Sammy Stands!

Happy Easter everyone.  The Mazza boys are having a great time in their 16th month.  Yesterday they celebrated their Aunt Jamie’s birthday.  Today they went to see the Easter Bunny for the first time, and today Sammy got to stand for the first time, using some fancy technology.

The San RAmon Valley Unified School District provides various therapy and development programs for Sammy on a weekly basis.  Today his Physical Therapist, Dawn, came over and helped Sammy get into this contraption that looks a lot like a hospital gurney.  But once he’s strapped in, we can tilt him up and voila – Sammy can stand.  This is great progress for him as he continues to build strength in his body.  It’s important he gets the feeling of being upright on a regular basis, so I’m excited to see him do more of this.

Anyway, enjoy the pictures below!

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Sammy’s cool stander is helping him see the world differently.  He seems to like it!
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Can you tell the boys are excited to meet the Easter Bunny?  These are their Easter outfits that Kristen bought.  And no, Sammy’s left foot isn’t broken.  His shoe is just turned around!
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Aunt Jamie turned…uh… 29 on Wednesday.  The boys helped her celebrate.
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Sammy’s Next Sleep Study

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Sammy and Kristen are in Walnut Creek tonight at one of John Muir’s facilities doing another sleep study.  This is where they’ll put lots of wires and sensors on him to checkout how he sleeps, how his breathing works, etc.  The photo shown above is only about half-way through all the probes and sensors he has to wear.

The best case scenario is that the doctors find that Samuel doesn’t need any oxygen anymore and he sleeps perfect.  We expect they’re going to say he doesn’t need the oxygen, but likely will have some sort of sleep apnea.  I think he’ll have to do another sleep study soon to be fitted for a CPAP machine.

He did one of these sleep studies a few months ago.  I went to that one with him down at one of Stanford’s facilities in Mountain View, and it didn’t seem like he slept all that well.  They showed he didn’t really need any more oxygen at night, but he did have lots of pauses in breathing during the night.  This is known as Apnea.  So we’ve kept him on oxygen at night.  this is why he has those rosy-red cheeks.  We take the stickers off each morning that keeps his oxygen connected to his face at night.

We expect to get these results in about two weeks.  We go to see Dr. Newaskar, his pulmonary doc, again on March 23rd, so hopefully the results will be back by then.

If I get another picture from Kristen I’ll post it.  Kristen reports he’s really happy right now and very talkative to the nurse hooking him up.  Good boy!

Anthem Helicopter Appeal – Update

Anthem Helicopter Appeal – Update

If you’ve been following our journey through insurance claims associated with the boys, most of them have been handled quite fairly.  But there was one (and now a second one that I’ll cover separately) that was handled quite unfairly.  This was for Samuel’s helicopter transfer from John Muir Walnut Creek to Lucile Packard Children’s Hospital in April, 2017.

Today I received a phone call that said there was “new information” related to the appeal, and it’s been re-evaluated and approved.  This was for more than $34,000!

History

(Insert magic harp music with water-drop dissolve to go back in time)

Samuel was transferred from John Muir to Lucile Packard on April 5, 2016 after his respiratory activity was rapidly deteriorating.  The doctors at John Muir couldn’t figure out what was going on, and the respiratory specialists that were needed just weren’t on-staff.  The closest hospital that had these people was in Palo Alto – a 50-mile drive from our house.  So after conferring with doctors and nurses at John Muir, who conferred with their colleagues at Lucile Packard, the decision was made to transfer Samuel quickly.

The doctors at Lucile Packard thought the situation was dire enough that they sent their air ambulance to get him, and he made the ~20-minute flight across the Bay.  He was immediately intubated upon arrival, sedated and quarantined.  It was later determined he was very sick.

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He looks all puffed up from the IV. He has the ventilator down his throat, and many of the other tubes and wires are into his PICC line, or a central line used for drawing blood, giving medicine and feeding him.

When the medical claim was filed, Anthem, on behalf of my prior company, determined that the transfer was for a genetics evaluation and not anything urgent, and therefore they denied the claim.  We went through three levels of appeal, providing more than 30-pages of medical information, notes from NICU Medical Directors at both hospitals, and other materials, only to have all the appeals rejected.  All found the same thing:  his transfer was for a genetics evaluation.

Doctors at John Muir said in their statement that they never would have asked to transfer Samuel for a genetics evaluation, and the doctors at Lucile Packard also stated they never would have approved the transfer.  Doctors just don’t transfer patients for genetics evaluations.  Yes, he needed a genetics evaluation, but it was never a factor in his transfer, and was the furthest thing from our mind.

