As I mentioned before, Nova was born with a rare condition called arthrogryposis. But what is this and what does that mean for her and for us?
Arthrogryposis Multiplex Congenita (AMC) or just arthrogryposis describes a congenital stiffness in at least two joints. AMC develops between the 8th and 12th week of pregnancy and there is a variety of causes: infections, short term insufficient blood supply of the fetus caused by for example an accident, genetic reasons and many more. We do not know the cause for Nova’s AMC, but it is most likely not genetically.
There are different forms of AMC, I want to narrow down on Nova’s form. She got assigned to the “amyoplastic type”. As a matter of fact it is a neuro-muscular condition that has its origin in the spinal cord. Some specific cells, that are responsible for the innervation of the skeleton muscles, are missing. That is why some muscles develop normally, some are underdeveloped and some are missing completely and are replaced by connective tissue. That causes contractures and as a result malformed joints. So it is “only” secondary an orthopedic condition.
Each patient is differently affected and that is why each patient is unique. In some, only the legs/feet are affected, in some only the upper extremities, in some all 4 limbs and in severe cases even the spine is affected. About 1/3 of the children, that are born with AMC, do not survive the first 6 months, because the diaphragm is affected and independent breathing becomes impossible.
But there are some specific malformations of joints that a re very typical and allow the diagnosis straight after birth. In countries, that have highly developed prenatal diagnostics, AMC can be detected already during pregnancy with the help of ultrasound examinations. Sweden does NOT belong to these countries, I will write about this separately.
AMC has four characteristics: it is worst at birth, it is not progressive (it does not get worse), it usually is not painful and the classic AMC-patients are pretty intelligent.
In Nova’s case only her extremities are affected. Her spine and diaphragm are unaffected – fortunately! Her shoulders are stiff though, during the first 6 months she could not lift her arms at all. Today she can lift them as high as up to the top of her head 😉 Her elbows have full range of motion, but her wrists were bent down and extremely stiff, they did not move a millimeter. Already on day 5 of her life, Nova got her first splints for her wrists at nights and the treatment was so successful that today she has full range of motion in her wrists and she did not have to wear the splints since last march.
Nova’s hips were dislocated and not just a bit, the femoral head was far away from the acetabulum. That is why she had to undergo a major surgery pretty much exactly one year ago. It really was a big thing, where she had to be in a stretching bed for 2 weeks prior to surgery, a huge cast and so on. I want to post about this another time as it was such a big thing. Nova knees are also affected, she can bend the right one about 100 degrees and the left one about 80 degrees. It is absolutely necessary to be able to bend the knees, if one wants to climb stairs and that is why Nova has to wear long, right angled splints during night time, so her knee joints get stretched to a maximum. She usually tolerates them quite well in the evenings, but at latest around midnight I have to take them off, as she gets bruises on her ankles. Right now, new splints are being made.
Nova’s feet were stiff clubfeet, pointing 180 degrees backwards. Her feet are also much smaller than the ones of kids in the same age. After several surgeries (amongst other things her Achilles tendons have been cut through two times already), she now can stand with the help of splints, but we are far away from calling them good. The next surgery will probably be done in January, I will know more on Friday after the meeting with the specialist team.
I hope, I could give a good overview about arthrogryposis in general and especially Nova’s case. I will definitely tell more about treatments and progresses in detail in the future, but I think this was quite a lot as a first information.
Have a good day!