smard1

I received an email from Bekah's geneticist.  He suspects she has a rare genetic disease called spinal muscular atrophy with respiratory distress type 1 or smard1 for short. In this disease the neurons that activate the muscles die in the spinal column never reaching the muscles.  There's a blood test for it, but the doctor is hesitant to test because only 30-60% are diagnosed.  He's having a conference with the othe geneticists to determine whether Bekah will review this test.

After receiving this news, I immediately turned to dr Google for more information. What I read floored me.  The progression of the disease read like one of the pages of this blog.  It was point by point accurate to Bekah's journey.  Here's the website I found most useful http://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-respiratory-distress-type-1.

I feel like we're closer to a true diagnosis than ever and I will push for the test.

In other news, Bekah is doing really well and eating by mouth like a champ. She's talking a lot and experimenting with new syllables, but no true words yet.

Genetics

This is how Bekah goes anywhere, and by anywhere I mean doctors appointments.  She never goes anywhere else.  An ambulance comes for her staffed with EMTs, nurses, and or respiratory therapists.  The team works together to carry her and all of her gear to the gurney waiting in the courtyard.  She is given a cocktail of Ativan and Benadryl one hour before transport to keep her calm.  If she gets upset, it can quickly turn into an emergency.  I ride along in the back and Bekah's nurse usually gets shotgun.

Today, we went to a much anticipated appointment with a geneticists, Dr. W.  I didn't know what to expect.  I've met with a geneticist before, Bekah wasn't present, and the meeting didn't go well.  The doctor was a condescending jerk and made it her whole point to express to us not to expect a cure.  We weren't naive and didn't need that sort of negativity.  This meeting was totally different.

Bekah was required to be there so the doctor could examine her.  His assistant came in first, took some cursory notes on family medical history, asking about the health of siblings and cousins and curious about any untimely deaths like that of my sister.

After the interview was over, the doctor came in and his first words after introducing himself were, " Rebekah!  I have read a LOT about you."  Great first impression.  He asked me some more questions about family history asking if anyone had muscle weakness or difficulty letting things go.  Letting things go?  The only thing my family has trouble dropping is a grudge.

So with family history offering no new insights, he moved on to his exam.  He measured the circumference of Bekah's head, her nose, ears, hands and feet.  He was particularly interested in her hands.

Her fingers don't straighten out all the way and she has a birthmark across her knuckles.  But he was interested in the shape of her fingers.  They're tapered but quite chubby at the base.  This was a curiosity to him so he took some pictures.  He plans to consult with the genetics team about her in November, hopefully some of the other doctors have some insight. 

I had been hoping that this appointment would lead to some testing that might confirm her muscle biopsy reports.  Dr W. explained to me that congenital fiber type size disproportion is poorly understood.  Previously, they could determine two genes that cause cftd, now they identify 6.  In a year's time, there's no telling what advancements and discoveries might be made.  Until the human genome is better understood, there are no easy answers for Bekah.  She is still considered undiagnosed, but cftd is the most suspected cause of her weakness and respiratory failure.

Congenital fiber type size disproportion is a genetic disease.  Muscles are made up of two different types of cells called fibers.  You have long fibers and short fibers working together to produce movement.  In Bekah's case, one of these fiber types is too small so the muscles can't work.  It is a very rare condition with a wide variety of presentations and outcomes.  Some kids with cftd play soccer, some are chair bound.  Some improve, others do not.  There's no telling what the future holds for Bekah, no way of knowing what life will be like for.

In the meantime, it is enough to know that she is happy and comfortable.

Turning 2

Today is Bekah's second birthday.  Each one is a special celebration because it means that she has survived and thrived another year, often defying death.  I want to share with you what we've learned about her both medically and as a person.  But first, some pictures.

Thirty-three hours of unmedicated labor, I though I was smiling when this picture was taken.

7lbs 2oz born 11:55am.

First birthday party

Today.

