My PhD in WAGR/11p Deletion Syndrome

I didn't actually apply to the College of Letters and Science for the WAGR/11p Deletion program, but was recruited.  Apparently my stubbornness, curiosity in all subjects, and enthusiasm to use my communication skills made me a qualified candidate.  Now, I find that, after only a few years of parenting a child with WAGR/11p Deletion Syndrome, I have earned the honorable degree of PhD.  Maybe there's no diploma on the wall for this degree, and I didn't get a fancy "puffy" gold trimmed regal robe, but I do have a knowledge of WAGR that comes from experience and listening to others who have gone through it.  I also know that my education will continue; (apparently one needs to keep up to date on all the exciting developments as they arise.)

For WEGO Health's National Health Blog Post Month's 23rd day of blogging, I'm supposed to write about the times when I have "taught the teachers."  In other words, when have I been the one to help the doctors, therapists, and teachers learn more about WAGR than they did before meeting us?

There have been many opportunities to educate other doctors.  Typically, it hasn't been OUR doctors, but the ones we would meet when we'd be in the ER for an unplanned visit.  Actually, those trips became quite intolerable because we felt like a three ring circus.  We'd go in because Evie would have a fever and be lethargic, or she be having trouble breathing and we'd find out she developed pneumonia...but we'd be in the ER for HOURS AND HOURS because every intern-resident-med student on duty would have to come parading through our room and ask the SAME questions, and look in her eyes, and listen to her chest and ask, "Does she always look this way?"  (They would ask that because her eyes would be droopy, a condition called ptosis, and she had low muscle tone so she appeared extremely listless and floppy.)  "Yes," we would respond, "this is her typical appearance."  I actually got quite tired of the whole ordeal because we just wanted a diagnosis, a prescription, and a release to go home. 

Probably one of the most HELPFUL things I was able to teach the doctors came during Evie's chemotherapy.  One of the chemos she was on was vincristine.  Vincristine, we were told, was a "nicer" chemo, with fewer side effects.  However, what our doctors did not know was that patients with WAGR demonstrate a more dramatic response to the vincristine; meaning, whatever potential side effects there are, are much more likely to occur, and to a much greater degree, than with a "typical" patient. 

Fortunately, our BRILLIANT Gorilla Moms on our support group list-serve told me about this.  Since there was no real statistically significant data out there on WAGR and the vincristine side effects, we looked to the data regarding Down Syndrome and the increased toxicity vincristine had on patients with DS.  After I informed our doctors about this, there were actually a few doses of vincristine that our oncologist reduced the quantity, or even withheld treatment for a week until Evie's side effects were reduced.  Side effects would include:  soars in the throat down into the stomach, cramping in the legs, neuropathy (less sensation in extremities, like feet and hands), and constipation.  Evie typically had so much pain in her jaw that she had a hard time eating, or drinking from her bottle.  We had her on oral morphine in order to make sure she would drink enough fluids to stay hydrated. 

Another example of when we were able to give our doctors "inside secrets", was talking to our cardiologist about a procedure that Evie will have next summer.  I love our cardiologist because he is so open to getting feedback from me and listening to what I know rather than just determining what he would "typically" do for Evie's heart condition.  He said, "Is there anything I should know about WAGR and how a surgical procedure might affect her?"  I said, "Well, it's been determined through the study at the NIH that patients with WAGR are more at risk for developing pancreatitis after being under anesthesia."  "Really?"  He replied, "See, that's something I wouldn't have known.  Thank you for telling me that!"

Other things that people on the "outside" might not know include:

• A lot of people with WAGR have sensory issues; they often benefit from occupational therapy
• Many have hypertonia or hypotonia (increased muscle tone and under-developed muscle tone); they often benefit from physical therapy
• Kids with WAGR will have trouble developing speech skills and may have conditions like speech apraxia; they will benefit from speech therapy
• Patients with WAGR have an increased risk for obesity, and it is strongly associated with a deleted gene called the BDNF gene
• Patients with WAGR have an increased risk of kidney failure, so a "kidney-sparing" diet is good and they should stay away from ibuprofen to treat fevers and pain
• Some patients with WAGR have no, or, an under-developed pineal gland, and that is the gland that produces melatonin in our bodies; melatonin helps create regular sleep patterns in us; so many of our kids take oral melatonin in order to help them sleep

One final thing that people don't often have to be told, but they will quickly come to realize for themselves is that our loved ones with WAGR are incredible blessings.  I don't know how God does it, but he gives these kids to amazing families; places them right where they need to be; and then he makes them radiate life and joy to those around them.  People with WAGR have infectious laughter, profound insight, and inspiring determination.  

As Sarah Groves wrote in her song "Painting Pictures of Egypt," The places that used to fit me, cannot hold the things I've learned, and those roads were closed off to me while my back was turned.  That's such a good description of my life.  As much as I'd love to see those simpler times in my past; times before I knew some of the heartaches that I know now, I also recognize that I can't go back to life before WAGR.  I am a better, stronger, more compassionate, more faithful person than I used to be...I could never fit back into that my old life; and I wouldn't want to; not for all the riches in the world. 

My education will undoubtedly continue, and hopefully my insatiable curiosity will hold out as well.  I'm sure once I reach those pearly gates and hear Pomp and Circumstance playing as I walk the golden pathways in heaven, I'll be more than happy to toss my mortar board high in the air and know that my days of studying and learning are over.  But, for now, I'll happily teach some courses, and take some courses, and keep myself busy until that time comes. 

Behold, my Favorite Blogs

The credit can be given to Twitter...once I figured out how to use it.  :)  I could search #raredisease, or #faith, or just take a peak at the Snappin' Ministries=Disability Ministry list, and I found myself overwhelmed by wonderful blogs written by extraordinary people.  These people blog about rare diseases, and even common ones, and how faith gets them through each day.   Today, for WEGO Health's Favorite Fridays, I have been assigned the task of telling you about my top three favorite blogs.

