from the devil" (eish!), "don't worry, that's normal behaviour for a 3-year old", "don't worry, she's emotionally behind her peers, I'm sure it's still normal even though she's 6 already..." or "but remember, she's been through so much with the tethered cord and all the tests and embarressment and stress, surely it's just because of that?". Or my favourite "all kids have imaginations like that!".

Well, I certainly hope not! Grrr. You know what? I kinda feel angry. Angry at all the faceless, nameless (and more familiar) people who always told us that Boeboe's issues just aint as bad as we said it was. When I tried to explain that her tantrums are severe, people would answer "oh, but you must've seen MY son at age 2/3/4/whatever - he would also go on and on for hours". Or "oh gosh ya, I know what you mean, my daughter is exactly the same!". Or "don't worry, it'll pass, it's normal". Etc. etc. etc.

Well, my daughter IS NOT NORMAL. Her tantrums ARE NOT NORMAL. Her behaviour IS NOT NORMAL. Her cognitive thinking processes ARE NOT NORMAL. There's alot about my daughter that IS normal. But there's alot too, that was never, ever normal to begin with. I've accepted it over time. Living with it, it's impossible to not think "wow, that's abnormal". After a while, the excuses of "she's just 4" or "she's tired" or "she's spoilt" wears a bit thin. You can't listen to your child scream in anger for 3 hours NON-STOP on a regular basis, and still think "ah well, that's normal, she'll get over it".

I have 3 other kids. And by now, I realise that I should have tried harder to convince people (specialists) about the facts. But, when you have a little girl of 3, and a boy of 5, you think "okay, she's not the same as her brother, but that's pretty okay to be different, isn't it? I'm sure all the specialysts/other parents/therapyst/everyone is right, she's fine, we don't need to worry, she'll outgrow all of these things like any other child and turn out to be a happy, healthy and completely normal 10-year old".

Well, there goes that theory. :-( I should've realised that it really was as bad as we experienced it. It really was as bad as we feared. It really was as bad as we tried to tell people. Her tantrums, her behaviour, her lack of logical thinking, her paranoia, her anger, her frustration, her explosions, her lack of understanding, everything. With Peanut now in our lives, I think back about Boeboe's first year so much. And it's like the red flags are flapping in my face. Even the tantrums before age 1. I look at Peanut when she's frustrated and screaming because we took a (dangerous) object away from her. And I marvel at how little upset she looks, compared to how Boeboe looked. Obviously, Peanut is 1, she's NOT just a little upset. She's very upset! But it's like comparing a mouse with a lion. And the time. Oh man, Peanut would scream all of about 10 seconds. Maybe a minute. Not an hour! And when I speak loudly to her, she'll stop screaming to listen to my voice. Boeboe...well, trying to drown her voice out with reason, was just adding oil to an already big, roaring fire. The differences are just astounding in their depth.

The psychiatrist also told me that Boeboe has integration problems in her brain. We need to put a very strict routine in place, for EVERYTHING. Every day life (fortunately we mostly do have this, since I'm a routine-type of mommy/person). As well as things like homework, schoolwork, etc. She needs very precise instructions, on a level she can understand with the difficulties her brain experiences. We can't leave her to make her own deductions, to use logial thought processes. Because she won't.

It's very overwhelming, to at long last admit defeat. My daughter isn't normal. What I feared, what I expected, but desperately wanted to believe isn't true. I have to accept it now. If we do a chromosomal test or not. These are the facts that she has to live with. The facts that we have to accept. We have absolutely no idea what this will mean for her future. Will she stabalise? Will she get better? Will she turn worse? Will she be able to realise her dreams of becoming a wife, a parent, a teacher? Will she function on her own, drive a car, hold down a job, take care of a household? Will she end up in an institution? Will she live in a group home? Will she live with us? Will she be okay when we're not there anymore? Will she have her siblings' love and support? Will she stay the person she's now? The loving, sweet, empathatic, mother-hen? Will she loose those qualities? Will the anger, paranoia, frustration, and other negative emotions destroy all the good in her?

I don't know. Nobody knows. All that I know now, is what the psychiatrists can tell me. That we have a long, long road ahead of us. and I know it won't be easy. I'm grateful though, for one thing. That we're not alone anymore. That people will now understand. That specialists are now rallying around us, supporting us. And I'm grateful for medication. I hope and I pray that this will work for Boeboe. When I looked into her eyes, listened to her heart-broken voice, when she told me about a particular episode of psychosis that happened at school, I realised how hard this is for her. She told me that she doesn't want this. She doesn't want to be like this. That she doesn't want those thoughts. That she doesn't like it. It broke my heart and made me realise the horrors that she sometimes has to face. This is the reason why I opened up about it and told her psychologist, who told me what it was and asked me to discuss it with the psychiatrist prior to getting medication for the anxiety. It wasn't easy. It's much, much easier ignoring it, telling yourself it really isn't as bad. But for Boeboe's sake, after hearing the anguish it causes her, I had to. So I'm really hoping that this medication would make things better for her. Really, really hoping. Life is hard enough for her, to have to deal with things like that too. :-(

