When You Know More than the Doctor

After my last post, I decided that I needed to finally do something more to take charge of my children’s medical situation.  I had been thinking about doing this for a really long time, but just never to around to making the appointment.

I was able to snag an appointment with a geneticist at a big city hospital in NYC.  I had such high hopes, although I really wasn’t sure what to expect.  I think I was expecting for the geneticist to connect the dots on most, if not all the different diagnoses.  I was looking for that AHA! moment; the smoking gun; the secret that would unlock the reasons why my kid’s medical charts at our pediatrician’s office are the size of the unabridged version of War and Peace.

Alas, the answers remain elusive.

After describing my daughter’s condition, the geneticist flat out told me “You know everything that you need to know about your daughter’s condition.  There is no test that will tell you more than what you already know.”

In the end, it turned out that what I know about Klippel-Trenaunay Syndrome is more than the geneticist knew.  I ended up providing her with more data and current research than she had known about.  So I am waiting for her to review the data and get back to me.

Very recently, there was an amazing “accidental” discovery that begs further investigation.  In short, mice were injected with the PIK3CA gene.  This gene is known to be responsible for causing certain cancers.  I am not sure what they were looking to accomplish, but the accidental finding was that the mice began forming venous malformations*.  The really special part of this research was that once anti-cancer drugs were administered, the malformations were successfully treated.  I am not a doctor, I don’t exactly understand how the malformations were successfully treated, but it sure is an interesting concept.

*Venous malformations are a very large part of what makes up Klippel-Trenaunay Syndrome.

Again, I must put out this disclaimer: I am not a medical professional.  I am a very worried mom who has the capacity to learn and retain too much information, more than what is for my own good.

I am worried because, on the flip side of this gene, I am very concerned that a gene that is known to cause cancer can potentially also be responsible for causing venous malformations.  This information is a bit unsettling to me.  Does this mean that if you have venous malformations, and you test positive for having the PIK3CA gene, should you also be on the lookout for cancer in your future?  In my case, should I be more worried about my daughter’s future?

The geneticist could not answer my questions, nor could she allay my fears.  She did say that she thought that I didn’t have much to worry about.  But I am a mom.  I will always worry.

Much later on, the discussion finally shifted to my son and his newly acquired set of diagnoses.  Now the geneticist was able to flaunt her stuff.  She is very interested in what he has been going through.  So we will make a return visit to her for additional testing.

In a generous way, the geneticist wanted to offer me resources for my daughter’s condition.  She logged into her secret network of medical websites that are locked away from the general public.  She started looking up treatment options for Klippel-Trenaunay Syndrome.  Her first search yielded the name of a highly regarded physician who is on the cutting edge of treating KTS.  I said “Thank you, I am very familiar with this physician, he is my daughter’s surgeon.”  The second search yielded a picture of my daughter’s hematologist.

She sat back in chair, gave a great big sigh and said, “I am sorry, but as I said at the start of our conversation, you know everything you need to know about your daughter’s condition.  You are already being treated by a leading expert in this field.  I am sorry, but I cannot help you.”

Back to the drawing board!

Reliving the Nightmare

During these last 4 months, the amount of hours I have spent hanging around waiting rooms in hospitals and doctor’s offices is staggering.

Since November 2015, I have taken my children to over 31 doctors appointments.  Thirty One.  31.  So far…I can think of at least 5 more upcoming appointments in the next few weeks.

  • My daughter has endured lying in a MRI machine for 2-3 hours at a stretch on 3 separate occasions so that 6 parts of her body could be imaged.
  • She has undergone 2 surgical procedures since November, and I just scheduled her next surgery for next month.
  • My son has acquired 6 new diagnosis’s since last June. SIX.
    • Sensorineural Hearing Loss
    • Osteochondritis Dissecans of the Knee
    • Fractured Wrist
    • Tinnitus
    • Scoliosis
    • Abnormality of the Retina (still investigating)
  • We have acquired more medical equipment as well.

I have spent countless hours traveling to and from these appointments, anxiously waiting for results and outcomes.  I have met new people in our journey and have revisited old doctors and friends.

As I was running to yet another appointment I bumped into someone I hadn’t seen in a really long time.  She is someone whom I would rather have not run into.  I would be happy if I never saw her ever again.  In this lifetime, or the next.

She is a very sad woman.  She is a woman who is easily overwhelmed; she overthinks and over analyzes everything; she doesn’t laugh very often.  She looks like she doesn’t get enough sleep and doesn’t take time to care about her appearance.