Last year we learned that Bekah does not like cake and ice cream.  She cried and scraped it off her tongue with her gums. This year the cake and ice cream is for the adults. No need to torture her.  She loves savory foods like turkey and lamb.  Spaghetti and chili are her favorites.  She has an amazing amount of patience.  She can wait calmly while you find a new show for her to watch on her tablet.  She will even wait for you to notice that her old show has ended before she starts yelling at you. Bekah doesn't stay in bad moods very long.  She gets upset and she is easily comforted and returned to her normal quiet nature. She loves music...most music.  Every now and then, we come across a song or a band she hates and she will protest loudly until it's over.  She has a particular fondness for Django Reinhardt and early jazz.  She loves physical and play therapy.  I think she would skip occupational therapy if she could. She hates having her mouth messed with and occupational therapy focuses on feeding.  

Medically, we have not learned much over the past two years.  We know that her muscles are paper thin, but we don't know why.  We know that her muscle cells do not match and this could be what's causing the weakness.  We know that, with physical therapy, she can improve, but that this improvement is very fragile.

In this upcoming year, Bekah will see a geneticist who can hopefully shed some light on these mysteries.  She will meet with a neurologist at UCLA who specializes in cases like hers, hopefully confirming her suspected diagnosis of Congenital Fiber-type Size Disproportion.  Hopefully we will have some answers. Hopefully this year brings progress that cannot be erased by a cold.

Next year Bekah will be three and she will start school. If she is strong enough, she can go to a special needs school with other children.  This is our dream for her. Otherwise, a teacher will visit our home.  We want her to socialize and learn from her peers, but her health is paramount.

Being silly and enjoying a show at the hospital.

The roller coaster

.Bekah will be 2-years-old in just a few days.  After a recent trip to the hospital we weren't sure if she would be home to celebrate.  She did so well in the hospital this time.  I've complained in the past that nothing is ever simple with her, but she breezed right through her six day stay and managed to get all of the nurses eating out of the palm of her hand.

 Early Saturday morning, I was awakened by the nurse shouting my name and the sound of the ventilator alarming.  I rushed out to discover the nurse responding to a semi-conscious Bekah.   We were rushed to Cedars Sinai where it was revealed that her left lung had completely collapsed.  She spent three days there under a strict regimen of chest physiotherapy and heavy medication.  When her lung opened up she was transferred to Kaiser, her medical home, to consult with her specialists.

Being at Cedars has its perks.  They want parents to stay in the room with the baby, so they provide you with three meals a day.  On the other hand, the place is a labirynth.  If you do leave the room, you are likely to get quite lost and with an unstable kiddo, the thought is terrifying.  Also, the windows are small so it's hard to gauge the passing of days and ICU psychosis sets in pretty quickly.  They are also woefully underprepared for trach/vent patients like Bekah.  They lack the very basics in both supplies and training.  I always have to be hyper vigilant when we're there.

Kaiser is better in some ways.  All the doctors and nurses know her well and they are experts in caring for trach/vent patients.  They don't feed you and the cafeteria is pricey, but the layout of the hospital is simple and the windows are much larger.  During extended stays, I usually go hungry because the cost of food is so high, but it's a small price to pay for excellent care.



This recent hospitalization was a "bounce back."  That's what they call it when the patient is home less than a month between admissions.  Her previous stay was much more terrifying.  We were there a month and I lost 15lbs.  Bekah lost much of her ability to move her arms and left the hospital addicted to a drug that is 100s of times stronger than street heroine.  She almost died and had to have a blood transfusion. Visit was prompted by the common cold.  Her weekend home nurse came to work sick and it devastated Bekah's delicate respiratory system.  The doctors couldn't get her stable so they had to sedate her for a week during which time a central line was placed.  This is sort of like a very deep i.v. that goes into the femoral vein.  This got infected with a resistant form of bacteria that spread throughout her body in a matter of hours.  Her blood pressure dropped so low, her heart was unable to pump blood to her extremities.  This is where the transfusion came in.  They had to increase her blood volume to ease the load on her heart and stabilize her.  She was on heavy antibiotics for a solid month.

