May 2023 AMCer

If you would like to help an AMCer like this one, click here to donate to Helping AMC Families Incorporated

Nicolas Pena

My age: 6

My favorite things: going to the park, going to my friend’s house, cooking with Dad, hot wheels and monster trucks

Number of siblings: none

Number of surgeries to date: two

Assistance provided: support with expenses related to necessary medical travel

Nicolas (Nico) was born with Arthrogryposis Multiplex Congenita (AMC), a condition that caused many of his joints to be stiff or stuck in position and crooked at birth. Arthrogryposis is diagnosed when a newborn lacks range of motion in one or more joints, in more than one limb. Nicolas was born in a tight little ball and could not stretch out. Arthrogryposis affects Nicholas in his elbows, wrists, fingers, knees, hips, neck, shoulders, and scapula. He also has complex clubfoot and severe contractures in his fingers.

This diagnosis came as a surprise to Nicolas’ parents, since it wasn’t seen in the ultrasounds. After hearing the diagnosis they decided as a family that Mom would stop working in order to focus on the care of Nicolas. They learned that due to AMC being so rare, adequate medical care would require them to travel far away and would therefore be expensive but nonetheless their goal was for Nicolas to be able to walk and they knew they would do whatever they could to help make that happen for him.

Nicolas started physical and occupational therapy at just 10 days old. His parents feel lucky to have an amazing therapy team right in their city. The journey to correct Nicolas’ complex clubfoot began in San Antonio where he was casted when he was 3 weeks old. After doing more research on Arthrogryposis, Nico’s parents decided to continue serial casting at Scottish Rite in Dallas where they were told the doctors had more AMC experience. At the same time, they also placed Nicolas on the wait list to see Dr. Harold van Bosse, a world renowned AMC lowers specialist located at Shriners Hospital for Children in Philadelphia, Pennsylvania. Dr. van Bosse’s waiting list was 14 months long so, in the meantime, the family traveled from San Antonio to Dallas every Thursday for seven weeks to complete serial casting on Nico’s feet. After those 7 weeks the doctor they were working with told them they had to stop treatment because he was not able to feel Nico’s Achilles tendon and therefore would not perform the surgery (tenotomy) they had been working towards to release the heel cords/achilles tendons.

Nico’s parents realized they would need to look for care outside of Texas in order to continue his treatment and progress. After asking mom’s of other AMCers, they made a decision to consult with Dr. Dobbs at St. Louis Children’s Hospital. Dr. Dobbs was able to continue with the serial casting treatment and performed seven more rounds. Once complete, he did perform a tenotomy on both heel cords and put Nico into a device called boots & bar to maintain the correction. Unfortunately, like many AMCers, Nico’s feet were very stubborn and regressed. The family traveled for three more rounds of casting to combat the regression but still Nico’s feet could not be fully corrected. His parents felt hopeless and decided to stop treatment and focus on therapy for a while.

During that time, Nicolas also had genetic testing and it was discovered that he had a gene mutation causing his Arthrogryposis. His AMC type was diagnosed as Distal 5. This means the muscles in his eyes are also affected. Because of this, Nico is unable to look up or down and only a little bit to the sides. He must also have his lungs checked annually.

After a long wait, the phone call from Dr. van Bosse’s office at the Shriners hospital in Philadelphia came in. The office called in December to make an appointment for February and Nicolas’s mom has always considered this her best Christmas present. Nicolas was 18 months old and Dr. van Bosse was the first doctor to state that Nicolas WAS going to walk! Once the family made it to Philly, Nicolas had five more rounds of casting on his feet and just like that, Nicolas’ feet were in perfect shape for the first time in his life! The family then shifted focus to intensive therapy with swimming lessons and at 20 months old, Nico took his first steps with the help of a walker.

Nico has been blowing away his family with his accomplishments ever since and he is doing almost everything any other child his age would be doing. The family had continued Nico’s care with Dr. van Bosse, traveling every 6 months to Philly until Dr. van Bosse left the Shriners facility. There was a time of uncertainty, when they didn’t know if they would see him again or who they would see and Nico’s feet were starting to regress once more. Regression occurs in AMCers every time they have a growth spurt. This makes regular stretching and bracing a critical component of AMC care but even still, contractures tend to regress over time and require repeat treatments. 

During the time while Dr. van Bosse was not practicing at a facility, Nico’s family saw Dr. Hyer at Shriners Hospital for Children in Greenville, South Carolina. She created a treatment plan for Nicolas’ feet but mom and dad wanted a second opinion so they went to consult with Dr. Dobbs and Dr. Feldman in West Palm Beach, Florida. At The Paley Institute, Dr. Dobbs suggested a very different treatment plan and Dr. Feldman was amazing and checked over Nico’s knees. It was bittersweet because after doing a full assessment he said, I would not do any surgery on Nico. The contractures on his knees and hips are so mild that there is no surgery where the benefits will outweigh the risks. They were happy to hear a leg surgery would not be helpful and that they should just continue with lots of therapy. 

With very different approaches and treatment plans for Nico’s feet on the table, one from Dr. Hyer and another from Dr. Dobbs, Nico’s parents decided to wait a bit longer.

After waiting for some time, they heard the news that Dr. van Bosse had taken a position at a new facility, Cardinal Glennon Children’s Hospital in St. Louis, Missouri. In January 2023 they went to meet back up with him and see what he thought about where things were at. He said Nicolas would need additional casting and another surgery so the family decided to travel to St. Louis in May 2023 (after Nico graduates from Kindergarten). They will be staying in St. Louis for 25 days. Nico will have five sets of casts, a surgery, and then casted for 4-6 weeks after surgery.

In the meantime, Nicolas continues physical and occupational therapy four days a week. They work on combating his muscle weakness to make him a bit stronger. They focus on stretching and are seeing some improvement in his contractures. There is still so much work to do, but they are taking it day by day.

Nico’s mom says that he is blessed to have been given the perfect personality to deal with his condition as he is such a happy and sweet boy. He is very smart and determined. He loves school, being with his friends, and riding in his scooter. He is bilingual and can read in English and Spanish. They feel incredibly lucky to be his parents. 

Thank you so much for reading and bless you all for taking the time to support Nicolas’s journey. Paying for medical expenses plus traveling costs is a lot and Nico’s family feels very blessed to have bee awarded financial assistance from Helping AMC Families to make it all just a little bit easier.

Helping AMC Families Incorporated is assisting Nicolas and his family with $5000 towards ground transportation, lodging, and medical expenses to alleviate the financial strain of necessary medical travels across the county.

If you would like to help an AMCer like Nicolas,
click here to donate to Helping AMC Families Incorporated

Nana : Would you rather be rich or kind?

Ana : Kind

Nana : Why?

Ana : Because kind people do beautiful things.

– AMC Princess Ana & Nana