Today is World Rare Disease Day. Why is this significant? According to the Global Genes Project, there are approximately 7,000 known rare diseases, 80 percent of which are genetic, half affecting children. As many as 30 million Americans, or one in 10, has been diagnosed with a rare disease, and a whopping 95 percent of those have no FDA-approved drug treatment. Only 15 percent of rare diseases have organizations or foundations providing support or doing research, making today an awareness day of particular importance.
Thursday, February 28, 2013
Monday, December 3, 2012
On September 19, 2012, Senators Johnny Isakson and Senator John Kerry submitted a resolution designating December 3rd, 2012 as National PKU Awareness Day. Thanks to organizations like the National PKU Alliance (NPKUA) and PKU advocates like Kevin Alexander, our voices are being heard in D.C.
While this may sound odd, I find it an exciting time to have a child with PKU! Although PKU is rare, the PKU community is a very involved and active one. This is due in large part to social media, which allows parents, patients and those who care for them to be in touch, no matter our location. The sense of community I witness nearly everyday on Facebook groups and websites like Cook For Love and NPKUA lift me up when I’m feeling down about Lucy’s condition.
For my part, I am Facebooking, Tweeting and emailing my network to ask them to take a few minutes to read my blog post about the day we found out about Lucy’s PKU, and/or to watch PKU advocate Kevin Alexander’s powerful video called, “My PKU Life.” I hope that increasing awareness for this disorder will help others see that Lucy’s medical formula and medical food are absolutely critical to her diet and should therefore be covered by insurance; and show the importance of newborn screening to detect these and other disorders before they do lifelong damage to newborns.
Please join me by liking, tweeting and sharing my blog and Kevin’s video to your network. Lucy and I thank you!!
Thursday, November 8, 2012
The last two weeks have been ridiculous! Not that I'm a fan of country music, but my life sure has felt like a bad country song lately.
“I woke up this morning, and the babies were cryin’
Husband still gone away, for business he’s flyin’
Dog and cat seemed sick, found out the dog’s dyin’
Oh, whoa, and I’m so very hungry and tired!”
That’s right, things have been ugly around here. Here’s a bulleted list, otherwise this post will be four pages long.
- The hubby is out of town for business 12 out of 14 days
- Took cat to the vet since he was peeing on the living room rug, incidentally the only baby-free zone
- Cat is in beginning stages of renal failure, requiring a special low-protein diet
- Other cat is not in renal failure, so needs food with protein (sound familiar?)
- Took dog to vet, she has a rare form of lung cancer and only a few weeks to a few months left :(
- Hubby is out of town
- Babies are ever more mobile and difficult to wrangle, especially during bath time
- Hubby is out of town
- Mealtime with nine-month old twins takes an hour to an hour and fifteen minutes (calculate Phe, weigh low-protein food, chop low-protein food, dole out higher-protein food, chop higher-protein food, watch food doesn't get shared or thrown to floor, or blown away via a raspberry, force feed low-protein food to make daily Phe requirement...)
- Which is followed by special diet for the cats and dog, who needs medicine, too
- Which is followed by a very hungry mama, who’s too tired to cook (but hooray for cereal, canned soup and frozen meals!)
"Rough as it’s been, we’re survivin'
The babies and I, will keep on tryin'
The animals, well, you take what you get,
Oh, whoa, gonna make it work, or die tryin'!"
Thursday, November 1, 2012
Oh, do I LOVE Halloween! Before the girls, I loved dressing myself up and attending fun parties with friends. I always knew if I had children, it would become one of our family’s favorite holidays!
I decided to dress the girls as a lamb and a piglet. You guessed it, Lily, aka the garbage disposal, was the piglet. As predicted, they both cried their hearts out when I put them into their getups. But did I feel bad about it? Absolutely not, it made me downright giggly and giddy. Is there anything better than exploiting the cuteness of your babies?!
|Me, Melanie and Missy with Lily the piglet and Lucy the lamb!|
My family asked if Lucy’s PKU means she can’t have Halloween candy. Luckily, she’ll be able to have the non-chocolate candies, though I’m not sure this is necessarily a good thing. ;-) But at least she can participate in the time-honored tradition of trick or treating!