I saw her and tried to avoid her gaze, but it was too late.  I was marveling at how much older she looked.  She now had gray hair sprouting at her temples.  She had more lines on her forehead, I am guessing from furrowing her eyebrows.  She had bags under her eyes, you can tell that she has been crying a lot.

We stared at each other for a long moment and I said “I remember you. And I remember how much I don’t like you.”

In the dark corner of my mind I heard her reply, “It’s not me that you don’t like.  You are back where you started and it’s turning you back into me.”

And then I washed my hands and exited the bathroom.

As I sat in the waiting room waiting for my son’s name to be called, I couldn’t stop thinking about her.  About me.  How can this happen to me again?  I thought they outgrew all this prematurity stuff.

Thirteen years ago, I gave birth to premature twins.  31 week survivors.  And while we have our share of medical setbacks, I knew that we got off relatively easy.  We were ‘lucky’.

We were spared any serious neurological damage or delays.  Milestones were met, maybe a month or two behind at times, but nothing substantial.  Here they are today, standing beautiful and handsome at 13 years old.  Teenagers in 7th grade.  One child is on high honor roll, the other on honor roll.  We are so lucky.

But looking back, the first 2.5 years of their lives, we lived a nightmare. Our days and nights were filled with doctor’s appointments, needles, crying children, a hysterical new mom and with an ever growing list of diagnoses, some of which we had never heard of: Respiratory Syncytial Virus, Kawasaki Disease, venous malformation, lymphatic malformation.

While trying desperately to keep my children healthy and trying to learn about these rare syndromes and diseases, I became that woman whom I detest.  That woman who got lost in trying to keep up with all the medical jargon that the specialists were throwing around, while trying to keep sane, manage working a full-time job while dealing with 2 small babies who were quickly becoming medically complex.  I lost myself in all that.  I became ‘that’ woman.

But over time things began to settle.  It wasn’t perfect, but it became our ‘normal’.  The best way I can describe it is to picture me in a busy diner trying to carefully balance a tray of dishes that are deliberately stacked in tidy little piles.  Everything on that tray is positioned in a very deliberate order so that things make sense and that the tray is not overburden or confusing.

After what seemed like a great stretch of time, it looked like they left all their preemie-ness behind them.  I was able to say goodbye to ‘that’ woman.

We got all our crazy diagnoses in order, along with their treatments neatly packed into our lives so that we could live, laugh, have fun and still be able to deal with the medical issues without throwing our family and schedules into utter chaos.

So now.  Imagine navigating that busy diner, tray balanced on one hand, making our way, and then BOOM!  Here comes a crazed toddler, being chased by a dog who got away from its owner and both the toddler and dog go crashing right into you.

That is what happen to us last June.  We were back at different doctor’s offices looking for answers. We now have an even better understanding of the human body.  It has been one-on-one training from skilled professionals.  My children are beginning to think that they will eventually become healthcare professionals when they grow up.  At this point, they would probably be able to teach a class or two.

I am trying to remind myself that as uncertain as everything is, I will learn from this the way I did last time.  I will be a stronger and better advocate for my children.  Now they are old enough to understand and help us make decisions about their ailments and treatment together.  But at the same time, I am back to feeling overwhelmed and exhausted because my children started becoming medically complex again.  I am back to being anxious as I dread taking time off of work, pulling the kids out of school for more appointments and hanging on every word out of each medical professionals mouths.

I know this road I am traveling.  I know this woman.  I needed to avoid turning into ‘her’ again.  But here we go again.

 

 

Denial Is an Ugly Word

I sat in the parking lot of my pediatrician’s office considering what I had just been told.  I silently started counting off the number of medical devices that have been prescribed to my children:

  1. The dreaded c-pap machine for my son’s sleep apnea.
  2. The nebulizer to treat the twins (and myself) for asthma.
  3. A stethoscope that I acquired after my son’s bout with Respiratory Syncytial Virus (RSV).
  4. An ophthalmoscope – don’t ask how I ended up with one of those.
  5. 3 sets of crutches.
  6. A wheelchair.
  7. A hearing aid to combat my son’s tinnitus.
  8. A blood pressure monitor to keep an eye on my blood pressure.

What is wrong with me?  Why am I not willing to look at the situation for what it is?  I own enough medical equipment to start my own small pediatric practice.  I have medically complex children.  Not one, but two!  And one who has serious mobility issues at times.

I sat there blotting my tears away, and trying to convince myself that marking the box “Permanent Disability” didn’t mean that I was giving something up.  Marking that box would mean accepting a truth that everyone can see, but that I was unwilling to admit to.

