Sunday, February 10, 2013

Heart Month and Tiny Titan Living with Noonan Syndrome Video

February is filled with hearts. Heart Month,  Noonan Syndrome Awareness Month and this week is Congenital Heart Defect Awareness Week.

For me Heart Month holds very special meaning. Miracles, heart failure, healing hearts. My daughter my heart.

I spent today putting this video tribute to Miss Becca together in order to raise Awareness about Noonan Syndrome and Congenital Heart Defects. I hope you enjoy watching Miss Becca.

FASD-- Lost Again?

So how many copies should I get this time for one of my adult children with Fetal Alcohol Spectrum Disorders? The first one is $26 and the second one is $19. I better get both, but I would get more as I know that I will need it. But 2 is all I can get at once.

Said young person needs it to replace his lost Drivers License.

I do not let my copy out of my possession and I never let them have it when I was around. But finally Shays are being kept with her case worker after all the times I have done this for her.  But for the rest, they have no one to keep it safe and not lost as they are expected to be able to organize their adult lives.

I have the link to the Minnesota Department of Health Birth Certificate document site bookmarked on my computer I end up here way too often.  It makes me nervous that my adult kids birth certificates are so often lost and floating around.

No matter how often I remind my adult kids with FASD to put their birth certificates, social security cards in safe places. Set up systems for safe places, they still are always getting lost.  How many times do I have to prompt them through getting another document, (most of them can't navigate the complexity), besides they never have the money.

I have even tried to have their workers request them for them and find the funds to put the workers on the spot and also get them educated on just what help my kids need. But they leave them without proper documentation, state ID's, and without access to proving their identities so they can pick up checks, apply for services and supports, much less in case of emergency.

When I find wallets and billfolds on the 70% off clearance racks at Target or other stores, I stock up as eventually I will need another.

Today said young person who needs the birth certificate that I had spaced off reminded by the facebook post this morning that he was jumped last night and his belongings stolen. Stolen or lost I have had plenty of experience of replacing the contents way too often with my adult sib set with FASD.

Monday's facebook post revealed another of mine putting out a request for phone numbers because of another lost phone. That one can no longer qualify for lost phone insurance coverage because of too many lost phones.

I called to check in and was excited to find out that the phone said person bought with the Visa Gift Card we gave her was found.  Thank you staff.  But only after a 6 hour tantrum it was found in a pile of clothes.
But it was found. I cannot fault her, much less the others when things are lost. It is all just part of FASD.

Vent for the day. No one gets it, but Mom's who have walked this path.

When Age Is Just a Number

When age is just a number.

One of the biggest frustrations with transition with my children with special needs is the age thing. 18 the magic number between childhood and adulthood and for some of my children they were not ready for the responsibility associated with that right of passage.

With my young adult children with Fetal Alcohol Spectrum Disorders and even my daughter with Noonan Syndrome one of the hallmarks written on every description of what the syndromes entail is that they have scattered skills and they have delays in maturity and often function at an age much lower than their chronological age.  So why do they expect them to be ready for all the rights and responsibilities of being an adult when they can't at 18 or for some of them ever?

The school hands them at their IEP the On Rights and Responsibilities booklet outlining their upcoming independence just before their l8th birthday.  The medical field and psychiatrists, schools, support services all expect them to be able to navigate a complex system of paperwork, funds, appointments and schools choices themselves.

As a parent up until l8, sometimes I had trouble figuring it out myself, so how can we expect these young people to do it who have hidden brain damage, hidden learning differences, sensory issues, social issues and add in the immaturity issues.  Who would think someone functioning at age 8,10, 12 or 14 who has no concept of time, or money or planning skills can do it?

Then add, that the schools, the counselors all expect our children to go to college. So our kids next step is to be like everyone else and head to college. they do not want to be left behind. I have a hard time with our societies expectation that everyone needs to go to college. Some need hands on training programs, or a technical school to do well. But that is a lesser choice according to our society at this time.