Monday, October 22, 2012
|Our PKU girls (from left to right) - Breeze, Lucy and Abigail!|
I took the girls on my first solo field trip today - we went to the zoo! Better yet, we met up with two babies with PKU. Breeze and Abigail (who has a two-year old brother without PKU) both turned one-year-old recently.
I have to admit, I was nervous about going on my own! We were heading there right after our weekly hospital visit, meaning only a brief car ride nap, and I knew they’d need their solids once we arrived. With several days’ worth of orchestrating the logistics in my head, I decided to keep them sitting up in their stroller and while one baby was looking around, I fed the other. Mommy survived the feeding intact, however the stroller didn’t fare so well. That thing needs a steam wash!
|Lucy crashed out!|
It was such fun to hang out with fellow PKU moms Margueritte and Emele and learn tips from them on finger foods and transitioning to a sippy cup. I feel like they are my mentors, even though their daughters are less than six months older than my girls! It occurred to us that we are going to be part of each other’s lives for a long time to come. Our girls will attend group clinics together starting when they’re three. It was very humbling for me to realize how lucky I am to have such a close-knit, supportive PKU community here in Denver! It makes the highs and lows of treating Lucy’s PKU so much easier knowing other moms are sharing the same experience.
|Lily also crashed out!|
Wednesday, October 10, 2012
|The ubiquitous Chinese symbol yin-yang|
We learned at just 11 days old that Lucy had PKU, requiring us to give her a special PKU formula that is stripped of Phe but contains the remaining protein-based amino acids critical to her development. Though I was extremely sad I had to temporarily stop nursing her to get her Phe levels out of the danger zone, I was able to start again a couple weeks later. We quickly adjusted to a combination of nursing and formula-based bottles, and feeding time was easy.
Fast forward to today. We started the girls on solids at about five and half months old, and they've adjusted well. In fact, Lily is my piglet! She eats anything and everything, and in very large quantities! Lucy, who has a limited diet requiring me to weigh her food in order to calculate the Phe in each item, has been less interested in eating overall, though that is quickly changing.
However, I've been struggling. It is VERY hard to give Lily such a huge variety - jars of every fruit and vegetable imaginable, combined with meat, veggie and grain combos and now, finger foods including puffs, Cheerios, and pieces of soft fruit like pears, peaches and melons. It breaks my heart to give her more of what she likes, while right next to her, Lucy "only" gets her measured amount. She is also starting to notice what's on her sister's tray, and even reached over last night to steal a Cheerio!
I "sneak" her bits of the fruit that I'm giving Lily, but have to be careful as I'm not yet including it in her daily Phe calculations. I know my feelings have nothing to do with Lucy - she loves her more-limited selection of fruits, veggies, and even rice puffs (which I do count). I don't know if it's having twins who are the same age and development level sitting side-by-side, but mealtimes have been making me feel sad lately. I am very careful to keep an upbeat attitude around the girls though, because we must never make Lucy feel she is "different" or that her diet is something to be sad about, but it's hard for me right now, nonetheless.
Lucy, eating rice cereal and fruit puree.
|Lily, looking like she has badger stripes on her nose from prune and oatmeal cereal!|
Saturday, October 6, 2012
|Thank you for the work you do to spread awareness about PKU, Kevin!|
When I met Margueritte, fellow PKU mom of one-year old baby girl Abigail, she turned me on to a video by U.S.-based videographer and PKU patient and advocate Kevin Alexander. He explains much better than I can what PKU is and what it means to have it. His inspirational video makes me cry every time I see it. In fact, I watch it whenever I'm feeling down about Lucy's diagnosis because it makes me feel hopeful again. Enjoy, and feel free to share it!