After much self-talk, coaxing and cajoling, I eventually resolved myself to checking off that dreaded box.

I unfolded the application for the handicapped parking permit and saw that the pediatrician had already checked off that box.  I silently thanked her and drove to get our new permanent handicapped parking permit.

Who me? In Denial? Nah

Several weeks ago I needed to renew the temporary handicapped parking permit I acquired for my daughter.  Because it is a temporary permit, we have to get it renewed every  six months.

I have been renewing the permit, every six months for the past 4 years.

The day after her 11th surgical procedure on her leg, she was back to using her wheelchair.  I knew her wheelchair use would be temporary and transient.  She would be using it for about a week or two, until she could bear weight on it again.  I reached for the handicapped parking permit only to realize that it had expired two months earlier.  We seldom use it, only when she is in too much pain to walk.  So there it sat in my glove box, expired, for over two months.

Trying to be helpful, I presented the partially completed application to renew the permit to my daughter’s pediatrician.  I easily provided the basic stuff, name, address, patient information.

While reviewing Part 2 of the form “Medical Certification” the pediatrician asks me to spell out her diagnosis – Klippel-Trenaunay Syndrome.  The pediatrician asks me if we should be checking off TEMPORARY DISABILITY or PERMANENT DISABILITY.  Without hesitation I blurt “Temporary! Like always.”

The pediatrician asks, “Why do you keep torturing yourself like this?”

“Hmmm? What?”

“Well, every 6 months for the past 4 years you keep renewing the permit.  I thought your daughter’s condition is a lifelong condition.”

“Yes, it is, but she doesn’t need to use the permit everyday, just occasionally, on the days it’s too painful for her to walk far.”

“I understand, but if you mark off permanent the permit will be good for 5 years and you won’t need another medical certification when it’s time to renew.”

While tears burning my eyes, I fight back the tears and with a very tight voice firmly state “Yes, well, what you do not understand is that if you check off permanent, then…then…the truth is…I physically cannot bring myself to out a check mark in that box that says permanent.  My brain, heart and hand will not allow me to check off that box.  Because that would mean that I would be making an permanent admission, on a legal state form, something about my daughter needing handicapped parking privileges.  I will be saying it aloud.  And that is something that I cannot do.”

And then I couldn’t hold back the tears.

My pediatrician signed the document and handed it back to me.  Both boxes unchecked.  I was given one instruction.  To please photocopy it and return a copy to them for record keeping after I checked off the “appropriate” box.

 

Thanksgiving 2015

What are we most thankful for?

I am starting off my morning with this question in mind.  As I am going down the list of everything that I am thankful and grateful for, I am realizing that I celebrate Thanksgiving more than once a year.  Lately, I have been thankful on a daily basis.

Today I am thankful for the fact that my son’s recent hearing loss and development of tinnitus (permanent ringing in his ear) is limited to one ear.  I am grateful for the audiologist who helped secure a hearing aid to help him manage the tinnitus which has been very distracting and upsetting for him.

I am thankful for the teachers and staff at my children’s school who have been working hard to help my children succeed despite missing many days from school to go to doctor’s appointments or recover from procedures.

I am thankful for the physicians who have been treating my children for the medical conditions.  And for also taking into consideration that all these appointments and procedures can be overwhelming to any child and their family.   I am thankful that they do what they can to help my children manage and cope with their challenges.

I am thankful that my job allows me the flexibility to take time off of work to get my children to their appointments.  I am thankful for the insurance coverage that pays for the services and new equipment we have acquired this past year: a nebulizer, crutches, wheelchair, and most recently, a hearing aid.

I am so, so very thankful for supportive friends and family.  I am blessed to have such kind and wonderful sisters in life who have encouraged me to speak up, speak out, ask questions and demand answers; they have supported me in my quests to get information and get things done; they have been there to dry my tears, make me laugh, help me succeed, take me out for a drink or 3, get me home safely and get me to church to pray for strength and answers.  I am grateful that they have been there to just be my friend.

I am incredibly grateful and thankful for my children who are ROCK STARS!

Despite waking up each morning in physical pain, enduring discomfort, and despite dreading every time they have another appointment, they always show up and prove to me and to themselves that they are strong, brave and powerful!  They have the power to make high honor roll despite having a wheelchair, crutches, a hearing aid and way too many appointments and diagnosis’s.  They prove to their world that they are still kids who know how to have fun despite having so many challenges.

