March 2023 AMCer

The Holekamp’s found out that Asher would be born with clubfeet around the middle of their pregnancy. Their older daughter had been on the cusp of having growth restriction so their second pregnancy was being monitored more closely. Throughout the last half of the pregnancy, there was a lot of stress and testing but no other issues detected. Asher was born August 15^th, 2021, his lower body immovable due to hip, knee and feet flexion contractures – lower extremity Arthrogryposis.

His femur fractured during delivery (which went undetected for 4 weeks). The local hospital had no pediatrician on call at the time and no AMC specialists. When Asher was just four days old The Holekamp’s drove three hours to see the closest Pediatric Orthopedic Surgeon. This ended up being one of the most traumatic days for Asher and the family. Asher’s mom cried the whole drive home. She was expecting imaging and a full workup, but instead Asher was assessed for about five minutes and then casts were put on both of his legs while he screamed in pain. It was heartbreaking to witness. This initial treatment continued for weeks while Asher’s parents begged for answers as to why the treatment was so traumatic and googled endlessly trying to figure it out. At four weeks old it was confirmed that Asher had endured a fractured leg at birth. His leg healed but their trust was broken. They continued to treat his clubfeet with no plan for further treatment to his legs. Asher was put into a boots & bar device at 3 months old and within a couple weeks developed severe rocker bottom. Still no answers in sight (and no movement in his lower body) the Holekamp’s sought a second opinion. By chance, the top club foot doctor in Canada was out of retirement so Mom emailed him photos of Asher’s feet and legs. He asked the family to come see him in Vancouver. This visit changed the course of Asher’s life. 

At four months old, Asher’s clubfeet were recorrected. Custom AFO’s were made but he still had severe hip and knee contractures and no movement in his legs. The new orthopedic doctor immediately confirmed Asher had Arthrogryposis and urged his parents to search for top doctors who were skilled in treating AMC. The Holekamp’s are forever grateful for his humility and honesty in this situation, as it gave them the reassurance necessary to take Asher’s medical care into their own hands.

Asher’s mom found community in the Arthrogryposis Moms group on Facebook and instantly began researching for specialists. From that research, they booked a Zoom consult with Dr. Feldman and Fran (head of PT/OT) from the Paley Institute. Up to that point, the family and Asher’s medical team had been splinting his knees, stretching, and working on trying to elicit some movement from his lower body. A few days before the consult with Dr. Feldman they received genetic testing results that revealed Asher had a TRPV4 gene mutation, a form of distal spinal muscular atrophy. It was explained that this is the underlying cause for his Arthrogryposis. This diagnosis is one in a million. Dr. Feldman assured the family he had treated a five year old with the exact same diagnosis and that the child was now up and walking with support. Dr. Feldman and Fran worked to guide The Holekamp’s local team in Canada from afar on how to straighten Asher’s knees through serial casting and stretching. It was a success!

While Asher’s knees could now straighten, his muscles still were not activating. The Holekamps flew to Greenville, South Carolina to meet with Dr. Hyer at Shriners Hospital in Greenville and while there they spent a week doing therapy. Shortly after, they returned to the U.S. once again to attend the AMC conference in Florida and met with Dr. Feldman and Fran in person. Dr. Feldman and Fran were both overjoyed at the progress that had been made using their techniques to serial cast Asher’s knees into extension. Their protocol was followed precisely and it had paid off!

Dr. Feldman urged Asher’s parents to get him an MRI. Since the neuromuscular aspect of his condition had also been confirmed, Dr. Feldman had an urgent referral sent to the neurology clinic at the Holekamp’s local Children’s hospital. The MRI results were returned to Dr. Feldman who confirmed with a neurosurgeon at Paley that Asher had a tethered spinal cord. The family met with Dr. Asadi at The Paley Institute via Zoom just days after Asher’s first birthday, in August 2022. Dr. Asadi explained the tethered cord and walked them through available options. The Holekamp’s then obtained three other opinions before they ever heard back from their local hospital so, by then they had already decided surgery was the best option. After finding out that surgery needed could not be performed in Canada, they made the decision to go to The Paley Institute in West Palm Beach, Florida to have the surgery with Dr. Asadi in November 2022.

Surgery went well and the signal to Asher’s legs improved. Asher’s feet had relapsed so while at Paley serial casting was performed on his feet and knees, by Dr. Dobbs. Asher spent a month doing rehab while continuing to work on muscle contractures, mobility, and muscle activation. The Holekamp’s were introduced to spinal stimulation (which they have been using ever since) and it has had a large impact on Asher’s daily rehab at home. At the beginning of their time at Paley, Asher was unable to sit up unsupported and by the end of that month, he was able to crawl and move his legs with braces in a walker!

Dr. Asadi highlighted the importance of the next 6-12 months, for Asher to regain some nerve function to his already weak and atrophied muscles. Asher (like most children with AMC) has about 10-20% of the average muscle tissue in most of his lower body; but, prior to surgery wasn’t able to access any of it. 

Now, the Holekamp’s are concentrating all of their efforts on rehab for Asher. Many doctors told them Asher would never walk but, a few (including all the physicians at Paley) have given them the hope and courage to keep fighting. They are currently in Los Angeles, California for Asher to attend a 3-week intensive therapy program at The NAPA center, using Dynamic Movement Intervention approach. DMI “is used to treat children with motor delay by improving automatic postural responses and promoting progress towards developmental milestones. The goal of DMI is to provoke a specified active motor response from the child in response to defined dynamic exercises prescribed by the therapist. This comprehensive intervention incorporates current research on neurorehabilitation, technologies, and methodologies. DMI stimulates neuroplasticity to facilitate new neuronal connections and development of motor milestones.” (Dmitherapy.com) 

Asher will be in therapy 5 days a week, 2 hours a day, for all three weeks with the goal of activating some of the muscles in his legs, to work on standing.

Asher’s lower extremity contractures are still managed and monitored on a daily basis. He wears knee immobilizers with ADMs at night and during his naps. His feet are stretched 3x a day and he has custom AFOs and KAFOs he uses daily in therapy. He spends an hour each day in a standing frame and is more recently able to use a gait trainer with support of a therapist to take a couple steps. Most of Asher’s medical care is still overseen by the physicians at The Paley Institute and the Holekamp’s plan to continue his care and treatment at that facility as they have found no one with the same level of experience to treat the complexities of Asher’s case near their home in Canada and at this point, trust no one else to care for him. 

Asher is a resilient and determined little boy. He wants to walk and his parents are doing everything in their power to give him that chance. Early intervention is key, especially in children with AMC. The Holekamps feel that an improper diagnosis and lack of awareness lost them some time and opportunities for treatment during the first four months of Asher’s life but, they are making up for that now. They want Asher to walk into the offices of the doctors who said he would never walk and prove them wrong!

Support from Helping AMC families is helping Asher access the intensive therapy program at NAPA. The Holekamp’s are grateful for organizations like Helping AMC Families which allow them the ability to take these steps for Asher and support his journey forward. Arthrogryposis will affect him for the rest of his life, but they know everything they do for him now will impact what he is capable of doing in the future. 

 

Helping AMC Families Incorporated is assisting the Holekamp family in their journey with a $5000 award, which is being used towards the intensive therapy program at NAPA in California.