The psychiatrist also reiterated that she still believes it's Velo-cardio-facial syndrome (22q11.2 deletion syndrome). Because of the whole package. The whole psychiatric package that is Boeboe. Plus the other little things. She said that there's alot of their psychiatric patients that has little to no facial features of the syndrome. And Boeboe doesn't have no features, just very few. So despite the fact that the geneticist also told the professor that she doesn't believe it's vcfs, they (the 2 psychiatrists) still believes it is. The professor apparently still really want to test Boeboe for this. So we've agreed to take her for a bloodtest next week. The conviction with which the psychiatrist spoke, has given me lots to think about. After the geneticist visit, I kinda assumed she would know best and if she thinks it's something else, it must be something else. But the psychiatrist sounded really sure of it. She didn't try to convince me, far from it. She also didn't just bluntly disagreed with the genetist. She just stated her and the professor's feelings. I know that these things could go either way. You can be convinced about something, and bloodtests can be negative. Or other way round. Still, it's made me have another look at vcfs again. I wish I knew what the underlying cause was, as definite as with her tethered cord. Doesn't matter what the drs said, I just knew it was tethered cord. I tried to keep an open mind and try the different methods, medications and procedures. But I knew it. So I could fight for it with everything I had. This time, it feels like I'm stumbling in the dark. I know there's something causing all of it. But I don't know what it is. You could tell me it's a duplication of chromosome nr 28, and I'd believe you (except that, like you probably know as well, there's only 23 chromosomes, LOL). Anyway, this is a long road we'll just have to walk down patiently.

Back to more practical things. Like I said, exams is done with. How did it go? I think good. I have high hope that she'll pass. We worked immensely hard. Much harder than what should be necessary.  I spent hours and hours and hours, summarising only the important bits for Boeboe. And I quizzed her relentlessly. She also feels positive, because getting the extra time in the examinations meant the world to her. She was almost always the last one seated (every one else that got extra time, still finished quicker than she did, which saddened and embarressed her). But like I told her, that's not what's important. It wasn't a race. As long as she did a thorough job, I was proud of her.

Since the afternoon before the last exam, she's been impossible. Oppositional, paranoid, frustrated, tired, angry, demanding, sad and very self-pitying. I know it's just a reaction to the immense stress she was under. I understand, and I have sympathy. But geez, it's difficult. Some days it feels like a cyclone has passed through the house and left the rest of us in its wake. So I've made an appointment with her psychologist. I'm sure it's going to help, like always.

She has also, very reluctantly, agreed to the bloodtest next week. When Monkeyman has to go for his repeat white blood cell count for the cardiologist. Hopefully, his bravery will help us, because it's going to be extremely difficult, getting her to cooperate. Today, at the opthalmologist, I had to restrain her, because she kept on swiping the doctor's hands away. I apologised to her afterwards, and explained that sometimes, we just have to grit our teeth. Even when someone is putting drops in our eyes that stings. Fortunately, her eyes looks good!! Somehow, it seems as if very, very slowly, her tearducts are starting to function tiny bits at a time. Enough for her corneas to function well with enough moisture. She's doing so good, that the dr said we don't need to come for regular checkups anymore, only when there's a concern. My own test was also good news! The glaucoma is still very stable, so no need for medication, and no need for yearly checkups anymore (only every 2nd year from now on). I'm really relieved and grateful, because the very last thing I needed now, would be a health worry of my own. Especially something as important as one's eyes.

On Monday I'm taking Peanut to the pead, because her hips/pelvis has started to click. :-( She had x-rays at age 9 months, which was perfectly normal. So I'm sure it's nothing. It just bothers me that it never clicked before, and suddenly, out of the blue, it started and since then it clicks more and more every day. For about 2 weeks now. So hold thumbs that it's just nothing.

Why a diagnosis?

I've been thinking about this alot. Why do we need to diagnose Boeboe with anything? When she had progressing incontinence, I needed a diagnosis because it would lead to an operation and hopefully improvement before it became a permanent dissability. So I chased the diagnosis. I wanted it, I needed it, and it meant the world to me when I got it. We got her operation and we got the improvements and stabalising of her symptoms that we needed.

So why do we need another diagnosis? Would it really mean anything to us? To her? Would it help with anything? What difference would it make, in my or her world, whether she has a label or not?

A few days ago, my son wanted to know what is Down Syndrome (there's a child in their school with it). I tried to explain to him, and told him exactly what it is. Trisomy 21. Genes that's duplicated. Genes that causes some things to be just a little different in some children. And I told him we suspect that Boeboe's problem is based on similar problems with some of her genes.

