Melissa

Caudal Regression Syndrome does exist and it's also known as sacral agenesis or hypoplasia of the sacrum. It's a congenital abnormality of the spine and is found at a rate of 1 in 25000 births.

Your sons problems sound as though they are at the less serious end of the spectrum since it can cause double incontinence, colostomy, serious deformity of hips and legs, amputation of legs, complete paralysis and so on. I am not trying to belittle your sons issues, only put them into context a bit. Its not the same as spina bifida. I assume the spinal cord tethering is at the same point in the lower spine as the caudal deformity?

Bladder stones are common in people with bladder damage or urine flow issues. I know you are upset about the delay in identifying his stones but now that you know he is going to have a tendency towards developing them, perhaps you can work with the doctors to manage this better. Diet and fluid intake are important factors as is the specific bladder abnormality he has. It may be that it's best to leave things as they are and manage him to minimise stone production, then deal with them as they arise when they are small. Alternatively there may be other interventions that could help such as self catheterising or other in dwelling catheterisation or other bladder surgeries. If his constipation can be managed with fluid, laxatives and diet that may be enough otherwise alternatives may be out there such as using suppositories and manual stimulation to get his bowels into a regular movement pattern.

I think you might want to look for a proper evaluation of his biomechanical issues from his hips down to identify is there are any other mechanical problems that could be assisted with physiotherapy or braces for example - I guess this may help to prevent problems associated with biomechanical defects later in his life. The fact that his hips are small may be of no great significance itself.

The spinal cord tethering is the greatest potential issue. If it is damaged in the future as a result of the tethering, your son could lose more function - in the same way as a patient does when they have a spinal injury at a lower point in their spine. I think I would be asking for a full assessment of the current state of the tethering along with his future prognosis, especially as he physically grows over the next 10 years. Again, there may be surgical interventions that can be done now which may reduce any future risk. Alternatively, it may be that he has little future risk of complications.

I hope that helps.