For Patients
Patient FAQs
As a parent of a child with Kabuki syndrome, how can the RKP benefit my family?
The Roya Kabuki Program is a family centered clinical and research effort that was established to improve the lives of individuals with Kabuki Syndrome and of their families. The more we can expand our understanding about KS, the better we can provide treatment and therapies for children such as yours in the future. We simultaneously strive to increase awareness about Kabuki Syndrome in both the medical and lay communities. It is our mission to improve your child's medical care and to make everyday life with your child even more wonderful. Whether you are interested in participating in research studies or planning a visit to Boston Children's Hospital to be seen by our team of specialists, the RKP is here to help your family. We invite you to reach out by telephone (857-218-KBKI) or email (kabuki@childrens.harvard.edu), whatever your unique needs may be.
What do I need to do to get involved with RKP?
There are many ways to get involved in the RKP. If you are interested in participating in research, scheduling a clinic visit, or want to support the efforts of the RKP, please contact the program coordinator via email at kabuki@childrens.harvard.edu or phone at 857-218-5254.
What are the goals of the RKP?
The goals of the Roya Kabuki Program are to advance research and education about Kabuki Syndrome. In order to do this, we welcome you to help us achieve the following goals:
- Build a biorepository of KS patient data and samples
- Launch a deep dive into the natural history of KS
- Increase the awareness of KS amongst the medical and lay community worldwide
- Improve the clinical care children receive by creating a team of Kabuki Champions at Boston Children’s Hospital
- Develop targeted treatments and therapies for children
Can I participate without providing samples?
There are many participation options, with collecting samples for lab analysis only being one of them. You are welcome to elect into as many or as few participation options as you would like. Providing medical records, genetic testing reports, and completing study surveys are all equally beneficial to the completion of the natural history study.
What will happen to the data collected from patient samples?
All samples and data collected by the RKP will be stored in a HIPAA compliant and protected biorepository, also known as a data bank, for Kabuki Syndrome at Boston Children's Hospital. Our study team may use the samples in different ways to advance knowledge about Kabuki Syndrome and work towards developing targeted treatments and therapies for the KS community. For example, researchers may study DNA changes, look at cells/tissues to identify biochemical or cellular changes related to KS, or create ‘cell lines’ (a cell lines can continue to grow to make more cells) with a study sample.
What are the timelines of the RKP?
The Roya Kabuki Program team is persistent in our effort to achieve the goals we have set. Research efforts are ongoing, and there is no limit to the number of families that can participate. We will continue to work every day to care for the KS community, to change the medical care children receive for the better, until we achieve our ultimate goal of finding a cure.
Who are the stakeholders of the RKP?
The Roya Kabuki Program is located at Boston Children's Hospital, which is an academic and not for profit hospital in the United States. The RKP will distribute newly gained knowledge on KS by publishing in medical scientific journals accessible to biomedical professionals around the world.
I have a question about my enrollment in the research study and/or about the Roya Kabuki Clinic. Who do I contact?
For any questions related to the research study or the Roya Kabuki Clinic please contact the project coordinator, Tara, via email at kabuki@childrens.harvard.edu or phone at 857-218-KBKI (5254).
Who can enroll in the research study?
We typically enroll a ‘trio’, in other words, mom, dad, and the child with Kabuki Syndrome. You can still participate in the research study if enrolling the entire trio is not an option. If there are other siblings or family members that would like to enroll, please contact Tara.
If I enroll in the research program, do I also need to make a clinic appointment?
Participation in the research study and in the Roya Kabuki Clinic are independent of one another. You can choose to only enroll in research, to only be seen in the clinic, or to be involved in both.
Some research tasks (ex. Neurobehavioral testing, muscle impedance measurements, etc.) must be completed at Boston Children's Hospital. There is no requirement to participate in these research tasks if you do not wish to complete them and/or are not planning to travel to BCH. If you would like to travel to BCH and schedule these research tasks we can work with you to coordinate with any existing clinical appointments to reduce travel.I received a research enrollment packet in the mail. What do I do next?
Once you have a chance to review all of the paperwork in the packet you should contact Tara to go over your next steps. She will be able to help you go through the paperwork, including the consent forms, and answer any questions you may have.
I received a research enrollment link via email. What do I do next?
Once you have a chance to review all of the consent forms in the REDCap eConsent form you should contact Tara to go over your next steps. She will be able to help you complete consent forms, and answer any questions you may have.
My child sees multiple clinicians, who should we request medical records from?
We can request records from other clinicians. We usually recommend at least providing a release of records from your primary care physician or geneticist, or whomever you feel would have the most relevant medical history for your child.
My child has difficulty with blood draws, what should we do?
We understand that many children with KS have difficulty getting blood drawn, and some are only able to work with IVF teams. We encourage coordinating the blood draw for this study with an already scheduled clinical draw if possible, and with the medical professionals you are most comfortable with.
We can't schedule all of our family's draws on the same day, what do we do?
This is not a problem. Please contact Tara and she will provide you with the additional shipping materials needed to send the samples back separately.
Can we send the blood and urine samples back on separate days?
Yes, the samples are shipped back to us in separate packaging and the order in which we receive them has no impact on the research.
Will I be billed for the blood draw?
There are no costs associated with participating in this study. If you are charged for a blood draw or for any other study-related fees, please forward the bill and proof of payment to kabuki@childrens.harvard.edu to get reimbursed.
I need to get my blood drawn at an outpatient phlebotomy lab, what do I do to prepare?
You can take the blood sample kits to almost any outpatient phlebotomy lab. If you contact Tara prior to getting blood drawn, she will coordinate with the lab of your choosing and make sure they are aware you are coming for a research blood draw.
Can I get my blood drawn or send samples on a Friday or on a weekend?
All samples are sent overnight to the lab, so we ask that they are brought to a FedEx location Sunday-Thursday to ensure that a member of our team is here to receive them. Please contact Tara if you do need to get blood drawn and/or ship samples Friday-Sunday or before a holiday.
Can I, or my child, get blood drawn while taking antibiotics?
If you or your child was prescribed a short-term course of antibiotics, we ask that you wait to get blood drawn until after you have completed the course of antibiotics. If you or your child are on a long-term course of antibiotics, please contact Tara to coordinate your blood draw.
Where can I find more information on local accommodations and air travel resources?
If you are planning a trip to BCH, we encourage that you reach out to our social worker, Julia Thomann (857-218-5251). She will work with you to identify resources to make your trip to Boston as easy as possible.