Grace Emma

Introduction to Arthrogryposis

Arthrogryposis, also known as Arthrogryposis Multiplex Congenita, is a rare congenital disorder that is characterized by multiple joint contractures and can include muscle weakness and fibrosis. It is a non-progressive disease. The disease derives its name from Greek, literally meaning 'curved or hooked joints'.

There are many known subgroups of AMC, with differing signs, symptoms, causes etc. In some cases, few joints may be affected and may have a nearly full range of motion. In the most common type of arthrogryposis, hands, wrists, elbows, shoulders, hips, feet and knees are affected. In the most severe types, nearly every joint is involved, including the jaw and back.

Frequently, the contractures are accompanied by muscle weakness, which further limits movement. AMC is typically symmetrical and involves all four extremities with some variation seen.

Mommy's Miracle

January 7^th, 2008 I was prepped for a scheduled c-section. My husband was asked to wait in the hall until they were completely ready to get started for the birth of our baby girl. I was ready, they had my husband come in and sit next to the head of the table. The procedure seemed to take forever. Finally, my OBGYN said to me that she was getting closer to the baby and that she could feel her. She told me she felt small like a little peanut, she then guessed she was around 6 pounds. Finally, Grace made her entrance into the world. The whole room fell quiet; I knew deep down something was wrong. I heard her cry, my deepest fear was relieved-she was alive. What was everyone so quiet for? Immediately I asked what was wrong. The doctor told me that she was ok; she just seemed a bit small and had some issues with her hands and her foot. Of course, panic set in. I asked my husband a million questions. What does she look like? Is she ok? What did they mean that she had issues with her hands and foot? I told him to take a picture and show it to me. He was quiet. He sat next to me. I knew something was not right. He didn’t tell me at that time (thank God), but he was light headed. The OB told me they were taking her to NICU, and they had to move fast. I couldn’t hold her, there wasn’t any time. I asked if I could at least see her. They agreed. She was wrapped up in the newborn blankets and brought to my face, I looked at her, gave her a kiss and they had to rush her to NICU. My husband spent the next several hours in between NICU and my recovery room. I told him to go, go be with Grace. She needed us. She was where I wanted to be. I couldn’t be with her until anesthesia wore off, and I could move or feel my toes. I tried even harder to make my toes wiggle, they wouldn’t. It was several hours before I could see my baby again, but it seemed like several days. Waiting to see Grace again was torture. Every second that went by that I couldn’t be with her was complete agony.

Finally, anesthesia wore off and I could be united with my baby girl again. I was wheeled into NICU by my husband. It seemed like we went past every single baby in the hospital before we finally got to ours. There she was, weighing only 4 pounds, 12 ounces. Her arms lay at her sides unable to move, her right foot was tucked under her left leg. She was crooked, but she was mine, and she was beautiful. The doctors had her on oxygen, and for the 1^st four days she would have apnea and she would occasionally stop breathing. Leaving her was torture, I was so unbelievably scared that I would leave and she wouldn’t be there when I came back. Every type of doctor you could imagine came in to test Grace for anything they thought she might have. All chromosomes were normal, her heart- normal, her brain-normal, her spinal column- normal, nervous system- normal. They had absolutely no answers for us. We spent the next 9 days in NICU with Grace, occasionally leaving to eat or shower. I will never forget the looks we got from some of the nurses, as if we did this to our baby. I remember one time we came in to see Grace and a nurse was being very protective of her, another nurse told her it’s ok they are good parents. We are good parents, why is this happening to us? Every nightmare I had about having a baby was now my reality. What did we do to disserve this? We went to the Chapel that was on site at the hospital. We prayed and cried, and prayed and cried some more. We asked God for whatever His will was for the situation to be done. This was something we had no control over. We prepared ourselves for the worst.

Doctors and Diagnosis

My mother in law Google searched clubfoot. She found Abby’s story. Abby has a condition called Arthrogryposis Multiplex Congenita (AMC). She was so much like Grace, but we still couldn’t be 100% sure that Grace had Arthrogryposis. We followed up with our pediatrician Dr. Weinberg, as most newborns do. Dr. Weinberg has been practicing for over 35 years and has not ever had one Arthrogryposis patient. We quickly learned that doctors are humans too, although incredibly smart, they do not have all the answers.

We started to see Dr. Wild at St. Joseph Hospital in Ann Arbor, Mi so that he could correct her clubfoot in her right lower extremity. Grace was serial casted using Ponseti method by Dr. Wild for the 1^st six weeks; he then did a tenotomy (the cutting of a tendon). This and related procedures are also called tendon release, tendon lengthening, and heel-cord release (for tenotomy of the Achilles tendon).

Dr. Wild’s 6 week attempt to serial cast was unsuccessful. He serial casted for several more weeks followed by one more tenotomy. With over 40 years of experience, Dr. Wild was stunned. He said when he did the tenotomy Grace’s tendon seemed to stiffen up instead of getting loose. He then referred us to the University of Michigan in Ann Arbor.

We couldn’t go to U of M at that time because of our insurance. The only other local option was Detroit Children’s Hospital. We set out to see a geneticist there. Finally, after waiting weeks to get in we were there to see a geneticist. It seemed as though we would find the answers we were looking for. The doctor walked in took one look at her as said “Well, you already know she has Arthrogryposis”. My husband and I both looked at each other and said, “Actually, no we don’t!” The doctor then told us that Arthrogryposis would never get any better (not necessarily true). He then asked us what we wanted from him. Did we want physical therapy services from Children’s hospital? We kindly answered no, as we already had physical therapy services closer to our home. We left feeling a little more hopeless than we had when we walked in. Although, on the bright side we had one answer that we didn’t when we walked in, we had confirmation that Grace did in fact have Arthrogryposis (AMC).

