With my husband I gave birth to our first child on the 22nd of June 2007, A beautiful baby girl whom we named Freja. I had a normal pregnancy and delivery. Freja weighed only 2900 grand her length was 48 cm. Immediately following her birth, the doctor started an investigation for Down’s syndrome due to the fact that Freja was a bit low in muscle tone and she also had a slightly different look. Freja also had wide cranial sutures, a single palm crease and the crease at the end of her spine. She also failed her newborn hearing test. The doctors did a chromosome analysis – it was normal. EKG was normal. Lung X-ray was normal. Since they could not find anything she was declared healthy ten days later.

In September 2007 Freja started having small seizures and the doctor began a new massive investigation due to this. Since birth Freja has always been difficult to feed. Freja finally would eat on her own and she did gain weight, but it was really hard work for us. After the tests: EKG was normal. EEG was normal. Bone X-ray was normal. An ultrasound of her liver and kidneys showed an enlarged liver but otherwise was normal. The CT was normal – no deformations. But the ABR was not normal, it showed Freja had severe hearing loss in both ears. The VEP was OK but the ERG confirmed Frejas vision loss. In October, we received the diagnosis: Zellweger’s Syndrome, along with the prognosis that she probably would not live longer than 6 months, maybe 1 year. A skin biopsy was taken in October 2007 and sent to Holland.

The doctors in Sweden know very little about this disease and our doctor had neither the time nor the commitment to help us find out any more information. Our doctor, considered one of Sweden’s foremost in this field, had previously only met 1 child with Zellweger’s Syndrome, and that was 20 years ago.

After intensive research from our side, we came into contact with Dra. Manuela Martinez in Barcelona. In January 2008 we traveled to see Dra. Martinez. Freja was accepted into her research program and also started her DHA-EE treatment at that time. Our best hopes were that the DHA-EE would produce positive results – particularly regarding her liver, vision, muscle tone and myelin development. Dra. Martinez was a truly amazing woman with a large commitment to our children. As a result of the DHA-EE treatment, today Freja’s liver status is normal and she has also become a much more secure, social and happy child.

Thank you so much for helping us with continuing this treatment for Freja.

Love from Sweden,

Jakob, Elin & Freja