A Lil' Boy's Journey to Live….

Loeys Dietz Syndrome

We have been given a letter from CHOP to give to Riley’s school and to carry with us in case of an emergency. (We will also be updating Riley’s medical alert bracelet.)
We are sharing because the letter gives you an idea what Riley is up against with this new diagnosis of Loeys Dietz Syndrome.

It all sounds a little Scary and Intimidating but it’s better to know so we can be aware and provide any preventive care that we didn’t know previously was necessary.

Riley’s Cath on Friday did show some dilation of the aorta. The part of the aorta that is native to Riley. Hopefully we will hear from Dr Drant on Monday about what this means for Riley.

See Below … ❤

In the event of an emergency, call 911 to take Riley to the nearest Emergency room. Take this letter with you!

Call the CHOP hospital operator at 215-590-****. Ask the operator to page the Metabolism Fellow.

LOEYS-DIETZ SYNDROME: EMERGENCY MANAGEMENT Suspected AORTIC RUPTURE/DISSECTION or Collapse of Lung (PNEUMOTHORAX) or ORGAN RUPTURE.Immediate attention in an Emergency Room is MANDATORY for any type of PAIN: 1) In the chest, back or abdomen that is along the midline of the body(in front, back or both)that is either especially severe or sharp and has a burning or tearing quality -OR - 2) Is relatively severe and totally different than any pain the patient has ever been felt before.

The medical staff should give IMMEDIATE attention to the person, and check: Air entry into the lungs Blood pressure and pulse volumes in all 4 limbs.

The following TESTS should be done IMMEDIATELY: MRA or CTA of head through pelvis EKG and ECHOcardiogram Chest and abdominal X-ray If there is any suspicion that the aorta has dissected or ruptured, a CARDIOVASCULAR SURGEON should come to attend to the patient as soon as possible – THIS IS A LIFE-THREATENING SITUATION.

* Consider Medical evacuation (helicopter/ambulance) to a tertiary-care hospital *

MANIFESTATIONS OF LDS AORTA AND ARTERIAL TREE The walls of the aorta and arteries in an individual with Loeys-Dietz syndrome may be weakened and stretch (dilation). Dilation of the aorta - anywhere along its length - and arteries (from head through pelvis) may suddenly lead to tearing (dissection) or bursting (rupture), causing serious heart and blood pressure problems or sometimes sudden death. Dissections can cause a variety of symptoms (the 5 Ps):

Pain: severe pain usually in the chest (front, back, or both), occasionally in the abdomen (belly) Pallor Pulselessness Parathesiae (tingling or difficulty feeling things, usually in hands and feet) Paralysis Some individuals with aortic dissection have reported nausea, vomiting, or shortness of breath. If a branch of the aorta is involved, there may be weakness in one or both legs or arms. In rare situations, the physical symptoms of a stroke or transient ischemic event could be a result of a dissection. If an artery to the eye ruptures, then visual disturbances may be noted.

LUNGS - The alveoli (air sacs) in the lungs of people with Loeys-Dietz syndrome are less elastic. If these air sacs become stretched or swollen, there is risk of lung collapse (spontaneous pneumothorax). ORGAN RUPTURE Rarely, rupture or tear of hollow organs (spleen, intestines) may occur.

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