Monday, December 31, 2012

In the beginning...

A friend asked me a question today that had me looking back through early pictures of Anabelle to find the answer.  I realized, as I did it, that we had never really publicly shared those images of the early days.  Anabelle spent the first two months of her life in the NICU at AI Dupont Hospital for Children, and, as first time special needs parents, we didn't know how much to put out there.  Would it scare our friends and family to see our baby hooked up to a bunch of machines?  Would they be uncomfortable, in those early days, when we still didn't know what was wrong or what the prognosis would be?  Would it turn out that some people in our lives would not be as accepting as we thought, would make fun of our daughter's tiny head, or be repulsed?  These are the kinds of things that ran through my head back then.  Before Anabelle made me brave.  Before she made me strong.  Before I knew any other special needs families or had any idea how gorgeous and amazing she and her friends were.  Before I knew how much everyone in her world would fall in love with her.  A friend reminded me today that Anabelle's name means "easy to love".  We sure hit that nail right on the head!

And so now, for the first time, I give you: Anabelle's first 60 days...

Minutes old.  At this point, we still have no idea that there is anything at all wrong with her.

Hours old.  The madness begins.  Seizures force immediate transfer to AI Dupont.  I was discharged 12 hours after giving birth to follow her

One day old: first EEG

 First time Daddy gets to hold her

 First time we see eyes

 Three days old.  This was D-Day (that's diagnosis day for those of you without SN kids.  A day you will never forget)

 In the beginning, Anabelle was snowed with anti-seizure meds.  She was only awake about an hour in a 24 hour day.  This one was at 3 am...

 Clasping hands

 The first time she wore anything but a hospital gown.  18 days old

 Nothing like a super tiny baby to make a postpartum mommy feel huge!

There was a complication with Anabelle's gtube surgery that required a second, open belly surgery.  We couldn't hold her for weeks.  P.S. if you are interested in what 2 1/2 years of SN parenting does to a person, compare this photo with one of me today...

 The chunk begins...

 After weeks of oral therapy, finally has SOME suck reflex

Cozy monkey

The nursing staff says goodbye, exactly 2 months old, finally heading home

 One of my favorite pictures of all time.  Sissy helps Daddy bust the baby out of the hospital

Tomorrow we begin a new year, and one in which my family is still all together.  I know now what these photos will mean to those in our life, how they will be received and treasured.  Happy New Year, friends!  Looking forward to many more memories in the new one...

Friday, December 28, 2012

Questions with no answers

Yesterday we had a meeting with Anabelle's new rheumatologist to review the findings of her CAT scan, MRI and blood tests regarding the calcifications in her limbs.  It was disheartening, to say the least.  The condition has been officially defined as "Calcinosis cutis", but that only tells us what it IS, not what is causing it.  All testing has come back negative for any autoimmune disorder that would cause it.  Dr. Dobyns, the leading expert in lissencephaly, was contacted, and he says he has NEVER seen this in another liss kid.  The doctors are totally stumped.  The only thing they can suggest is to treat it like similar disorders, all of which we know it is not, and all the treatments are risky.

The first option, which would hopefully help finally diagnose what is going on, would be a biopsy of the muscles.  It would have to be a large and deep section taken from muscles that appear inflamed, which is what you would find as a result of several possible candidates for disorders.  The problem is, the MRI showed that the only area that might POSSIBLY be inflamed was the upper buttock.  The rest of her legs are so atrophied from disuse.  So are they actually inflamed?  Or are they just the only muscles with any tone whatsoever, because we lift her legs up and down all day long changing her diaper and dressing her, etc.  Anabelle spends 99% of her life on her back.  She cannot tolerate being laid on her stomach.  So we would have to take a large section of her tush, then have her sit on it.  This makes infection an almost certainty.  And even if we take the biopsy, there is no guarantee that there would be anything to find.  The doctor did not recommend this course of action

The second option is to hit it with a high level of steroids.  8 weeks of them, in fact.  This would suppress the immune system and hopefully the body would stop thinking there was trauma that had to be covered with the calcifications.  As any of you familiar with lissencephaly know, Anabelle's immune system is ALREADY weak.  The steroids would also weaken her bones permanently.  As those of you familiar with quadripalegics know, Anabelle's bones are ALREADY weak.

