Monday, 30 September 2013

Things I can't control 1...

The serenity prayer has always annoyed me, ever since I first heard it as a young teenager. 

"God, grant me the serenity to accept the things I cannot change,
The courage to change the things I can,
And wisdom to know the difference."

Firstly, I don't believe there is anything I can really control, as much as I would like to. I mean, I can't even control the hair on my head, they keep sticking out, falling out, turning gray.

It's not really the control-freak in me that is freaking out... well, it kind of is. But it's a lot more about the knowing the difference part. 

There are a few black and white things in life, fair enough, but the vast majority of things surrounding me are not black and white. I mean, for most things, how would you know if they can be changed, unless you tried. And if you couldn't change it, how on earth than would you then have the serenity to declare, "all right, this can't be changed then, must fall into that category, tick" let's move on. 

How would you not know that you failed, how would you not be frustrated, and how would you just move on and accept it. And I won't even go down the route of the connotation of the word "wisdom", which kind of implies that it is a God-given knowledge, so practically a higher power telling you what is possible or not possible. And then where is the all things are possible with God thing...

The process of gaining this wisdom must surely involve trial and error and I suspect some people learn their limitations sooner than others and become more resigned and don't try that much anymore. Surely, just like with any preconceived idea or prejudice, the process of induction will help you make the right assumptions in the vast majority of cases, but not always. And doesn't this process of learning our limitations, reduce our enthusiasm to change the world? Isn't this the whole idea of growing up and becoming boring, middle-class suburban people?

I don't comply well without knowing why and having a chance to think through it and accept or reject it, or fake-accept it, yea, I do that too for survival obviously. 

So no wonder I find my life being a mum so frustrating at times. Motherhood arrives with million unspoken rules about what's right, engraved in us and in society. 

More on the specific things I can't control next time. 

Thursday, 19 September 2013

Hot off the press

This is a brand new article, independent research, not related to BioMarin.

Monday, 16 September 2013

From the Finnish researcher

There was a small but relevant study I shared a while back, you can read the post here.

I wrote to the researcher and asked a few questions and she has kindly replied. SO it's my duty not to forget and share. I did tell her that I would share with others.

- Based on my discussion with dozens of parents, it appears that most children with HCH wouldn't have an MRI done unless indicated. We were wondering if any of the findings (temporal lobe dysgenesis, peritrigonal white matter reduction, and abnormally shaped lateral ventricles) would show up on a CT, which they seem to be more likely to have? I am thinking the abnormally shaped ventricles would, but I am not sure of the other two? You´re right, on a CT you can only note the shape and size of ventricles, but not temporal dysgenesis. 
- I presume it didn't make any statistical difference which of the 2 common mutations the children had? Right. Both common mutations (c.1620 C>A and c.1630 C>G result to the same amino acid substitution and consequences are similar. We did not have children with other rare mutations. 
- When you use the term mild intellectual disability, I presume the IQ range meant is 50-69, is that correct?  That is correct. 
- Is there a significant difference in the verbal/non-verbal IQ that would have been noted? In most cases verbal IQ was lower than non-verbal, but there were a few exceptions. 
- In terms of the expressive language issues, is there a diagnosis provided by the speech pathologists, such as specific language impairment or any particular pattern in which way their speech seems to be impacted. - Speech delay seems to be the most common problem, so any light you could shed on this, based on your research, would be most appreciated, I realize this is not about neurology. In children with language problems: both speech production and understanding language were impaired, but in most cases expression (speech production) was more delayed/impaired than understanding. These children had benefit from augmentative and alternative communication, like using pictures and signs to aid communication.  
- Do you know if any of the children had hearing problems? - Up to 75% of kids with HCH seem to have recurrent otitis media and need multiple sets of grommets, etc.  Only one child had hearing impairment, but that was not caused by recurrent otitis media (it was sensorineural).

Sunday, 15 September 2013

The wind of change

WARNING, it's nearly midnight, I am rambling, all of this is probably only interesting to me, so don't feel bad if you don't read it...

I don't do well with change. Well, I suppose I think that I don't, but I actually probably do. The one thing that I have learnt since I have become a mum is that whenever I get used to something the kids do or don't do, it will change withing a very short time-frame.

So let's see what is changing...

During the summer I have introduced that each day is either Tara's day or Lia's day. Fi will join in when she is 3, until then every day is her day too as she is younger she can't wait well. yet :-) This small game has really increased Lia's confidence and has helped Tara to learn to wait and generally to stop doing much of the typical first child behaviors she would have exhibited in the past. I suppose I was at fault as I was so concerned about her speech development for years that I have focused a lot on what she said and spent time correcting it, etc. But now her speech is almost completely caught up in both languages which is a huge relief.

Our 2 eldest have started playing n our estate. This is not something that would have been the done thing when we were growing up so we are watching with great interest how their personality and independence develops through this.

Tara is now in first class taking the school bus and doing a whooping 8 hours of gymnastics every week. She is now in school from 9-3 which I find way too long. This year is supposed to be the big leap after the infant years in school work, I hope she will do OK, she has already complained that they do very little arts and crafts. So now we make sure that we have a special crafts afternoon every week and a baking day...

Lia has started junior infants, she seems quite happy and is mainly looking forward to starting have proper playdates. She has really come a long way socially and confidence wise this summer, so I am looking forward to seeing a happier, less whiny Lia this year. I anticipate that she will come out of Tara's shadow as she will no longer be the small sister of Tara. It also helps that she has been invited to join the junior squad for gymnastics for 3 hours a week and is in a different team than Tara.

I will continue about Fi and me another day as there is a lot to say.

Friday, 13 September 2013

Saturday, 7 September 2013

Paley video

I just realized that I forgot to share this. Very informative, although from before the internal nail times.

Saturday, 31 August 2013

Person first language

I saw this poster of Down Syndrome Ireland in the library today. I liked it so much that I was thinking about it the whole day. Here is a more detailed explanation of their person first language.

It really-really resonates with me. Especially these parts:

  • "A baby born with Down syndrome is not a “Down’s child” or a “Down syndrome baby.”" 
  • "It is also important to use correct terminology. A person does not “suffer” from Down syndrome, nor are they “afflicted”. It is not a disease. Down syndrome is a chromosomal condition which results in an extra copy of the 21st chromosome. It was discovered by Dr. John Langdon Down." "
  • Person First language emphasises respect for the individual. A child is much more than a label. Help to educate family, friends and professionals about the preferred way to refer to a person with Down syndrome."

Trying to translate these statements into dwarfism terms would be very interesting, wouldn't it...
  • A baby born with dwarfism is not a dwarf or any other label e.g. noun.
  • Dwarfism is not a disease but it is a genetic condition.

Only one question remains, why do members of the dwarfism community promote the use of labels such as "dwarf" and "little person"?