First, I have found www.comfortinthemidstofchaos.com to be a wonderful read.  This blog is "a daily devotional especially intended to offer compassion to other challenged parents of kids with special needs."  Published by Snappin' Ministries, this blog incorporates scripture, personal narrative, and prayer into the posts.  I find it a comforting reminder (suitable to the name) that God is with us, and that I can find his support all around me. 

Following Snappin' Ministries led me to another of my favorite blogs: 
www.surprisingtreasures.com .   Another blog of scripture, prayer and narrative; I just can't get enough of reading about other moms who turn to God for their strength, and try to honor Him in their words and actions.  While there are people who say they find ME inspiring, it's a joy for me to be able to drink from a fresh fountain so that I can renew my spirit as well.  God put us on earth together, so we might as well encourage one another while we're here!  The evolution of the BLOG is evidence of how we can become evangelists around the world; not just within our own local community. 

A third blog I follow is www.losjohnson.blogspot.com .  I actually found this blog while searching the internet for information on Koolen-de Vries Syndrome after my friend's daughter was diagnosed with it.  This family actually knows the same kind of "uncertainty" that my family does by having a child with a "RARER than RARE" syndrome.  The Johnsons are beautiful, fun-loving, and inspiring.  Again, God does not put us out there and ask us to find our strength on our own...he provides avenues by which we can find strength.  Reading about another rare disorder reminds me that WAGR families aren't the only ones who find themselves in the position of having to "know more" than the doctors, therapists, and teachers combined.  We can gracefully help educate those who may not know as much, and with each person we tell, they will tell others. 

I have found other wonderful blogs by participating in National Health Blog Post Month.  ( #NHBPM)  I'm so thankful that WEGO Health did this, and that I now know friends like Jessica Gimeno ( www.jessicagimeno.com ) and Rhiann Johns (www.brainlesionandme.com ) and Kam ( www.missempowered.blogspot.com ) .  What a gift. 

I know not everyone likes to sit and read blogs, but for me it is better than checking out a book from the library.  I feel refreshed, renewed, and revived by seeing the spirit of others living with various health conditions, as well as reading about other parents of children with conditions similar to our daughter's.  Someday, I look forward to finally meeting all these souls in heaven where we can party for eternity freed from our broken bodies of this earth. 

For while we are in this tent, we groan and are burdened, because we do not wish to be unclothed but to be clothed instead with our heavenly dwelling, so that what is mortal may be swallowed up by life.
1 Corinthians 5:4

Mind-Games~How to Finish the Race

On this 21st day of November, my assignment for National Health Blog Post Month from WEGO Health is to write about the mental effects of the illness that we live with every day.  I could talk about Evie's anxiety, because that is pretty off the charts, and quite typical of WAGR/11p Deletion Syndrome.  I could talk about how so much medical intervention at such a young age can affect the self-esteem of a child as she grows older.  I think, however, it's more important for me to talk honestly about something I, as a mother,  experienced when Evie was being treated for cancer. 

About 2 months into Evie's chemotherapy I had a panic attack in a movie theater.  I had been experiencing migraines on a daily basis and had medication to take that would help minimize the pain.  Unfortunately, the medication I took had a high quantity of caffeine in it, and I had compounded that by drinking coffee, diet soda, and eating some chocolate covered coffee beans.  I had created the perfect storm.  It was the preview for the movie Cars that created the intense feeling inside me of insecurity and danger.  My heart started racing, I felt a tremendous pressure on my chest like a big weight was pressing against it.  I just wanted to be in a bed, safe, with someone taking care of me.

I made it through the preview of Cars, but then the movie we were there to see started.  It was Narnia.  In the opening scenes there were helicopters flying in the dark of night, dropping bombs.  I felt the panic rising within me with each bomb that exploded; as if the deep-bass rumble of the explosions had its impact deep inside of me.

I leaned over to my sister and said, "I don't feel safe.  I want to jump out of my skin."   She took me outside of the theater.  We sat in the hall and she tried to calm me down.  I remember saying, "I need someone here.  I need someone to keep me safe."  Eventually, when we realized my feelings weren't passing, my sister went back in the theater and found my friends who we had left in there.  I used my cell phone to contact an on-call nurse from my clinic.

The nurse asked me what had led up to the attack.  I explained about my migraines and the medication.  We talked about the fact that I was likely dehydrated as well as over-caffeinated.  She recommended I speak with  my doctor about switching medications, and then asked, "Is there anything else going on that may have caused your anxiety?"  I said, "Oh, well, my daughter has cancer...."  I maybe even said it more like a question, as if I wasn't really sure that it was a legitimate answer. 

"Are you seeing a counselor?" she asked.

"I'm working 30 hours a week, and my daughter has cancer.  I don't have time to see a counselor, let alone squeeze in a doctor's appointment for myself." I replied.

"I think you need to.  At least you can talk to someone about your feelings, and they won't be involved in anything, and you won't feel like you're letting them down."

Truth.  That was truth.  I didn't want to admit that I needed counseling.  No one else was getting counseling.  Everyone else was handling Evie's sickness just fine.

I called and got an appointment to see a counselor.  Some of the appointments I went to didn't feel all too monumental to me, but others brought me some peace through just knowing I could talk about my fears and frustrations and not feel like I wasn't meeting others' expectations. 

The appointment that helped the most, however, came close to the end of Evie's treatment.  I said to my counselor, "Is is weird that I'm scared for Evie to finish chemo?  Does that make me one of those moms who wants her kid to be sick so she gets attention?  I'm just scared.  Why am I so scared for this nightmare to end?" 