And I realised. That's why I needed a diagnosis. Because of understanding. Because of ME understanding her better. Because of her siblings understanding her better. Her teachers. Her extended family. Her friends. Mr N has so many times looked at her in frustration, because she doesn't act her age, doesn't understand simple concepts sometimes even after it was explained to her, or doesn't speak in full sentences (this one has always baffled me). He needs to know that we should handle her issues with kindness, not frustration, because it isn't she. She doesn't chose to talk in half a sentence, expecting us to understand her. It's because she has limitations. The number of times I've gotten angry.... because she would say something like "Mommy, today in school jumped". That's it. Then I have to try and figure it out, drag any more words or explanations out of her, while dealing with her frustration because mommy doesn't understand and her inability to comprehend the fact that she hasn't used a complete, sensical sentence. It was always OUR fault, me, daddy, Mr N or whoever's fault for not understanding her. She never realised it's because she left out some words. For example, she might've wanted to say "Mommy, today in school Jan jumped on my toe." Or "Mommy, today in school we jumped rope and I loved it." So whatever you assume, could be totally off the mark and that frustrated her to no end. For the first sentence, I would react with sympathy, causing her to be totally confused if she meant the 2nd. Why would mommy be sad that I could jump rope? For the 2nd sentence, I would've acted happy and proud of her. Which would've frustrated and angered her for my apparent lack of sympathy that Jan jumped on her toe! And for some reason, you very, very rarely could get any MORE words out of her to complete the sentence. It's as if whatever block caused her to leave them out, stays in place doesn't matter how you prompt or guide her to an answer. And she would just not see what we see. She will not realise that she's left out words. It frustrated me and Mr N to no end. It usually happens in the car after school, which is why Mr N formed part of this. He always tried to help me make her see that her sentence is incomplete. So maybe, with a diagnosis, will come understanding. For me, Mr N, daddy and whoever has to deal with her. Understanding, and sympathy.

When we had no diagnosis before her tethered cord operation, I was impatient with her. I couldn't handle her or the symptoms. Once we had the diagnosis, I had all the patience and sympathy in the world. We tackled every day best we could, without forever waiting for that magical "improvement" to happen. For that magical light that'll switch on in her head/body to signal to her how to control functions that should be controlled. The frustrations of daily life was much, much better, because I didn't wait for it to get better any longer. Until, of course, after the operation.

Now, we're back in the same boat. Well, almost. We're looking for a comprehensive diagnosis that can explain Boeboe's learning dissabilities, her speech problems, her physical problems and her psychiatric problems. Something that can encompass all of that. Just like the tethered cord explained her feet and leg symptoms, her bladder symptoms, her colon problems and her incontinence problems. It explained everything that we wanted answers for at that stage.

So why else would I need a diagnosis?

To know if we should expect so much from her. It's back to that post I wrote, long long ago, about the ballet. (Here) If you KNOW what's wrong, do you expect as much of your child? Like you would've expected from a child who did NOT have the same problem? Before we knew Boeboe had a tethered cord, we expected her to suck it up and cope with the pain ballet brought her. If we had known she had a tethered cord, at the VERY least, I would've gone to the teacher and explain the situation to her. Because she was forcing Boeboe to do things even when it physically hurt her. Was this fair? Should you expect the same from a disabled child, than what you would from an abled child? No, I don't think so. It's not fair towards that child. Yes, of course you should still have high expectations, and of course you shouldn't molly-coddle your disabled child, and make her situation even worse by letting her know you have zero confidence in her abilities.

But how fair is it to expect the impossible from your child? And when she fails (you), she feels even worse? Shouldn't you lower your expectations to what's in her reach? Still expect her to do her best, to try out everything she wants to. But not expect the impossible from her? Certainly, you won't expect a child in a wheelchair to participate in the school's 60m running contest? Or expect a child on the autism spectrum to deliver a speech in front of the class?

If I know that Boeboe has a syndrome that's influencing her mental capabilities, I will stop expecting her to be a normal, average child in school. I will go to the teachers, and I will tell them to lower their expectations, to boost her more, to be proud of what they achieve with her. Just like I will be proud of all her achievements, and not feel like she's failing (even when she does compared to the other children). Because it won't be about passing and failing for me anymore. It will be about accomplishing. I'd be grateful for every bit of progress. I will still be driving her to do her best. I will still work my *ss off to provide her with every opportunity to do her best. I will still expect her to work every bit as hard as she does now. But then I'd sit back, and I'd marvel at what heights she achieve. While at the moment, once we've worked our butts off, I sit back, and I despair at how little difference it has made. Or how hard we had to work to achieve what comes seemingly natural to other kids (Mr N included). It's not easy, to feel like she's failing. When in fact, she might be accomplishing so so much. It's a mindset change, and it's unfair that I need a diagnosis to do the mindset change. But until you're in this situation, you won't realise how difficult it is, to lower your expectations of a child, when there's no diagnosis telling you if it's necessary or not. If I lower my expectations, when there's no reason, wouldn't that tell her she shouldn't achieve anything much, because mommy isn't expecting it? But if I don't lower my expectations when there's ample reason, won't she always feel like a failure, never ahieving what's expected?