A third option is a biphosphate infusion.  This is something that is used in osteoperosis treatment, and the chemical helps return calcium to the bones.  It has been successful in a case study of calcinosis cutis.  One study.  Oh, and it ran for 5 years before seeing benefits.  Oh, and you need to do the infusion once a month. Oh, and it needs to be inpatient.

There are also a few other options of a number of drugs that have shown SOME benefit in SOME case studies.  Nothing definitive.

Final option is to do nothing.  As of right now, they do not appear to be bothering her.  However here are possibilities for what COULD happen:

- They could continue to pile on her limbs, eventually squeezing on the veins and restricting blood flow.  It has already been noted that they are progressing at a rapid rate and the skin has started to adhere itself to them

- If they start growing in her torso, they could strangle her lungs and other organs

- If the calcifications start breaking down, they will form ulcers on her skin that will break into large, gaping wounds

The doctor presented all of these options to us, then kind of looked at us and goes, "I have no recommendation for your daughter.  We'll do whatever YOU want to do."  Palliative care was suggested.

After polishing our medical degrees, Brian and I decided the first step is for a second opinion.  The doctors at Dupont were openly telling us that they were stumped.  The least we can do is try to find someone with a little more confidence in suggesting a path for moving forward.  Anabelle's quality of life has not decreased in the slightest.  Until we see any evidence of suffering, we are not satisfied with "There's nothing we can do."  The journey continues...

Monday, December 10, 2012

Lobster Girl

The thing about having a special needs child is that even when everything is "good", everything is not GOOD.    People ask all the time how Anabelle is doing, and I always say, "She's doing fine" or "Can't complain", and it's usually the basic truth, but the thing is that there is always SOMETHING going on, and whatever it is is usually more than a one-line answer.  Sometimes, what is going on develops so slowly that before you know it A LOT has gone on, and nobody knows a thing.

Such is the position we now find ourselves in.  There has been a medical situation going on with Anabelle for about 6 months now.  I have only mentioned it to a few people because it developed slowly, and we really had no idea what is was.  I kept waiting to have all the information, however, at this point, we still don't, and neither do her doctors, and as it has become a significant force in our lives, and it seems necessary to catch you all up...

This past June, we noticed a rash forming around both of Anabelle's elbows.  We couldn't figure out what it was from, but as it faded, it left behind patches of hardness under her skin.  A few weeks later, she happened to be hospitalized with the adenovirus, and we pointed out the patches to the doctors, who x-rayed them.  They were determined to be calcifications.  An endocrinologist came in and told us that calcifications at points of trauma were not uncommon for anyone, and perhaps it was her arm braces that were causing them?  He seemed relatively unconcerned.

Well, over the next few weeks, the calcifications started to spread up her arms.  We met with the orthopedist who said NO WAY were the braces causing this.  A few weeks later, they started sprouting in her legs.  While the ones in her arms stayed fairly small and contained, the ones on her legs spread like wildfire.  At this point a diagnostic specialist (paging Dr. House) had been brought on and gave it a tentative diagnosis of Ossificans Myostitus Progressiva.  Luckily for us, the leading expert in the country on this disorder (which affects 1 in every 2 million, apparently the 1 in every 100,000 of lissencephaly wasn't rare enough) is located right here in Philadelphia.  Following a CAT scan of the legs, though, he determined that this was NOT exactly ossificans, just calcifications.  We were referred to a rheumatologist to explore autoimmune diseases.

Usually invisible to the naked eye, when Anabelle's skin is heated post-bath, you can make 
out some of the areas where the calcifications lie.  
The red patches show it here, this was about two months ago, 
they have since spread

Picture, if you will, every rheumatologist in the hospital swarmed around your child, poking at her hardened limbs, pouring over the CAT scan and telling you repeatedly, "We've never seen anything like this."  The CAT scan showed that the calcifications in her legs were almost totally encasing them.  The word "exoskeleton" was used more than once.  Our daughter is turning into a crustacean, and the doctors are flabbergasted.  Look for "Anabelle Syndrome" coming soon to a textbook near you.