My counselor gave me such a reassuring answer.  She told me that I wasn't weird.  The feelings I was experiencing are actually quite normal for patients and caregivers as treatment is coming to an end.  The reason for this is surprisingly simple to understand:  We were told our daughter had cancer and since that day we have been "doing" something about it.  The chemotherapy was giving us a bit of a reassurance that we were fighting the disease with all that we had.   The chemotherapy was a sort of security for us that we weren't going to find new cancer growing in Evie~at least not while the chemo was there.  But once treatment ended, we would have to sit, and wait.  We were going to be waiting for the next scan, the next "all clear", the next confirmation that cancer had not returned. 

What a relief it was to realize that there was a reason for my feelings.  This was an area that had plagued me for weeks.  Why wasn't my faith in God enough to get me to feel comfortable with where we were in our journey?  Almost to the end of the race, and I was feeling terrified to cross the finish line.  It hadn't made sense to me, but my counselor helped me turn that around. 

What I really wanted to express is that going into therapy or seeking wise counsel is not a sign of weak character nor weak faith.  It's a decision to look to another party who is not as close to one's situation and can help an individual rationally understand some of the feelings that she is experiencing.  I want people to know that even all the courage and faith in the world may not be able to slow a brain down so the body can take a breath and look at one area of life at a time.  Our minds seem to run further and faster than our bodies could ever carry us, so we often need  a voice of reason to keep it in line with the reality in which we live. 

My mind is often my own worst enemy. I have to utilize all my resources to keep it on the right race track, and focused on the finish line. 

I Still Remember...

I have moments in my life that are like snapshots; pictures frozen in time...

I still remember day two of Evie's life.  Day one had been filled with joyful phone calls to family and friends, (no Facebook at that time), sleep-deprived hours of trying to learn to nurse, and watching Tommy Boy.  Day two was filled with visitors, and gifts and more joyful phone calls.  On the night of that second day, I recall one specific moment above all others.  I was laying on my right side in the hospital bed.  Evie was cradled next to me, swaddled in a pink receiving blanket, with a knit baby cap on her head.  Her eyes were closed, and the room was bathed in the soft gold light of the Christmas lights hanging above my bed.  (The midwives called them "Birthing Lights.")  Evie had a baby smell that I can only describe as pepper.  Maybe that's why I go looking for fragrances now that include pepper in them.  I loved the way she smelled.  I laid there, looking at her perfectly serene face.  I felt as though God was telling me never to forget that moment.  I recall telling myself to take a mental picture of that moment, so I did.  The next day, day three, was the day we were told that something was wrong with Evie's eyes; and that began our journey toward the diagnosis of WAGR/11p Deletion Syndrome.  So, in a sense, that mental picture was the last moment that I recall having a "happy homecoming" with our newborn baby.

I still remember the ride home from hospital and wondering how or WHAT we were going to tell people.  Neither Jeff nor I understood all that we had been told.  It was confusing, frightening, and felt like a nightmare.  When we walked in the house our phone rang and it was my friend Kathryn.  This was a total "God-incidence" because Kathryn was a kidney transplant survivor, and part of what I recalled hearing at the hospital was that something would be wrong with Evie's kidneys.  I broke down in tears upon hearing her voice.  "Hey, Sugar" she had said in her sweet southern accent, "you made it home."  I spilled out to her my fears and frustrations and gave her a whole load of something she wasn't expecting.  Kathryn became a voice of reason, faith, and acceptance for me as we worked through everything with Evie.  I miss her so much because she's home now with her Heavenly Father.  I know she's with us in spirit though.

I still remember the day we got Evie's WAGR diagnosis.  Her blood had been drawn when she was three days old, but it had to be sent to Baylor University in Texas to run the actual test that would confirm WAGR (FISH analysis, it's called). When Evie was about four weeks old, we were at the clinic for her well-check.  Dr. L said he had gotten the results and read us the letter confirming that she had a deletion of the 11p chromosome, including the PAX 6 and WT 1 gene, thus confirming WAGR. We felt defeated.  Dr. L handed us some information he had found on the internet for a website www.wagr.org .  I didn't visit the website, nor did I join the support group until a couple of months later.  When I finally did though, our lives became rich with our WAGR family, and we had more support, knowledge, and creative solutions than I ever thought possible. 

I still remember being in the hospital on a Friday morning in September 2005.  Evie had been diagnosed with Wilms Tumor, and we were waiting for them to come and take her to remove her kidney.  I remember Jeff being dressed in a gown and cap so he could go with Evie and the doctors until she fell asleep.  I remember us walking with the large metal crib down the hall and Dr. K stopping us.  He said, "Hold on, let's go back to the room."  That's when he told us that he (our urologist) and Dr. P (our oncologist) were not in agreement on how to proceed.  Dr. K wanted to remove the kidney.  Dr. P wanted to contact Dr. D, who had seen several other WAGR patients with Wilms.  Dr. D was up in Vancouver at a Children's Oncology Group meeting, however, so she wouldn't be able to consult with him until next week.  We were free to go home for the weekend.  I imagined all the legions of angels, as Evie was being lifted up in prayer, I saw them all coming together and organizing the timing of the conference, her diagnosis, and the minds of the doctors~their willingness to listen and learn.  God was with us.    

I still remember chemo appointments, and the joy Evie gave all the staff with each visit.  I remember late night phone calls to the on-call doctors because we couldn't figure out if we could give Evie more morphine or not to help ease her pain.  I still remember the Baby Mozart DVD that we would watch over and over again in the hospital, and now I can't listen to Mozart anymore because it takes me back to those days in an instant. 

I remember all these scary times, but I also remember the good.

