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Our 3 year old son Robert C Gomez was born with a RARE congenital disorder that includes physical abnormalities; at birth his right leg had and continues to have a length discrepancy. His right leg is 1-1.5 cm longer than his left; two of his toes were infused making it look like a big mass that even had an extra pinky toe. By two months of age, we started noticing that his leg and thigh looked a little thicker in girth than his left. By 4 months of age, his right buttocks started becoming fuller and bulky than the left. By this point we had met with a slew of specialist and they all agreed to follow Boston Children’s Hospital protocol (as they are among the leading hospitals for rare diseases). The protocol meant that Robbie would undergo an initial MRI to determine any other abnormalities and establish a baseline. Subsequently he undergoes quarterly ultrasound and blood work to monitor any organ overgrowth and any signs of malignant tumors. Specialist suspected that the gene mutation was PIK3CA. This gene is known for overgrowth syndromes. The only way to confirm was to take some of the tissue in the affected area and have generic testing. Thus, after consulting with our hospital, Shriners, and Boston Children’s Hospital, two possible procedures were recommended to obtain the tissue needed, however one option carried a high probability in aggravating the overgrowth, making it grow faster and even larger. The second option was a Right Syme Amputation; the removal of his right foot only keeping the heel pad for weight barring. Three months before his 2nd birthday, he underwent the amputation surgery at Shriners Children’s Hospital in Sacramento, CA.
Genetic testing was conducted using tissue from his amputated foot the results of which confirmed the PIK3CA Gene Mutation. This gene mutation has no cure. There is no way of slowing it down or stopping it. In additionally this type of gene mutation is known for cancerous tumors which only adds to the frustration of this mysterious condition. Thus, the quarterly ultrasounds and lab work need to continue until Robbie turns 8.
Robbie recovered like a champ. He received his first prosthesis; everything seemed peachy keen. Until it wasn’t. Our biggest fear was becoming reality. His stump, (the heel) had begun to grow. His first surgery was December 22, 2017, he received his 1st prosthetic weeks after his 2nd birthday in March 2018. From that date until the present time, he has gone through 6 prosthesis. The Prosthetic and Orthotics Team can’t keep up with the rate of growth and his need for a new prosthesis. Thus far, Shriners Children’s Hospital has provided 6 Prosthesis with no end in sight. (On average it is typical child amputee to go through 2 prosthesis a year). Thus, bringing us to have to make another decision a parent should never have to make. The decision to have our son undergo another amputation was not something we wanted, but for the best quality of life, it’s the best decision for him. This second amputation will be below the knee and is scheduled for July 24, 2019.
Robbie is a very happy and playful little boy; he runs faster than Speedy Gonzalez, he climbs the monkey bars, he flies up ladders at the playground, and rock climbs like no one’s watching. Having shared part of his story, you can’t deny his Superhero status. His bravery, and the unique way he views the world. As parents all we can do is support him and help him spread his wings. However, the way he will literally walk through life will have so many disadvantages for a kid his age. Robbie already experiences the unfairness and lack of adaptive equipment in public and private parks. I can’t imagine the experiences he will encounter when he is confined to a wheelchair the first 3-4 months after his second amputation. When the time comes Robbie will need to learn how to walk again with a different type of prosthesis. It’s pivotal for him to have the ability and capacity to re-engage in physical activities with the same intensity as before. We are turning to this platform to reach friends and family and ask for assistance to help provide Robbie with the appropriate water resistant, intensive use prosthesis that will match his active lifestyle and grant him a full range of movement. These types of children’s prosthesis are estimated at $5,000 to $15,000 minimum. Without them, Robbie won't be able to do enjoy his new love of swimming, showering while standing, walking barefoot, and allow him to be his typical hyperactive little 3-year-old running around and getting into trouble. Robbie’s immediate new home setup for care post-op includes shower chair and safety bars estimated to be $300. Recreational items like a Rifton Tricycle will help Robbie ride comfortably and would accommodate the use of his prosthesis. This tricycle is approximately $1,500. Let’s not forget comfort and car safety, a soft touch booster seat is will help him be comfortable during the long rides to Shriners Hospital in Sacramento. Due to the overgrowth, this right butt cheek is bigger, thus causing an uneven siting posture and discomfort with the addition need and cost for customized/altered clothing to accommodate his unique body shape. The soft touch car seat is approximately $650. Travel and lodge are one of our biggest challenges that impede us to travel to and from Sacramento, be seen by specialist at Boston Children’s Hospital, the leading hospital for RARE conditions like Robbie’s, and by the Gigantism specialists at UCLA. Being seeing by the leading experts would help in any medical interventions needed to improve his quality of life. Bringing this part of Robbie's journey to an approximate cost of $25,000.
