what about the children?

WHAT ABOUT THE CHILDREN?
Marianne S. Clancy
Executive Director, HHT Foundation International
HHT Awareness and Education are more important than ever!
Since May 2012, our office has received notification of the loss
of 5 children due to HHT: some undiagnosed, others were not
screened as “nosebleeds were not really severe in our family”, and a
few unfortunately experienced an unpredictable event. In addition to
these children, there are many that have suffered an event or disability
due to HHT.
Recall the story of Will NeSmith, the 13-year old boy from Franklin,
Tennessee who suffered a spontaneous brain hemorrhage. Surgeons
from Vanderbilt University Medical Center saved Will’s life, but his
brain suffered serious trauma during the event. He endured 59 days in
the hospital struggling to regain consciousness, his ability to move his
body and speak again. I look forward to meeting him in April when I
attend the WillPower 5K.
As you can imagine, when these calls come in, they are so upsetting to
us in the office. As one of our Board members has often said, “people
do not understand that HHT Kills Children.” Yes, it does! There
are some people who have cautioned us to not scare people on the
website and in our educational materials. Our responsibility is not to
produce unwanted anxiety but to educate and empower, even though
some may not be ready to receive the information.
I wish I could say that this year was unusual. Unfortunately, it is not.
Each and every year, there is needless loss of life due to this disorder
and IT’S TIME WE DO SOMETHING ABOUT IT! We produced a video
that many within our community have not seen. It contains critical
information that can save a life: perhaps someone in your family. I
know all about people in denial, I have had that experience in my own
family. Unfortunately, it takes a catastrophe to get attention.
The video can be used to educate and empower. It is about HOPE
and screening that can PREVENT these events. It can be found on
our website, www.hht.org. The video can serve as a powerful tool to
educate those reluctant to be tested in your family.
We MUST get the attention of our Legislators and the Media as well as
key decision makers. I invite you to ENGAGE with us. For the children
— the next generation.
HHT does not define who we are or what we do. We all can make a
difference in the life of a child!
A Powerful Message from the heartbroken mothers…
Anthony Rodriquez
Age 14, Died 11/10/2012
Fontana, CA
Anthony died of a ruptured AVM
and he had nose bleeds all of his
life. Maybe if more physicians were
familiar with HHT, Anthony's nose
bleeds would have been further investigated and they would have discovered
his AVM in time to help him. He was a
trumpet player in the H.S. marching
band, a straight A honor student, and
the sweetest young man that anyone
ever knew. His smile would light up the
room, and he is deeply missed. I hope
that your awareness campaign will help
prevent any other families from having
to suffer a loss this great.”
Qadri was diagnosed at 5 years
old with Pulmonary Hypertension.
In 2007 he suffered 5 cardiac arrests in
a single day. At that time our doctor
hinted to watch out for these nose
bleeds. HHT was confirmed in 2009.
Since that time, diligence was certain
and a way of life. Qadri received care at
an HHT center as well as hospitals in
New York and Pennsylvania. Although
he had PH, my main concern was the
bleeding from HHT. We left no stone
unturned. In the end it was HHT that
claimed his life. Adored by many, in
Gods care ‘Q ’."
— Cindi Rodriguez
— Doreen Blair Skipper
Sarah had almost every organ affected by
HHT, yet with numerous hospitalizations
and procedures she was able to overcome so
much. Sarah had plans of writing for the HHT
newsletter talking about overcoming the
obstacles; of taking college classes;
and returning to work when the unthinkable
happened… in a matter of minutes Sarah was
gone due to a massive bleed that came so
unexpectedly. We pray Sarah's passing will
help others to understand HHT with more of
an acute awareness. Sarah reached out to
others with illnesses and we pray that her
legacy will continue.”
