Have you ever heard of oxytocin?  If you have, its likely related somehow to labor or childbirth.  Oxytocin has been used for a number of years to help start or strengthen contractions during labor and for some post-partum and breastfeeding uses.  However, lots of research has been done on oxytocin as it relates to social behavior as it is sometimes known as a “happy hormone” as oxytocin promotes social bonding and trust, and can reduce stress and anxiety.  In fact, a lot of oxytocin research has been done specifically for Prader-Willi Syndrome (which again is closely related to Schaaf-Yang Syndrome).  Here is a article from a researcher in Dr. Schaaf’s lab, Ferdinand Althammer, that speaks in depth about oxytocin and PWS/SYS (https://www.nature.com/articles/s41398-022-02054-1).

We had heard about the potential benefits of oxytocin for Hayden for a little while and were encouraged by the potential of benefits for improved swallowing, core strength and cognition that some of the studies have shown.  However, given that the research is very early on and some of the studies performed show mixed results or inconclusive results, oxytocin is not FDA approved for use in this type of treatment.  This means it can’t be easily prescribed and it is not in a manual or standards of care document to treat PWS/SYS.  In fact, we went to our local endocrinologist to see if she would be willing to prescribe it for Hayden.  We even sent her the medical studies published in reputable medical journals.  We even connected her with the “expert” endocrinologist in SYS, Dr. Miller from the University of Florida (you will see her name all over that article posted above).  However, in the end, she wasn’t comfortable prescribing it for Hayden as it was not an FDA approved treatment… and its hard to blame her.

Now most people would stop there and accept that treatment wouldn’t be an option, but not us.  We did our homework and diligence.  We spoke with Dr. Jennifer Miller, we spoke with Dr. Schaaf, we spoke with Ferdinand (see article above)… three of the world’s experts on oxytocin and SYS.  We evaluated the potential benefits (which were many) with the potential risks (which are negligible) and decided we weren’t going to stop until we at least tried this as a treatment for Hayden.  Now I won’t bore you with all of the details, but in case you didn’t know, doctors in the U.S. can’t practice across state lines or even have virtual medical visits.  That meant that we had to go to Florida and convince Dr. Miller to take Hayden on as a patient.  Unfortunately, Dr. Miller is a very sought after person and has a full schedule of teaching, seeing patients and performing research, that she didn’t have any appointments open.  However, fortunately for us Dr. Miller is a wonderful woman and made time for us in her office to see Hayden and talk to us.

While this post isn’t about our visit with Dr. Miller, I’d be remiss to not state how blown away we were by her generosity, gentle nature, advocacy for Hayden, and just generally how cool she was.  She spent hours talking to us about Hayden, her needs, her diet, everything she has learned about PWS/SYS, oxytocin, growth hormone, etc.  We are forever grateful for her, not only because she prescribed Hayden oxytocin, but for everything she does to advance care for PWS/SYS kids.

Now we had a prescription.  Next, find a pharmacy who will compound it for us since it is not FDA approved to get at your local CVS or Walgreens.  We found one in California that is regulated by the FDA, so we felt comfortable and confident (also Dr. Miller approved).  After a long saga and advocating, Hayden is starting treatment.  Stay tuned on how it works out.

This special needs life it tough.  The medical system feels like it is stacked against you.  I have learned in Hayden’s 2+ years of life that we have to advocate for her harder than we ever imagined to give her the best chance of having the best outcomes.  It’s exhausting, but it’s worth it.  She’s worth it.

Thank you Dr. Miller.