Saturday, April 25, 2015

Be Careful of What You Wish For

Those of you who know me know that for the past year (almost two) I have had a singular focus of getting our daughter, who has Prader-Willi Syndrome, into the Oxytocin drug trial once it was started here in the States.

I have been following the results of other Oxytocin trials and the reported excellent results for people with PWS. PWS is a rare genetic disorder that begins with a failure to thrive at birth,  moves to gaining weight without change in diet and an insatiable hunger. It can lead to morbid obesity, diabetes and death if food intake is not constantly controlled and monitored.

Oxytocin is a hormone that is created in the brain that gives a feeling of well-being, assists in hunger regulation and social interactions. It is called the "happy" drug. But, what had been found in previous studies is that it assisted people with PWS to interact with others, calm repetitive speech/behaviors and help with the never-ending hunger drive. The Oxytocin drug is administered in a nasal spray.

I haunted her specialist, Dr. Jennifer Miller, an incredible doctor and an incredible person, for when the study would begin. When she told me who the research coordinator was, I respectfully haunted her too.

Finally, on my birthday, I was granted the wish that I had been holding in my heart for over a year. Kaylee was accepted into the study! To say this was the best birthday I have ever had would be an understatement.

It required two seven day commutes (Sunday - Saturday) from Orlando to Gainesville. The study is a crossover design, meaning one week the participant will receive either placebo or drug, the following week, they will receive whichever they didn't receive in the first week. Each participant is guaranteed to receive the drug. There is a two to four week break between the two trial weeks.

I couldn't have been happier! Even a four hour round trip commute and getting up at the butt crack of dawn could dampen my enthusiasm. Why the four hour commute? Since we would only be spending approximately 2 hours at the research center every day, it wouldn't really make sense to stay in a hotel. Also, those with PWS have difficulty with changes in routine. (PWS families reading this will know what an understatement this is.) By commuting, our daughter could be home with her things and I wouldn't have to guess which object she would obsess about, that I did not pack.

I even got my wish of her getting the placebo in the first week. Because, let's face it, after a week of driving when it's still dark outside, I don't know if I would have found the strength to do it the next trial week for saline!

Last week, Kaylee received the drug for the first time on Monday. Although we didn't notice an immediate difference that day, when I clipped her into her car seat, I thought her eyes looked clearer. Perhaps it was wishful thinking, perhaps it was a mother's wish but I felt like she started to be different.

For the first time in as long as I can remember, she skipped her morning snack. For a typical child, this is not earth-shattering. For a child with PWS, it rocks your world. She skipped her morning snack EVERY DAY that she received the medicine.

Each day built on the previous day's success. She responded quicker. A nurse greeting her with a "Hello," received an immediate response of "Good morning!". She followed directions faster. What would usually take 3 or 4 requests, were now done promptly. Her visual perception increased. If we said, "Look at the cows." as we drove past, she would immediately turn her head. Previously, we would be down the road before she would look.

Her eye contact was better. When my husband came home from work, she would look at him and greet him. Typically he would have to go right up to her and tickle her or hug her to get her attention. She showed an interest in peers. She looked at another little girl in the study as they both spelled the name of our dog. She saw another patient reading a book and with a big smile walked over to her carrying a book to show. THIS HAS NEVER HAPPENED BEFORE.

Her day no longer revolved around when she was going to get her next meal. You could set a clock by Kaylee's snack/meal times because she would come up to you to let you know it was time for food. Her anxiety that manifested itself in incessant repetitive speech diminished. Instead of five minutes of, "Good bye Dr. Miller!" when we left. It was two or three times.

Her need to have specific objects in her possession lessened. Forgetting her red tassel on Wednesday would have led to a full blown meltdown. Instead, she asked for it throughout the visit but was able to be redirected.

To see our baby, our beautiful girl to experience life without the burden of anxiety, to see her interact with peers, to see her being able to focus, to unlock her potential is like no feeling in the world. When telling others about our experience, I said, "It's a bunch of little things." And my husband corrected me and said, "It's a bunch of BIG things." And it was.

Our stress level for the week, even taking into account the commute dealing with crazy drivers, was the lowest it had been before her birth. We had a sense of peace and contentment.

I had accomplished my goal.

What I didn't take into account was how we would feel when the trial was over. And how we would not be able to get this miracle drug - that had changed our child and our lives for the better - for an unknown amount of time.

It is available in Europe but the US company that owns the rights to the medicine in the states doesn't want to manufacture or market it.

I struggle and cry. Every day of her life is precious and now that we know that there is a drug that can vastly improve her life and we can't provide it to her tears me apart. I'm over the moon that the medicine works for her. Dr. Miller has promised we will get her the medicine "soon". But soon to me is tomorrow and that's not going to happen.

There will be a dosing study with hope, in six months to a year.

There is tremendous joy in knowing that the medicine helps Kaylee and there were no side effects. We're thrilled to add to the collective knowledge that will help other people with PWS and their families. But to know there is something that will improve her quality of life and not to be able to provide it to her now just weighs on my heart and mind.

When Kaylee received her last dose of medicine, she said, "Again?"

I hope so baby and I hope it's soon.