Recovery is slow going.  She has stopped eating by mouth and lost a lot of the strength she had gained.  Fortunately, her physical and occupational therapists are optimistic.

We are looking forward to her second birthday and hope she will have at least a taste of her cake.  I will post her two year pictures in another entry.

New Hope

I haven't posted here in some time.  I have found it difficult to reflect on the hardship of Bekah's early months in the face of an uncertain future.  I have been pining for some sort of developmental milestone that might shed some light on how life will be for her.  I haven't been optimistic.  Many medical professionals have told us to be prepared for a wheelchair.  Geneticists have told us not to hope for a cure and Bekah's physical therapist has shared concern that she will never be able to sit unassisted.

After her tracheostomy, she became completely floppy and unable to move.  She was like a wet noodle, completely limp.  She has had several neurological exams and diagnostic tests, but the answer alludes us all.  During one of her hospital stays, Bekah's neurologist tested her for myasthenia gravis.  This is an auto-immune disease that is treated with medication.  The test is performed by administering the medication and the results are instantaneous.  If the patient has the condition, the medication will make voluntary movement possible.  The following video was taken the day before the test.  In this clip, she is playing, using all of her strength to move.

Bekah does not have myasthenia gravis.  She was still unable to move.

She has been home most of the time since December 31, 2013.  She has therapy five days a week.  Occupational therapy and physical therapy come twice a week each and she has play therapy once a week.  Her major breakthrough occurred at 6 months of age when she began to eat pureed food.  She started with avocado and is now eating lamb and sausage, curry, and all kinds of delicious table foods.

Since then, there has been little progress and many many set backs until just recently.  Something remarkable happened and for the first time I know Bekah is going to okay.  Here's the video.

 It may not look like much, but what you're seeing is Bekah making coordinated movements to spin the wheel.  Jeffrey is supporting her wrist to alleviate the weight of her arm so she can use what little strength she has to make the movement.   As her fingers reach the wheel, she attempts to wrap her fingers around it.  She hasn't been able to grasp or use her fingers at all since before her tracheostomy.  This is a huge development.  She still isn't strong enough to move without support but she understands how to use her muscles and has gained enough strength to begin to grasp.  This is the first time I have ever had true hope that she will have quality of life.  If this is a trend that continues and her strength increases, she can do almost anything!

what kind of mom

This isn't the kind of mom I thought I would be.  I expected lots of sleepless nights, breastfeeding, bathing, spit-up and mounds of poopy cloth diapers.  I expected to forego the stroller in favor of wearing my baby for as long as I had strength.  I wanted Bekah, really wanted her.  I planned this baby very carefully.  I was elated to learn I was having a daughter.  She was exactly what I wanted.  I researched recipes for home-made diaper rash cream and made almost 200 cloth wipes in preparation.

Last night, I slept through the night, like I did the night before and the one before that.  I'm not awakened by a hungry baby or a wet diaper.  If I'm awakened it's by a knock at the bedroom door.  The nurse needs help and something is wrong. That doesn't happen very often, so most nights I sleep through the night often with vivid, horrific nightmares.  These dreams are always about the trach.

Most often, I am awakened by my alarm clock at 6:45am.  The night nurse leaves at 7 am.  I peek at my still sleeping baby and sign paperwork for the nurses chart.  Sometimes I doze off on the sofa and wait for the feeding pump to tell me it's done feeding my baby.  I refill the pump at 9am with formula I made the night before.  Bekah usually sleeps through this.

She wakes up when the dog barks at the door.  It's 11am and the day nurse is here or the physical therapist is here.  Sometimes it's the occupational therapist. Her day begins with a cheery nurse chatting with her as she takes her temperature and changes her diaper.  I sit on the couch and answer questions as therapy gets underway.

