Frequently Asked Questions
Frequently Asked Questions - Compiled from doctors, families and people with CLOVES (Updated January 2014)
Is there a cure for CLOVES?
“Although there is no cure for CLOVES Syndrome, we can successfully address its complications. Our goal is to create a better quality of life for these children.” - Ahmad Alomari, MD Co-Director of the Children’s Hospital Boston Vascular Anomalies Center
Surgery and other medical interventions are the only treatments for CLOVES overgrowth, vascular anomalies and other related medical issues. Children's Hospital Boston just started doing research into CLOVES via genome sequencing in March of 2011. This sequencing led to the PIK3CA genetic mutation discovery of CLOVES in May of 2012. If you are interested in learning more about this research opportunity, you can email Dr. Matthew Warman at Matthew.Warman@childrens.harvard.edu or call (617) 919-2371.
In addition the National Institutes of Health (NIH) have recently expanded their eligibility criteria to include CLOVES Syndrome and related conditions. People with these conditions may be eligible to join this study. To find out more about the NIH research opportunity, please call (301) 435-6689. You can learn more about all research options for people with CLOVES on the website.
Are there any medicines to treat CLOVES?
The short answer is no, however there are studies overseen by Dr. Denise Adams at Children's Hospital Medical Center in Cincinatti and Dr. Cameron Trenor of Children’s Hospital Boston, to treat children with complex vascular anomalies, which many people with CLOVES have.
Check out the link to read more about the requirements for the study - your child may also be eligible for off trial/compassionate care use, as determined by each physician directing the study. Additionally, here is some preliminary information about how Sirolimus/Rapamycin has worked for some people.
Contact the doctors directly, for more information about this clinical trial. We are happy to share contact information with you, if you need it.
My child just got diagnosed with CLOVES Syndrome. A lot of what I have read is really scary. What can I expect for him in his lifetime?
As CLOVES is a rare and newly defined condition, there are many unknowns still.
A new diagnosis of a rare syndrome like CLOVES can be a challenging time that may cause anxiety and stress for patients and families. We believe that connecting to others is an important component of a new diagnosis, and may help to put some of the uncertainty and concern into perspective. You can connect with other families in our secret, non-searchable Facebook group by "friending" our Welcome Account.
In addition, Boston Children’s Hospital, in collaboration with other centers, just ramped up a new initiative to collect information from people currently diagnosed with CLOVES, in order to learn more about what the future holds for our loved ones. This project is called the Lymphatic Anomalies Registry.
Is CLOVES Syndrome Community part of CLOVES Syndrome Foundation?
Great question!! CSC and CSF are two separate organizations.
CLOVES Syndrome Community was developed in 2009 with the mission of: support, education, empowerment and improvement of the lives of those affected by CLOVES Syndrome. We believe that when parents and loved ones are informed, empowered, and connected with others facing similar challenges, they will be better equipped to support their own or their child’s medical, emotional, and physical needs. CLOVES Syndrome Community was determined to be a 501C3 (Non Profit Public Charity) Organization by the Internal Revenue Service in July of 2011.
CLOVES Syndrome Foundation raises money for CLOVES research.
You can learn more about CLOVES Syndrome Foundation and the great work that they do at www.clovesfoundation.org
My child was diagnosed with Klippel-Trenaunay Syndrome (KTS) or Proteus Syndrome and now the doctors say s/he has CLOVES? What's the difference?
CLOVES is a relatively new diagnosis just identified in 2007. Anyone who was diagnosed before 2007, was diagnosed with a different syndrome, as CLOVES did not yet exist. All three syndromes listed above are similar because they encompass both vascular anomalies and overgrowth. One of the major differences are that people with CLOVES have spinal involvement - be it scoliosis, spinal vascular anomalies or skeletal changes - and also have trunk/abdominal vascular malformations/overgrowth.
Additionally, people with CLOVES are born with some collection of physical differences and/or physical differences have been noted on prentatal ultrasound before birth. Conversely, people with Proteus syndrome are born without obvious physical differences, then develop progressive overgrowth and skeletal concerns as the child gets older.
Two additional concerns that some people with CLOVES have are : 1) an increased risk of developing blood clots and/or have 2) an increased risk of Wilms (kidney) tumors.
My child's doctors don’t know much about CLOVES - what should I do?
The medical management of CLOVES is extraordinarily challenging, and we recommend that you consult a Multidisciplinary Vascular Anomalies Center that has expertise with both overgrowth and complex vascular anomalies. We can help you in finding a facility near you and/or a multidisciplinary practice to collaborate with you and your child's local physicians. Additionally, Children’s Hospital Boston has a process where they review your child’s medical records, and may be able to provide a diagnosis and treatment recommendations, sometimes without a visit to Boston. Call the Children’s Hospital Boston Vascular Anomalies Center at 617-355-5226 to find out more about the VAC Conference process.
Is tethered cord something you are born with or can it develop later in life?