I still remember Evie creating her own sign for "play music"...she made the hand sign for "play" but then swept her hand over her opposite arm as you do when signing music.  That's when I knew for sure that, while it may come later than other kids, Evie certainly would talk some day. 

I still remember Evie walking into our room for the first time in the middle of the night.  We had just started her "brushing and compression therapy" with her OT.  She had never walked to our room before in the middle of the night, she would wake up and cry in her bed until we came to her. 

I still remember the first time I realized that even low vision wouldn't stop Evie.  We had driven through the roundabout in town.  Despite being at a lower level than the windows and being legally blind, Evie new exactly when we drove by the exit one would take to get to Culver's.  She waved and said, "Bye, Culver's."  

On the Left, Me at 18 months; Right, Evie at 24 months

I still remember the first time I saw myself in Evie.  We were in the car on the way to Minnesota and she started whining.  I turned around to look at her and she had a pouty look on her face.  It was me.  It was all me.  I had never seen and "expression" on her face before, and that must have been because of the chemo side-effects.  But they were wearing off, and now I was able to really SEE Evie and her true personality.  Go figure, when my daughter looks the most like me is when she's pouting. 

I still remember all this and more...and with God's good grace, there many memories still to come.  I know the road won't always be easy; but in all these memories, the good and the bad, God was there, and he has so much more for us to do!  With that in mind, I better wrap up this walk down memory lane and start making more memories today.   

Three Pieces of Advice to Caregivers~How I, Myself, Get Through

This is kind of a landmark entry for me!  My 14th day in a row of writing.  For two weeks I have made the time to sit down and write daily; I never would have done that except for WEGO Health's National Health Blog Post Month.  Because today is Tuesday, they direct us to write a "Top Three" on some topic.  Today, I get to give my top three pieces of advice to other caregivers.

The first piece of advice I'd like to give may sound cliché, but it's 100% true:  Count your Blessings.  What I mean by that is this; it's not that you need to be more grateful, it's that, literally, negative and positive thoughts cannot rule your brain together.  I call that lying voice, the negative voice, the voice of doubt and fear; my GREEN MONSTER voice.  I picture him somewhere up there in a corner of my brain, just jabbering away about all the doubts and insecurities in my life.  He says things like:  "Tammie, things are going too smoothly, this next ultra-sound for Evie won't be clear."  and "Remember, her blood pressure's too high, that's gotta mean something's wrong with her kidney."  or "What if you have to go back to working full time and you can't be home with her on summers and after school anymore?" 

Blah, blah, blah, blah, blah...Green Monster gets my heart racing and my mind running.  I start to feel panic creep in.  When this happens, I go back into my brain, (and even sometimes write out), all of the amazing miracles that have happened along the way.  Oil and gas bills with credit on them rather than balances when Evie had cancer; the Children's Oncology Group meeting at exactly the time she was diagnosed, so her doctors could call and consult with some of the greatest minds in children's cancer ~ all meeting together; me being unable to contact Jeff the day Evie was diagnosed because he was out of cell range, but that delayed us checking into the hospital, thereby delaying her surgery long enough to find out that she wouldn't need to have her whole kidney removed.    When I focus on these things and look at the enormous "miracles" inside of them, I really can't justify feeling scared about our future.

Evie a few weeks into treatment for Wilms Tumor

My second piece of advice for caregivers is to create a lot of "logs" and to always have a notebook and pen to write things down.  Often I found that I couldn't remember the easiest thing because of sleep deprivation, and all the things jumbled in my head.  We had (and still have) so many medications, that it was hard to remember when and which ones to give to Evie.  A medication journal will help you remember that you gave the medication and at what time.  If your child has constipation problems, start charting bowel movements!  It's not glamorous, but it helps you know when you need to ramp up the miralax or lactulose.  If your child vomits after vincristine and the doctors are telling you it shouldn't make them sick; start charting when it happens.  I figured out that Evie vomited exactly 5 hours after chemo.  That helped our GP determine that it was a bowel spasm that was making her vomit, not nausea from the chemo.  We started to lube Evie up with lactulose on her chemo days and she never got sick again from vincristine.

Writing things down doesn't mean your stupid or inept, it means you are thorough, conscientious, and recognize that you're in a place where there is so much to process that you may need to write it down now and process it later.

My third, and final piece of advice for caregivers is to get into God's word everyday.  It may not mean reading the Bible or doing a Bible study (I would have never been able to do that when Evie was her sickest), but it could mean getting a good daily devotional.  One devotional I've read and always been moved by is My Utmost for His Highest by Oswald Chambers.    Uf-dah!  The passages that are highlighted,and then the reflections that Chambers applies to the passages would overwhelm me with peace and give me a chance to marvel at God's goodness in the midst of our own little "hell on earth." 

An example of this if the passage for September 30th...Evie was diagnosed with cancer around the 23rd of September, so right around the 30th she was having her surgery to place her port and begin chemotherapy.  Chambers, on September 30th write about The Commission of the Call:  "Now I rejoice in my sufferings for your sake, and in my flesh I am filling up what is lacking in Christ's afflictions for the sake of his body, that is, the church..." Colossians 1:24  This was Paul writing to the church at Colossae.  Chambers, in My Utmost, says,

"This call has nothing to do with personal sanctification, but with being made broken bread and poured-out wine.  God can never make us wine if we object to the fingers He uses to crush us with...if ever we are going to be made into wine, we will have to be crushed; you cannot drink grapes." 

 

 

Believe it or not, the thought that we were being crushed so that we could be made into wine was quite comforting to me.  I began to really understand that the pain and fear we were experiencing was only for a season, and that we were being transformed to be a little bit more like Jesus.  That's what kept me going, and continues to propel me forward today.

