Me and my husband gave birth to our first child on Midsummer Eve 2007 (22nd of June), a wonderful babygirl who we named Freja. We had had a normal pregnancy and delivery. Freja weighed only 2900 gr and her length was 48 cm. Immediately following birth, the doctor started an investigation regarding 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 had wide cranial sutures, single palmer 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 didn´t find anything she was declared healthy ten days later.
Since birth Freja has always been difficult feeding. Freja ate on her own and she did gain weight, but is was really hard work for us. In October 2007 Freja started having small, very small, seizures and a new massive investigation started due to this. EKG was normal. EEG was normal. Bone X-ray was normal. Ultrasound liver and kidneys - showed enlarged liver, otherwise normal. The CT was normal - no deformations. ABR was not normal, it showed Freja had severe hearing loss on both ears. VEP was OK but ERG confirmed Frejas vision loss. In October, we received the diagnosis - Zellwegers syndrome - and the news that she probably will not live longer than 6 months, maybe 1 year. Skinbiopsi was made 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 something. Our doctor, considered one of Sweden's foremost in this field, had previously only met 1 child with Zellweger - 20 years ago.
Freja has very poor vision and hearing, very low muscle tone, epilepsy, feeding problems and also liver involvement.
We came after intensive exploration from our side in contact with Dr Manuela Martinez in Barcelona. In January 2008 we travelled to dr. Martinez, Freja became part of her research team and also started her DHA-treatment. Our hopes were that the DHA would produce positive results - particularly regarding the liver, vision, muscle tone and myelin development.
Dr. Martinez is an amazing woman with a large commitment to our children. As we understand it it is important to start DHA-treatment as soon as possible, every day is important. Due to the DHA-treatment Frejas liver is already feeling a lot better and she has also become much more secure, social and harmonious.
We hope strongly for more positive results eventually. I strongly recommend that parents in the same situation should contact dr. Martinez her promptly.
In February 2008 we did the MRI. It confirmed the results from the CT but it also showed that myelination was less than normal.
In February 2008 Freja started having small cramps again. We started giving Freja anticonvulsants but they only made Freja worse. We tried 3 different anticonvulsants: Iktorivil, Topimax and Sabrilex. Sabrilex had a slightly positive effect on Frejas cramps but the side effects showed to be much worse than her seizures and in the end of October 2008 Freja finally quit her anticonvulsants. It was a very good decision, Freja became happier and more communicative. In February 2009 the EEG showed increased epileptic activity and we will probably have to start anticonvulsants again. This time we will try Keppra and we will start in a very, very low dose.
Freja is growing really well. Her last weight in January 2009 was 10,9 kg. But Freja is very week in her muscles and that is very worrying. Probably her weight makes it even harder for her... Good things also seems to have their disadvantages. Freja loves aquatic therapy, the water makes it easier for her to move.
Freja also love playing in her "Little room". She really enjoys that. Read more about the wonderful "Little room" at http://en.wikipedia.org/wiki/Lilli_Nielsen
In June 2008 Freja underwent surgery for the G-tube. This was a hard decision to make but we are today very happy we did it. Having the G-tube is a big relief. Freja still eats full meals on her own (when she wants to) but the pressure on us is easier.
In January 2009 we finally received the answer from dr. Wanders in Holland. He confirmed the diagnosis and the fact that both me and my husband has a peroxisomal genetic defect. Not exactly the same but unfortunately in the same gene. The genetic defect is in PEX1, the most common one. This means that prenatal testing and also PGD is possible to do if we wish.
Our next project is CI-implants. We are for the moment considering CI but the surgery has been postponed due to Frejas coagulationsproblems, she has prolonged APT-time. This is however under control and Freja will probably do the surgery in February 2009. Unaided Freja can hear lower frequencies at 75-85 dB and higher frequencies at 100 dB. When Freja hear us she shines up. She is very communicative, she listens and talks back to us - some days more and some days less.
In December 2008 Freja started attending a kindergarten for children with special needs. 4 days a week, 6 hours per day. Having this opportunity is truly wonderful – both for Freja and her wellbeing but also for us parents as it gives us some spare time. In January 2009 Freja got her first standing braces and we hope this will help strengthen her body. It is also very important for the body and its internal organs to be in an upright position.
Freja is the world's cutest and she thinks that life is wonderful and definitely worth living. We are so grateful for still having Freja with us and we enjoy her every day.
If you wish you can use “Google translate” to translate the website into your own language.
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