Of all my adult kids with disabilities the one who we thought could handle it, couldn't, thousands of dollars wasted in a learning experiment leaving him fighting frustration and depression. For some of the others, college is one or two classes at a time taken much later when their maturity and their developmental age was ready, not their chronological age.

Would you send your 12 to 14 year old to college and expect them to understand the complex world of financial aid, do the college coursework and have the wisdom to stay away from all the temptations of having too much fun?

 For the highest functioning of my and my friends young adult kids with FASD's, they are the ones who struggle with expectations the most.  They have the smarts to get into a college, they have the SAT and ACT scores to prove it, but yet they have executive function deficits and under stress their ability to handle things they can handle normally become literally impossible. Remember these are young person with hidden brain damage which struggles with money concepts and planning ahead skills despite their normal IQs and often never a day of special education.

For some, home with a life of simplicity is what they aspire to through the early years of transition. What is wrong with that?  Enabling sometimes I am accused of. No they just are not ready yet. They are learning in their own way the life of interdependence that will keep them safe, keep them supported and let them develop in their own time. Not pushed by the time clock of age into circumstances that they cannot be successful in. For my girls at home, they may need assistance for the rest of their lives.

Many of my friends think guardianship is the magic tool, but that means we are labeling our loved ones as not competent.  Something to not be taken lightly. There is a fine line and courts do not give it easily.  For some it is the right thing, for others, I learned tools to use to navigate without having to go to such extremes.

 For the others, they think they are competent, and really do not understand what they don't understand.  That is scary for a parent, and frustrating when life comes back to bite them, calling while disregulated or in crisis of another blip of lack of planning, lack of judgment, and something for Mom to fix. But I do not fix it. It is my job to help guide them through the learning lesson that is so painful to watch.

Life is never dull and some of the predicaments they find themselves no long shock me. I just take a deep breath or two and roll my eyes and just remember that the adult child on the phone may look normal, but they have hidden brain damage and I can't be just another one of those people who expect them to be able to do it on their own when they can't.  A life of interdependence, an external brain when they can't count on their own.

The thing that makes me the most angry is when you try to explain to someone, professional or not the reply.
"That is just teens or young adults ". It is just teens or young adults compounded by hidden brain differences with expectations they should be able to do something or understand something and their is a faulty circuit or immaturity that is part of their disability.

I do not enable my adult children, I support, connect the dots and my response for each one carefully geared to fit their understanding and brain difference.  But the biggest lesson for me, is that I have to let them walk their own walkabouts, slower preferably than others, or later than others, but no matter what an opportunity where they have to learn to come to term with their own abilities and disabilities.

Saturday, February 9, 2013

Heart Webinar-- Noonan Syndrome and The Heart

Last Tuesday I had to opportunity to listen to this Webinar on Rasopathies (Noonan Syndrome) and the Heart put on by the Rasopathies Foundation.  Dr. Bruce Gelb did an amazing job explaining heart issues found in Noonan Syndrome and other Rasopathies.

Go watch the Video and learn about the heart issues that Miss Becca had and remember while watching that she is one of the survivors of the most severe infants with Congestive Heart Failure from her Hypertrophic Cardiomyopathy before age 6 months he talked about. Becca also has Pulmonary Stenosis and a huge ASD which were operated on at age 9 months through open heart surgery to remove her Pulmonary Valve and close her ASD.

Wednesday, February 6, 2013

Blast from the Past: Becca the Model

A model with Noonan Syndrome and autism for Target.

I was going through pictures and stumbled across Becca's modeling gig. This is a copy of one of the posters that were posted in the Toddler Departments at Targets across the country back in 1993. I took Marissa on a modeling audition and Miss Becca at 5 landed the job. Her outfit was a 2T and she was in Kindergarten. A 8 foot poster hung across the toddler departments from the ceiling for several months. Much bigger than life size.


