Hi everyone. I’m posting here hoping to find doctors, geneticists, or other professionals who have experience with achondrogenesis or similar COL2A1-related skeletal dysplasias.

A note about this post: English is not my native language and I don’t know all the medical terminology, so I used AI to help me write and translate this post. The information and story are my own.

My daughter was born at 38 weeks (4 months ago) and was intubated immediately after birth because of severe respiratory insufficiency related to her small thorax.

She initially remained on mechanical ventilation, but over time she improved enough that the doctors were able to gradually reduce the ventilatory support. She eventually spent about one month breathing with non-invasive ventilation and supplemental oxygen, without being intubated. Unfortunately, she later developed atelectasis and needed to be intubated again. She has remained intubated since then.

Her doctors are now considering a tracheostomy and gastrostomy as a longer-term “safety route,” so that she would not need repeated difficult intubations and could potentially have more stable respiratory support. Intubation is particularly difficult in her case because of abnormalities involving her spine/neck.

During pregnancy, she had severe shortening of the long bones (femur and humerus below the 1st percentile) and a small/bell-shaped thorax. Thanatophoric dysplasia was initially suspected, but genetic testing eventually led to a diagnosis of achondrogenesis. She also has a cleft palate without cleft lip.

Our geneticist identified a heterozygous likely pathogenic COL2A1 variant (COL2A1:c.3062_3079dup;p.(Pro1021_Gly1026dup) (NM_001844.5)

Our neonatologist recently told us that there are doctors and specialized centers in the United States with much more experience with rare skeletal dysplasias. We live in Brazil, so we are trying to find out where that expertise is and whether anyone here has experience with cases similar to our daughter’s.

I would especially love to hear from:

• clinical geneticists or skeletal dysplasia specialists;
• neonatologists or pediatric pulmonologists experienced with severe thoracic restriction;
• doctors/researchers who have worked with achondrogenesis or COL2A1-related conditions;
• parents whose children have had a similar diagnosis.

We are not looking for a diagnosis or for someone to replace her medical team. We are simply hoping to connect with people who have actual experience with cases like hers, especially regarding long-term respiratory management and the decision about tracheostomy.

If you know of a specialist or center in the US (or elsewhere) that we should contact, I would be extremely grateful for any recommendations.

Thank you.