Click on the + sign to see the answers to the questions below.
What is the cost to attend the conference?
What is included in the registration prices?
- Welcome Reception.
- “22Q BBQ” Character Dinner.
- All Conference Materials.
- Daily Catering as per the program.
- Attendance to all Conference Sessions.
What is not included in the registration price?
- Childcare is available, but is not included in the registration price. Kid’s Nite Out is a childcare service contracted by Disney to provide childcare services at their conference sites. For more information and to register your child directly with the organization, please see the Childcare at the Conference link under the Kids menu section above.
- “22Q BBQ” Character Dinner for family members who are not registered for conference is also not included in the registration price.
- Hotel rooms during the conference, please see Hotel Registration link under Hotel menu item above to reserve your room.
Is there a way to reduce the cost of attending the conference?
Can I extend my stay at Disney World at the discounted conference price?
Who should attend this conference?
Why is the conference not free?
Can I have a scholarship to attend the conference?
My child has VCFS, is this conference for me?
Can you tell me about the Same Name Campaign?
In 1982, Dr. Elaine Zackai, a pediatric geneticist at CHOP, performed chromosome studies on a child with symptoms of DiGeorge plus other features (truncus arteriosus, hypocalcaemia, immune deficiency, cleft palate, and a malformation of the intestines). Dr. Beverly Emanuel, the head of the chromosome lab at CHOP, performed the studies and found a piece of chromosome 22 and a piece of chromosome 10 missing in that child. Dr. Zackai consulted with Dr. DiGeorge asking him if he had any patients DiGeorge syndrome (a collection of findings generally name after the person who first described them), and in fact he did. All of Dr. DiGeorge’s patients had a piece of chromosome 22 missing and some other chromosome other than number 10; thereafter it was concluded that DiGeorge syndrome was due to a missing piece of chromosome 22. The paper was published by Dr. Zackai’s trainee at the time, Dr. Richard Kelley, now a highly esteemed geneticist at Johns Hopkins in Baltimore, in the Journal of Pediatrics.
Following this discovery, Dr. Emanuel tested many patients with DiGeorge syndrome but only found the piece missing visibly under the microscope on chromosome 22 in 25% of patients. She later developed the FISH test. Concurrently, Dr. Peter Scambler, a clinical geneticist and researcher, developed a similar test in London and both were used until new and improved lab tests were developed (MLPA; arrays; etc.).
Once the FISH tests were introduced, most patients with DiGeorge syndrome were found to have a deletion. Thereafter, an overlap in clinical features in patients with DiGeorge syndrome, VCFS (Velo-Cardio-Facial-Syndrome), and CTAF (Conotruncal anomaly face syndrome) was found. Here again, most were found to have the deletion. Subsequently, patients with other diagnoses began to join the pot (autosomal dominant Opitz G/BBB syndrome with feeding and swallowing problems, airway issues, widely spaced eyes, cleft lip and palate, etc. and Cayler Cardiofacial syndrome with heart disease and asymmetric crying facies).
Thus, although the clinical findings are extremely variable, the one thing all of these patients have in common is the deletion. The whole topic is clearly complicated but it needn’t be if we decide to treat all patients with the deletion the same. A checklist of things to concern ourselves with based on the overall experience is implemented. With this, some things can be checked off permanently and others, like hypocalcaemia, need to be monitored over the lifetime making this topic a little less complicated.
The confusion may occur because some individuals have symptoms of the 22q11.2 deletion but they are not deleted. In fact, some have totally different diagnoses like CHARGE syndrome due to mutations in a gene known as CHD7. These children have heart defects, immune deficiency, hearing loss, and developmental disabilities. Some have other findings such as eye differences but just like children with the 22q11.2 deletion there is significant variability. So, although their findings are similar, they are not the same. Congenital heart disease is common in the general population, as well as in individuals with syndromic diagnoses, and so are palatal differences. In fact, there are several “syndromic diagnoses’ which overlap the 22q11.2 deletion such as Kabuki syndrome and Goldenhar syndrome, but regardless they are not the same in their etiology, prognosis and recurrence risk. However, there are ~ 50 genes involved in the 22q11.2 deletion and some of these genes may, in fact, be involved in the same pathways as the genes responsible for similar diagnoses like CHARGE syndrome so in the end we may well understand it all (and we are working hard to do so which is why we formed the International Consortium). However, it is also important to point out that things like maternal diabetes can also cause similar features (heart defects, immune problems, and low calcium) so we still have much work to do. It is best to care for patients with the 22q11.2 deletion under that umbrella name, as again, it is the only thing that all individuals definitely have in common. Should an individual have a change in one of the genes within the deletion only, such as a handful of patients with a TBX1 mutation, we would not group those patients with those who have a deletion. In our experience at CHOP, although individuals with smaller deletions within that 22q11.2 region do seem to have the same variable features, including conotruncal heart problems, as those with the standard usual deletion (which is seen in about 85% of people with a 22q11.2 deletion) we feel comfortable caring for them in the exact same way that we do for everyone else with the deletion (at least until evidence tells us otherwise) – which is our most pressing goal – provide the best treatment plan possible for patients; and be sure that all families are able to recognize that they are part of a much larger community with very specific healthcare recommendations available for them and their healthcare providers.
The reason for the same name campaign is to educate clinicians so patients come to attention as early as possible (in fact there is now a newborn screening test being piloted in the US which will hopefully become federally mandated within the next year), as well as to bring families together. Currently, the community is fragmented as folks don’t know that the child with DiGeorge syndrome, due to a 22q11.2 deletion, has the same underlying diagnosis as the child with VCFS due to the 22q11.2 deletion and therefore could benefit from the same support organizations and scientific findings, etc.
What is the nearest airport to Disney’s Yacht and Beach Club Resort?
What are my transportation options from the airport to the Resort?
If you do not wish to travel by Disney’s Magical Express, transportation by bus, shuttle vans, as well as taxis is also available. The cost of transportation is approximately $4 by bus, $21 for shuttle vans, and $60 for taxi services one-way.
Travel time from the airport to the Resort is roughly 45-75 minutes.