Axelle 7 months

My 7 months old daughter was diagnosed with CDG syndrome type 1A. For the moment all is well.

Written by julbo, published about 1 month ago.

Hello,
I am a mother of Axelle, a little girl, who was born in May of 2014. This is my first child.

She was diagnosed with CDG type 1A (congenital disorder of glycosylation) last August. That day we were relieved to learn what we had to fight against. Two days after the world was collapsing when we became aware of the possibilities of how this syndrome can develop.

After being in the hospital for suspicion of epilepsy, genetic testing was carried out. Indeed, Axelle began having seizures (myoclonus less than 1 min) at 3 weeks old. She also has inverted nipples and a distribution of fat called "atypical". She was put under Tegretol and from the first dose there have been no epileptic events. The MRI at one month old showed a slight decrease in the cerebellum and cerebral significant suburban areas. Next MRI will be at 2 years old.

Ultrasound test showed no cardiac abnormalities, liver abnormalities or kidney echogenicity. Next ultrasound exam will be in 2015.

The last clinical examination revealed a bigger than normal liver (not hepatomegaly), coagulation disorders, higher liver enzymes 1.5N, low blood sugar (but not talking hyperinsulinism) and changes in platelets, which according to her doctor, may be due to Tegretol, medium myopia, strabismus, a fairly marked axial hypotonia, growth retardation (62 cm and 6.2 kg at 7 months of age) and activity of the PMM2 1.2.

And amidst all this medical jargon there is a family that is very happy to have such a pretty and nice baby. Axelle smiles a lot (it is noted on the medical records), very easygoing, very curious about her surroundings, very attentive, voluntary. She's great. Of course, we stopped to project too far but enjoy every moment with her.

Axelle is in day-nursery and very well suited. She recognizes educators and interacts (chirping) with other children. I wanted to post this testimony to help other parents overcome this ordeal: the announcement of the diagnosis. Like reading other testimonies could help me be hopeful. We get our energy in her, her smiles, her bursts of laughter, his hugs. Do not hesitate to contact me if you want to exchange.

See you soon

Julie, a desperate mother