As soon as issues with our insurance cleared up, we acted fast to get to the University and search for answers. We saw the Chief of Pediatric Orthopedics, Frances Farley. She serial casted for six weeks then did yet another tenotomy. The results were the same. She decided that the next step would be to put Gracie in a Dennis Browne bar. The Dennis Browne bar is used to maintain the correction achieved during casting.

We were referred to see Dr. Virginia Nelson at the University of Michigan who specialized in Arthrogryposis. She once ran an Arthrogryposis clinic, and had incredible experience. She again confirmed our suspicion of AMC. Grace is affected with AMC in her upper extremities with her right side being more severe, and her right lower extremity. Through testing that Dr. Nelson suggested, we were able to find out that Grace has limited jaw opening, common with AMC. The form of treatment is practicing getting Grace to open her mouth as much as possible, often throughout the day. We still see Dr. Nelson every 6 months to 1 year. Having a diagnosis of AMC doesn’t answer everything. There is no known cause for AMC. It effects 1 in 3000 births, and is non progressive; it can get better with physical and occupational therapy.

Our pediatrician calls Grace a “medical marvel”. Along with having Arthrogryposis, she also has spherocytosis. Spherocytosis is caused by a defective gene. The defect results in an abnormal red blood cell membrane. The affected cells have a smaller surface area for their volume than normal red blood cells, and can break open easily. Having a family history of spherocytosis increases the risk for this disorder. I have this disorder and have had my spleen removed. This outcome is usually good with treatment. After the spleen is removed, the life span of the red blood cell returns to normal.

When Grace was about 6 months old we saw an ophthalmologist. Grace’s eyes looked as if she was constantly crying. The ophthalmologist said she believed that Grace had blocked tear ducts. We scheduled another surgery. Weeks later when Grace got into St. Joe’s to have surgery, Dr. Tisch told us Grace’s tear ducts were shaped abnormally and that it may get better on its own, or we could try again when she was about a year old. We haven’t yet found it necessary to follow through with this procedure.

The latest and greatest from Gracie's speech therapist! 6/4/11

Grace was born with contractures of her arms and a club foot. She exhibits a motor speech disorder that makes it difficult for her clearly articulate sounds. When the content is known, her speech can be understood less than 50% of the time and only about 20% of the time when the content is not known. She has limited range of motion in her jaw and tongue and cannot make accurately postures for many speech sounds. She is beginning to produce bilabial and back sounds when cued. She works hard to try to imitate sounds upon request but requires consistent prompting and cues from an adult to maintain her progress. To interrupt her instruction could jeopardize the gains that Grace has made. Recommended summer speech & language services 2 hours/week.

Finding Hope

As soon as we confirmed Grace had AMC, we joined the Arthrogryposis support group. Amcsupport.org. Our new found support group was having an annual convention in Ohio, only a few hours away from us. We decided we should go, and thankfully we did. I remember walking in to the convention to what I like to call “100’s of little Gracie’s”! There were so many kids and adults who looked just like her! It was truly a moment I’ll never forget. It was a moment when I knew that we were not alone. Little did we know we would meet lifelong friends and become part of a new family. We met a Doctor at that convention by the name of Dr. Van Bosse. He treats several of the AMC’ers. We asked him if he could look at Grace. He did, immediately he told us Grace should not be in the Dennis Browne Bar that she was in, and that he was confident that he could help us.

Dr. Van Bosse was working out of the Shriner’s Hospital for Children in Philadelphia. We knew it would be a challenge, but we were willing to go to any length to get our daughter the care she needed. We started weekly visits to Philly. The first time we went we started with a tenotomy and then started the serial casting process. We went to Philly every week for 6 weeks, followed by going every3 weeks. Grace was then fitted for an ankle foot orthotic (AFO), which she wears during the day and a special one she wears at night. As Grace grows (which is every day!) she has to be fitted for new AFO’s, as she out grows them. We still visit Philly often. Grace’s foot slightly regressed and she is currently in cast number 41. We go back to Philly at the end of May to get her new AFO’s, just in time for summer!

The annual AMC convention for 2009 was held in Philadelphia. We met more friends and learned more than we had ever imagined. We also got to meet Dr. Judith Hall, who wrote the text book on Arthrogryposis. What an honor and a privilege it was to sit and talk with someone who is so educated on AMC. We thank God for our support group, without them we are not sure where we’d be, or if we would have much hope for our daughter Grace. We are looking forward to the 2010 convention in Orlando, Florida. Every year brings new experiences and opportunities that wouldn’t be possible without AMCSUPPORT.ORG and the wonderful people who brought this support group to life.

Grace has received physical therapy (PT) and occupational therapy (OT) since her first days in the NICU. January 2010 she started a toddler group twice a week which focuses on PT and OT and also speech therapy. Since Grace has limited jaw opening it has delayed her speech. We have started teaching Grace to do baby sign language. Cognitively Grace is above average for her age. As far as her speech, she is speaking at a 10 month old level. We have no doubts that Grace will speak, eventually. We will give her all of the proper care that she needs to help her progress.

We have no idea why Grace is the way she is, my best guess is that God made her that way! She’s a bright light in a dark room. She’s funny, witty, sweet, smart, and beautiful. We couldn’t imagine our lives without her. Today we know we wouldn’t change a thing about her. She really is our amazing Grace.