This past month we had the chance to take Kimber to see leading Prader Willi Expert/Pediatric Endocrinologist Dr Jennifer Miller in Gainesville, FL.
Yes, at 30 weeks pregnant we scraped together the money, packed up our very busy two year old and flew across the country to see a doctor. This decision has had many of our family and friends scratching their heads. We have such wonderful care here in state with one of the only states in the nation that offers a multidisciplinary Prader Willi clinic. Our endocrinologist is more educated than most on PWS and is supportive of early growth hormone treatment. So why did we feel the need to go see someone over 2,000 miles away?
Personal
With a new baby on the way the level of anxiety in our home is higher than usual. My only child birthing experience was nothing like what I thought it should be. This pregnancy really has felt like being pregnant for the very first time the difference is that this time around I am painfully aware of ALL that could go wrong. Having a baby not as "fool proof" as I was so naïve to think when I was pregnant with Kimber. Besides this, with Kimber's therapy and appointment schedules, I have often wondered if we CAN handle another child without taking away from the demands of her special care. Don't get me wrong, we are VERY excited to have another baby. It is just hard to imagine a life with a newborn that doesn't involve hospital stays, multiple therapy appointments a week, and traveling to see specialists.
After we received Kimber's diagnosis I wanted to make sure I did absolutely EVERYTHING to give her her very best chance to reach her full potential. Some of the things on that list included enrolling in Early Intervention services as well as private therapy, hold a fundraiser to help contribute to research, start human growth hormone, continue a blog to document our journey, raise awareness, and help other families, Most of the things on the list we have been able to accomplish these first two years. One of the remaining items on the list was to see Dr. Miller. When my husband's company announced that the company retreat would be in Tampa, FL this year I knew, despite being pregnant and rather uncomfortable, that this was our chance. As a mom I just needed to know that I have done everything I could. Then we can continue to take this day by day and handle whatever PWS chooses to throw at us as it comes up but I will not have to question if I should have done something differently.
Credentials
Our endocrinologist sees about 30-40 patients a year with Prader Willi Syndrome (which is roughly 29-39 more than most families can say, I will admit). However, Dr Miller sees HUNDREDS of individuals with PWS. She has devoted her entire career to the syndrome and so I knew that she would have the answers to questions other doctors just couldn't answer for me. Some of these included "Where is Kimber at on the spectrum?" "What nutritional plan should we be following?" "What parenting techniques are most effective with kids with PWS?" "Are we missing anything that could significantly help her development?" Dr Miller's extensive experience allowed me to have 100% confidence in her answers.
So was it worth it?
Oh yes!
Although it was INCREDIBLY hot, humid and uncomfortable at times, we are SO glad we took this opportunity and went. We were able to spend five days just relaxing during our last vacation we would take as a family of three. We hung out on the beaches in the most amazing sand, Kimber learned to love the water, and we went to SeaWorld. At the end of the week we had our appointment to see Dr Miller just hours before flying home.
Dr Miller is AMAZING! She walked in to our appointment and gave us a BIG hug. Then her attention turned all to Kimber, who was acting a little shy and nervous when she realized we were in another doctor's office. After trying to coax a few words out of her she simply turned to us and announced "We're going for a walk. You guys stay here." They were gone for about 10 min. When they came back Kimber had bubbles and a puzzle and was just chatting away with her new bestie. Dr Miller was SHOCKED at how much she is talking and informed the medical student she had shadowing her that day that this was most definitely not typical of a child with PWS. She sat on the floor and played with Kimber for another 10 min or so before we got down to the "nitty gritty".
Kimber HAS entered the next phase of PWS: Phase 2. According to her lab work she has been in Phase 2 for some time. This phase is NOT the point where Kimber feels constant hunger. This phase is usually marked by significant weight gain without a change in diet. She quickly followed this by telling us that Kimber's growth looks AWESOME. She is very happy with her height and weight. She feels that, based on her lab work, that as long as we continue doing what we are doing nutritionally we will never see significant weight gain with her. This was good for me and as mama to hear. I have been SO stressed about Kimber's diet ever since we started solid food and it was a much needed "pat of the back".
