Both our girls have the same diagnosis, Arthrogryposis Multiplex Congenita (AMC), but they’re affected quite differently. So, what is AMC exactly?
Here are a few excellent visuals from AMCsupport
Basically, it’s a condition where a person has multiple joint contractures. Joint contractures involve significant shortening often of the muscles and soft connective tissues near the joints affected.
And what to do about those contractures?
First: therapy. The girls go to therapy three times a week, for about six hours total. Therapy is a huge part of the girls’ lives. We love their therapists. They are former coworkers, friends, and counselors ;). We try to incorporate therapy objectives at home and are in constant communication with therapists. They share things the girls are working on and encourage practice of these skills at home. We share challenges at home that we need help navigating through therapy. We value therapy. Therapy changes lives.
Second: Alternative treatments or therapies.
BOTOX (BOTULINUM TOXIN) INJECTIONS: For some kids with AMC, Botox can relieve muscle tightness surrounding joints, and thereby improve range of motion.
The girls’ Botox treatment plan has been dovetailed with therapy for years now. Their orthopedic surgeon receives detailed information about the girls’ process from their therapists and from us parents. Based on an office visit evaluation and this information, their surgeon creates a very detailed and specific plan of care to address the girls’ tight joints and muscles literally from head to toe. This creates a very holistic and collaborative care plan that has truly benefited the girls over the years. In fact, as Eva does not tolerate serial casting, Botox in conjunction with therapy and AFO management has changed the shape and alignment of her feet so much that they are now neutral (no longer clubbed).
The decreased muscle tone that is achieved through Botox injections lasts anywhere from 3-6 months for our girls. Because of this, the girls receive injections 3-4 times yearly and different muscles are injected during the progressive procedures. For example, Eva has some very tight great toe flexors, but they are not injected at every Botox appointment. The girls’ therapists are able to take advantage of the girls’ improved alignment and the “deactivation” of muscle groups that want to “take over” and create improper movement patterns. This allows the girls to isolate, activate, and strengthen under-utilized muscles and then to practice using all their muscles together more functionally.
HYDRODISSECTION: Hydrodissection is a scary word that is actually a very non-invasive and simple treatment technique in which a shielded needle is guided by ultrasound in between layers of soft tissue and a normal saline solution is injected, disrupting adhesions. This is a common noninvasive treatment used to relieve adhesions in the carpal tunnel.
The girls undergo hydrodissection procedures periodically to relieve adhesions between their soft tissues. They have had hydrodissection along the following areas: heel cords, quadriceps, pectoralis majors, triceps, wrist flexors, IT band, and finger flexors.
We have found that the girls consistently gain and retain the most range of motion from a combination of Botox injections, hydrodissection, therapy, and splinting.
SERIAL CASTING: I am a big fan of serial casting. As a therapist, I prefer non-invasive procedures to address decreased range of motion (ROM). The Ponsetti Method is very popular. The basic idea behind the casting is to stretch the foot to just about its end range and then hold it still in a cast to maintain a constant stretch. The cast is removed after a set amount of time and the foot is stretched again and re-casted. This procedure is repeated and the patient is fitted with a series of casts that gradually bring the foot to a neutral position and correct the clubbing. We tried serial casting a couple of years ago to help get Eva’s heels “down” and in less of a ballerina position. By the second progressive set of casts, Eva’s feet began to slide up and she started forming pressure sores. This treatment is popular and a great non-invasive alternative to surgery. However, this treatment didn’t work for Eva.
ORTHOTICS: For the last year now the girls have been receiving orthotic care from Hanger Orthotics. Their orthotist, whom the girls adore, collaborates with us and the girls’ physical therapists in order to best manage the girls’ orthotic needs. Both girls wear ankle-foot orthotics (AFOs) just about 24 hours a day. These orthotics help the girls to maintain a good foot position and also provide the stability the girls needs in order to do transfers, stand, and walk. The orthotics have hinges at the ankle so that at night the girls can apply a little extra stretch to their feet. The process of casting, measuring, choosing the best splint base model, and making adjustments is so much work! Our therapists are great to take the extra time to communicate with our orthotist, and our orthotist fine tunes and adjusts the AFOs until they are the best fit possible for static and dynamic uses.
