HHT/JPS Defined:

Both Jay-Are and Bug have been diagnosed with Hereditary Hemorrhagic Telangiectasia (tel-AN-jee-eck-TAZE-ee-ya) / Juvenile polyp syndrome (HHT/JPS). Jay-Are has previously had many symptoms and complications from this disorder that only recently have we been able to put together and give a name to.

HHT (also known as Osler-Weber-Rendu) affects approximately 1 in 5,000 people, males and females equally from all racial and ethnic groups. Most simply defined it is a hereditary disorder that is characterized by abnormal blood vessels. This disorder presents itself through the abnormal formation of capillaries between arteries and veins – basically it means you don’t always form normal capillaries and that causes telangiectasia’s (tel-AN-jee-eck-TAZE-ee-ya) in the smaller blood vessels and Arteriovenous malformation (AVM) in the larger blood vessels.

These abnormal formations have a tendency to bleed, and depending upon where they are located and the size of the telangiectasia, it can cause major complications. These most commonly occur on the face and hands and the lining of the nose and mouth. Recurrent nosebleeds are common (the most common symptom) of HHT. Telangiectasia’s can also show up in the digestive tract which can cause bleeding leading to anemia.

The larger AVMs can be in multiple organs, but most typically are seen in the brain, lungs and liver. In Jay-Are and Bug’s case they only have pulmonary AVMs. These AVMs cause a person to be at a higher risk for both stroke and brain embolism due to the lack of capillaries to screen the blood through.

A great website for additional information is http://curehht.org/about-hht/. I would encourage everyone to learn more as this is a disorder that is often left undiagnosed or misunderstood.

JPS is a disorder that occurs in approximately 1 in 100,000 people worldwide. Most simply defined it is characterized by multiple non-cancerous growths, these typically start to develop before the age of 20, in the gastrointestinal (GI) tract, typically in your large intestine (colon). The number of polyps can vary from person to person anywhere from just a few, to hundreds, even within the same family.

JPS is the area that we as a family have the most experience, as this is what has caused many of Jay-Are’s symptoms and therefore as a result surgeries in the past. Up until recently Jay-Are had been clinically diagnosed with Familial Adenomatous Polyposis (FAP) due to the shear amount of polyps that he had in his colon, but we have recently learned that he does not have this at all. This is a relief in many ways, but doesn’t change the past and the pain that he has gone through, it does however allow us a clear path for the future for Bug and her treatment plans.

Both of these disorders are caused by a mutation on the SMAD4 Gene. Approximately 15-22% of people with an alteration to this gene have the combined disorder. So it’s a relatively rare thing to have the combined syndrome, but not unheard of. One of the hardest parts of dealing with this disorder is just not knowing what we were dealing with for so long. It’s been 13 years of various random symptoms for Jay-Are, only to have them all put together and confirmed because of the situation that we recently had with Bug.