 

So, there you have it, the best pieces of advice I have to give to all those amazing caregivers out there who may be feeling broken hearted and defeated today.  Please know that you have a Lord, a King, a High Priest, who has experienced pain, suffered death, and conquered death so that we may know glory in Heaven when our time comes.  God is crazy about us, and loves us too much to leave us as the sinful, selfish creatures we can be.  We may feel crushed right now, but soon we'll be transformed just as Jesus was. 

I Cannot Tell a Lie...

WEGO Health is asking me to lie today.  I'm really good at making up lies quickly and pulling it off, but I'm not good at long-term lying.  Lies eat away at me and torment me as long as I keep them in.   So, rather than telling you some truths and lies and having you figure out which one is which about ME, I'll tell them about WAGR/11p Deletion Syndrome and you can determine which is truth and which is a lie.  I'll even send you to the website where you can find the answers.  (A.K.A. the Teacher's Edition of a textbook)

• WAGR/11p Deletion Syndrome is SO rare, that there are only a few hundred documented cases in the WORLD.  http://www.wagr.org/images/WAGR_Syndrome_Chapter_59_revised_upload_5_17_11.pdf  When you consider that "in the United States, the Rare Diseases Act of 2002 defines rare disease strictly as "any disease or condition that affects less than 200,000 persons in the United States," or about 1 in 1,500 people, then you might say WAGR/11p Deletion is "uber-rare". 

• WAGR/11p Deletion Syndrome is named for it's characteristics that manifest in people with the syndrome:
• W:  Wilms Tumor
• A:  Aniridia
• G:  Genital Abnormalities
• R:  Range of Developmental Delays  

People with WAGR show only these symptoms and don't have any other conditions to manage.  (Remember, I had to include a lie....)  http://www.wagr.org/guideforphysicians.html

• The International WAGR Syndrome Association holds an annual event called WAGR Weekend during which families with WAGR come from all around the United States, and the world, to spend a weekend together and have peace in knowing that they are not alone.  WAGR Weekend is a life changing event for many families.  http://www.wagr.org/wagrweekendevents.html

• In 2011, the IWSA announced a name change for WAGR Syndrome, and advocated calling it WAGR/11p Deletion Syndrome.  Much of the recent research has revealed that WAGR/11p Deletion involves a wider range of deletions on the 11th chromosome, so the broader name WAGR/11p Deletion more accurately depicts what is happening with the people who have it.  http://www.wagr.org/iwsanamechangenotice.html  Even more will be learned about WAGR/11p Deletion (jeepers, it was easier to type when it was just WAGR :) ) with the acceptance of the IWSA into the Global Rare Disease Registry which should launch within the next year.   "The goal of the GRDR is to create a resource of de-identified patient information from rare disease registries to help facilitate research and clinical trials; analyses of data across many disorders; and ultimately drug and therapies development for millions of rare disease patients. Long-term goals involve development of open-science principles and a sustainable resource funded and supported by private-public partnerships."  (accessed at  http://www.wagr.org/latestiwsanews.html on 11/18/2013).

You have successfully made it through my little WAGR/11p Deletion tutorial!  While I'm not going to give you a pop quiz to see if you retained the information, I will tell you that you can continue to learn more about WAGR/11p Deletion by signing up to get our monthly electronic newsletter, Mini-WINGS. 

 



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The Invisible Stigma-How to Believe in Myself as a Mother

Today's question posed by WEGO Health for National Health Blog Post Month is about stigmas that exist concerning your (or your loved one's) illness, and how we have tackled them. 

What an interesting question.  I have so many directions I can go.  Do I talk about the times when Evie was growing up and she couldn't talk, nor walk but "looked" old enough to do that?  People at the playground, in malls, and out and about would ask a probing question like, "How old is she?"  That would just open a can of worms that they weren't ready to open, because I would have to respond with an age that they were not prepared to hear.  Then we would have the uncomfortable silence of me thinking, "So...do I defend us and say, 'she has a rare genetic disorder that causes blindness, development delays and often cancer'?"  And the other person is thinking, "There must be something wrong, but how do I find out what?" 

Ultimately, I think the most difficult stigma for me to break concerning my daughter was my own stigma against myself as her mother.  I honestly felt I was a terrible mother for the first six years of her life.  I was reading books on Sensory Processing Disorder and going to conferences for parents of children who were blind and visually impaired.  I was volunteering for the International WAGR Syndrome Association (www.wagr.org) and learning from other's experiences with their kids.  Yet, I just didn't feel I was getting anywhere with my DAUGHTER. 

I realize, in retrospect, that I wasn't a bad mother, I just never had enough time with Evie to even begin to KNOW who she was.  The more time I spend with her, the more I learn "what makes her tick," wow...I just fall in love with my role as mother over and over again; and I fall in love with Evie over and over again.   

So, really, what I've learned in these past few years since I've been blessed with summers off work with Evie, and afternoon walks home from school together is that I had created a stigma against myself.  I, and I alone, was judging myself and holding myself in a confining box of "failing mother."  Just because a mother can't stop her child's different behaviors or doesn't understand the different behaviors doesn't mean she's a bad mother; it just means she might have a curious little creature who may take a little longer to figure out.  A good mother continues to love, and learn and try knew things.

We had a moment a few weeks back that literally had me on my knees...sort of.  I was helping Evie get her leggings on...those can be tough, you get your toes caught in the ankle of the pant leg and it's hard to shake free!  I had done that thing where you roll it up in your hands first, like women's hosiery, and then I slid it over her ankle.  I was kneeling in front of Evie and she had her arms around my neck.  I saw her tense up and she said, "Why did you DO THAT?"  I knew what she was talking about, but I wanted to respond calmly for more time to delay, "Do what?"  It had bothered her that I rolled and ruffled the pants leg...don't ask me why, but it's a sensory thing.  Evie then tightened her grip on my neck and pulled me close to her, she had her mouth next to my cheek, and I've been bit like that before, so I was scared. 