I was asked to write a blog posts for the Rasopathies Foundation in February. February is Heart Month and now Noonan Syndrome Awareness month. For me February and heart month brings me back heart fears and heart miracles with my journey with my daughter Becca. (Written for the Rasopathies Foundation and Noonan Syndrome Awareness Month).

My Daughter, My Heart

From the very earliest of moments with my daughter Becca, her heart was at the heart of her issues.

When she was just 2 days old a knock on the front door with a police officer informing us to call the hospital signaled the pounding and terror of my heart.  As I raced up the steps, barely touching any, grabbing the phone I called the number on the piece of paper handed to me by the police officer. The first words from the nurse were, "She is alive, but her heart is causing issues and she is being airlifted to the Children's Hospital of St. Paul".  Thus began our journey of the heart.

They found out that Becca's heart had Pulmonary Stenosis, and a huge ASD. Early on she had only a little thickening from Hypertrophic Cardiomyopathy.  From August to October, her stay in the NICU was marked by figuring out all the other things wrong with tiny Becca. They felt she had some unusual form of Noonan Syndrome, but she was just too severe. Her immune problems, her high white blood counts, her constant thrush and staph infections puzzled the best of the professionals.

At nearly 3 months, they had placed her gastrostomy and repaired her malrotated intestines and with a shot of Fentanyl for the pain she went into respiratory and cardiac arrest.  For 13 minutes tiny Becca's heart was not beating. Seeing my daughter in deep shades of blue, I ran from the NICU, ran from the trauma and only adept nurses would corner me into reality and calm my racing heart. The doctors came to me with we were able to restart her heart, but we do not know how much brain damage she suffered, only time would tell.

The NICU staff were talking about discharge by the end of October, and I was seeing something in Becca. I told them of my concern and the staff told me that it was probably fear of bringing home Becca. The panic caused my heart to race. Maybe they were right, I was afraid of the responsibility, I was afraid of the future, my life racing seriously out of control.  On Halloween, Becca played tricks on her staff with her heart and soon the Pediatric Cardiologist was called back in. They came to me with the news that Becca's heart was worsening. I was not just a panicking mother, I knew in my heart that something was wrong, her spark, her eyes told me.  My mothers intuition was right and thus began the struggle with my mothers intuition and not wanting to see anything more wrong with my tiny daughter.

Hypertrophic Cardiomyopathy, Pulmonary Stenosis, an ASD and all the other things wrong with Tiny Becca, I knew that my daughter was really sick. They started Lasix to relieve the fluid that was filling in her tiny body. She was in the beginnings of Congestive Heart Failure.  Heart failure... caused this Mom's heart to worry.

Thanksgiving would arrive and the hospital sent our tiny daughter home to make memories as they had told us that they didn't know how long she would live.  They were always honest about her poor prognosis. But for us, we learned to accept that every day with Becca was gift. Time home would be limited, and I learned very quickly that I could not do this alone. I had a critically ill baby and five other children under 11. I had to learn to accept help and open my heart to sharing our struggles and journey with those in the power to make decisions and find resources.

Christmas came and went, and I miracles of the season changed our hearts and gave us HOPE. (Read the Christmas Story here)  Becca's heart was in serious trouble and by February, we were given a two day pass home before her heart catherization. I sat with Mary the social worker and realized that Becca's  6 month birthday was on the 3rd and it may be the only birthday we would ever be able to celebrate. I had few memories, we had few moments of home and we needed a celebration.  My camera had been stolen and the only pictures we had were snapped by the staff of the NICU.  Mary had me call Make-A-Wish and I told them of our wish to borrow a video camera so we could record memories of my dying baby.

Make-a-wish requires a wish to be that of a child, not of the family. Becca would never live to be old enough to get a wish of her own. I thanked them and went on to planning a special Heart Party for Becca. (Read the Valentines Story here ). The house was decorated in hearts of all colors, friends, family and others all arrived and that evening would be documented as a camera crew surprised us and showed up at the house to record Becca's party of the heart. We were not alone in our journey, Becca moved peoples hearts.

