Life upside Right?

When I started this blog I was only planning on sharing minimal amounts of my life and more the crafts and fun things I do. then I realized maybe There is someone out there going through something similar who might stumble upon my blog and just need a boost because it can be discouraging at times.

At times it feels like my world has turned upside down and I am stick in a whirl pool unable to escape. If you have ever felt this way then you understand the helpless feeling as no matter how hard you try you can do nothing but take the bludgeoning blows dealt. I have found the hardest for me have had to do with my children

 

My most recent blow

My four year old (Miss Muffit) began having seizures with no examination why all her tests are normal and has had no trauma or infections, not even lack of sleep because they have happened early mornings after 6-8 hours of sleep. We started her on seizure medicine and have not seen any generalized seizures yet. (fingers crossed.)
Although it has brought out some mini drop seizures which come and go and are worse at times but seem completely under control at others.

This has been a large trial for me because she was my healthy child. She has a speech problem but overall was healthy in all other aspects. Since her first Seizure I have had to deal with a lot more break downs and emotional and behavioral problems that no longer respond to the way we stopped them the first time around.

 

My three year old (little Boy Blue) is being tested for Global development delay (they axed ASD so I am grateful for that) and at times is a real handful. He also has a speech issue and mainly communicates with babble, crying, screaming, and pointing. I am grateful he is physically healthy despite behavioral problems.

 

My 19 month old  (Boe Peep) I have touched on before with a devastating diagnosis of a rare Genetic disorder IDIC 15. It was hard to take in but as time goes on we are finding it easier and things are not as difficult as we thought they would be. So far she is non-verbal and cries and screams when she wants things, she has not quite worked out pointing yet so I am looking for ways to help her including pictures and sign language. Once I find time I will be able to get this fully going right now it's bits and pieces.

 

As you can see I have my hands full and many doctors appointments to attend.  My house is always noisy; at times very overwhelming.

I am grateful for a supportive husband who loves the minions and I.

 

IDIC 15

I received a answer finally after nearly a year of tests on my poor baby.
In a way I wish it was wrong, I wish we were still searching; I want to kick and scream that they are wrong, that my baby just has something little that can be fixed with some simple something anything even a magic wand.  I want it to be something else, something I can handle easily that won't change the rest of our lives
but it's not...

instead we will face

IDIC 15

 

http://www.rarechromo.org/information/Chromosome%2015/Idic15%20FTNW.pdf

(this will take you to a pdf of the disorder that takes a moment to load)
I cried on the way home

I can't fix it

and I will never be able to.

My baby is 1 in 30 000

my baby will not be like other children

I know at this point I do not know the severity of it all

I just know what i have read.

to be honest it scares me; making me want to throw the computer because it's wrong it can't be right.

but it is what it is.

♥I LOVE MY LITTLE PRINCESS♥

she is perfect.

I honestly don't care if she is different

what bothers me is I won't be able to always protect her from others.

I have worked with people with learning disabilities

and witnessed first hand how they can be treated

I have seen people shun them

I have heard the crude and hurtful comments

I have even snapped at those whose mocking cruelty has left small daggers in those mocked.

The world does not understand...

and I weep knowing that my loving, smiling, inquisitive, music loving, easy going baby will eventually ask me

WHY?

 

I know it's not going to be easy and there are MANY things I will have to learn;

Many people I will need help from;

and Many more appointments to attend (I hate Dr's offices, so do my kids. I'm going to have to put together some activity bags; honestly I don't know why I havn't already... wait yes I do time lol).

 

Already I am thankful  for the kindness and support of others

even from those who have gone through this; who's children are fighting the same battle. I am grateful for the support and knowledge that I am not alone there are others who understand.
Thank you everyone.

Hypotonia

 

It's hard to admit you have a problem; I think in a way it's harder to admit your child has one.  From the moment they are born they melt your heart, they are perfect. At least they are meant to be right?! Well my baby is different; in a way she is perfect yes, her bubbly smiles and determined attitude can not be rivalled. :) From early on I have known that something wasn't right, yet denial is easier to accept than the truth.

 

My poor baby has been poked and prodded tested and re-tested since she was 1 month old she has had x-rays, EEG's and ultrasounds. Still we are short on answers all tests coming up negative (all but one which the Dr's tossed aside because they said it was irrelevant AHHHHHHHHH. her Metopic suture was closed at 1month when they tested x-rayed it). We have seen a family Dr, a paediatrician, 3 Nero-surgeons, 2 Neurologists (3 if you count the student), Geneticist, optomaligist, ear nose and throat specialist, and someone else that i can't think of at the moment it has been constant tests and Dr's apointments to say the least and we live 45 min out of the city where all these tests are done.
What we do have is just scratching the surface Strabismus (cross eyed) needing to be patched to help the weak eye and hopefully we won't need surgery.

 

 Ear tubes putting an end to 3 1/2 months of constant ear infections and antibiotics and then there is the one thing that makes more sense Hypotonia. (http://www.nlm.nih.gov/medlineplus/ency/article/003298.htm) (For anyone who wants to know more) well at least i feel it's a step forward. Why? so far the Dr's don't know what is causing it. She started to hold her head up at about six months and at that still needed support. She is now nearly ten months she can hold her head up although at times she will go floppy randomly. She is also having bowel problems it seems like on a constant basis. She also chokes on thin liquids and has trouble coughing up phlem more often then not turning everything from bright red to blue bursting a few blood vessels in her cheeks and under her eyes as she tries to get a breath. The first time that happened it scarred the crap out of me, now it happens enough that I hold my breath waiting for her to take one then go back to what we were doing. We have been seeing a physiotherapist but honestly I am already doing everything they are with her. I do count my blessings though; even though she is not hitting her milestones when she should she is rolling around trying to play with my other children. It's hard though knowing that she should be doing more or having babies younger than her sitting up and crawling and doing other things in a way pulls at my heart not knowing what lays ahead for my beautiful little angel.
We have more tests coming up in January a MRI/MRA and Spinal tap(not sure if i want the spinal tap done) are the big ones. It seems all the Dr's are waiting on the MRI/A so we are stagnating as we wait. I hate not knowing what is wrong or why. Honestly I think the Metopic Suture being closed early ha caused all her problems (including seizures she experienced till her head shape changed about 4 1/2 months, it changed and everything in proved the seizures stopped and like a light switch she started improving smiling all the way to moving one of her eyes since then she has been progressing). Yet the Dr's toss the theory aside because she does not have a ridge of bone down the center of her forehead so frustrating. Sigh well thus far this is the bones of everything and we are just at the beginning of what's ahead.