Beyond Achondroplasia

Growing together with Clara

October 20, 2016
by inesp.alves
3 Comments

BioMarin presents report on phase 2 study of Vosoritide

BioMarin presented on the 19th October 2016 a press release on the data for Vosoritide in phase 2,  during the ASHG 2016 meeting. There is no overall novelty in this latest press release (19th Oct 2016) when comparing to the previous press … Continue reading

October 9, 2016
by inesp.alves
0 comments

Multidisciplinar assessments for achondroplasia by ALPE Foundation

ALPE Achondroplasia Foundation is based in Gijón, Asturias, north of Spain. It was founded in 2000 by Carmen Alonso, Miguel Lopez and the Press Lewis family. Now, the work done in the ALPE clinic is also accomplished by the support of James Healey. The … Continue reading

June 18, 2015
by inesp.alves
1 Comment

BMN-111 – 6 key tidbits

Comments by Mark Schoenebaum, Biotech/Pharma analyst since 2000 MD, Johns Hopkins School of Medicine, 2000 BA, Indiana University, 1995 6 key tidbits:  1)      Phase 3 could enroll 50-100 patients and could be ~1 year in duration. Patient natural history could serve … Continue reading

March 25, 2015
by inesp.alves
1 Comment

One day of Lucas

Lucas is a 12 years old spanish boy who is crossing the lengthening process. This is a short film about one of his days. He is brave. He makes others feel braver… No need of translation.   Some words from … Continue reading

March 21, 2015
by inesp.alves
1 Comment

Waiting pays off

Since September we lived with a new short-term goal: solve the hematoma problem. It have been quite strange months, almost like living in a limbo, trying to do our best to prevent new falls and head bumps. It was hard. … Continue reading

March 10, 2015
by inesp.alves
0 comments

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

March 1, 2015
by inesp.alves
2 Comments

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

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 27, 2015
by inesp.alves
0 comments

Physical Activity in Children and Adolescents with Achondroplasia

The departments of Pediatric Physical Therapy and Exercise Physiology and the Pediatric Orthopedics of Wilhelmina Children’s Hospital, University Medical Center Utrecht, The Netherlands, published in 2007 a study that collected data of response to exercise and muscle strength compared with healthy … Continue reading

January 20, 2015
by inesp.alves
1 Comment

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

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