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Showing posts from December, 2017

Laga olika mat

Under julens buffébord kan man välja mat som man vill men nu börjar vardagen igen!
Nu är jag ensam med barnen under veckan och idag småstartade vi med makaroner och falukorv till lunch men på grund av Frejas magbesvär så ville neurologen att hon helst inte ska äta pasta eftersom det är förstoppande. Så nu börjar livet då vi lagar olika mat!
Jag kokade bulgur till Freja som jag blandade med väldigt lite fullkornspasta. Vi har bara fullkornspasta här hemma så det fick stora tjejerna, den pastan är dock inte tillräcklig för Frejas lilla mage! Jag åt också bulgur och pasta blandat i sympati för lilla Frejisen men det var helt okej.
Mjölk är också förstoppande så istället fick hon vatten med movicol i och vi får se hur vi kan lösa det sen när hon börjar förskolan igen!
Vi har köpt husk som vi ska byta ut lite välling mot men vi har inte riktigt börjat med det ännu! Om två veckor ska vi till Hab och då ska jag se till att vi får tid till dietist och sen också att vi får en rullator till he…

Cry on the inside like a winner

”There is something wrong”. Those thoughts, that sentense - nobody wants that.
In ”The other woman” when Kates world is falling apart Carly tells her to ”cry on the inside like a winner” - it’s sort of a funny scene but in truth that is what most of us do. We hide it, trying to hold it back, nobody wants to seeme that voulnerable or week.
But what about when your world truly crumbles? When you get a result you can do nothing about? When you are completly helpless? What then?
You can’t keep crying on the inside, you need an outlet! And you need tools for dealing with all those emotions. It’s so hard and it takes a lot of work to get out of that dark place - but in time you will heal some of those wounds and you will begin to function again.
I’ve realised that although I have come quite a bit on my journey back I have one huge issue, something I think I will have to live with for a very long time if not forever - acceptance! I can talk about Freja and her diagnosis outside myself but w…

The little tummy

So constipation seems to be a fairly big issue with PTHS kids and also for Freja!
Hers started right before summer, about 3 months before she turned 2 years. In the beginning we didn’t think much of it (we didn’t have the diagnosis either) and just gave her proon puré but at the end of summer that was insufficient.
Then we got a liquid medicine called Duphalac to give her every day but that is a laxative so the child neurologist didn’t think we should use that all the time. Better to focuse on fibers, so instead or as a main medicine we got Movicol (a powdery texture which is filled with fibers) that we can put in her food and then use Duphalac as a supplement when needed.
He also said we should see a dietist or nutricianist to learn what food worsens the constipation and which eases it. I think there is one connected to our Hab. so I will ask next time we are there. 
In Sweden we have a special formula for older kids that they often get before night time and Freja drinks that both m…

Spontanious mutation

Today we officially got Frejas diagnosis!
Since she is only the 15th known case in Sweden the child neurologist seemed releaved we had already seeked information on our own. We talkad about which of the symptoms Freja has especially her constopated stomace and her hand tics.
We were worried about the hereditary consequences for our big girls but neither me nor David are carriers so this is a spontanious mutation. So thats good news! However the neurologist said we should wait and see cause in 20 years that awnser might be different depending on the research done!
We got some new medicine for her tummy and he also told us that if her drewling gets worse there is help to be had! 
All in all it’s a positive thing to finally have the diagnosis! It’s positive for us personally and positive in what help we now can get. At the same time it doesn’t change anything that much - Freja is still Freja and what help she needs and will need is individual and the institution doesn’t seem to know muc…

Feeling less guilty

I must admit that getting the genetic diagnosis for Freja has relieved my guilty conscience.
I was the one that was pregnant, I was the one who cared for her in my belly all those months. What if I ate something wrong or bad? What if I did something that effected her in some way? It's been really hard carrying all this around and now I couldn't have prevented this! It's a big relief for my conscience, I feel lighter!
We did some tests in week 13 of the pregnancy, in Sweden it's called KUB-test, and choose not to go ahead with amniotic tests or testning the placenta since everything seemed good! And now we know that even IF we did they wouldn't have found her diagnosis with that test cause they would've only tested for the most common diseases.
That however is a bit scary too that everything seemed okay but then it turns out that she has a pretty severe disability.
Going through everything that happened during my pregnancy I did recall one ultrasound, I did man…

Kroppsarbete

Igår satte jag upp skjutdörrar på vår garderob - det har bara tagit 2 år! 😬
Nu gjorde jag det helt själv och det måste räknas som kroppsarbete för jag var helt slut i hela kroppen  efteråt! Helt färdig!
För det första var jag tvungen att anpassa allt lite eftersom det var precis att vi ens fick in garderoberna - vi fick såga av någon centimeter i sockeln så den är verkligen från golv till tak! 
Och jag måste ju erkänna att skjutdörrarna gick verkligen bara precis in - den ena skrapar lite i taket men öppnar man den många gånger så blir det väl till slut ett spår som den kan rulla i! 😂 Det var tungt och jobbigt men nu äntligen kan det sluta damma in på kläderna och det slipper se så stökigt ut!
Det blev dock väldigt vitt därinne så nästa projekt blir nog att skaffa lite tavlor.

Pitt-Hopkins syndrome: where to start?

Well since I'm gonna do these segments in English because of the rarity of the diagnosis I better start from the beginning.
In early january 2013 our identical twin girls were born in week 37. Since identical twins are a random and rare occurence we were knocked of our feet at the ultrasound in week 19. Twins? But the babies grew and they made it past new years and did great on Apgar at birth.
They did really well developing motorskills quickly and both crawled at 6 months and walked before they turned 1 year. They started talking early and they have always talked very clearly.
Right before they were turning 2 years we started process of having a sibling. On Christmas eve 2014 pregnancytest showed positive and we started the jurney of having a new baby in the house. The pregnancy came along nicely and a few days before estimated birthdate, in late august of 2015, our baby and the twins little sister was born with top scores on Apgar.
However she didn't cry when she was born a…

Freja är 1 på miljonen

Nja kanske inte 1:1 000 000 men ungefär 1-2:100 000. Jag hade sett fram emot att få diagnosen, att kunna gå med i en föräldraförening och prata med andra som har samma eller liknande upplevelser. Att kunna vara med på familjeträffar och bara slippa att vara "själva", att vara de ända som har det såhär. Men icke... Igår fick vi brev där bara vi föräldrar kallades till barnneurologen för att diskutera resultaten från blodproverna - vi har ju väntat i 9 månader på detta så det var ju ett Halleluja-moment. Men brevet var lite kryptiskt skrivet "diskutera resultaten och hur vi ska komma vidare"... hmm... För ett tag sedan så gick vi ju in och läste i hennes journal av någon anledning och fick då se vilken diagnos det lutade mot. Vi skannade internet för information och diagnosen verkade rätt även om såklart inte alla symptom stämde - vilket de sällan gör. Det fanns föräldraförening i Sverige och familjer med barn med samma diagnos i Skåne så det kändes ändå hoppfullt p…