Today the physical therapist came at the same time the nurse did.  I watched and took notes as Bekah was guided through a series of exercises.

 After that. I went to the bank to set up an account for Bekah.  Her disability qualifies her for SSI.  That took forever.  Then I went to pick up a few things she needs for her therapy.  I was in a hurry this time because I needed to be home before the occupational therapist arrived.

When I got home, the therapist was just getting started.  I watched as she tried to teach Bekah to take a bottle, introduced the sippy cup I had just purchased, and finally fed her some pureed peas I made the day before.

When that was over, it was time to take Bekah outside with her stroller and all her equipment.  We were doing a dry run.  She sees an orthopedic specialist on Monday.  We will be taking a cab and I don't want any surprises.  After we are sure we have things situated and are confident that Monday should be an easy time, we head back up stairs.

Lugging the heavy equipment did a number on my back, so I sat down to let my muscles unfurl.  I could hear my baby fussing, the way she does when she's trying to go to sleep. The nurse is sitting down with a blanket, ready to hold her.  I pick up Bekah for the first time today and place her in the nurses arms.

It is now 5:26pm and I haven't cuddled with my baby once today.  This isn't the kind of mother I hoped to be.  I'm the kind of mom who can do CPR at the drop of a hat, can navigate bureaucracy, advocate for services, speak "medicaleese," and do everything a critical care nurse can do in the home setting.  But sometimes, I just want to hold my baby

5 kilos

It had become clear that Bekah couldn't breath on her own.  She would have to be transitioned to a home ventilator.  This is a smaller version of the hospital vent.  But to use this, she had to weigh at least 5 kilos, that's just a little more than 10 lbs.  She only weighed 4 kilos and was underweight due to all the interruptions in her feeds for so many procedures.  Her milk was fortified to help fatten her up more quickly and her feedings were finally regular.

Occupational therapists began working with her to encourage her to use a bottle.  This was a challenge.  She breastfed for the first 3 weeks of life, so the bottle was foreign to her.  She hadn't had anything by mouth for half of her life and now she was being encouraged to coordinate her muscles in such a strange way.  If she didn't latch on, she was going to have to have a g-tube.  They tack the stomach to the abdominal wall poke a hole in the belly and insert a feeding tube.  This tube is held in place by a water filled balloon inside the stomach.  I hated the idea of it and held my breath anxiously during every occupational therapy session.  Sometimes I was so tense I had to leave the room.  I couldn't tell her "Come on, honey, take a sip or they're going to poke another hole in you."  The work continued daily for weeks.  Finally the therapist looks at me and says, "I feel like she's right there.  She's right on the verge and just about to latch on."  I was so excited and finally looking forward to the next session.
The next day when the therapist arrived, Bekah wasn't doing well.  Her blood oxygen saturation was
low and her heart rate was high.  She was struggling to breath.  There would be no therapy today.

Bekah's right lung had collapsed.  Days would pass before she was strong enough to try again.  Speech therapists wanted to be sure Bekah could swallow, so they performed a blue dye test.  A bit of blue food coloring is applied to a pacifier and Bekah was encouraged to suck.  Over the next 24 hours we were to watch carefully that none of the secretions we suctioned from her trach were blue.  If this is the case it would indicate that she wasn't swallowing her saliva and was instead breathing it into her lungs.  This test was passed with flying colors, or rather the lack there of.  All of her secretions were normal.

The next step was a blue dye swallow study.  She was given a bottle of milk dyed blue and the same process was to be repeated. Unfortunately, she didn't latch on and she didn't suck.  She did swallow what poured into her mouth.  Because she wouldn't suck and swallow, the final test could not be performed.  She would have had a swallow study where they give her some luminescent fluid and watch her drink it on a floroscope.  The decision was made.  She would have a g-tube placed.  She was incapable of feeding by mouth.