Download Our Journey with Proteus Syndrome: The Condition of "Elephant Man"

www.ComplexChild.com
Our Journey with Proteus Syndrome:
The Condition of "Elephant Man"
by Jessica Pearce
How exciting to be expecting a healthy baby boy at my five month ultrasound! After
slipping and falling on ice, another ultrasound was performed at 38 weeks and revealed
just the opposite. A cleft lip, heart problems, and enlarged ventricles in his brain. I was
seen by a perinatologoist immediately and it was confirmed that Cohen had a genetic
disorder, though his diagnosis wouldn’t be known until after he was delivered and tests
could be done.
At 40 weeks Cohen was born via emergency C-section with NO cleft lip! Cohen was in
the NICU after delivery for observation where he had several tests done. After seeing
Cohen a couple things stood out: his left foot would shake, and he had a small bump on
the bottom of his left foot. Doctors didn’t think anything of the bump and said his foot
twitching was related to enlarged ventricles in his brain. But was it?
What are these Growths?
While seeing all of Cohen’s specialists, I would always ask, "what is this bump on his
foot?” As the bump on Cohen’s foot continued to grow and get bigger, his toes also got
bigger. Cohen not only had a "bump" on his left foot, he had bone overgrowth called
fibrous dysplasia on the left side of his skull, and lipomas (fatty tissue) on his left side of
his stomach. Last but not least, Cohen had a large growth on his left tonsil making the
Copyright 2012 by Complex Child E-Magazine. All Rights Reserved. This document may be distributed
for educational use only with proper citation.
2
ENT doctor think he could have lymphoma. After having his tonsils and adenoids
removed the biopsy came back negative. Thankfully it was only a benign tissue
overgrowth.
After running every genetic test possible, everything still came back normal. Finally, the
third genetic doctor we saw said he could have Proteus syndrome, an overgrowth
syndrome of different body parts, but there was no way to test for it. It was a long shot,
but the geneticist could send his case to the National Institutes of Health (NIH) in
Bethesda, Maryland to be reviewed. Fortunately, Cohen was accepted into the NIH
program. We were ecstatic to finally be close to a diagnosis, but that answer came with a
lot of fear and more questions.
NIH Here We Come: A Workup for Proteus Syndrome
After a five-hour drive from Pennsylvania to Maryland in December 2011, our journey
for answers had just began. Day 1 consisted of family history, his physical and lots of
paperwork. Day 2 consisted of bloodwork that was a nightmare since Cohen doesn’t give
blood easily. Next, was the ophthalmology consultation where we learned that Cohen’s
right eye was affected and the tissue of his eye was also growing. Finally we met with
the genetic counselor at the end of the day.
On day 3, Cohen met with physical therapy and occupational therapy to see what his
abilities were, and what we can do at home to improve. After this consultation, Cohen
had an ultrasound on his stomach and testicles. We learned that Cohen’s left kidney was
slightly larger than his right. It is very common in Proteus for organs to be asymmetrical.
They look at the testicles in boys because it is also common for them to be asymmetrical.
They are keeping an eye on this every 6-12 months or as needed if problems occur. Next
up we saw ENT to check the bone growth on his left side of his head. He has a very
narrow ear canal. This will eventually lead to the bone closing his ear canal and
impacting the wax and fluid, causing infection and hearing loss, and someday requiring
surgery.
On day 4, we reported to the inpatient unit at the NIH where GI and neurology came to
us. This was nice since the day before we ran around like maniacs! Dermatology also
came to us and they checked Cohen over from head to toe. He had a skin biopsy that
later confirmed the presence of the AKT1 gene. We also met with the genetics team
during the dermatology consult. After the dermatology consult I finally had a chance to
chat with the geneticist, a wonderful and kind man, who was the first to answer all of my
questions, from the first days of Cohen’s life to present. After an extensive workup, lots
of paperwork, lots of questions, and lots of photos, the week FINALLY came to an end.
3
What is Proteus Syndrome?
