That´s short for my second son, born in may 2009.
 |
| Cutest baby you´ve ever seen. |
Me and my wife started almost immediately to question our new babys health. After four months we got so worried that we got an appointment with a neurolgist.
V was very tensed and he was evolving very slowly. It was almost like he was to busy trying just to lie still on his back, all his body could do was try not to "fall" from that position.
 |
| Trying to lie on his back - easy for most of us. Hard for V and die-cast pittys. |
The muscles in his arms and legs were very tense - but at the same time he was absolutely charming, laughing and with an outmost contactseeking eyemovement.
After months of tests were we found out that his thyroid was not doing well, and that he has an allergy against both milk and eggs, we finally did a brainscan.
 |
| Struggling to get rid of the mask. One of the worst moments of my life. And in his. |
Only three weeks after our wedding we got the verdict from the scan. It wasn´t a muscular disease. That was the good news.
The bad: V has hypomyelination. That means that he lacks the ability to form myelin in a proper way. That means that his brain works slowly. In very very simple terms.
V evolvs slowly. He learned to walk late (1 year and 7 months) and we´re currently struggling with his first words. I´m having the same dream over and over in my sleep - I dream V has learned how to speak and finally I´m beginning to getting to know this mystery boy of mine.
 |
| Waiting for the pitty. Three of us are waiting for V to speak. But it´s ok. It´s going to be worth waiting for. |
This is still a dream but chanses are good that he will learn to speak - maybe this year.
* * *
 |
| The MRI Scan revealed some clues - but not the whole mystery. |
- Specific motoric retardation.
- Delayed accomplishing of expected physical development.
- Delayed myelinisation, other specific unnormal radiological discoverys in the brain.
- Congentinal deformity of the brain, hypomyelinization since birth.
***
August 2013
By now a lot has happened with V but with the one thing I wanted the most (and still have dreams about at night) - V´s problem to use words - very little has changed.
He is a very active young boy of 4 now. He runs, crawls, jumps (not high but still) and likes to take short strolls by himself down the street to check out the neighbourhood. But he only uses a few words like "mama, papa, Yes, no".
But he understands almost everything we say and we use sign communication. He understands a lot of different signs now and he master over 50 himself. Lately he combines them, like escalator, which in Swedish is "rolling stairs" - so we take the sign for roll and then the sign for stairs. And today V did the same (He loves to see movies on YouTube of Escalators, trains, elevators and buses)
 |
The Big DNA Check of V - Swedish scientists to search for V´s disease
|
But the cause of the matter is still not determined and now we´re going to let scientist check out all of V´s DNA-genome.
They are then going to compare this to me and my wifes genome (and his big brother´s) to try to see what´s gone wrong and where the mutation occured.
When we decided to go along with this we also had to decide whether we wanted to know about other differnt diseases the scientist could discover that our genes could bear.
Tricky questions, to say the least. Do I want to know if I have a 72% likelihood to grow cancer? Or if my son does?
But at the same time it feels good that we´re on this thing. I want to look under every stone possible to try to find out what has happened to V. And it feels good to have some smart scientists onboard.
***
One is called Merrill-Palmer-Revised Scales of Development (MPR) and it is used to evaluate childrens level of development.
One of the parts of this test is called Color Matching and there V did great.
From the picture above you can tell that it hasn´t always been the case, but the last year, colors has been one of V´s strenghts. He has learned all the signs for our 7-10 most common colors and it is a important factor when V describes an object. It is a blue bus. A red car.
Then he did the Snijder OOmen Non-Verbal Intelligence Test (SON-R) and as a complement Wechsler Preschool and Primary Scale of Intelligence (WPPSI-III).
Here V struggled a great deal. His age were estimated more of a 2,5 or a 3 year old kid. Patterns and puzzels where very hard for him to understand or copy.
Me and my wife also filled in a large number of pages in a test called Vineland-II where we estimated Vs abilities.
From the answers we could give it was clear that one area that V really performs well is "Abilities around home" And as you can see from these early pictures, this has been something that V has taken an interest in from an early stage.
