We know that Scimitar Syndrome/ Hypogenetic lung syndrome were the syndrome’s that the doctors were placing Jackie’s conditions under after my discussion with Dr. Cibulskis in March. As stated before we are still awaiting the team of Doctors to meet and discuss the results of Jackie’s autopsy results. I will share my notes from that phone call once it takes place.
“Scimitar, or pulmonary venolobar, syndrome is a rare but well-known congenital cardiovascular defect that includes a hypoplastic right pulmonary artery and right lung, which leads to displacement of cardiac structures into the right hemithorax, anomalous systemic arterial supply to the right lung, and a characteristically curved anomalous right pulmonary vein that drains into the inferior vena cava and resembles the curved Middle Eastern sword “scimitar.”1,2 A variety of congenital thoracic abnormalities are associated with this specific type of partial anomalous pulmonary venous return.”
http://circ.ahajournals.org/content/121/23/e434
Other readings:
http://www.annalsthoracicsurgery.org/article/S0003-4975(98)01227-2/abstract
*Note these are websites that I have researched, they are not recommended readings from Cardinal Glennon.
We also know after the results of the extensive genetic testing that we have a less than 1% chance of Jackie’s conditions reoccurring…this of course coming from the 5,000 genes that the genetic team is knowledgeable of. There are still around 15,000 that they do not currently understand the function of. That being said…there is still a chance that his conditions are genetic. However, we are taking the current findings and embracing the positivity that comes with them. Currently, there is a less than 1% chance of his conditions reoccurring. There is also a less than 1% chance that our future kiddos could be effected by the mutated gene DHCR7 that Jack is a carrier of.
“Smith-Lemli-Opitz syndrome (SLOS) is a variable genetic disorder that is characterized by slow growth before and after birth, small head (microcephaly), mild to moderate mental retardation and multiple birth defects including particular facial features, cleft palate, heart defects, fused second and third toes, extra fingers and toes and underdeveloped external genitals in males. The severity of SLOS varies greatly in affected individuals, even in the same family, and some have normal development and only minor birth defects. SLOS is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase that results in an abnormality in cholesterol metabolism. SLOS is inherited as an autosomal recessive genetic disorder.”
https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/
Other readings:
http://www.smithlemliopitz.org/
*Note these are websites that I have researched, they are not recommended readings from Cardinal Glennon.
We know of these items but it is still unclear as to how Jackie’s conditions formed. As of now, genetics is not the answer and the cause of the syndromes that his conditions were placed under are not well known. We don’t have an answer…and we may never have an answer. This is something that I/ we have excepted…I have embraced the fact that he has a purpose that we may never know of. But…he still has a purpose. To the very core of my existence I believe Jackie has a purpose. As of now he is an anomaly…he is unexplainable…he was a less then 1% chance. He lived, he loved, and he will continue to make an impact on our lives and everyone around us.
We love you Jackie!
#ourjackofhearts