We thank you for any donation. If a donation is not in your means, please help raise awareness of our son's rare condition by sharing the Go Fund Me Page.
We also invite you to Take a Walk on The RARE side and follow our blog at www.RobbiesFootnotes.wixsite.com/RobbiesFootnotes There you will read more detail information about his condition, what’s being done, the challenges we are facing, and the impact on Robbie and our family.
Genetic testing was conducted using tissue from his amputated foot the results of which confirmed the PIK3CA Gene Mutation. This gene mutation has no cure. There is no way of slowing it down or stopping it. In additionally this type of gene mutation is known for cancerous tumors which only adds to the frustration of this mysterious condition. Thus, the quarterly ultrasounds and lab work need to continue until Robbie turns 8.
Robbie recovered like a champ. He received his first prosthesis; everything seemed peachy keen. Until it wasn’t. Our biggest fear was becoming reality. His stump, (the heel) had begun to grow. His first surgery was December 22, 2017, he received his 1st prosthetic weeks after his 2nd birthday in March 2018. From that date until the present time, he has gone through 6 prosthesis. The Prosthetic and Orthotics Team can’t keep up with the rate of growth and his need for a new prosthesis. Thus far, Shriners Children’s Hospital has provided 6 Prosthesis with no end in sight. (On average it is typical child amputee to go through 2 prosthesis a year). Thus, bringing us to have to make another decision a parent should never have to make. The decision to have our son undergo another amputation was not something we wanted, but for the best quality of life, it’s the best decision for him. This second amputation will be below the knee and is scheduled for July 24, 2019.
Robbie is a very happy and playful little boy; he runs faster than Speedy Gonzalez, he climbs the monkey bars, he flies up ladders at the playground, and rock climbs like no one’s watching. Having shared part of his story, you can’t deny his Superhero status. His bravery, and the unique way he views the world. As parents all we can do is support him and help him spread his wings. However, the way he will literally walk through life will have so many disadvantages for a kid his age. Robbie already experiences the unfairness and lack of adaptive equipment in public and private parks. I can’t imagine the experiences he will encounter when he is confined to a wheelchair the first 3-4 months after his second amputation. When the time comes Robbie will need to learn how to walk again with a different type of prosthesis. It’s pivotal for him to have the ability and capacity to re-engage in physical activities with the same intensity as before. We are turning to this platform to reach friends and family and ask for assistance to help provide Robbie with the appropriate water resistant, intensive use prosthesis that will match his active lifestyle and grant him a full range of movement. These types of children’s prosthesis are estimated at $5,000 to $15,000 minimum. Without them, Robbie won't be able to do enjoy his new love of swimming, showering while standing, walking barefoot, and allow him to be his typical hyperactive little 3-year-old running around and getting into trouble. Robbie’s immediate new home setup for care post-op includes shower chair and safety bars estimated to be $300. Recreational items like a Rifton Tricycle will help Robbie ride comfortably and would accommodate the use of his prosthesis. This tricycle is approximately $1,500. Let’s not forget comfort and car safety, a soft touch booster seat is will help him be comfortable during the long rides to Shriners Hospital in Sacramento. Due to the overgrowth, this right butt cheek is bigger, thus causing an uneven siting posture and discomfort with the addition need and cost for customized/altered clothing to accommodate his unique body shape. The soft touch car seat is approximately $650. Travel and lodge are one of our biggest challenges that impede us to travel to and from Sacramento, be seen by specialist at Boston Children’s Hospital, the leading hospital for RARE conditions like Robbie’s, and by the Gigantism specialists at UCLA. Being seeing by the leading experts would help in any medical interventions needed to improve his quality of life. Bringing this part of Robbie's journey to an approximate cost of $25,000.
We thank you for any donation. If a donation is not in your means, please help raise awareness of our son's rare condition by sharing the Go Fund Me Page.
We also invite you to Take a Walk on The RARE side and follow our blog at www.RobbiesFootnotes.wixsite.com/RobbiesFootnotes There you will read more detail information about his condition, what’s being done, the challenges we are facing, and the impact on Robbie and our family.