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 and I kept asking if there was something wrong with her but no she was doing great. When she was about a week old she got a small cold and she was rattling when she was breathing. That rattling stuck and the first year of her life I kept going to doctors asking why and if they couldn't do something for her but no her lungs sounded healthy so it was probably nothing.

Her eyes were skewing a bit but not enough for concern apperently. And when we were at the 6-month check up weirdly enough the pediatric nurse didn't react to the fact that she couldn't sit on her own and hadn't started at least sitting in a crawling position. We thought it was strange since the twins were crawling by now but we were told that all kids develope at different pace so just be patient.

But when she still couldn't do these things at the 8-month check up concerns were raised and we were sent to a investigating team where she met a psysiotherapist who was helping her control her movements and showing her where to go next. We went there for four months before a child psycologist were involved in order to get us in to the right institution.

In Sweden all kids with disabilities are connected to an institution who specialices in these diseases and conditions, and they are involved in all aspects of those childrens lifes; at the daycare, in school, at home and so on. But you need a diagnosis in order to be eligeble for that habilitation institute (Hab as we call it for short). However if a child psycologist writes a referal about the child you can get in anyways and that's what happened to us, thankfully.

Hab has helped us alot with different aids and different exercises to do with Freja to help her motorskills. In Sweden you borrow the aids for free and return them once the child has grown out of them. There is a Hab for adults as well so that help will always be there now that we're in the system.

Around christmas 2016 she started sitting on her own, but she couldn't sit her self up so we had to help her. In january 2017 she started daycare with the help of a special resourse person to help her since she couldn't get around on her own, not eat with a spoon or fork, not drink from a bottle with handles and so on.

For a very long time nothing big happened development wise. Then she turned 2 years and a whole bunch of stuff happened. She could use her feet to turn in a cirkle while sitting on the floor, she started reaching up with her arms when she wanted to get picked up, she started sitting her self up from lying on the floor, she started getting in a crawling position and within a week she started crawling. Such a happy moment filled with happy tears... She crawles all around the house now and she is so fast you gotta watch out. A few times she has actually grabbed something and stood herself up. And that's where we are now.

We got the diagnosis confirmed yesterday, Pitt-Hopkins syndrome, and I was a bit saddened since I had decided in my head that it was gonna be Angelmans syndrome, witch isn't as rare. Here in Sweden there are fewer than 20 known cases with PTHS so... one of the few...