After all the appeals, it went to an “independent third party reviewer” – selected by Anthem, of course.  Surprise, they found in favor of Anthem for the exact same reason!

A few weeks ago I sent a note to the benefits leader at my former company, asking him to personally review the case and the notes.  My claim is that Anthem and the third party failed to consider all the facts, and never did proper due diligence.  They never called the doctors involved, despite my insistence they do so, and never took steps to clarify things.

I got a note back saying that Anthem’s work was done properly and they weren’t further reviewing this.  I made one more reply to them asking them to take action, or my next stop was the CEO.  I have a draft note already completed.  I’ve also been working behind the scenes with a TV station in the Bay Area about this, and they’ve been drilling Anthem on this as well.

(Insert magic harp music with water-drop dissolve to come back to present day)

This morning, Anthem called and said they received new information, and now the claim was re-evaluated and the rejection was overturned.  I’m to get a new Explanation of Benefits (EOB) and we should see this be paid in full by Anthem.

I’ve asked what the new information was, but they’re going to need to research this and get back to me.  Perhaps I should let this go, but I’m really curious what made the difference.  I don’t think there was any new information.  I think they finally looked at everything that was submitted after the benefits department at AECOM forced them to.  I hope this is what happened, and I can say “thank you” to them.

I won’t count my chickens on this until I receive paperwork showing it’s paid and behind us.  And then we can focus on the last appeal – for another ambulance ride for Sammy to return to Walnut Creek from Oakland following his surgery last February on the day Charlie died.  The insurance company paid 50% of the $18,036 bill.  So now we’ll work to get the final part of this paid and behind us.

In closing, if you have an insurance claim that’s legit, don’t let the insurance companies get away with screwing you over.  I knew our claim was legitimate, and persistence in trying to do the right thing seems to have paid off.

 

 

6q26 Micro-deletion

Hi everyone.  Today’s post is going to be a bit of a long one.  I want to explain something in detail to our friends and family, but also want to make sure I document it well for my own reference in the future.  I also hope this contributes to the medical community, or other parents, who may have a similar thing their child is going through.

Early in January, 2016, one of the doctors at John Muir suggested that we may want to get a genetics test for Samuel.  They were concerned that he wasn’t pacing as quickly as Jacob or Charlie, and they thought a genetics test would be helpful to rule in or out some things.  So they pulled some blood on January 20th and sent it away for a genetics test.

The results took about three weeks to come back, and Dr. Tran finally got them on February 9th.   We learned about this as Samuel was in his PDA Ligation surgery.  Of course that’s the surgery that not only fixed his Patent Ductus Arteriosus, but also paralyzed his vocal chord.  We took her call literally while Samuel was under the knife inside the Benioff Children’s hospital.  Kristen and I did the call on my iPhone speakerphone, in a courtyard behind the hospital.

In short, Dr. Tran shared that Samuel had something called a genetic “micro-deletion”.  As you may expect, a “micro-deletion” means there’s a small amount of DNA that’s missing.  Originally she referred to a broad name of a PARK2 gene, but we got very specific information a bit later.  Officially, Samuel is missing 351,219 base pairs in Chromosome 6, sub-section 26.  We know this as a 6q26 micro-deletion.

The blood test results that came back show the following:

arr [hg19] 6q26(162,510,973-162,862,192) x1

Heres the breakdown of this reading:

arr – This indicates a chromosome Microarray test was performed

hg19 – This refers to the version of the human genome that was used for the test.  As the genome is mapped, more information is available, allowing more exact results.

6 – The chromosome

q26 – The section where the missing material should be

162,510,973-162,862,192 – This is the “from” and “to” material that’s missing.

x1 – This means there’s just one copy of base pairs on each side of the chromosome, as you’d expect.

Genetics 101

screen-shot-2017-02-08-at-2-17-05-pmI’m not billing myself as an expert, but I’ve done a fair amount of research on this topic the past year, looking for answers.  As such I’ve learned a lot.  Of course you may remember from biology class that each human typically has 46 chromosomes.  23 are from the mom and 23 are from the dad.  The last chromosome, Number 23, is an X from the mom and either an X or a Y from the dad that determines what sex you are.

Within each chromosome, there are base pairs of DNA.  These are the building blocks and instructions that tell the body what to do, how to grow, etc.  There are about 3,000,000,000 (3 Billion) base pairs in each person, spread across those 23 pairs of chromosomes.  If you just focus on chromosome 6, there are approximately 171,000,000, or about 5.5% of all the DNA in your body.

