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.

Patient Protection and Affordable Care Act Summary 1

It’s important for me to know what the Patient Protection and Affordable Care Act actually says. I don’t want to get my information from biased sources so I am reading it myself. Several of my friends asked if I could provide a bullet point summary of what I’ve read. I’ve included it below. Now, the disclaimer. This is what I understand as I read it. I tried to just simplify the language from the Act but there may be some things lost in translation. This is the link I used to access the Act if you would like to read it in whole or in part yourself.

http://housedocs.house.gov/energycommerce/ppacacon.pdf

I am going to post them in 40-50 page summary increments when I have the chance to read and summarize!! (Because any more than 50 pages and my head would explode!!!)

Patient Protection and Affordable Care Act (PPACA)

• No lifetime limits on the dollar value of benefits for participant/beneficiary
• Up until 2014, insurance can set limits but the Secretary shall insure that access to benefits is made available with minimal impact on premiums.
• Insurance can put a “per beneficiary” limit on covered benefits as long as they are not considered essential health benefits.
• Insurance cannot rescind benefits once a participant is on a plan unless the participant commits fraud or intentional misrepresentation. Insurance must notify participant of cancellation.
• Insurance cannot impose cost sharing on preventative services, immunizations, infant/child/adolescent/women (breast cancer, mammography) preventative care.
• Secretary shall establish the minimal interval allowed for preventative services.
• Secretary may develop guideline for Insurance to utilize value-based insurance designs.
• A child can be covered under parent’s insurance until 26 years old, but insurance is not required to provide coverage to a child of the child receiving dependent coverage.
• The Secretary shall define dependents eligible for this coverage but the definition will not modify the IRS’s definition of dependent.
• Within 12 months of the enactment of the PPACA, the Secretary in consultation with the National Association of Insurance Commissioners shall develop standards for use by group health providers and health insurance issuers.
• Summary of benefits and coverage will be presented in a standard form, no more then 4 pages long with print no smaller than 12 point font;
• language shall be appropriate and easily understandable by the average plan enrollee;
• uniform definitions of standard insurance terms and medical terms;
• description of coverage including cost sharing;
• exceptions, reductions and limitations on coverage;
• cost sharing provisions including deductible, coinsurance and co-payment obligations;
• the renewability and continuation of coverage provisions;
• a coverage facts label that would include examples to illustrate common benefits scenarios (i.e. pregnancy) and related cost sharing;
• a statement of whether the plan provides minimum coverage (defined by IRS code) and ensures the plan or coverage share of the total allowed coverage is not less than 60;
• a statement that the outline is a summary of coverage and the coverage document itself should be consulted for all details;
• a contact number for the patient to call and a website address where the coverage document can be reviewed.
• Secretary will periodically review and update the standards developed under this section
• Insurance must provide the above to patients within 24 months of the PPACA being enacted in either paper or electronic form. Modifications to above must be provided to patients at least 60 days before the modification takes effect.
• The standards developed will preempt any state standards that require less information to be provided to the patient.
• A fine of $1,000 will be charged for each failure of insurance to provide the information to its patients.
• Secretary will develop standard definitions for insurance related terms (i.e. out-of-pocket limit, preferred provider, etc.); medical terms (hospitalization, durable medical equipment, etc.); insurance not offered through an Exchange is only required to submit the required information to the Secretary and the State Insurance Commissioner and make such information available to the public.
• Insurance cannot discriminate in favor of highly compensated individuals (as defined by IRS code).
• Within 2 years of enactment of PPACA, the Secretary in consultation with experts in health care quality and stakeholders will develop reporting requirements for use by insurance.
• Improve health outcomes by care coordination, chronic disease management, etc.
• Implement activities to prevent hospital readmission through a comprehensive hospital discharge program including comprehensive discharge planning, post discharge reinforcement by appropriate health care professional, etc.
• Implement activities to improve patient safety and reduce medical errors through best clinical practices, etc.
• Implement wellness and health promotion activities.
• Insurance will submit an annual report to the Secretary and the plan enrollees explaining whether the benefits under the plan satisfied the topics above. The report should be made available to enrollees during open enrollment and to the public through a website. The secretary can impose penalties for non-compliance and can provide exemptions to reporting requirements if insurance substantially meet above goals.
• Health and wellness programs may include quitting smoking; weight management, etc. No wellness program can impinge on Second Amendment Gun Rights nor can data be collected or stored regarding lawful ownership of guns or ammunition.

Next summary to follow...