— Sharon Brashier
Sarah Brashier
Age 20, Died 8/20/2012
Saint Thomas, PA
Qadri Blair Skipper
Age 17, Died 9/27/2012
Jamaica, NY
I knew that something was wrong with Molly at
the age of eight weeks old. Her breathing was
fast, she was retracting, had stridor and generally just
seemed uncomfortable. I took her to our pediatrician
numerous times early on and throughout her life. I
also took her to the ER quite frequently in addition to
the fact that she was followed by numerous specialists. I expressed concerns that Molly had HHT on
many occasions. I asked to have Molly genetically
tested as there is a strong family history in my
husband's family. Molly had nosebleeds as an infant
and throughout her life. I was repeatedly reassured
that Molly was fine and that the nosebleeds were due
to dry air, nose picking, etc. They weren't. Molly did in
fact have HHT. I spent many years telling many
different physicians that I was concerned about Molly only to be reassured over and over that she was
fine, that I was over-reacting, and
reading too much into things. I
wasn't. I was right! It darn near kills
me every day to wake up knowing
that I KNEW something was wrong
with my daughter and no one listened to me or believed me and in
the end, I no longer have Molly with
me. I can't help but wonder how
Molly Dunne
things would be different if Molly
Age 7, Died 5/17/2012
had been diagnosed earlier. I can't
Wilmington, DE
help but think maybe I'd still have
her here with me. She never complained and never told me that
she didn't feel well. That was not Molly's personality. She was such
a strong and determined child. Anyone that ever told her “no"
quickly learned that to Molly, that was a challenge. Molly defied a
lot of odds throughout her life; she was tough as nails and never
stopped pushing herself. I have been very vocal about Molly's
story since the beginning. I have shared her journey with people
the world over. Molly was a twin and has an older brother. Ryan
and Kate miss her so much as do my husband and I. Our family has
been torn apart. We experienced the worst tragedy that could ever
happen…we lost our Molly. I tell myself that by continuing to share
what happened to us and educating others on HHT that it will help.
My husband has HHT. Ryan has HHT. I have a vested interest in
making sure people know about HHT as I cannot afford to lose
another member of my family.”
— Kristen Dunne
Paul went to Paris to celebrate
the completion of his finals at
DCU (university) when he suddenly
collapsed and died at 22 years old.
We knew that he had a microscopic
PAVM; it’s unbelievable to think that
this tiny thing can cause a fatality
12 months later. We want to raise
awareness here in Ireland — we
have so many young people wearing
the blue HHT awareness bands, it’s
great!”
— Dara Woods
Paul Woods
Age 22, Died 6/21/2012
Swords, Co. Dublin, Ireland
Screening Children from an HHT Family
N
ot all children show signs of HHT (i.e., nosebleeds and
“red spots” on the skin). Children without nosebleeds or
other symptoms of HHT can have AVMs in their lungs or
brain that require intervention.³ In fact, potentially life-threatening
manifestations of HHT have been identified in asymptomatic children
under 12 years of age.1
• If a family has had genetic testing, then all children in the family
should be tested against the identified gene mutation.
• If the family gene has not been identified, then a clinical evaluation
will be required.
All children diagnosed with HHT should receive a pediatric screening
for HHT. At the St. Louis Children’s Hospital HHT Center a
screening appointment consists of a thorough history, a physical
examination, pulse oximetry, a contrast (or bubble) echocardiogram
(CE), and brain magnetic resonance imaging (MRI) with and without
contrast.1 If a child’s initial screening is not conducted at an HHT
Center, it would be recommended that all patients with a positive
MRI or an abnormal echobubble test consult an HHT Treatment
Center for consideration of more invasive testing and further
treatment.
According to the Clinical Guidelines2, there is not consensus on the
recurring tests of children with HHT. However, it is recommended
by most HHT Centers that:
• Children with possible or confirmed HHT should be screened
for cerebrovascular malformations (brain AVM) in the first six
months of life (or at the time of diagnosis).4In addition, followup may be considered at the age of 2, 6, 12, and post-puberty
(since brain AVM development appears to correlate with times
of growth).
• Pulmonary AVM screening is recommended every 2-5 years, if
a pulse oximetry test result is 97% or higher. If a pulse oximetry
result is lower than 97%, or a child is short of breath, additional
tests or treatment may be required.
References:
1. Sekarski, L., Spangenberg, L. (2011). Hereditary Hemorrhagic Telangiectasia: Children Need Screening Too. Pediatric Nursing, Vol. 37, No. 4, 163-168.
2. Faughnan, M. et al. (2009). International Guidelines for the diagnosis and management of Hereditary Hemorrhagic Telangiectasia. Journal of Medical Genetics,
48(2), 73-87. Advance online publication. Doi:10.1136/jmg.2009.069013.
3. Mei-Zahav, M. et al. (2006). Symptomatic children with Hereditary Hemorrhagic Telangiectasia. Archives of Pediatric Adolescent Medicine, 160, 596-601.
4. Olitsky, S. (2010). Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management. American Family Physician, Vol. 82, No. 7, 785-790.