Another very important reason why I would want a diagnosis, is also 2-fold. The genetics behind it. A diagnosis could influence the health of my other kids. Or rather, the treatment of the other kids. Like Monkeyman's heart problems. What if it has a genetic cause? Answers for Boeboe might help with answers for Monkeyman. I still have the "why" in the back of my mind. WHY would one average, normal family with no apparent issues have 4 seemingly normal, healthy kids, of which 3 of them then has been diagnosed at age 5 with a problem. Every time a different problem. But every time at age 5, and every time it was a big deal problem. Not something minor. Why why why? Could there be so much coincidence? I don't think so...

And similarly, what if Boeboe has a syndrome, that could be carried over to her children? What if a diagnosis can help her be proactive when she herself wants to become a mommy? This reason is one of the most important ones.

Do I believe there's a cause? Do I believe there's still an underlying, undiagnosed problem? A syndrome or something? Yes. I do. Without a doubt. If they can't find it, I'd still believe it's there. I'm convinced of it. I feel it. I instinctively know it. I've always known it. When she didn't do well during pregnancy. When she didn't grow as she was supposed to. Didn't move as she was supposed to. Didn't react like she was supposed to (like triggering labour when she was unable to get full nutrition from the placenta as the gynae said she would). When she was on the verge of going downhill fast after birth, and reacting like a 34-weeker baby, and not a 37-weeker. When she had sleep apnea as a tiny 2-month old baby. What "normal" baby stops breathing for no apparent reason night after night?? For months? When she didn't smile at us at the normal, expected time of 6 weeks. Not even at 8 weeks. Not even at 9 weeks. I knew it. Then.

When she never registered or reacted to her environment as a baby until 4 months. I knew it. My sister knew it. She voiced it. I shrugged her off. When Boeboe didn't sit at 7 months, I knew it. That was my limit. That's when I took her to the OT. Not for a diagnosis, but at least acknowledging we needed help. When she didn't talk at age 1 or even age 2. Or was unable to make people understand what she said at age 3-4. When she refused to speak at school. To her teachers, to her friends. I knew it then. The teacher knew it.

When she threw those horribly abnormal tantrums for hours and hours. When she would throw her body down on the floor, caught up in her violent anger and unable to feel the pain she inflicts on herself, on her brother, on her parents. When she didn't cry any tears. When her face was all screwed up from her pain, when she would rub her eyes furiously as if the buildup of the non-existing tears is too much, when she would look at me with her eyes shining from a wet film, but no tears would roll down her cheeks. I knew it. Then. When she had absolutely no embarressment because of her accidents. No clue that her friends might/will realise. When she chose to play on at home in wet pants, rather than loose even a minute of play to go and change. Even at an age appropriate for such things. I knew then.

When she would not learn from her own mistakes. When we asked the OT why she would jump off the couch, hurt herself, cry bitterly (without tears!), and then just climb right back up. Jumping off again, hurting herself, cry, and then, AGAIN just climb back up, jump off, hurt herself and cry. Until I step in and tell her off for doing something that causes her physical pain. I knew then.

When she would act abnormal to certain situations. When she acted illogical. When me and daddy looked at each other in exasperation, shaking our heads in our surprise, at each other. When we gave each other a knowing look, a knowing smile, because of Boeboe's idiosyncronies. We knew. We've always known. We always said "she's abnormal". It's a horrible, horrible thing to say of your child, and when people queried us, or berated us for being so mean about our own child, we'd say "but it's true. What else can you say about this?". Because her behaviour, he remarks, her attitude, her reactions, sometimes they were nothing other than "abnormal".

When we had her evaluted for a personality disorder, because she's such a Dr Jackal and Mr Hyde. She didn't have a personality disorder, then. But we knew she had something. We knew it all along, but we had no resources, no reserves and sometimes no stamina to face it. After the uphill battle we faced getting her tethered cord diagnosed, we couldn't face anything anymore. We were done. We just wanted to get on with life and ignore all of this. For once, we just wanted to feel that she's normal. That she just reacted strangely all of these years, due to the tethered cord and the way her bladder/feet made her feel/react. We just wanted to believe everything will turn out okay for her. That she'll be a teacher one day, marry a good man, live on a farm filled with animals, and have 2 little boys and 2 little twin-girls of her own. That's all she wants out of life. And we were determined to give her that.

Just waiting, like always

I'm not used to the waiting, but, I'm almost resigned to it. I'm too emotionally drained to fight against the waiting anymore. I haven't had the strength even to update on here. It's still very confusing. And sad.

