Beyond Achondroplasia

Growing together with Clara

March 10, 2015
by inesp.alves
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Elbow deformities in achondroplasia

Clara has a reduced elbow extension and I started doing research about the elbow´s anatomy in achondroplasia and if there could be any physiotherapy approach to improve the elbow extension. Until the moment, I haven´t found any. I found this guideline: Achondroplasia (0 to … Continue reading

February 5, 2015
by inesp.alves
2 Comments

How can sleeping position influence obstructive sleep apnea

There are many positions a person can adopt to sleep. This article will make the approach to back and stomach sleep positions (supine and prone). “In 1992, the American Academy of Pediatrics released a statement recommending that all healthy infants be … Continue reading

January 20, 2015
by inesp.alves
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BMN-111 clinical trial update

Recently, I had valid information that BioMarin announced that the measurement study is now open for recruitment again for the multicenter study. However, BioMarin didn´t change the age requirement, so children still need to be 4.5 years or older. The person … Continue reading

January 7, 2015
by inesp.alves
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Challenges of treating growth plate in children with achondroplasia

In “Achondroplasia: A view to the future options emerging from the benchside”, Narayana, J., Horton, W.A, 2013, there is a very interesting point that reflects the challenges of bringing FGFR3-based therapies to the bedside. “Despite the considerable recent progress in the … Continue reading

December 31, 2014
by inesp.alves
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Compassionate use policy for orphan drugs

“Compassionate use is a treatment option that allows the use of an unauthorised medicine. Compassionate use programmes are for patients who have a disease with no satisfactory authorised therapies or cannot enter a clinical trial. They are intended to facilitate … Continue reading

December 16, 2014
by inesp.alves
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The International Classification of Functioning, Disability, and Health (ICF)

ICF is the WHO framework for measuring health and disability at both individual and population levels. Although many things might be not be measurable!, this is an interesting summary vision of achondroplasia by the : Optimal Management of complications associated … Continue reading

November 20, 2014
by inesp.alves
1 Comment

CNP resistance in achondroplasia

Last month, while talking with Prof. Yayon (one of the world leaders in the research for a treatment for achondroplasia), I asked him about his opinion about the efficacy of BMN-111, and he answered: “Children with achondroplasia have lots of CNP”. Well, … Continue reading

November 18, 2014
by inesp.alves
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Understanding clinical trials

This is a quite delicate subject once I´ve realized that many people, specially parents, see clinical trials as a way to convert their children or themselves into guinea pigs. Well, the goal of a clinical trial is to improve health … Continue reading

November 1, 2014
by inesp.alves
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Statins for achondroplasia update

I contacted Professor Noriyuki Tsumaki, the head researcher for the study of the use of statins in achondroplasia, also mentioned in a post here. I kindly got  the following asnwers: “Statins should not be used in children because statins decrease cholesterol, … Continue reading

October 23, 2014
by inesp.alves
1 Comment

Unlock achondroplasia

The online RE(ACT) Community is organized around four main axis dedicated to research on rare and orphan diseases: Learn, Meet, Share and Support. Learn from the knowledge and experience of other researchers and patients; meet other researchers and facilitate the … Continue reading

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