It looks like Kimber's g-tube is here to stay for the time being. It ABSOLUTELY saved our bacon while we were there in Florida. Kimber refused to drink much of anything while we were there and so we had to stop and give her fluids multiple times a day to keep her hydrated. This is very typical of individuals with PWS. They don't feel thirst. They don't get any satisfaction from drinking a glass of ice cold water. Because of this drinking plain water is a behavior that has to be taught. Just like how we teach our children to wash their hands before they eat we have to teach our kids with PWS that "we drink water before we eat".
I was concerned because lately Kimber has asked for me to put water through her g-tube. I expressed my frustration that I feel that my only choices right now are to give Kimber fluids through her g-tube or flavor her water with artificial sweeteners. Dr Miller's opinion was that she would MUCH rather see Kimber keep her g-tube until she was 6 or 7 and we are able to bargain and rationalize with her than getting her used to drinking sweeteners. If we do HAVE TO use flavoring (and some parents do) she recommends Hint Water or True Citrus (Lemon, Lime or Orange flavoring are the only flavors that don't have added sugar/sweetener. Most kids like the orange best.)
Since giving birth 2 years ago, I have never sat in an exam room with a doctor and felt so much hope and EXCITEMENT about Kimber's future. The most exciting part of our visit was when my husband, who is much braver than I am, asked what Dr Miller felt Kimber's future looked like. She told us Kimber is on the very mild end of the spectrum. She complimented her speech development and cognitive function and told us it's a pretty safe bet at this point that she will have an average IQ. She told us that she needs to be in mainstream school with typically developing peers. Her fine motor skills are still just a little behind the curve but this is the only area she is delayed and she was able to give us a few ideas to help with developing the muscles she will need to perform the handwriting mainstream school will expect of her. The most exciting part of our appointment was when she told us that we need to expect of Kimber exactly what we will be expecting of our future children. She feels confident Kimber will go to college, live independently and get married.
She was able to fill us in on currently clinical trials that she is a part of. She excitedly told us in a trial that she just completed testing the effects of oxytocin in children with PWS several parents made the comment that they were finally seeing what their child would be like without PWS as they watched their anxiety and food seeking behaviors melt away. The passion and excitement she showed while telling us about the promising future she sees for "our kids" was nothing short of contagious and Shawn and I left the office on Cloud 9. She spent over TWO HOURS with us. I kept apologizing to her for taking so much of her time and she kept assuring me that she had planned her whole day around us and that we could have as much of her time as we needed.
We have been blessed with excellent care for Kimber but this trip was a game changer for us. It was worth the planning and sacrifice (and the horribly swollen pregnancy "kankles")
Want to make the trip?
If you would like to take your child to see Dr Miller here are some questions that I have been asked by several parents since we have come back:
Do we need a referral?
If your insurance is going to cover the visit then yes. It should be as simple as calling your pediatrician and asking him to send one. If your insurance won't cover the visit (like ours wouldn't) then it may be more affordable than you realize. The cost of a visit is about $250 if the office needs to bill you but if you pay at the time of service it is only $89! The BEST $89 we have spent! If you will be paying out of pocket there is no need for a referral, just call and schedule your appointment.
Where can we stay?
We stayed at the Holiday Inn Express (3905 SW 43rd St.Gainesville, FL). If you ask for the SHANDS discount it is $85 a night. It's nothing fancy but it was clean and the breakfast was good.
What about flights and car rental?
You can either fly in to Orlando or Tampa. If you "bundle" through a website like Expedia you can find a pretty good deal. We were having some trouble booking our flight and I ended up calling a travel agent to help figure out what was wrong (turned out to be an error on our banks side not the websites) but the travel agent was able to bump our cost from about 2,300 for three flights and car rental to 1,600 by adding a night stay in a hotel near the airport (which we didn't end up using). I would have NEVER thought that adding a hotel would save us that much money so it may be worth calling a travel agent to see if they can get you the best deal.