Yesterday I Lied

Yesterday, I lied. Well, not exactly lied but didn't share all the relevant information. I was told that is a lie by omission. So that is what I did.

My father-in-law, my daughter Kaylee and I were flying back home to Florida after visiting my family for the Christmas holiday and we were in the airport. As we walked to the gate, I ran into someone I had worked with many, many years ago and his wife.

They were grabbing dinner and we were going to our gate. Turns out, they were on the same flight we were so we said we would catch up later. In the brief moments that we chatted, I learned that they are expecting their first child and I told them Kaylee was going to be three at the end of the week.

Kaylee went up to the wife and said, "Come." She grabbed her hand and started to walk. They both laughed and remarked on how sweet she was. We parted ways and didn't catch up until baggage claim in Orlando.

They came over while an exhausted Kaylee was laying with her head on my lap. They ask how she was doing and this is when I pretended to be a "normal" parent with a "typical" child. I told them how Kaylee is always happy and brings smiles to the faces of everyone she meets, how she did awesome on the flight and didn't fuss or cry and how she loves to swim.

What I didn't tell them is that she has a genetic disorder, Prader-Willi Syndrome. Nor did I tell them how much work my sweet little girl had to do just to get to the point they saw her at. I didn't tell them that I live in fear of the constant hunger of PWS coming and claiming my angel.

No, I lied and pretended that we live in the "normal" world and it felt good for the time.

And when they told me she was beautiful, I knew that she was. But, she's so much more than that because of the rough road she's already traveled and the unknown road ahead that we all will travel together.

I only need to pretend to be like everyone else for a little while. It helps me and reminds me to be thankful for all Kaylee has accomplished. My mother said sometimes you have to tell a little white lie when the truth doesn't serve any good purpose and yesterday was that time.

My Boyfriend's Back

This is my first blog post. Instead of giving a background of who I am, why I'm blogging, blah blah blah, I'm going to jump right in. Sometime down the road, I'll blog about all that. But, right now, I have exciting news.

I'm happily married (exciting, but not THE exciting part!) and there are three things my husband is in charge of: trash, letting the dog out at all hours of the night and directions.

Since I do a lot of driving shuttling our daughter hither and yon, and spend most of my time behind the wheel of a car completely lost, my husband - wonderful man that he is - got me a boyfriend. It's probably because he was tired of being my own personal GPS.

My boyfriend.

His name is TomTom and I have been lost without him (pun intended), lo these many weeks. He just up and quit on me. Maybe, he gave warning. Maybe, he froze up. I don't remember. What I do remember is my daily panic attacks as soon as I get behind that wheel. Who can help me? My husband? Not if I want to get him fired for too many personal calls and turn our family into one of the homeless.

My daughter was born without a paternal chromosome 15 (more on that later). I was born without a sense of direction. I have other talents. I promise I do. But directions, nope. That file got lost somewhere in the transfer.

I have been diligently scouring the boards, help sections and anything that Google spit out about "TomTom not working", "TomTom not turning on", or "Desperate directionally-challenged woman needs to fix her TomTom ASAP". And until tonight, no luck.

I was even thinking of cheating on him with another man (besides my husband that is) - Verizon Navigator. But, I couldn't bring myself to do it. Seeing how my hands started to shake and I was going through withdrawals, my husband asked if I had the original box and manual. Of course I did!

But, how the heck did he ever come up with that? Isn't that almost like asking for directions? I've never actually ever witnessed a man do that. I thought it was an urban myth and checked it out on Snopes.

Lo and behold. There was a diagram showing me where this elusive "reset" button I had been reading about was located. I didn't believe my TomTom had one. There, I admitted it.

But, in my defense, the manufacturer had placed a label cheerily declaring "Maps of US and Canada now preloaded on internal memory! No SD card required." Seriously, they used an exclamation point. They were pretty darn excited about the poor SD card being out of work.

Next to that sad empty SD slot was a teeny, tiny hole with the teeny, tiny word "Reset". (Cue choir of angels!) I inserted the end of a paper clip and VOILA!! I heard the TomTom drums. It's one of the sweetest sounds I've ever heard.

Just in the nick of time too. Soon, I have to figure out how to get to Union Park from Winter Garden. And in October, I have to find out how to get to this place called Monte Verde. Doesn't Monte Verde mean "green mountain"? I think they are pulling my leg. We're in Florida. Flat flat FLAT Florida.

It doesn't matter. I'll ask my boyfriend. He'll tell me the truth. AND he'll tell me how to get there ... now that he's back!!