The next day, we were off to the hospital for her cardiac catherization, as I ran the stairways of the hospital to relieve the stress of waiting my heart raced. As my heart raced, in the cath lab she heart scared the doctors with going into Ventricular tachycardia.  It was too close.  But Becca hung on and the news was not good. They couldn't balloon the valve and her heart was thickening even more. They told us that she would be ineligible for a heart transplant due to her immune and hematologic status.  But they would present her case to a team of Cardiologists and see what they thought.  That February was a month of waiting for news for Becca's heart.

The team decided to try to fix the parts of her heart they could and see if they could buy her more time. But it was risky with her severe biventricular hypertrophic cardiomyopathy.  The day before the surgery would arrive and so would her exposure to Chicken pox. Ian had broke out and the phone call to the doctors would push the surgery back. Her heart was pounding so badly that her tiny chest shook from the force.
No stethoscope needed to count her heart rate.  Becca was blue, often on oxygen, and she was having spells of oxygen not reaching her brain. They thought the pulmonary valve was intermittantly clamping down leaving her for a few seconds with eyes rolling back into her head. A Zoster booster shot to give her the immunities to the Chicken pox and all but Kristy left for Grandma's as none of the rest had had the pox.

March 27, 1990 Becca faced open heart surgery and our church had people signed up to pray in 15 minute spots around the clock for the day of her surgery and the days that followed. We knew that she may not survive the operation they warned us, but we no choice but this last ditch effort to save our dying baby.
Seeing her after the surgery was awful. She was swollen, she was not doing well. A high fever signaled a staph infection, her chest had filled in with lymph which tests later revealed her immune system was non-existent.  Slowly with prayers Becca's status improved. One day I arrived in the Pediatric Intensive care unit to see her up and out of bed in a baby swing dressed in little angel heart pajamas. My daughter's heart was mending.

Time would heal the repairs on her heart, and within months Becca would have new strength. By her first birthday she sat up for the very first time and she would no longer be blue when we tried to give her a bath. Time on oxygen was limited and with being on IVIG (to boost her immune system) Becca was beginning to thrive.  Equipment and 24 hour staffing had arrived in our home, and some days it was a full-time job for the nurse and I to manage her complex care. But I didn't care, my daughter was still here.

I would put my hand on her tiny chest and marvel at how quiet her heart was now. But the hypertrophic cardiomyopathy was a concern, but for today my daughter's heart was quietly beating in her chest.

Every visit to the Cardiologist would send my heart into panic. Every time I would go for many months prior it was always more news that things were deteriorating.  As time would move on, the visits caused less panic as they talked of her heart being stable. No more congestive heart failure.

As time wore on the visits revealed a lessening of the thickening in the walls of her heart. By age 7 the Pediatric Cardiologist told me that they could see no residual Hypertrophic Cardiomyopathy.  After the visit I stood on the top of the parking garage looking up over downtown, looking at the blue sky with scattered clouds while my heart soared, I yelled out at the top of my lungs, Thank you for the miracle.

Her heart can scare her, medications have caused her heart to race. Third degree heart block at age 9 caused her heart to scare us. At 21 atrial fibulation found at a visit to the Adult Congenital Heart Defect Clinic would give us a news from the Cardiac MRI that her heart was functioning much better than they thought. Now we just wait, follow-up and pray for her heart.

Hearts .... Valentines Day... Congenital Heart Awareness Day, Heart Month, Noonan Syndrome Awareness Month.  Only appropriate.

For Becca we got a miracle. We know that there are chances that the thickening in her heart may return as miraculously as it went away. The biopsies of her heart muscle showed us that she has unusual muscle fibers. We know that heart repairs done on these wee ones can wear out, we also know that her right ventricle has to be watched and her missing pulmonary valve may need replacing some day. We know that the lymph after her first heart surgery may be a problem for the next time. We know that every day with Becca a miraculous gift.