"Matching T-Shirt" Girls XOXO

I winced and pulled back a bit and stared her straight in the eyes without saying a word.  She continued to hold me, but released the tension and said, "Mommy, I'm so sorry." 

She had never said that before.  I felt tears welling in my eyes.  I said, "I know, Honey, but I was really afraid you were going to bite me."  She said, "No, no, I don't want to do that." 

Wow.  She had never said that before either.  "I know, Honey, I know you don't.  I'm so proud of you for stopping yourself.  I'm so proud of you."  I just didn't know how to express to her how MUCH that apology meant; let alone her admission that she had the urge to do something that she REALLY didn't want to do.

It breaks my heart to think of how hard that was for her.  But that is just another step in getting to know my daughter better and better.  Just another step toward making that old stigma, which exists only in my mind, disappear entirely. 

My "Not So Flattering" Moment at the Local Pharmacy

In my commitment to follow the post topics set forth by WEGO Health for National Health Blog Post Month, I MUST write today about the most embarrassing situation that my, or in my case, my daughter's health condition put me in.  Let's face it though, when you read this, you'll understand that it was I, and I alone, who put myself in this embarrassing situation.

First, I'll set the stage.  Jeff was out of town for a training in Iowa.  Evie was probably 2 or 3 years old.  I was working fulltime at a dental office in downtown Madison, about a 40 minute commute with traffic to work.  I had one of the days that Jeff was out of town off because I was scheduled to take Evie to her routine ophthalmologist check up with Dr. Struck.

So, here we go...

I got Evie ready to go to Dr. Struck's.  We had breakfast, we were dressed, and I just needed to give her the morning eye drops for her glaucoma.  I gave her the drops and she wiped her eye and started to fuss.  Evie had a speech delay, so we didn't have a lot of help when it came to determining "what was wrong" when she fussed.  I just ignored it, figuring it was typical toddler behavior. 

I got Evie into the car, opened the garage door and put the keys in the ignition.  Turned them.  Nothing...just a stubborn, hallow click.  Evie noticed something was wrong and started to get even sassier in the back seat than she had already been.  I said, "Evie, we're fine.  I'm going to call Grandma." 

I got out my cell and called Grandma Rita.  I didn't want to take Evie back in the house, because I figured it would only make her more disgruntled to be shifted from one place to another.  I explained my situation to Rita who was at work just down the road from our house.  We agreed that she'd drive over, I'd drop her back off at work, and Evie and I would take her car into Madison for the eye appointment. 

Okay, we are on the road!  Should be smooth sailing now.  But, hmmmm....Evie Jo was still playing the roll of Ms. Whiney Cranky-Pants in the back seat.  What was the deal????

After a LONG, toddler-sobbing filled ride to Madison, Evie and I arrived at Dr. Struck's.  She fussed the whole time in the waiting room.  We were taken back to the room and Dr. Struck said, "Has she been like this all the whole time?"  I was like, "Yeah, I don't what her problem is.  Our car wouldn't start so I think that threw her off."  But he noticed that she seemed to be rubbing her eye and tearing mostly from the right one...THE GOOD EYE.  Yes, the only eye that really still worked. 

Dr. Struck grabbed a bottle of drops and plopped one in Evie's eye and then shined a light on it.  There was a fluorescent yellow stain smeared across her eye.  "That is a very scraped eye, that would explain all the tears.  It must hurt a lot."  He looked at me again, "Did she have an appointment today, or is this why you came in?"  "No," I said, "This was just a regular appointment, I had no idea she scratched her eye." 

A scratched eye is bad news in a regular healthy eye.  A scratched eye is TERRIBLE news in an aniridic eye.  The aniridic eye is very immaturely constructed...it has no iris for protection.  Dr. Struck said that there would be no exam today, we would need to get an ointment to heal the eye.  We had to return to the office the next day so he could ensure the eye was healing properly otherwise we would have to try something else. 

Oh, brother. 

I gathered up my screamy-meamy Evie, now feeling remorseful that I had been so impatient with her fussiness, and we headed for home.  Since Evie was still screaming, AND I had to call work to tell them that I would not be in the next day because I had to take Evie BACK to the eye doctor to check on her scratched eye, AND because I had to pick up the ointment at the pharmacy so we could start trying to heal Evie's eye...I called my mother in law and asked her if she could possibly come to our house and stay with Evie while I tried to do all these things at once.  She said she would, so we picked her back up from work, I dropped her and Evie at our house and I went to the pharmacy to get this precious ointment which would soon restore peace, and tranquility to our lives. 

There was only one problem.  The pharmacy didn't carry that ointment, it wasn't a very commonly prescribed one.  They could order it and it would be in the following day.  Nope!  That doesn't work!  I need to have this eye HEALED by tomorrow.  "We can see if Walgreens in Verona has it."  (There was no Walgreens in Mount Horeb yet.)  Fine.  They called Verona.  Yes, Walgreens had the ointment, I could come and pick it up.

Great.  Whatever.  Now I have the loaner car, another trip to make that would take another 20 minutes at least, and a screaming child to take with me.  I remember something that I had forgotten about at our pharmacy, so I turned back around to the technician and asked, "Can I pick up her blood pressure medications I called in the other day?"  The technician goes aside to check for the prescriptions.  "Those haven't been filled because they weren't cleared through Medicaid yet." 

Steam began to escape from my ears.  My cheeks flushed. I imagine I looked like Fred Flintstone when he would get hopping mad.  "Are you KIDDING me?  I called those in days ago.  Why haven't I been called?   I have a broken car, a screaming child and ointment that I have to drive all around to find, and you can't even fill her blood pressure medication that was called in two days ago??????!!!!!!!!"