PODIATRY CARE: Due to the girls needing to wear socks and AFOs on their feet for so many hours, we had a consultation with a podiatrist in order to get instructions for the best way to maintain foot health. We learned how to best trim toe nails and how to keep a healthy foot/sock environment to decrease the chances of bacterial or fungal growth. Yuck, I know, but helpful. The best tip was such a cheap option: dust the girls’ socks with corn starch to keep them dry. A dry environment doesn’t facilitate the growth of gross stuff.
DIET: No one likes the idea of a diet, but when your diet is just how you eat 100% of the time, it’s more like a lifestyle. Our food lifestyle is primarily aimed at decreasing inflammation, specifically bursitis, and to encourage healthy muscle mass growth. We eat a high healthy fats, extremely low cab, high fiber, and high protein diet. There are a million websites with suggestions on what you should eat, when you should eat, how much you should eat, and for what reason. This is simply the diet that works best for our family’s needs. It’s certainly not travel or holiday friendly, but the benefits outweigh the challenges.
SUPPLEMENTS: Vitamins and supplements can really get out of control. You could take a million and they can be pricey. We try to keep it pretty simple. Each night the girls take a chewable multivitamin (ideally sugar free and no food coloring), two omega-3 fatty acid gel tabs (ideally from wild-caught fish), and a vitamin D gel tab (we only buy Carlson brand). They also take an epsom salt (Magnesium Sulfate) bath about once a week. The vitamins and supplements are to ensure that if something is missed in the girls’ diet that they’re at least getting the daily value of what they need and also to promote their best whole body health.
OILS: I know a lot of people who maintain their essential oil supply and use them daily to promote health and even to treat illness. I think that’s great. We use them occasionally. Just after Audrey’s incision closed on her right foot, we used oregano leaf extract diluted 1:10 with coconut oil to inhibit bacterial growth. We also occasionally use lavender due to its calming effect. And we moisturize the girls’ skin with coconut oil and/or beeswax products and avoid petroleums.
RADIO FREQUENCY HEAT THERAPY: This is a totally new treatment (to us) that Audrey has started. I heard about this from a family friend. Her husband had some subclavicular radiation scarring that was drawing in his pecs and also his shoulders. His radiologist treated one scar with a ThermiRF system in the hopes of improving vascular health and thereby also improving the skin health, tissue health, and mobility. The difference between the treated side and non treated were obvious even at a glance. Because Audrey still has some decreased scar mobility post-op, we went to an open house to consult with the radiologist. She was so kind to give her time and sit and talk therapies, scars, and alternative treatments.
Audrey began treatments in July 2017. Prior to her first treatment, her physical therapist documented her range and assessed her scar mobility. A pre and post assessment have determined that the Thermi treatments are very effective for Audrey. Both her range of motion and her scar mobility have improved.
Thirdly: surgeries. If something is in the wrong position, there’s a surgery to fix it. Eva could have 50 surgeries to get her body aligned in a more typical position. And maybe she will eventually. Currently, we want to hold off on surgeries and see if therapy in conjunction with Botox can be effective. Kids’ bodies don’t care that they underwent laborious and intricate surgeries. They will continue to grow and their bodies will want to go back to their original positions which means a lot of kids have to have surgeries “redone” as they grow. We want to try and avoid that. If possible. Maybe it’s not possible, but we want to give it a try.
Audrey on the other hand, has has both of her clubbed feet surgically repaired and in the future might be a good candidate for upper extremity procedures as she has innervation (her brain can purposefully activate muscle use) to her distal muscles.
There’s also this conundrum: you can surgically fix Eva’s elbows and arms so that she has wonderful alignment and more elbow flexion. But she can’t activate muscles in her lower arms and hands/fingers so why do the surgery if it won’t improve overall function? She’ll look more normal (minus scars) but still won’t be able to feed herself. Or, will Eva start to use her lower arms and hands if she can bend her elbows? We just don’t know the answers to that. So, we wait on surgeries until it’s our last option.
DISCLAIMER: this information is very specific to our girls’ presentation of AMC. Daniel has a finance degree and I’m an OT; we are not surgeons. This is simply our current philosophy for Eva’s care, and we do not recommended/suggest/browbeat/force/guilt-trip this philosophy for anybody else.