A week ago, we saw the geneticist. She said the following things:

• There is some underlying problem in Boeboe, causing all her issues - faulty genes, chromosomal defects, a known syndrome, etc.
• Nothing of Boeboe's symptoms or signs stands out clearly as to what the cause is, so we're going to have to search for it.
• Boeboe has some facial and other features pointing to a chromosomal disorder, but it's all non-specific. She has a unibrow, low hairline at the neck, small hands and thin, long fingers, hooded eyes, flat nasal bridge, flat forehead, head circumference on the 3rd percentile, etc. Some of these might just be genetics - meaning, she could've inherited it from me or her dad's side, like her small lower jaw.
• The geneticist doesn't believe it is velo-cardio-facial-syndrome, mostly because Boeboe's facial features aren't specific enough for that disorder. Personally, from what I've researched so far, 22q11 duplication struck a cord with me. VCFS is a deletion on chromosome 22, at the q11 area. The duplication seems to be very similar to VCFS, with overlapping features and signs, but it also seems just that tiny bit milder in some areas. For example, 80% of children with the deletion has a congenital heart defect, while only 20% of the children with the duplication has heart defects. Same goes for cleft palate, etc.
• The geneticist believes our best option would be to do some kind of micro array analysis. It gives an overview of all the chromosomes. Unfortunately, it only detects about 15% of the problems. Still, it's a good start. The one available in SA only detects about 7%, so she'd like to send Boeboe's blood to England to do this test. Otherwise, we can wait, because they're busy to implement the better one in SA, but it will only be available in about 8+ months time.
• She's going to talk to the professor in Weskoppies, and get back to us on a plan of action.

So as you can see, we're back to waiting. In the meantime, I've been discussing some things with her psychologist, that's worryingly. It has really dishearten me. It's one of the reasons I have no strength left. Maybe, one day, I'll go into more detail on this. For now, it just means that I see why the two psychiatrists said that my daughter has a host of psychiatric problems. It's so sad, so scary and just awful. It's too much for any parent to handle. So for now, I'm kinda ignoring it. After the exams, we have another psychiatric appointment, so I'll face it then again. Her anti-anxiety meds has been stopped after using it for 2 days, because of an allergic rash. And by the time that healed, it was too close to the exams to start a new course of another type. So we'll get a script for that at the appointment as well. Pity that we weren't able to get her some help for this exam already. It would've helped.

We've been studying for more than a week already. It's really, really hard work. I feel so sorry for my children. I'm a slave driver though. Especially because this is make or break for Boeboe. A couple of the specialists, well, actually all except the psychologist, told us to take Boeboe out of mainstream. But we've decided to give her and the school a chance. If she fails this exam, we'll make some decisions. If she passes, we're giving her another year in the school. So, this is make or break. My nerves are frayed already, and we're just busy with revision. I'm summarising all her work for her. It takes me about 5+ hours per subject, and she has 6! So you can imagine how shattered I am. I can't wait for the exams to be finished. At the same time, I'm terrified. How awful that I'm more worried about my 10-year old's school exam, than I was with my own B.Sc final exams. :-( So so wrong. But that's life.

So a quick update on Monkeyman. With him, we're ALSO just waiting. This one is harder on me. I accept that chromosomal studies and things like that takes time. But to sit and wait to see if your son's heart heals itself or not... for the 2nd time in one year? It's indescribably difficult. Our GP says that a function of 36% is really, really low. And that he doesn't know the reversibility of cardiomyopathy in children. Implying that it's not good news in adults. So I'm not sure what's the chances of Monkeyman recovering from this one. It scares me. Alot. I think that's why I focuses on Boeboe's issues. Because even though it's extremely difficult, at least it doesn't feel to me like my child's on death's doorstep, like I do with Monkeyman. Logically, realistically, I know he's not. His left heart isn't enlarged yet, and his right heart has shrunk back to normal size. So, I do believe he has time. If only the heart function wasn't this low, I could've worried less. Couple that knowledge with seeing him being tired on a daily basis. Hearing him being out of breath, sounding tired or complaining about being tired, as well as hearing other people like his teacher complains that on some days he's just not himself at school, or that he's extremely pale, etc. So I'm really worried. It's almost a month since we saw the cardiologist. She said we need to wait 2 months, and then bring him back. Except if his tiredness improves, then we should wait 3 months. Well, after the first month's gone, I'd say he's worse, not better. Not much worse, but definitely no improvement.

So, now we just wait. Wait for the exams to finish. Wait for Monkeyman's tiredness and heart to improve, or for the appointment on the 4th of December, whichever comes first. And waiting for the geneticist to decide what tests our daughter needs to determine what chromosomal problem she might have. Waiting for Boeboe to fail or pass grade 4. Waiting for the psychiatrist appointment to hear what everything means. Waiting for her to be put on some more medication. So like always, just waiting.

Blegh.

