Our life with a rare genetic disease

Try this freebie to learn and practise sign language numbers (Finnish sign language 0-10, British sign language 0-8)

Another free printable with sign language numbers (Finnish sign language 0-10, British sign language 0-8). This time learning and/or practising counting from 0 to 10.

Simple counting printable, which can be used for learning and recognizing numbers in sign language (Finnish sign language 0-10, British sign language 0-8). Just match the right hand gesture with the right owl.

I made an Initial sound 3in1 welcome freebie. It contains 9 cards with images, each accompanied by 3 letters. Can your little one name each image and then mark (e.g. by clothespin or circling) the right letter that the word begins with? The freebie is made in such way that can by used by English, Slovak and Finnish speakers! Hint: if you print the cards twice, you can enjoy memory game as well ;-) By clicking on "Welcome Initial sound 3in1 freebie" and subscribing it is all yours!         Welcome Initial sound 3in1 freebie

I know that many of those who need therapies do not get them for many reasons: they are on a waiting list, they have restricted financial situation, no insurance etc. In this blog I will try to focus mainly on presenting pictures from our therapies and home-based activities in hope it helps somebody. It will not probably solve anybody's problem, that is neither a point, but could help to find the ideas, to find the way, motivation, energy, strength. In past 3 yrs and 10 months we went through many ups and downs. As there is not much of information about BRS (Bainbridge-Ropers syndrome), we are happy for any tiny progress, as many of you. Our biggest step forward so far is, that we finally walk! It makes life much much much easier. As was mentioned earlier, we do not talk yet, but we work on it hard daily. We still do use diapers, but we also work on it intensively. So, obviously there is still a lot of help needed for basic daily activities like washing, dressing up, feeding. K

.... although we walk only for 8 months! Because we use DAFO orthotics, we bought skis, which can be used with the winter shoes, not ski boots, as those are usually pretty narrow and could not be wear over DAFO. The skis are very light and easy to adjust and put on.  Skates have not been used yet! But they are ready to be used!

Our home-made sensory "rug"

Our life pretty much turns around therapies (speech therapy, occupational therapy and physiotherapy), doctor's visits, filling up plenty of applications every year, making plans and  different meetings. We are hypotonic and started to walk only like 8 months ago, at the age of 3 yrs 2 months. We still do not talk, but we say "mama, yes, no". There are 2-3 therapies in a week, plus exercises done at home on a daily basis. Our main "problem" is called Bainbridge-Ropers syndrome (ASXL3). One pretty rare genetic disease (ca. 200 cases in the world). Wondering, if it is rather our friend these days, and not a problem. Actually, i cannot really imagine our life anymore without that daily challenge, struggle and routine. What we would do without it??? Here I would like to let you know about our progress, what we do to make our life more easy, give you some ideas from therapies, home activities, or even food related things, as feeding was one big problem for years her

Counting panda bear freebie