July 2023 AMCer

Victor was born on international women’s day March 8 2019 in Sweden. The doctors were not aware of Victors condition and unfortunately they broke his right femur at delivery. Victor was casted a few days after his birth and his parents expected that to be his only cast. Now, they cannot even remember or count the number of castings he has endured.

Victor was diagnosed with AMC at four months old. His AMC is caused by a gene mutation in chromosome 12. He has a mutation called TRPV4 which also causes his primary condition CDSMA (congenital distal spinal muscular atrophy). Victor is affected by AMC in his hip, knees and feet. He is also affected in his shoulders, trunk and arms by his CDSMA. He was casted for clubfeet after he his spica cast from the broken femur was removed. He then had a tenotomy on both feet (where they clip the achilles tendon) and his feet looked great.

Victor received his first wheelchair when he was 11 months old but prior to receiving a wheelchair his dad made him a Bumbo chair with wheels so he could get around! Victor is an excellent driver and he loves the speed. When he was a year old, his family took a long vacation to Florida. During their vacation they decided to book a consultation at the Paley Institute with Dr. Feldman. Victor’s parents still remember that day well because Dr. Feldman was the first physician to tell them all the things Victor would be able to do and before meeting Dr. Feldman, they had only been told what Victor would NOT be able to do. During their visit they also had an evaluation with PT and OT, where they met Fran Guardo and Nelda Posada. Both wonderful people who opened their eyes to what their child could do and what physical and occupational therapy should look like for an AMCer.

After the evaluation, the family decided Victor would have PT and OT sessions before returning home to Sweden. Before visiting the U.S. Victor was not able to sit. By the time they left to head home, Victor was able to sit unassisted. Back in Sweden he had not been offered any therapy comproble to what he was able to receive at the Paley Institute. 

Back in Sweden, Victor’s parents did a lot of therapy on their own. They worked hard to implement everything they learned during their time at Paley. They also made a decision as a family to continue the treatment plan proposed by Dr. Feldman, as they decided his plan was much better for Victor’s needs than the one offered in their home country. Victor had a second round of casting for his clubbed feet due to relapse and another tenotomy on both feet. 

Dr. Feldman had also mentioned the possibility that Victor could have a tethered cord, which meant he needed an MRI to check. The doctors in Sweden were hesitant to give Victor an MRI because they didn’t believe he had a tethered cord but after his parent’s insistence, they gave did the MRI. The test came back showing a tethered cord; however, at the consultation with the neurologist, they did not want to act on it because they said Victor didn’t have any symptoms, in their opinion. Victor’s parents disagreed because they saw signs such as constipation, excess tightness in his feet etc.  so they sent the MRI results to Dr. Feldman who confirmed it was clearly a tethered cord and needed to be resolved. 

Victor’s parents continued discussions with the doctors in Sweden and obtained a second MRI of Victors brain which showed a mild case of Chiari. With this information they went back to neurosurgery and requested intervention. After some more runaround they finally said yes and Victor had his tethered cord released on November 8^th 2021. Following this surgery his constipation resolved and he was able to discontinue supplements for it. His clubbed feet also stopped being extraordinarily tight. 

In March of 2022 Victor and his family made the huge move from Sweden to Florida so Victor could receive all the care he needs to go as far in life as possible. They met with Dr. Feldman in April 2022 and made plans to work on placing Victors right hip back in its socket and then surgery on both knees to follow. Since Victor doesn’t have the necessary muscles for walking their goal was to help him so he would be able to stand.

On October ^rd 2022 Victor had hip surgery. He was put in a spica cast for three weeks and for Victor, this was the worst time. On October 25^th Dr. Feldman performed surgery on his left knee and then Victor worked through physical therapy. On December 20^th it was time for his right knee, after which physical therapy continued. Victor was also casted by Dr. Dobbs in April before his hardware removal on April 25^th 2023. 

Very early on, Victor’s parents noticed he was a really hard worker at Paley therapy. In their opinion, Victor’s motivation is a direct result of the therapists and how exceptionally amazing they are. Victor still loves therapy even today! Feldman changed the goal from standing to walking and we continued to work, having therapy as often as possible and then continuing at home with the homework given by the therapists. 

In January 2023, Victor started walking with KAFOs and a crocodile walker. He quickly changed to a Nimbo walker and today is trying hard to walk with crutches. 

Victor’s parents are forever grateful to Dr. Feldman and his team for giving Victor the tools for independence and so thankful to all the amazing therapists at Paley who taught Victor how to manage his new independence and way of moving.

Victor has come such a long way and needs even more physical therapy to maximize his outcome. Victor’s parents never thought he would be able to move around the house with just a walker and maybe even just crutches. Victor loves his new life of mobility because it gives him more chances to be like his older brother and play on more equal terms. 

Victors goal in life is to be just like his best friend, his biggest influence and hero… his amazing big brother!

Helping AMC Families Incorporated is happy to assist Victor and his family with costs related to extensive physical/occupational therapy needs.