Tethered cord means that the spinal cord has some kind of attachment that prevents the spinal cord from moving freely within the spinal canal. This attachment is usually some type of tissue that children have from birth, like a fatty filum (strand of fat), lipoma (bigger collection of adipose - fat - tissue) or dermal sinus tract (strand of tissue from outside the spinal canal to the spinal cord). However, sometimes tethering can occur later in life, especially after surgery (when scar tissue can stick the spinal cord to the lining of the spinal canal) or after a bad infection, like meningitis (when the inflammation of the infection can lead to scar tissue). It is important to understand that there is a difference between radiographic tethering (which means that the MRI or other imaging studies show some kind of connection, but which may NOT have symptoms and may NOT need surgery) and clinical tethering (which means that one sees a site of tethering on imaging AND there are symptoms that can be directly related to the things that are seen on the imaging). If there is an attachment that is thought to be tugging on the spinal cord, then sometimes symptoms can develop - depending on where the tethering occurs - that can lead to problems with spinal cord function (like weakness, sensory changes, scoliosis (bend in the back) or pain). The diagnosis of tethered cord can be difficult and it is important to talk with physicians who see these kind of conditions routinely in order to put together the best plan of treatment for your child.
What are the reasons for not surgically treating tethered cord?
As mentioned above, there may be situations in which one can see some kind of tethering (attachment from scar tissue or birth-related structures) on imaging studies (like MRI), but which are not causing any symptoms. In some cases, it may be that the risk of doing surgery to disconnect the tethering site may be greater than the risk of leaving things alone. On the other hand, there are sometimes situations when the child has no symptoms, but the imaging shows a problem that will very likely become worse with time, in which case the risk of surgery - even with no symptoms - may be justified. The decision to operate or to monitor a tethered cord is often very dependent on individual MRI findings, symptoms and co-exisiting medical conditions, so it is important to talk to your doctor to learn about the pros and cons of different management plans.
Why do some people with CLOVES have scoliosis?
For now, this is an unexplained association with CLOVES. Asymmetric growth of one side faster than the other may be one theory. This is important to follow over time in CLOVES patients, especially before pubertal growth, so that any possible interventions to straighten the spine be employed before surgical rod placement is necessary.
My child just got a new lump on their body. What am I supposed to do?
New lumps and bumps can cause concern in CLOVES. Gradually enlarging lumps that feel like fatty tissue may be just that – lipomas. Rapidly expanding bumps may be infected (red, painful, fever) or newly blood-filled (purple, painful) lymphatic cysts or clotted venous malformations (painful, bruise-colored, hard). Physician evaluation is recommended for slow-growing hard lesions, lesions unlike others you’ve seen before in CLOVES, or for any lesions causing concern or needing medication (pain med, antibiotic) to speed recovery.
My child’s doctors are suggesting that my child have a large vein removed. I don’t understand why.
Many people with CLOVES are born with a large vein or veins. The concern about large veins and CLOVES is that the blood becomes stagnant (slow moving) and when the blood is not flowing effectively, there is an increased risk of a clot or multiple clots (also called a deep vein thrombosis, or DVT). The decision to remove or close a large vein should be directed by an expert in this procedure, and by weighing risks and benefits of removal. Options for treatment are by surgery, radio ablation (laser from inside the vein) or the vein may need be carefully monitored or observed. Removing a vein that has ineffective blood flow, does not negatively impact blood flow in that area.
My child’s doctor is recommending we remove her toes? How do I make the decision to amputate toes or alter her feet?
The decision to surgical alter a child’s foot is often a challenge for parents, to make. Often the recommendation to remove toes or change the shape of feet is made if:
1) the surgery will improve function (ie – walking, running) or
2) the surgery is restorative (helps child to fit into shoes, increase symmetry between feet).
Many of our families and children have been through this process, and are willing to discuss their experiences
I just found out through my child's quarterly ultrasound screening, that my child has cysts on her kidneys. What do we do next?
What we know is that there are a few abnormal kidney findings in people with CLOVES including difference in sizes, cysts, unusual architecture and Wilms Tumors. New or changing kidney abnormalities should be reviewed by a Multi-disciplinary Vascular Anomalies Center with expertise in CLOVES, to help determine their significance.
Where can I learn more about CLOVES?
CLOVES Syndrome Community is grateful for our Medical Advisory Board, who help us navigate the medical aspects of this syndrome. We are constantly updating information on the website and via social media, as more is discovered about CLOVES.
Sign up for our mailing list to be informed of the latest news and local events.
if you or someone in your family has been diagnosed with a CLOVES Syndrome, please message our Facebook fan page (https://www.facebook.com/CLOVEsSyndromeCommunity) and "friend" our welcome account at https://www.facebook.com/WelcometoCLOVESCommunity.
Our support group setting on Facebook is set to "Secret" making it invisible on Facebook searches.
Joining our CLOVES community group will give you the opportunity to connect with many of the people diagnosed with this rare disease to share information and support.
Check out our to CLOVES Facebook Page to share information and raise awareness about CLOVES with friends and family, and Children’s Hospital Boston has a newly developed CLOVES page.
If you have any other questions that were not answered here, please email us at email@example.com