A Lil' Boy's Journey to Live….

Riley appointments on Tuesday went well.
PFTs and labs were all within ‘Riley’s range’. Dr Josephson asked if Riley would be interested in being part of a study on the antibodies after receiving the Covid vaccine in solid organ transplant recipients. 100% Yes to that!! So far studies have shown that SOT recipients appear to not have many antibodies even after their second dose. We already figured that would be the case but participating in the study will give us Riley’s actual numbers and if the vaccine offered any other type of protection. Also to be a part of what could be done to offer SOT recipients more protection.
Riley also saw Dr Drant in cardiology. We further discussed Riley’s Loeys-Dietz diagnosis. Really nothing new to add to what has been previously posted. We were able to visually see though the blood vessels in the back of Riley’s head, as seen in the first picture, that have tortuosity. Uncommon for the average person but common with LDS. The good news is the vessels don’t tend to change over time. So they won’t get worse. The second picture is of part of Riley’s aorta. From the root which is donor to his native aorta. One can see from the picture that there is some dilation in Riley’s native aorta. We are being assured that the measurements are not concerning at this time but will be continuously monitored through echo and when Riley has cardiac caths. The type of SMAD2 mutation that Riley has, so far, has shown to cause more issues a little later in life. That being said Riley is still case 1 of 1 when it comes to the SMAD2, Loeys-Dietz, Heterotaxy, Complex Congenital Heart Disease and heart lung transplant in a patient. So we will continue to watch closely and deal with any issues as they may arise.
For now Riley is headed into summer one Happy kid!! He received an invitation back to heart camp CHOP. As long as there is enough space for any new kiddos to attend Riley will be going to heart camp in July! He also is Super Excited to be going back to Liberty Lake Day Camp for 2 weeks in August! Riley has spent 95% of his time at home since March 2020. He’s ready to get back out and Live this #GiftofLife that he has been given!!

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

1st Shot down .. 💚

Riley is Super Excited and Proud to share that he got his first Pfizer vaccine!! Looking forward to Better days ahead .. for Everyone!!

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

Riley’s CT and CTA results are in.
The CT for his lungs did show some increase to the air trapping or mosaic air patterns. What that means is there appears to be more bronchiolitis obliterans or chronic rejection then at the last CT in October. Thankfully Riley is not symptomatic so for now we’ll continue to monitor. If symptoms started to appear that is when an open lung biopsy will be discussed but thankfully we are not there at this time.
The CTA showed arterial tortuosity or curvy vessels towards the back of Riley’s neck. Though it’s rare this is a typical finding with Loeys-Dietz. There was no aneurysms present. We did inquire if this could be the cause of Riley’s frequent headaches but have been deferred to Dr Licht (neurology) for those answers.
So for now like pretty much everything else in Riley’s life we monitor. Riley will continue to Live the Life he so Loves to Live and we’ll cross each bridge when we get to it.

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

Update .. 💚

Update .. Riley’s genetic testing that was pertaining to his kidneys has come back with no new genetic findings. The thought is that the kidney cysts are related to the previous findings of SMAD2 but aren’t completely sure at this time. Further research is being done.
What does this mean for Riley’s care as far as the kidney cysts? At this time we will wait to see nephrology again until October. People can live with the cysts forever without issue. For others it can turn into a bigger problem leading to kidney disease. We don’t know at this time which way this will go for Riley.
Honestly this is really the case with everything Riley! We just don’t know! So we’ll continue to face each battle as they arise and Riley will continue Loving the life that has been so Generously gifted to him.

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

Update.

https://fb.me/e/207rSjmHL

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.

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