Most importantly, they are realizing why it is so important to always be thankful and show gratitude for the people and events in their lives that are helping shape them.  These people and events are shaping their lives and they bring a smile and the promise of hope.

Happy Thanksgiving!

 

Day 8.1 Life Goes on and it Gets Better

My husband got out of work early that day. It was a day of celebration for us. Our boy’s lung was “healed” and he was no longer just “stable”. He was improving!

It was a huge milestone and success. Seeing our boy with one less tube in his frail body was invigorating. We had been so sad and felt lost for what seemed like a lifetime. For me, my world was at a stand still. But here he was, getting better. It felt like the conveyor belt of life start moving again. It meant that he was one tiny step closer to coming home.

We knew that he still had many more obstacles to overcome. At this point he was eight days old. His birth weight was 3 lbs. 12 oz.. Due to his collapsed lung and subsequent chest tube, he was unable to be fed. Even by tube. He had yet to learn the taste of breastmilk or formula. He was subsisting on IV fluids being injected into his tiny veins. He lost weight and dwindled down to 2 lbs 10 oz.. He had lost more than a whole pound!

Little Mister still had to learn how to breathe on his own. He was still very much dependent on the ventilator.

His body needed to learn how to self regulate it’s temperature, therefore he still required the warmth of the incubator.

His brain, lungs and heart needed to find their life sustaining rhythms. His brain would “forget” to send signals to his lungs to make him breathe. His brain would “forget” to send signals to his heart to make it beat.

He still had so much more healing and growing that he needed to do before we could even begin to hope that he would come home soon. But we took that day as a day of victory and celebration. It was a step closer to us being able to bring him home. Being weaned off of the chest tube was a monumental task for him to have achieved. His little body has already been so battered and been through such awful trauma, and he was overcoming an awesome feat for someone who weighed less than 3 lbs and was only on this earth for one week.

He is my warrior, my fighter, my champion and a survivor!
He is my son!

There is nothing happens to any person but what was in his power to go through with. ~ Marcus Aurelius

Day 8 Life Goes On

Hubby went back to work right away. At first for only 1/2 a day. But at the dawn of a new work week, he was back at work fulltime. We couldn’t afford to live on my short-term disability income (but thank goodness my employer offered it) and have him without a full paycheck. The world continued to spin. Except mine. Now, looking back, I realize that my world didn’t stop spinning, it was just spinning on a new rotation that I did not want to be a part of.
But, life did go on. Every day, I pumped breastmilk every 3 hours, even in the middle of the night. I got dressed, waited for my mom to get me. We would have breakfast together and then go to the hospital. We would spend between 10-12 hours hovering over the incubators. Hubby would go straight to the hospital after work to visit with our children. We would go to the local diner for dinner during change of shift. We’d visit for an hour more and then go home and then repeat the cycle the next day.

On the 8th day, I entered the NICU and stored my breakmilk in the freezer. Oddly, the nurse’s desk was empty so I couldn’t get an update. Panic started to rise in my throat, as I approached my son’s incubator, I realized with horror that it was empty! And it was a mess. There were wires everywhere, the paper bedsheet was askew. I looked for the nurses and they were moving quickly, but happily huddled around a baby. They lifted the baby onto a scale and I saw that it was a boy. Could it be my boy?
It was! And he was free. Free of the cap on his head, the mask that covered his eyes, the venitlator that covered most of his face. And best yet, free of the tube that had been inserted into his chest! There was a huge bandage that covered the space where the tube was.
I spoke up with tears “That’s my son!” One of the nurses saw me and gave me a huge warm smile. “Yes, and you should be so proud! His lung has healed nicely and we were able to remove the chest tube.”

“Can I hold him? Please?” She then gave me a sad smile and told me “No, I am sorry. We need to move quickly and get him back on the ventilator. He still a needs help breathing. We were hoping to surprise you before you got here today.”
“Oh, I am most certainly and pleasantly surprised, but, can I see him before you hook him back up?”

She slid over and let me stand next to her as she hurriedly finished weighing him and did other things to him. I did not care to notice what she was doing because I was finally getting my chance to see what may baby looked like. And, oh my, he had the deepest darkest brown eyes I had ever seen. They reminded me of chocolate candy, Hershey Kisses. They were that milky brown. And his hair was jet black. And he had so much of it!! Meanwhile my daughter had very light colored hair and not much of it. She looked more like a hairy little peach. His hair was straight, dark and stood out in all directions. He was beautiful!  And I was in love all over again.
And he was getting better!

 

Lesson learned: I have looked into your eyes with my eyes.  I have put my heart near your heart.

Pope John XXIII