Chromosome 6 is also broken into two “arms”.  The short arm is called the “p” arm, while the long arm is called the “q” arm. (In case you’re wondering, “p” was chosen as an abbreviation for “petit”, while “q” was chosen because it’s next in the alphabet.  Makes little sense to me, but whatever.)  The short backstory is that the gap between the “p” and “q” arms is where the chromosome is attached to the spindle during cell division.  Let’s not get too medical and just leave it there.

Samuel has his micro-deletion on the long-arm “q” section of chromosome 6, in a sub-section known as 26.  There are only 27 sections on this chromosome, so he’s missing some DNA on the far end of this arm.  351,219 base pairs sounds like an awful lot of missing DNA, but remember this is out of 171,000,000 base pairs in this chromosome and 3 billion overall.  Specifically, Samuel’s deletion is from base pair number 162,510,973 to 162,862,192.

So what does all this mean?

We’re not entirely sure what all this means yet.  I’ve joined groups on Facebook for those who have deletions, and I’ve searched the Internet extensively to see who else is missing this.  We’ve talked with a couple geneticists and Samuel, Kristen and I submitted some blood for extensive genetics testing (called Whole Exome Sequencing).  Frankly, Kristen and I may end up learning things in this test about our own bodies that may be forecasting future problems like cancer, Alzheimer’s Disease, etc. So we’re a bit frightened to see what comes back.

The blood test results we should get in March will hopefully have some answers, or at least be able to further narrow things down, or be able to tell more definitively what we may have to deal with going forward.

There are all sorts of other children and people who are missing sections of 6q26, though the deletions are much larger (i.e. millions or tens of millions of missing pairs).  We’ve also seen examples of people who are missing multiple sections (i.e. 6q26 + 6q27), or who have duplicate genes too.  There are many different mutations that we’ve seen. But we haven’t found anybody who has such a tiny deletion, nor have we found anybody with the exact deletion, or reasonably close to the overlap.  I posted the specifics on this page in case somebody comes across this and has something similar with themselves or their family.  We’d love to talk with you!

Obviously the most interesting thing that Samuel is coping with is his Hypotonia, but since he’s still developing and can’t talk to us yet, we’re not sure what else we may be in store to deal with.  We’ve seen others with 6q26 deletions showing symptoms of Autism, inability to speak until various age ranges from 3 or 4 all the way up to not being able to effectively communicate into high school.  We’ve seen people who have some deletions who can’t go to the bathroom, have motor skill issues, etc.  So we’re not sure what we’re in for.

For now, we continue to work carefully with Samuel on his physical therapy, occupational therapy and speech therapy.  He’s showing great signs of progress almost on a weekly basis.

If you know something about this micro-deletion, or know of somebody who has something in 6q26, please feel free to contact us directly.  We’d love to hear what your journey is or has been, and happy to share what we know at this point.

Sammy gets Speech Therapy

Sammy gets Speech Therapy

On Tuesday, Samuel went to visit his new speech therapist, Heather, and then he went to visit his physical therapist, Laurel.  This was his first visit to speech therapy.  It just took a really long time to get the appointments set.  But Kristen reported that Heather was great, and his first therapy is to start gnawing on dried fruit.  He’s not in any danger of biting the mango you see in the picture, but it gives him the exercise of biting down and manipulating the mango with his tongue, getting the tongue into different areas of his mouth.  We also need to work on his gag reflex, which is a bit too far forward in his mouth.  That’s somewhat expected since he doesn’t get a lot of food in his mouth.

Kristen said that Sammy had a great workout with Laurel too.  He sat and stared into her eyes for a while.  Sammy is hit and miss at PT, since he can get easily tired and very, very cranky.  But he had great energy today.  He’s had great energy yesterday too.

We’re moving him from five feedings to four feedings per day, and this is the last week of five feedings.  Starting next Monday he’ll be fed at 6:30am, 10:30am, 2:30pm and 6:30pm, and he’ll get 205mL per feeding.  That’s 820mL per day, or almost 28 ounces of formula.  He’ll also continue to get some baby food by mouth three times per day.

In Jacob news, we officially have a pretty good walker on our hands.  He’s able to move his way around the living room pretty easily. He loves playing chase around the couch now, and he loves to chase Sophie around the couch.  He’s still a little  unstable and we’re not quite ready to take him on a walk outside, but we should be able to do that very, very soon to see how he does.  He still prefers to crawl sometimes, especially if we’re showing off his talents to others.  That little stinker!

That’s it for now!