Crazy week

We got a call from the professor that the psychiatrist wanted us to see. He asked us to come in today! Wow, it's rare to get into a specialist that quickly. Even though he was very interested in our history as much as we wanted to hear what he has to say. He's a very nice, solid, good man. Really made us feel comfortable and easy to open up and talk to him about things that's not always so easy to talk about. He really seems to "get" the situation we find ourselves in. And he gave me one of the nicest compliments a dr ever did. It kinda set the scale back to level again, for me. After having to deal with so many doctors, with so many opinions. Some that believed I was lying or overly paranoid.

All in all, it was a great visit. Not the best outcome, but still a positive experience. The best outcome would've of course been if he had said "ag no man, there's absolutely nothing wrong with your child, least of all such a horrible chromosomal abnormality". I didn't expect that outcome, to be honest. But a friend of mine did, and was sad and a bit upset that that wasn't what happened. It was sweet of her, but I'm okay with the way things went.

So how DID it go? Well, basically he agreed that our daughter has a whole lot of things wrong with her. He agreed with the anxiety, social problems, learning dissabilities, etc. etc. He took note of all her diagnoses, and was especially interested in her tethered cord and orthopedic abnormalities. Probably since they're signs of the valo cardio facial syndrome. In the end, he said that our daughter (like we know) doesn't have the more obvious, major symptoms of the syndrome. Like the cleft palate, congenital heart defects and the poor immune system. None of which Boeboe has (thank God). Or much of the typical facial features.

Unfortunately, that doesn't mean she doesn't have the syndrome. He said that in the 16 years he has worked on the research on 22q, he has learned one thing from the 800 patients they diagnosed, and that is that nothing about this disease, is fixed in stone. And Boeboe certainly has way too many issues going, too many things wrong, to just dismiss all of it. There's too many signs to just say "don't worry". Having a diagnosis might not change much for her at this point, but it might give us some future support and solutions to certain issues.

He doesn't want to put her through another bloodtest now, with her anxiety disorder, so we need to wait until another dr also needs some bloods, then we'll add his test to it. It needs to be tested in America, since it's not available in our country. Anyway, we'll need to be patient, it's not something that we'll get overnight results for. Quite the opposite, we're most likely looking at months.

He also said that her anxiety isn't something she's going to just shake off quickly. She's in it for the long haul. There's too many, complex pshyciatric signs. Some of it we can just keep an eye on for now, even though they're quite disturbing to us. Some of it we can treat for now, like the anxiety. And some of it we can work around with, like the social/autistic traits.

The one thing he also said that was a bit hard to hear out loud, was that he doesn't believe she'll cope in mainstream school. I'm not at the point yet where I just want to take her out. But, hearing that made me realise we'll have to face the possibility that it might be necessary. That it might be the best thing for Boeboe. Even though they're just 26 kids in her class, she still "dissapear" because of her social inability to reach out to the teachers. I spoke to her previous playschool teacher when I went to pick Monkeyman up (he's at the same school she was). She said aspergers really does fit, or at least, "autistic traits". It makes sense to her now, some of Boeboe's odd behaviours.

We don't have a diagnosis of autism. Just that red flags for it went up for the psychiatrist, and it just "fits". I have wondered about it myself, many times before. Mostly because of her tantrums.

Two days ago, I took her for the EEG test. She was terrified, made a huge deal out of everything, from the alcohol swab to the paste they use to the fact that I had to leave the room for a while because of Peanut being noisy. Everything was just too much for her. If she was 2 or even 4, or maaayyybbeee 5, I could've said it's probably normal and ok. But at age 10, it's really not normal behaving like a 3-year old anymore. It was just another clear sign to me that even though it's difficult to face, she really does not function at the level she's supposed to. We've always made excuses for her, but really need to accept and understand this. For her sake.

She was less terrified of the bloodtest. Just doesn't make sense to me, but I have a huge fear of needles, lol. She did find it very painful, and even worse was when the nurse put (or tried to!) a plaster on afterwards. After ALOT of coaching, she agreed to a microlite rather. She wasn't happy about it, and clearly felt very cornered. I should've interfered and told the nurse to back-off. I need to have a mindset change first. To accept that she's not just being naughty or oppositional or spoiled or stubborn. I need time to get there. It's all been too overwhelming at this point, and I still need to sort out the diagnoses from the speculations, in my head. To know what IS, and to accept that.

Well, so that was our eventful, busy day. It was extremely interesting to see a psychiatric hospital run by the government, up close. I've never been to one before. We didn't see much inside, just the outpatient building where the professor has some offices. Still, it was interesting. I do hope however, that we don't need to become too familiar with it. The threat of the close association schizophrenia has with the 22q deletion syndrome, was constantly in the back of my mind since Monday. Really scary. Really, really scary.

Velo-Cardio-Facial Syndrome?

I'm a little bit numb. A little shocked. A little relieved (weird hey?). A little bit of everything. But a whole lot of sad.

No, it's not a diagnosis (yet).

