OUR STORY Our story started in November 2012 when we discovered we expect a baby. There was no surprise - we planned to have bigger family. In January 2014, first ultrasonography (sónar) showed 5 mm of NT (nuchal scan-quantity of fluid collecting within the nape of the fetal neck). *hnakkaþykt* After calculating risk for any Trisomy - we wen´t out of hospital knowing that we have 1 on 14 chance to have a child with Down Syndrome. It was shocking, there is no one suspecting without doc checking, to have a long-sick child. But we knew we want to have our baby, doesn´t matter if with syndrome or not. After a few days we had a prenatal diagnosis (rannsókn á fylgjusýni (CVS)) that reject Trisomy changes. In about 22 week of pregnancy I start to look like a balloon - for this was only one diagnosis - polyhydramnios (too much of amniotic fluid, with my extra 7 kg of fluid Eydis had there a huge swimming pool). I had to check in every month in Reykjavik, in hospital on maternity ward. Eydis was born six weeks before time by C-section, her heart rate was too high. She was for 13 days on NICU/vökudeild (where she got a great care. We are so thankful for what they did for Eydis/us), but unfortunately (in our opinion) she was send home to early. Then the really hard time started: Eydis cried for about 2 months, she did not gain any weight and she was weak. Doctors suspected allergy for cow-protein so she drank SOYA milk. Soon later we got an appointment with baby specialist in Reykjavik, that is guru in a hard cases. Eydis had no eye contact, no reactions for sounds, did not want to eat (losses weight - that is why she got an G-tube). First DNA test came out fine, but we met a genetic doctor in a baby hospital who almost right away knew... Second DNA was positive: Eydis has CFC syndrome, changes in MAP2K2 (shortly MAP2). Mutations in MAP2K2 are thought to account for approximately 6% of CFC syndrome cases. We were very relieved to have an answer, inside both of us knew that there is something not right. We hope that the hardest part is behind us. We need to control any changes on Eydis body, regularly visit specialists like: heart doctor, dermatologist, eye-specialist, nutritionist, speech therapist (in the future more). Here, in the place we live we get physiotherapist, social educator, great care in kindergarten (where she can enjoy herself) and local health care. We are very thankful who support us, it means a lot. *When we were waiting for DNA results I found on polish website personal blog of mom who has a CFC syndrome girl. It really helped us to read experience of this woman and relax little bit. We have a hope that Eydis - Facebook site will do the same to other moms.
Posted on: Thu, 02 Oct 2014 21:05:30 +0000
Recently Viewed Topics
© 2015