Ultimately, after putting together Cohen’s clinical presentation and the presence of the
AKT1 gene, Cohen was diagnosed with Proteus Syndrome. According to the Proteus
Syndrome Foundation,
Proteus syndrome is a rare overgrowth condition. The overgrowth in Proteus
syndrome can cause differences in the appearance and growth rate of various
body parts. This overgrowth is also typically asymmetric, that is, it does not
affect corresponding body parts similarly. The word “Proteus” comes from the
name of the ancient Greek God of change.1
In 2011, researchers at the NIH determined that Proteus syndrome is caused by a specific
mutation in a gene called AKT1 that occurs in only some of their cells. According to the
Proteus Syndrome Foundation,
People with Proteus syndrome have an altered AKT1 gene in some of their cells.
This altered gene makes an abnormal protein....This means that the AKT1 gene
has a “spelling error” that causes an abnormally active protein to be made in the
body. This active protein is thought to increase rates of cell growth and may
prevent cells from dying off when they naturally would. Researchers think that
this helps to explain why patients with Proteus syndrome experience overgrowth
and are at an increased risk to develop tumors.2
Diagnosis requires three characteristics or features, according to the Proteus Syndrome
Foundation:
1. Mosaic distribution: this means that the areas of overgrowth are patchy and that
only some body parts show signs of overgrowth while others are unaffected
2. Sporadic occurrence: this means that no one else in the affected person’s family
has similar features of overgrowth
3. Progressive course: this means that the overgrowth has noticeably altered the
appearance of the affected body parts over time or that new areas of overgrowth
have appeared over time
Proteus syndrome mostly affects the bones and skin, leading to orthopedic and skin
problems. Some people with Proteus also have lung problems and are at high risk for
blood clots.
Cohen has also been diagnosed over the past four years with cortical dysplasia, where the
neurons in the brain failed to migrate in the proper formation during development, which
has caused him to have severe seizures requiring a VNS (vagal nerve stimulator). He
also has gastroparesis (delayed gastric emptying), pseudo obstruction (impairment in the
ability of the intestines to push food through), visual blindness, cerebral palsy, and is
nonverbal. He has a port for IV fluids, and a VP shunt for hydrocephalus. His additional
4
symptoms are thought to be related to a placental blood clot that occurred due to his
Proteus syndrome.
There are only 200-250 cases of Proteus syndrome. Joseph Carey Merrick, known as the
“elephant man,” was also known to have Proteus syndrome. Every person with Proteus
syndrome is different and no two people will have the same medical concerns.
Currently, researchers are working to develop a medication that targets the protein made
by the AKT1 gene.
Life with Proteus
It is what it is, Proteus or not. Cohen is who he is and we love him no matter what. We
have learned a different way of life, but a new perspective on life. We have a new
understanding of patience, strength, hope, love, and most of all a new sense of faith in
GOD. I couldn’t imagine our lives and our family any other way. We truly are blessed
and are thankful for all the things Proteus has taught us.
Below are two links I have listed for more information on Proteus and one on CLOVES
Syndrome, another rare overgrowth syndrome. For information about the NIH program
and doctors who are working on Proteus syndrome, please contact the Proteus Syndrome
Foundation.
5
http://www.proteus-syndrome.org/
http://www.clovessyndrome.org/
Jessica Pearce is a wife and stay at home mom to Cohen and his little brother. Cohen
and his brother have an amazing daddy who provides for them, loves them, holds them,
plays with them and who is teaching them great things! Jessica has always wanted to be
a nurse. She has a degree as a medical assistant, and had started classes for RN school
when she got pregnant with Cohen. After Cohen was born, she went back to school for
LPN. Unfortunately she was unable to finish due to Cohen's medical needs, but hopes to
someday go back. Everything happens for a reason, and for now she's Cohen's own
personal nurse! Can't get any better then that!
1
2
http://www.proteus-syndrome.org/proteus-syndrome/faqs/
http://www.proteus-syndrome.org/proteus-syndrome/faqs/