But it may be, in the (not too distant) future. I have so much to say, but I honestly don't know where to begin. I almost feel like if I pen it all down, that it might make it real? Currently, I can still try and live in blissful ignorance. Once it's there, black on white, I have to feel it. I have to acknowledge it. And I'm not ready. I'm very good at logical puzzles. At figuring out what's wrong and chasing that diagnosis. But when I get it, I backtrack, because searching for a diagnosis keeps you busy. Facing that diagnosis might just bring me crashing down. And I can't afford that. Not yet.

So let's begin at the chronological order. Last week, I took Monkeyman for his checkup with the cardiologist. I'm a bit confused about some aspects of the hour there, so I'm just going to list the facts and maybe it will make more sense that way.

- Lung x-rays are still the same as a month ago. There's bronchial thickening. It might be an infection, and it might be cardiovascular (accordingly to the report). It might be something, it might be nothing. It's not what she thought it would be, though (enlarged nymphnodes).
- She said his white blood count was low when we tested it beginning of September. She wants us to repeat it end of November, and also add a liver function test to it. If it's still high, it might tie in with the lungs having an infection type of thing going. Maybe a localised patch of pneumonia? He doesn't have a cough! No fever, nothing. Spleen feels normal, no swollen lymphnodes, no fever, no ear infection, nothing, except a very slight hayfever in the nose.
- Heart wall is still thin. She said it's the left ventricle wall.
- Left ventricle's output isn't what it should be. She said it should be at least 40%, or at best 38%, while his is 36%. I guess it's the ejection fraction that she's talking about?
- She again speculated that he might have a mitochondrial disease.
- She also again mentioned that the medication she think would benefit him (something called Q10), is a very large pill that she doesn't believe he'll be able to swallow (yet), at his age.
- She's very happy with his iron count, and said she's not worried about it having anything to do with iron or iron malabsorption or anything like that. The count went up from 6.9 to over 13.
- She asked us to give it another 2 months, so that we're in the all clear for waiting 6 months after the Pulmonary Hypertention's cause was taken care of (the adenoidectomy). It's now 4 months, and accordingly to the echo, almost all signs is now completely gone. Right ventricle is back to normal size, backflow is gone, etc. So maybe now there will be some improvements in his tiredness as well. We're grasping at straws here, but, who knows?! It does make sense to give the full time period a chance.
- She said he seems to have a slight hayfever thing going on in his nose, and that we should treat it for a month or 2, and see if that doesn't help him sleep better and thus he might be less tired? Another straw......
- We'll do the sleep study once his nose/hayfever is taken care of, because we don't want anything to interfere with the results and get a false positive. It makes sense, so I'm happy to wait on this one.

She says the next step might be a muscle biopsy of the heart, or a CT scan, we'll need to see what the next 2 months brings. When I asked her what the thin heart wall means, she replied that it's a "[something] cardiomyopathy". I couldn't immediately register the something she said, it was a biggish word, and she spoke fast. She then said that she didn't want to diagnose him with it yet, because then we're going to stress.

The cardiologist said she doesn't want to see Monkeyman TOO often, to try and find what's wrong, because she said the children gets very anxious and worried that there's something terribly wrong with them (definitely part of Boeboe's history). A little girl who had an appointment just before us, told the cardioligist that her heart is "broken" when she had to visit the cardiologist for only the 3rd time. That's sad, shame. So that's another reason she wants to give it 2 months. She also said that IF he shows improvement over the next 2 months, we should postpone the appointment of beginnning December, to January rather.

So I was still taking all of this in, when I saw our GP for some issues I have (most likely iron problems). I told him about Monkeyman's thin left heart wall, and he replied: "Cardiomyopathy?", and then said: "That's bad. That's very bad."

This whole weekend I was concentrating on the 3 things I bolded. Thin heart wall, function of only 36% and mitochondrial disease. The one as bad as the other. What bothers me most, I think, at this point, was the 36%. Everything I read, says that this means he is in the beginning stages of heart failure. Can that be???? The mind reels.

So, being very preoccupied with this, I went into the psychiatrist visit today with absolutely no other expectation than her diagnosing Boeboe formally with an anxiety disorder, prescribing some pills and us being on our merry way again.

So NOT what happened. For the 3rd time in so many weeks, I'm reeling from the shock of some very unexpected diagnosis. I'm not sure how any parent can go through all of this, and just keep on pushing. Keep on going. Laugh, smile, live life normally. What's normal anyway? I don't know anymore. We talk, the kids laugh, we take them to school, they play tennis, I chat with friends, I cook, we drink coffee, we shop, etc. But inside, I'm numb. I'm dead. I can't process anything anymore.

