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.