One of the biggest issues for those dealing with Blau syndrome is growth. For some reason Blau patients struggle with height and weight. This is a huge concern for us parents of Blau patients, there is a window of opportunity for growth during childhood and once it has passed it does not reopen.
Our daughter already has to deal with kids who do not believe her when she says her age. She is almost six years old and not yet a meter tall. There are many three year olds who are taller than her. So when I came across this 2009 article https://onlinelibrary.wiley.com/doi/full/10.1002/art.25035 first published in the Arthritis & Rheumatism journal about the use of the drug thalidomide, I was especially intrigued by Patient 2. The article states that after beginning treatment with thalidomide "we have been especially pleased that his height has increased by 8 cm over the previous 6 months."
I immediately set about contacting the author of the report Dr.Kozo Yasui. He is now Chief Manager, Department of Pediatrics, Hiroshima City Hospital. He reported that Patient 2 never did catch up in height, but attributes that to the fact that he was older when he started it. He says that the patient is still doing well on thalidomide and that the only side effect has been mild constipation and that the drug also acts as a sedative. He remained hopeful that with an earlier start on thalidomide combined with steroids and anti -TNF agents that "growth disturbance might be alleviated".
As far as I can tell, thalidomide is a drug that is rarely used for Blau syndrome in North America. The drug was used as a treatment for morning sickness in pregnant women during the 1950's and 60's with horrific results. More than 10,000 children in 46 countries were born with deformities due to thalidomide use while pregnant. The drug has started to be used more commonly again for other conditions and precautions are now taken to ensure it is not used when there is a risk of conceiving.
We are currently in discussions with our daughter's doctors about the possibility of using thalidomide to see if it assists with growth.