All in all the psycologists recommend that V is given great support to start activities and to make the world around him easier to understand. Pictures is a good way to help him out and makes the day more predictable. He needs an adapt pedagogy and a clear support from an adult all the time.
This is thus one piece of information in the great enigma of our little son. Now 5 years and 1 months old. He speaks about 10 words (hello, mama, daddy, blue, boat, no, yes, bye bye) and signs some 30-50 different signs.
Winter 2014
The genome tests turned out... into nothing. No match. V is still the only kid on the planet as we know of with his undiagnosed disease.
***
June 2014
Thorough investigation makes it official: V is mentaly retarded
A couple of days ago we recieved a not surprisingly yet somewhat discouraging notice.
After being tested several times with at least four different test types the psycologists agreed to put the diagnosis "Non Specific Mental Retardation".
The Non Specific part is based on the fact that V made some really great achievements on some of the tests, and then other results that were, well not so good. He also only speaks some 10 words or so, that makes it difficult to judge his language abilties.
He really scored good on the parts called "helping out at home and know his way around the home". I´ve already written about the great fact that he can make his own smoothie. He knows how to find the different parts of the mixer, he put´s them together and he brings a banana, some youghurt, orange juice and frozen berry fruits from the freezer and mixes them together. All by himself.
On that part of one of the tests V actually scored points as of an average 5 year and 4 months child. A brilliant result since he´s only 5 years old. But that was also the only really good result. The rest indicated a boy around 3 or 4 years of age.
This is one of the tests where V struggled.
"Fill in the missing square by choosing one of the four pictures down below:"
After being tested several times with at least four different test types the psycologists agreed to put the diagnosis "Non Specific Mental Retardation".
The Non Specific part is based on the fact that V made some really great achievements on some of the tests, and then other results that were, well not so good. He also only speaks some 10 words or so, that makes it difficult to judge his language abilties.
He really scored good on the parts called "helping out at home and know his way around the home". I´ve already written about the great fact that he can make his own smoothie. He knows how to find the different parts of the mixer, he put´s them together and he brings a banana, some youghurt, orange juice and frozen berry fruits from the freezer and mixes them together. All by himself.
On that part of one of the tests V actually scored points as of an average 5 year and 4 months child. A brilliant result since he´s only 5 years old. But that was also the only really good result. The rest indicated a boy around 3 or 4 years of age.
This is one of the tests where V struggled.
"Fill in the missing square by choosing one of the four pictures down below:"
Patterns and numbers are hard for V. Colors are simple. But the
psycologists suspects that he has problems with the perception of the
eye. We havn´t been able to investigate his sight very deep, the doctors
think his eyes work fine but there can be some problems with the
information from the eyes to the brain. Some things might get lost in
translation there.
More details about the tests
One of the parts of this test is called Color Matching and there V did great.
From the picture above you can tell that it hasn´t always been the case, but the last year, colors has been one of V´s strenghts. He has learned all the signs for our 7-10 most common colors and it is a important factor when V describes an object. It is a blue bus. A red car.
Then he did the Snijder OOmen Non-Verbal Intelligence Test (SON-R) and as a complement Wechsler Preschool and Primary Scale of Intelligence (WPPSI-III).
Here V struggled a great deal. His age were estimated more of a 2,5 or a 3 year old kid. Patterns and puzzels where very hard for him to understand or copy.
Me and my wife also filled in a large number of pages in a test called Vineland-II where we estimated Vs abilities.
From the answers we could give it was clear that one area that V really performs well is "Abilities around home" And as you can see from these early pictures, this has been something that V has taken an interest in from an early stage.
All in all the psycologists recommend that V is given great support to start activities and to make the world around him easier to understand. Pictures is a good way to help him out and makes the day more predictable. He needs an adapt pedagogy and a clear support from an adult all the time.
This is thus one piece of information in the great enigma of our little son. Now 5 years and 1 months old. He speaks about 10 words (hello, mama, daddy, blue, boat, no, yes, bye bye) and signs some 30-50 different signs.
I hope all is going well even with the lack of updates lately, friend.
ReplyDelete