Gabriel was born March 7, 2011, joining his big sister, Serenity and completing our family.
Robert and I were informed during our 17 week ultrasound that something was not right. We were told that his legs were not moving and were in an abnormal position and he had clubbed feet. His hands were also clenched in fists and he had a slight amount of fluid in the left ventricle of his brain. Our hearts broke…our excitement over having a boy and all the fun things we would do with our children vanished in an instant and fear consumed us…
Pre-Delivery Medical Journey
We had an amniocentesis performed to see if that could tell us anything further and/or rule out some things it could be. All tests came back normal so the doctor told us it was possibly a condition called ArthrogryposisMultiplex Congenital (AMC) – try to say that 3 times fast! AMC is an umbrella term used to describe someone with multiple contractures (stiff joints). Stiff joints lead to low muscle tone/atrophy and tightened tendons.
Therapy and surgery are performed to help with function and gain range of motion and strength. There are over 400 types of AMC; Gabriels type is unknown. Most types do not worsen if you continue with therapy and stretching and do not affect mental development.
We found a wonderful online support group www.amcsupport.org that was the only source of information for us. Unfortunately, our prenatal doctors did not know anything about it. The site and the other parents gave us hope but we were still so very scared. We searched day and night trying to find out as much as we could to prepare as best as we could for when Gabe was born.
Gabriel’s Birth
Gabriel was born 5 weeks early with clubbed feet, left hip dislocation, contracted knees, his hands clenched in fists as well as low muscle tone throughout his body. Approximately 24hrs after he was born we had X-rays done on his legs as he would whimper each time he was moved. We were very concerned about the recommended stretches the therapist and doctor wanted us to start doing.
Sadly, both of his femur (thigh) bones were broken. The orthopedic doctor came back the next day to apply a spica cast from his belly button down his legs and feet. The cast was changed after 2 weeks, and then weekly, as they worked on straightening his feet and also attempting to get his hip in place. This continued until he was 3 months old and could have his first surgery, consisting of cutting the Achilles tendon on both feet to release them for proper position.
The doctor also attempted to put his hip back in place with a closed hip reduction. The hip surgery was not successful but he was still casted for 6 weeks following surgery, again from around his belly button all the way down around his feet. He has had 4 additional surgeries on his left hip/leg, 2 more on his feet and one on his hand/arm, along with a few others. He has also fractured each femur a second time, which prompted one of the doctors to suggest bone infusions to help strengthen the bones. He had a port placed and monthly infusions for the following 3 months to help strengthen his bones to hopefully prevent more fractures. So far it seems to have worked!
Genetic Testing Leads To SMA
When Gabriel was about 9 months old we went to an AMC conference where we met a leading Geneticist and coauthor of the Arthrogryposis Text Atlas. She suggested we join a genetic study that a company was doing about AMC and other muscle disorders. We were told we may never hear back from them, or it could be years down the road; however, 9 months later we received a call telling us that they found a Mutation in his Dynein gene (DYNCH1N1).
This mutation has been associated with other conditions but was a very new gene mutation they were finding and couldn’t give us much more information. We followed up with our geneticist and started seeing a neuromuscular specialist who diagnosed him with Spinal Muscular Atrophy – Lower Extremity Dominant (SMA- LED) in addition to the AMC.
He does not have much movement in his legs and will always need braces in order to be able to attempt walking as he cannot bear any weight on them. His right leg is also shorter than the left leg due to his second femur fracture not healing correctly. His preferred method of moving is an “army” crawl using his forearms to pull himself along the floor. He learned how to get into a sitting position from lying down just two months ago which was such an exciting moment for us!
Looking Forward
He is developmentally and speech delayed about 2.5 years which is uncommon for both AMC and SMA. No doctor that has ever seen Gabriel has seen a case like hims, so we have no answers for his future – not that there are ever any guarantees in life. We are told to go by past performance and he has not declined (except all surgery and castings set him back some) so we are hopeful that he will keep advancing in all areas with our diligent efforts.
He receives physical, occupational and speech therapy 2-3 times a week in a clinic. We are looking to start aqua therapy and hippo therapy as well; however, they are not covered by insurance and are costly. We also do stretching and work on all areas of strengthening and development throughout the day as much as he can tolerate. He attends a Rehabilitation preschool and is in his second year. He is improving in many areas, but still very behind. Gabriel has seen over 15 doctors and therapists, had 13 surgical procedures, been under anesthesia 10 times, had over 40 x-rays, 2 helmets, 6 sets of foot/leg braces, 4 hand splints and more than 40 casts.
Currently, we travel to Shriners Hospital in Philadelphia, PA to see Orthopedic Specialists that areknowledgeable about AMC. We also see a Neuromuscularspecialist in Orlando and a Geneticist in Miami along with a gastroenterologist, pulmonologist and ophthalmologist locally.
Gabriel has a manual wheelchair but cannot use it for long as he fatigues easily. We were also given a walker from another family who’s child grew out of it. He is not yet able to self propel it, but we are working diligently with him. We are in need of a new van, but are trying to hold out as long as possible to ensure we get what will be best for him and his equipment, etc.
He will most likely need an electric wheelchair in the not so far off future, as he cannot maneuver the manual wheelchair on many surfaces, and cannot use it for any extended period of time. As he gets older we hope he will want to be more independent and mobile. We also need adaptive bathroom equipment as he is mostly potty trained (YAY!) but is getting too big for the little potty chair and is not stable enough for the regular toilet.
Financial Challenges of Caring For Gabriel
When Gabriel was born I had to stop working to care for him and take him to his weekly doctor appointments and daily therapies. My husband was working 50+ hours a week and we have insurance coverage through his job, but it still was never enough. Not being able to work and losing about half our income was a huge financial strain on our family and we tried our best. Regrettably, we were forced to use all of our savings and maxed out all available credit cards trying to keep up.
We lost our home and were forced to file bankruptcy. We lived with family for a while, and then found a rental for a year. We are not living with family again as we had very short notice that the landlord was selling our rental home. We had already enrolled our daughter in kindergarten in the neighborhood, and it is nearly impossible to find a rental that will accept us because of our bad credit. Our rental would also need to be single story or on the first floor. We would love to be able to purchase a home, but with such an uncertain future (schools, doctors, surgeries, equipment, accessibility needs) it is very difficult. But then again, so is moving every year.
Overall, Gabriel is such a happy kid who just wants to play and have fun! He loves trains and being outside. His vocabulary is improving each day (especially when it’s something he wants! J) and so are his physical abilities. He is just starting to get frustrated with things that he cannot do that other children his age are able to do. He doesn’t like to cooperate with therapy even when it’s fun because he knows it’s “work” and he just wants to do what he wants to do like any typical 4 year old.
We are so very blessed with a lot of support from family and friends and even people we’ve never met before and are so grateful for everything we have. We hope that one day we will be able to pay it forward! This is not the life we ever imagined for our family. We try to take each day as it comes and focus on how far Gabriel has progressed!
He has taught us so much about strength, hope, patience and so much more, and we are so grateful for each day with our amazing children!
Robert, Meghan & Serenity Castle