A Lil' Boy's Journey to Live….

Lung Biopsy Results.

Riley’s Angel Lungs have ZERO Rejection or Infection!!!

CHD #Heterotaxy #LoeysDietz #Transplant #Warrior #BeatingtheOdds Everyday. ❤♻️💜

Spoke to Dr Drant regarding Riley’s aorta. She confirmed that there is ‘some’ dilation however it’s not severe at this time. Since this is a new dx we don’t have previous notes on the aorta to compare to. During this year Riley will have the CTA of the head and neck. Hopefully combined with the annual chest CT he’ll have in the coming months. Depending how the year goes he may possibly also have the MRA. The best look at the aorta again will come with next year’s cath when they can compare to this year’s. All of this is radiation! Riley gets a lot of radiation. So for now it’s kinda a wait and watch and see.
Should have the results to Riley’s bronchosopy today. Will update when we know more. ❤

Biopsy Results .. 💚

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.

Update .. 💚

Update .. ❤

Update .. We are still working out the details of next week’s procedures. We know Riley will have his Bronch and Cath on Friday. Dr Ryan in GI was working with cardiac anesthesia to see if it was possible to also scope Riley while he’s under. With the new findings of Loeys Dietz Riley needs an MRA (Similar to MRI but checking blood vessels). Riley will also need to be sedated for that. Makes sense to try and do it while he’s already under anesthesia rather than sedating him again in the near future. The discussion now is the length he may need to be under to have three different docs come in and do their thing along with the MRA. We have already expressed that if it comes down to time we would rather do the MRA than the scope. So for now our opinions are being shared with the teams. Monday Riley sees a new geneticist, Dr Kallish and a new cardiologist, Dr Drant. Both are joining Riley’s team because of the Loeys Dietz.
Next week will be a busy week for Riley. Monday is CHOP to meet the new docs. Wednesday we head to Philly for a Covid test. Thursday is pretesting (labs, echo, EKG and stress test). Friday is Riley’s 8 year Transplant Anniversary and his procedures day.
Hope Everyone has a Great weekend! Will update again next week.

CHD #Heterotaxy #Transplant #Warrior #BeatingtheOdds Everyday. ❤♻️💜

Genetic Testing Results

We have received Riley’s genetic testing back. Everything except in regards to his kidneys which will be about another month or so.
Testing has shown the SAMD2 gene to have ‘differences’. This would be linked to the heterotaxy, structural heart issues, developmental delays.
We also learned that Riley has Loeys Dietz Syndrome. This also links to some issues we know Riley already has. Scoliosis, raised palate, extreme flexibility, ‘doughy’ skin, headaches, caved in chest. It also though causes blood vessels to loop and kink in ways they are not suppose to. This issue with the blood vessels puts people with Loeys Dietz at high risk for aneurysms.
We still have much more to learn about Loeys Dietz Syndrome. Dr Strong in genetics has been Wonderful. She has made herself available to answer any questions we may have and there are lots. She has also already reached out to Dr Lin in heart transplant and everyone is agreement that Riley needs to have blood vessel mapping done. CHOP will be calling Monday to schedule.
So in the end we were able to put a name on some of Riley’s issues but we’ve also opened a whole new can of worms. Aneurysms were never really something on our radar. Now we’ve been warned about severe headaches, which Riley gets, and having to figure out if they warrant a trip to the emergency room. Hopefully as we learn more the fear will subside.
As we venture down this new road we will be sure to update you all who have been on this Journey with us.

CHD #Heterotaxy #Transplant #Warrior #BeatingtheOdds Everyday. ❤♻️💜

Riley’s appt with GI went well. Dr Ryan would like Riley to have an endoscopy when he is having his Bronch and Cath in March. As long as Dr Rome (Cath Attending) isn’t concerned we will move forward with that plan. Dr Ryan is also reaching out to a new Attending in ENT, Dr Ruiz, who is specializing in swallowing. Hoping that a fresh set of eyes may have some ideas in regards to Riley’s aspirating. We are open to any ideas being that Riley still can’t drink.
Will update when we know more regarding the scope and Dr Ruiz. ❤

Update on Bone Infusion ..

The most Precious gift Riley has Ever received. The #GiftofLife. For Riley that included both Heart and Lungs. Riley’s Angel Heart has Always had Beautiful function. Monday’s ECHO showed that still to be True.
We are Forever #Grateful.
#CHD #Heterotaxy #Transplant #Warrior #BeatingtheOdds Everyday. ❤♻️

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