Beyond Achondroplasia

Growing together with Clara

March 1, 2015
by inesp.alves

Surgical treatment for cervicomedullary compression among infants with achondroplasia

Dr. Shimony’s team published on the 17th of February 2015 in the Childs Nerv. Syst. journal, an article about respiratory failure being responsible for most deaths among children with achondroplasia and that it is often related to cervicomedullary compression (CMC). … Continue reading

September 25, 2014
by inesp.alves
1 Comment

Anual MRI

Since the surprise from the results of the first MRI, when Clara was 9 months old, that anxiety was always there on the other two times Clara was submitted to this exam. The sedation procedure with inhalatory anesthetic is smooth and painless … Continue reading

January 14, 2014
by inesp.alves

BMN-111 phase 2 – the first patient

January 14, 2014 Press release BioMarin Doses First Patient in Phase 2 Trial With BMN 111 for the Treatment of Children With Achondroplasia BioMarin Pharmaceutical announced today that it has dosed the first child in the Phase 2 trial with … Continue reading

May 4, 2013
by inesp.alves

Not “just short”

I remember when our geneticist doctor said at the moment she became suspicious about Clara condition of having a skeletal dysplasia: “She only be short”. Well, unfortunately that isn´t true… Having a skeletal dysplasia as achondroplasia, is much more than … Continue reading

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