A confirmation after listening to Dr. Gelb last night about the prognoses of some of the sickest wee ones with Noonan Syndrome I think about all those we have lost over the years and wonder why is it that Becca survived and they didn't?  A bittersweet reminder to my heart of all the Mom's and Dad's who lost their wee ones leaving them with a broken heart.  It could have been me.

I am honored to be involved with the Rasopathies Foundation and we pray that the doctors will learn more to help those with Noonan Syndrome and other Rasopathies. 

Tuesday, February 5, 2013

Nothing is Ever Simple

Most people get MRI's and it is not complicated. But for Miss Becca everything is complicated.

I took her to the physician for her monthly check in the the clinic appointment. She was due for her 6 month follow-up MRI to look at the tiny spot they found on her brain. Her MRI at l7 did not show anything, but an MRI done to find out why she was getting dizzier revealed a little blip. The neurologist thought it was just an artifact on the film or something.

The MRI a few months later to look at her cervical vertebrae showed it too as it is low in the back of her head. Recommendations, 6 month MRI to watch to see if it changes etc.  Basically wait and see.

Knowing too much about Noonan Syndrome and too much about medicine is not a good thing sometimes. I know that because of Becca's PTPN11 Noonan Syndrome gene she is at risk for developing cancer. She had JMML cancer (kind of like a leukemia) as a baby. But in NS they sometimes spontaneously get better.

So I cannot worry, sometimes I can forget, well maybe push it out of my mind, but not yesterday.

I told the provider at her appointment that the last time she had an MRI that she was premedicated due to she reacted to CT contrast. She argued with me that CT contrast and MRI contrast are different and there was no need for premedication to cut the reaction. Dr. Sheirlie is out on maternity leave and so I have to trust that the provider.  I told her to go look in the chart to see what they did last time. Phone call with the date, no premedication necessary. Dr. Sheirlie had come up with a plan that maybe we can treat the migraine that will ensue from the noisy buzzing MRI machine and Becca's autism hyperaucusis (hypersensitive hearing). Normally she will end up in the clinic or ER to get a shot to treat the severe migraine headache. Why not treat it before it will get bad?
Great plan.

I took Becca to the clinic dressed in her scrubs to avoid the dreaded hospital gown trigger for her shot of Torodol and gave her the Zofran for the nausea/headache and got her Valium on board and handed her off to her Doctor Dad who just happened to have a light afternoon clinic. Thank you God for simplifying my day.

For the first time, I had to trust her Dad for a complex procedure. I wasn't there. I ran home to meet the dishwasher repair guy relieving Detamara of the responsibility of letting him in. Little Guy's new teacher was coming to see him and learn more about him for his transition to the Early Childhood School program next month.

Her MRI was scheduled for 2:30 and a few minutes before three, I had an ugly stomach turning moment of feeling upset to my core. I brushed it off for jitters or a mini panic attack and picked up little guys toys before the arrival of the teacher. The repair guy arrived, the teacher, and soon Becca and the Doc walked in.  The stomach/jitter event,
triggered by something happened at the end of Becca's MRI. She reacted, off to the ER with Doctor Dad, bypassing the front desk back to the ER and off to see the provider who remembered her CT contrast event and soon a shot of Benedryl relaxed her tightening bronchial spasms.  Wait a few minutes and home to recover.

Becca slept the rest of the day and I checked on her often to make sure that with all the meds on she was still breathing.  Enough said there, as I write the tears fall.  Sometimes I do not like my job as Becca's mom, it is so hard to watch her go through all this. Seeing her hurt, living with so many unknowns, it is not easy. Somedays it just plain sucks.

But today it is over, we wait for the results. But I do have a little comfort because of perks of Doc being there, he got to look at the CT and talk to the Radiologic Tech who saw the spot and it is tiny, but he didn't have the last MRI to compare it to. So a tiny blip remains, tiny is the operative word.

So today it will be a day of aftermath..... Pictures tell it all.