The psychiatrist said that there's a complex host of things wrong with our daughter. She definitely has an anxiety disorder, "amongst other things". She didn't go on too much about what other things, except that she first wondered about Aspergers, but later on in the appointment she started to think Velo-Cardio-Facial Syndrome. Hence, the titel of this blog. It's not a diagnosis yet, it's what she thinks might be up. She says there's a professor she works with in one of the psychiatric hospitals (not as a patient, obviously!) that deals closely with this syndrome (especially amongst his schizophrenia patients). She's going to organise a visit for us with him. If he also believes that it might be that, they'll do a bloodtest and send it to a univarcity in New York he deals with, for tests. Sounds serious. :-(

The other name for this syndrome, is 22q11.2 deletion syndrome. It's a chromosomal disorder, quite common as far as syndromes go (apparently the most common one after Down Syndrome), and it means that a part of chromosome nr 22 has been deleted. Due to Monkeyman's current heart issues, and even Mr N's diagnoses over the years, the psychiatrist believes that it didn't just happen to Boeboe out of the blue, but that it's a familial thing. Something we passed on to all 3 of them (maybe even all 4, who knows?!).

I don't know how to feel. What I'm suppose to feel. I just know that there's a big, heavy stone somewhere in my heart's region. And I know that if I think about it too much, it's going to explode and damage everything in its path.

Tomorrow, I have to take Boeboe for an EEG. She's absolutely TERRIFIED. Because Mr N "bragged" once about how sore it is, and she retained that information. She also have to go for bloodtests afterwards, and I'm going to be all alone with all 4 kids. My husband just simply cannot take off for every little thing, and there's too many little things going on at the moment. Too many tests, procedures, dr appointments, etc. Just too many. It's clear that something is wrong when a family has to take their children to so many appointments. Something very wrong.

Hand, Foot and Mouth Disease

No, not the bovine disease! A related, but human disease caused by the coxsackie (who on earth named a virus that - hahahahaha) virus. Yes, we've become familiar with this disease. After 12 years of having kids, this was our first. Apparently, it mostly hits children 5 and under, and 2nd most, children between 5 and 10. Older children, teens and adults very rarely gets it, and if they do, they get it less severe than babies and small children. Interesting, since most childhood illnesses is worse in adults than in the children!

Peanut got it first. We went to about 4 shops in the days before our long weekend away (we went camping). I'm pretty sure she must've picked it up in that time. Fortunately, she didn't have a severe case. She was a bit miserable, couldn't drink for 3 nights (did drink in the day, fortunately), due to an ulcer on the tip of her tongue, threw up once and had the most awful smelling nappies (still have those, yuck!). And the rash, of course. No fever, strangely.

Boeboe got it about 2 days after Peanut, first complaining about her cheek that hurt (from ulcers). Then the rash on her hands and feet. Just a few spots. No fever. Apart from her mouth being really painful at times, a sore throat at night for 3 nights, and difficulty eating and drinking due to the ulcers, she was absolutely fine.

Then Mr N got it. Three ulcers in the mouth, and a rash all over his arms, hands, feet and legs. The rash didn't turn into blisters like some of Boeboe's did. And it dissapeared in less than 48 hours. No other symptoms. Not even a fever either. And his mouth ulcers wasn't as sensitive as Boeboe's was.

It seems as if Monkeyman has been skipped. No symptoms or signs so far. We'll see how it goes the next week. Both me and their dad had sore throats, and I have a few small mouth ulcers (nothing too painful), and a small patch of rash on my one foot. So I guess everyone got it, except Monkeyman! Clearly, whatever ails him, causing the tiredness, doesn't affect his immune system. Thank God for that.

Here's some piccies of how the rash looked on the kids. As you can see, quite different between individuals. I only realised it was HFMD when Boeboe presented with the ulcers in her mouth together with the blisters on her hands. Peanut refused me having look in her mouth, when I thought her lack of drinking at night and her excessive drooling was due to teething. Only once I knew Boeboe had ulcers, did I notice that Peanut had one on her tongue. Poor poppit.

Peanut's arm and shoulder. A short while after this was
taken, her hand was also full of spots. A few which blistered
later on.

A close up of some of the spots. Using a bit of imagination,
you'll notice that some of them are raised, and most has a
pinprick white head in the middle.

Spots on Mr N's arm

Other arm and hand

Knee

Foot (he worked in the garden during the morning, digging
holes for the new irrigation pipes his dad is putting in, so
excuse the dirtiness! The moment we noticed the spots, we
stopped his working in the garden, and he was so hyped up
about having an excuse to rather play computer games, LOL).

The blisters that formed on Boeboe's hand. She also got them
on her knee and foot, and Peanut got it on her hand. Again,
excuse the muddy hands!

And the very muddy toes! There's a few spots on the one foot
(tiny red pinpricks). But the reason I post this photo, is because
of the abrasions on her other foot. The one on the big toe is
fairly deep. This is typical of what happens to her on a
weekly basis, due to the damage the tethered cord did to the
nerves leading to her feet. It makes her so sad, that she's always
hurting, because of scrapes on the top of her feet. This is
because she drags her foot when the signals of the brain doesn't
reach the foot that it should lift the toes upwards, when stepping
through. It hurts me, seeing things like that on her feet.