That's right.  I WAS the screaming, ranting, tyrannical lady at the pharmacy.  I was sobbing.  I was choking.  I was ready to punch a wall.  "Okay," the manager stepped in, "We can get them filled and we will bring them to your house later today."  I don't recall much else aside from this offer, which DID bring me some peace.  I turned to leave  and a lady behind me in line said, "Is there anything I can do?"  I said, "No, there's nothing anyone can do.  It's all just a mess." 

Off we go to Verona.  I picked up Evie at home and dropped Rita back at work.  Evie and I made our way back down the highway to Verona in search of the precious eye ointment; which was beginning to feel more like an epic quest for the Holy Grail than for a .3 fl.oz. tube of goo. 

I approached the pharmacy counter with my whimpering child in my arms, and likely a frazzled look of insanity on my face.  In my delusional state, I may have even sounded like a mobster as I said, "I...need...ointment...Do ya hear me, Punk?"  Well, maybe I didn't say it quite like that.  Yet...

"I'm here to pick up a prescription for Evelyn Hefty, they just called from the Mount Horeb Pharmacy." 

"Oh, we're still waiting on Medicaid to approve that."

Say what now?  "No, no, no.  That is unacceptable."  I began in my I'm-on-the-verge-of-another-breakdown voice.  "I need it now, I'm not waiting.  I've been driving around all day, with a screaming child, sent from one place to another.  My car broke down.  I can't go into work.  I NEED THAT OINTMENT NOW!" 

"But we can't release it to you until insurance approves it." 

"Give me the ointment.  Give it to me now.  I will pay the difference." (I don't need to explain to you all at this point where my mind was going.)

"We can't do that."

"Listen to me.  I will give you the MONEY.  Give ME the OINTMENT NOW!  How much is the copay after our private insurance?"

"Ten dollars."

"What?  You're putting me through this for $10?  I would give you a hundred dollars right now!!!  Give me the ointment!"

I'm pretty sure I threw the money at him.  I didn't care.  No one cared about me right now, why should I care about them?

I've blacked out on what happened after that.  I got the ointment.  We made it home.  Evie's eye healed MIRACULOUSLY...Dr. Struck was very happy with how it had healed up by the next day. 

On her left sleeve you can barely
see the little bump of the clear plastic tag hanger.
 

A couple days later I had some photos developed and saw a picture I had snapped of Evie the morning of the entire fiasco.  She had on a new shirt from Christmas that said, "Small in Size, Big in Attitude" on it.  My eyes were drawn to her shirt sleeve down by her wrist.  On it dangled, barely apparent to the naked eye, one of those plastic price tag holders that we have all cleverly figured out how to pull off with our teeth or a strong tug.  Sure enough, I had put the eye drop in Evie's eye before the appointment that fateful day, and she had a fairly natural reaction to reach up and wipe the excess fluid away with her sleeve...in the process, that darn price tag plastic hanger-thing had scratched her eye all to heck. 

So...there it is...the UGLY story of my total breakdown at the poor pharmacy staff.  Thankfully they still allow me back in, and I am forever grateful for this wonderful town accepting me and all my unpleasant, embarrassing moments.  Often I would be asked by co-workers when I worked at the dental office, "How can you be so nice to that person when she (or he) is so mean?"  I would just stare off into a distant day in my past and say, "Because I AM that person."   

Twitterpated with Twitter~Favorite Fridays

I love Twitter.  I love the challenge to use fewer words to convey full/rich content.  I love that famous people will favorite, tweet back, retweet or even *gasp* FOLLOW me!  On this favorite Friday, WEGO Health has requested that those blogging for National Health Blog Post Month talk about their 3 favorite people to follow on Twitter.  It's a tough task, but I'll try to narrow my list to fit that requirement.

First and foremost, I love to follow Snappin' Ministries .  This lady loves ministry and is an avid disability advocate.  What more could I be looking for???  I follow three of her lists as well, so I can see more things without having to follow more people.  She has a great "Cool Christians" list, "Disability Ministry" list, and "Wisconsin" list...oh, yeah, and she follows me and added me to all of those lists.  *love it* *love her*

My newest fave is Surprising Treasures.  I found her through a Snappin' Ministries list, and just had to start following her especially because I love her blog, also called Surprising Treasures!  Cindy reminds me of how I want MY attitude to be, and that helps me reset my compass for my true north everyday.

Finally, I have to just enjoy following something for the sake of following it.  It's not ministry, it's not disability; folks, this one is hockey.  I follow Andy Johnson because he does some great coverage of Wisconsin Badger Hockey.  I love his Wisconsin list which has all the past, present, and future Badgers who are on Twitter.   It's a fun way to read the shout-outs to the fans for coming out to a game, to see how former players who are now NHL players STILL follow Badger hockey and stay close to their alma mater, and to just watch them talk smack to one another. 

It's no surprise that with as much as I love Twitter, I'm not only on Twitter myself (www.twitter.com/tammiehefty) but I also manage the Twitter page for the non-profit organization, International WAGR Syndrome Association (supporting people with WAGR/11p Deletion Syndrome).  You can follow me, or the IWSA (www.twitter.com/11pdeletion), at anytime! 

Have a happy favorite Friday~and be SURE to check in tomorrow for one of my favorite entries (I had to type it in advance because I'll be at a conference on Saturday)...it's about my most embarrassing moment as a mom to a child with a rare disorder.  That TOO was a hard list to narrow down, but I'm sure I nailed it by picking the one I did.

When I Just Want to be Normal

WEGO Health's National Health Blog Post Month has gotten me thinking about and writing about things that I haven't give much time to in the past.  Today our assignment is to write about how, when, and what we reveal about the chronic illness that we, or our loved one, suffers from.

