Atlantoaxial Instability is a condition that is more prevalent in people with Down syndrome than the general population. It results from ligament laxity and low tone which affects a key joint in the neck. The condition can lead to serious health effects including sudden death. While many people become aware of this condition around the time they register for children’s Special Olympics programming, it is important to continue screening for symptoms throughout adolescence and adulthood. The condition can develop at any time and if left untreated can result in life-altering consequences. We encourage everyone to review the recommended health supervision guidelines with their medical support team.
A couple of personal stories from members of our community reminded us of how important it is to monitor for atlantoaxial instability even in adults:
Danny is a 32-year-old man with Down Syndrome. I am writing this with hopes that every single parent or caregiver of a person with Down Syndrome can learn from our experience and obtain appropriate monitoring for their loved one.
Danny was full of life- loved to play jokes, talked all the time, was active in Alpine skiing, swimming, golf, fishing, water sports, snowmobiling and more. He is competitively employed.
The family was starting to notice changes in his personality. He was becoming quiet, withdrawn, barely taking, stuttering, using hand gestures (which he never did), slowing down. We thought he had a mental illness and we started the process through our family doctor to be seen by a psychiatrist and a clinical psychologist. The psychiatrist placed him on some anti-anxiety medication that Danny hated taking. This medication made no difference. Through this process he was referred to a neurologist to see if some of the signs we were noticing were related to early onset Alzheimers. This led to an MRI of his head, and then a referral to a neurosurgeon who talked to us about seeing a neuro-orthopedic surgeon for some changes they noticed on the MRI. Another MRI was done with a dye study. All through this, we had no idea of what was going on, how serious things were. This whole process of dr-to-dr visits took over a year.
We finally were hooked up with Dr. Michael Johnson. He had Danny and my husband and I come in for a consult to go over the MRI results. What he told us left us in shock. He told us that 1/5 of Danny’s spinal cord had been permanently damaged by lax ligaments in his neck that caused a head to C1/C2 (cervical or neck vertebrae 1 and 2) instability, and that they were inflicting trauma to his spinal cord. He told us that in his opinion, Danny had a 95 % chance of a sudden death without surgery. The trauma to his spinal cord was above the breathing center. The surgery was serious and not without risk. The head would be re-positioned to the spinal cored, and fused to all of Danny’s cervical (neck) vertebrae, down as far as they needed to go to get to good bone quality. Danny would have to be anesthetized very deeply, with electrodes into his brain and spinal cord to determine if the spinal cord was able to take the movements required to straighten Danny’s head out from a forward position. There was a risk of death from the surgery. Danny’s life would be forever changed, but he would be alive. There would be things he could no longer do. Danny would likely be in hospital for up to 4 weeks and then recovering for 2 years.
Dr. Johnson showed us the MRI and showed us where the damage was. He told us he would assemble his team, handpick his anesthetist and such and that his team in his opinion was one of the best in Canada. He had worked in other bigger centers and felt the team here was the best. He told us he was the director in the operation and he made the decisions. Danny’s life was important to him. Danny was not unimportant because he had a disability.
Dr. Johnson took as much time as was needed with us. He had done this surgery before. He encouraged us to go home and think everything over and that we had to make the decision- he wasn’t telling us to do this or not to do this. He told us we could come back as often as we needed to, to discuss anything further with him. We were devastated and Danny was scared silly. We went home to discuss this with our other 2 adult children and then we went back with them to talk again to Dr. Johnson to have things explained from him to them and for their questions to be answered. We went home and discussed this again and felt there were no other options. We had to put our faith into a doctor we knew nothing about, to do a surgery that would forever change our son’s life in order to save his life- if he lived through it. We called Dr. Johnson’s office and a surgery date was made for Danny within 3 or so weeks. No waiting list for this procedure.
Danny made it through the 4-5 hour surgery like a star. He recuperated on a ward where his care was the best you could hope for your loved one. He was up and walking the next day to everyone’s surprise as usually the most they hope for is someone to be able to sit on the edge of the bed. His surgery was December 13 and he was our Christmas gift, coming home on December 23.
Danny is not the same person he used to be. He can’t turn his neck but turns his torso. Alpine skiing is risky and we have not been brave enough to let him go back to it- Dr. Johnson doesn’t say yes or no but is concerned about any falling Danny may do that could be harmful. But Danny and we are learning to live with the changes and we are grateful for every day we have with him.
Danny is living independently on his own now, with family support and some from an agency. He is content that we know of. He is important to us and we love him so much and thank God and Dr. Johnson for allowing us to still have him.
Dr. Michael Johnson is one of the kindest people I have ever met, yet alone be an orthopedic surgeon- they don’t tend to have a very good reputation for people skills!! He kneeled down beside Danny in the pre-op whilst I was talking with the anesthetist. He talked to him and stroked his head. He did the same thing in the OR as they were putting Danny under anesthesia- I was there. Danny simply fell asleep, so calmly.
My closing sentence here is that Danny had a screening x-ray for atlanto-axial instability when he was around 6 years old- they found nothing.
From another family:
Our 23 year old son recently underwent surgery for Atlanto-axial instability with spinal cord compression. He had two x-rays to check for this when he was younger and before beginning Special Olympics. both came back negative. We had no reason to suspect anything and he was showing no neurological symptoms but because he has arthritis, his rheumatologist had ordered a x-Ray following a routine exam. Based on the results, a CT scan and MRI followed immediately. We met with our surgeon a few days later and it was there that we learned he would need surgery to fuse and decompress his C1-C4 vertebrae before it progressed any further. This was also how we found out that a negative x-Ray can change over the years as our children age.
He is now recovering well and with time and physiotherapy is expected to regain about 80% of his range of motion and will soon be able to return to the activities and work that he enjoys.
Please consult with your medical team to make sure they are keep a eye out for this dangerous condition.