Fortunately, I was in a wonderful job as a dental office manager when I gave birth to Evie.  I'm so thankful that the leaders of the dental group knew me, knew my work ethic, and knew my heart; otherwise I don't think it would have been quite as easy to "believe" that I needed as much time off after returning from maternity leave as I did.  Evie's first year of life was filled with eye exams under anesthesia, ultra-sounds, and eye surgeries.  We were blessed with an amazing daycare provider who would allow me to bring Evie back after she had received her post-surgical check-ups; and she would fearlessly deliver the 12 + eye drops required for Evie's full recovery. 

Also, I was blessed to work with doctors who put family first.  There was a day that I had a complete mental breakdown and had to call in to work and say, "I just can't stop crying!  I don't know what to do."  I was told to stay home, rest, and allow myself some time while Evie was at daycare and I could just take care of myself.  The next day I went in to work and one of the doctors, Brad, pulled me into a meeting room and we talked about what had happened the day before.  I told him I started panicking about what our future would be.  Would Evie have autism, would she have cancer, would she have behavior issues; what was our life going to look like and how horrible of a mother was I to look at other children and to think, "Would Evie be able to do THAT if she didn't have WAGR?"

Brad then explained to me that what I was experiencing was normal.  I could actually benefit from treating myself as a person "recovering" from a traumatic experience.  He told me that I needed to recognize something; no matter how much I worried about it, I couldn't control what would happen tomorrow, let alone 5 or 10 years down the road.  Brad recommended I get the daily affirmations from Hazelden so I could remember to stay focused on "today."  The co-workers I had, that God put in my life, were no coincidence.  He surrounded me with just the right people to get me through.

Family Medical Leave Act (FMLA), the law that enables a person to take a set period of time off for a health condition without jeopardizing their job, helped cover my maternity leave.  It takes a year of working for your FMLA to renew.  It was no coincidence, I believe it was a God-incidence, that my FMLA renewed on September 14th of 2005 and Evie was diagnosed with cancer on September 22nd, just days later.  I had the law to protect me, but God to orchestrate it all.  In order to maintain our financial solvency, I had to work while Evie underwent chemo.  I worked Mondays through Wednesdays, 10 hours a day to maintain our health insurance.  My mother in law took off from her job those days so we didn't need to expose Evie to all the germs at daycare.  (Another blessing, another miracle, was that our daycare provider held Evie's spot at daycare even though we couldn't pay her for those 18 weeks.  That is a TRUE sign of God's provision.  Thank you, Doni...you will never know how much you mean to our family.)

Thursday was chemo day, and I'd take Evie to the appointments, and Friday was "the day after."  They were never easy days, and often we would end up back at the clinic because she would spike a fever and need antibiotics to treat pneumonia developing in her lungs. 

Back to the topic at hand though!  I'm so glad I didn't have to "explain" all of this to a new employer.  I think it would have been overwhelming to say the least.  So, for Evie's first 6 years of life, I never worked for anyone but those initial doctors who were with me when Evie was born.  They had faith in me, faith in God and were always so supportive of our family. 

Once Evie started getting "up there" in grades at school, it became evident that she would need more help with homework, as well as more support from her "mommy" who would observe things and try to make them right for her (like if the homework was too overwhelming).  I never really had time to take her to all the appointments she SHOULD have had either while I was working full time!  So, we ended up only do the "MUST-HAVES" like oncology, ophthalmology, and nephrology.  I left my job at the dental office and started to stay home with Evie a few summers ago.  This took some hardcore budgeting, but it was well worth it.  I started to go through all of the "recommendations" for Evie's health.  We were supposed to get her orthotics to help her walk, speech to help with her speech apraxia, and neuro-psych to help with her anxiety.  All of this was too much to handle with my full time job.  I signed on to be a substitute teacher and paraprofessional in our local school district and that became a dream come true. 

The people in the school district knew me and knew Evie.  Again, I didn't have to explain a thing!  AND, what's more, I didn't have to ask for time off as a sub, which always felt mentally draining as a manager.  To me, asking for time off was like saying, "I can't handle my job and these appointments too.  I can't fulfill both roles in my life."  For many years, Jeff took Evie to many of her appointments because at his job there was comp-time he could build up and use.  But I felt out of the loop and like an inadequate mother when I would miss all that time with Evie and her doctors. 

Who wouldn't love more time with this girl?

I'm now a permanent part-timer at the high school in town.  Evie and I are able to walk home from school together (which has diminished her behavioral issues after school that she used to have.)  The time that I have now with Evie has shown me that I CAN be a good mother to her.  I think I struggled for years feeling that I really had no relationship with her~I would be at work before she would even wake up, and would get home in time to feed her and bathe her and get her into bed.  That was no way for me, or for my family to live.  I'm glad I toughed it out at my full time job as long as I did, because I will never take this time I have with her now for granted.  I made a deal with God that if I got lazy and started to just take naps in the morning, or not use the free time for volunteering and giving back, that he could send me back to a full time job like I used to have.   Let me tell just say, I am a staying busy, but it's what works for me and for my family now. 

So, I guess it's clear to see that I haven't really felt the need to explain much to my employers.  I often feel I talk about Evie and WAGR (www.wagr.org)too much, because I think it often connects me to others.  I may meet someone who is blind, or has cancer, or is the parent of a child with sensory issues...I start talking about Evie, because it's common ground, it's a way to feel a sense of community, togetherness, unity.  I have mission to reach out to the hurting and connect with them, so how can I hold back when I know that Evie has taught us so much, and we have so much to offer others.  Educating others on rare diseases is a way to create a more universal understanding of "pain" and "recovery" from it.  Hopefully others can see it that way too, and not feel the need to hide their conditions.