Her skin is stretched so tightly over the calcifications that you can see the pattern left by her socks

At this point, what they can say is that it does most closely resemble ossificans (although is NOT the same), and that they would like to treat it in a similar manner, because it is all they can think to do.  See, if they cannot stop the progress, it is possible the calcifications could start strangling the circulation in her legs, and if they start growing in her torso (which is NOT happening so far), then they could affect her organs.  So, sometime right after Christmas, Anabelle and I will be having an overnight in the hospital while she receives a treatment that sounds to be something of a phosphorus infusion (phosphorus being the chemical that works counter to calcium).  The hope is that this will slow the leaching of calcium from her bones.  We are not clear right now whether this will be a one time procedure, or something that needs to be repeated periodically throughout her life.  I guess it depends on the outcome.  It IS pretty certain that this will do nothing for the calcifications already present.

When Anabelle tenses her leg, you can see the skin rippling over the calcifications

So, here's the thing: we were ready for seizures, pneumonia, GI problems and sleep disorders.  We were NOT ready for our child's body to attack itself with ingested minerals.  We understand seizure meds, gtubes, pulse ox machines, EEGs, traches and catheters.  We do NOT understand the chemical warfare our doctors are preparing to launch on our child.  The complexities of this affliction, whatever it is, and the treatment they hope will work for it are so far above our heads that no matter how many questions we ask, at some point we just need to say, "Are we taking this leap of faith, or not?"  And that is really tough to swallow.  We have become pretty well educated in medicine for a building contractor and an art appraiser over the past two and a half years, but we have run up against a wall with this one, and it makes us very uncomfortable to not be fully confident in the medical decisions we have to make for our child.  We appreciate your good thoughts to help guide us through this in the hopes that we make the right choices...

Tuesday, October 30, 2012

"How do I explain?"

I was recently at a playdate with Elyse and Anabelle and about 20 other kids.  Anabelle was in her wheelchair observing the fun and enjoying the weather.  One of the other little girls came up to Elyse and asked, "Is there something wrong with your sister's brain?"  Elyse said, "No."  The little girl then came up to me and repeated the question.  I told her that there was not anything "wrong" with Anabelle's brain, she just simply worked a little bit different from herself.  Some people need glasses to help them see, some people need hearing aids to help them hear.  Anabelle needs a little extra air to help her breathe and a comfy chair to get around in (not to mention the gtube, but that wasn't visible at the moment).

Friends, I really and truly understand how difficult it may be for you to explain Anabelle's special needs to your children.  Were I not Anabelle's mother and immersed in a world of special needs families who have guided me in the ways to address Elyse about Anabelle, I may have used the same words to explain another child to her.  But, as I am in a unique position, I hope you will allow me to share some of the verbage I have acquired over the years.

First, the word "wrong" is just...well...WRONG.  Here is Merriam-Webster's definition of "wrong"

a : an injurious, unfair, or unjust act : action or conduct inflicting harm without due provocation or just cause
b : a violation or invasion of the legal rights of another;especially : tort
: something wrong, immoral, or unethical; especially :principles, practices, or conduct contrary to justice, goodness, equity, or law
: the state, position, or fact of being or doing wrong: as
a : the state of being mistaken or incorrect
b : the state of being guilty

None of these are definitions I am comfortable applying to my child.  I am especially uncomfortable with Elyse hearing her sister described as such.  Instead of "wrong" or "broken", please use the words "different" or "special".  For example:

"Mommy, what's wrong with Elyse's sister?"

"Well, Anabelle is a very special little girl, and she does some things differently from you and I.  She needs a little extra help with things that you can do by yourself.  You know how Grandma wears glasses so she can see better?  Well, Anabelle uses oxygen to help her breath better, and she has a special "extra belly button" so her mommy and daddy can put her food right in her belly to help her eat better.  Guess what she eats?  Baby food!  Just like YOUR baby sister!"

I know you all love Anabelle.  You would not be here reading this blog if you did not.  I know you would never intentionally say anything to upset us or Elyse.  The thing I would like you all to realize, though, is that Elyse has no idea that there is anything "wrong" with Anabelle.  The fact that she does things differently from the rest of the family means absolutely nothing to her.  And so when I hear other kids say things about something being "wrong" with her sister, I cringe.    I know she will have to face adversity in the future over her sister's condition due to ignorance and cruelty.  At this point, though, I know none of it comes from a place of meanness, simply from a lack of certainty as to how to address this topic with your children.  Hopefully this has cleared that up a little bit, and please, PLEASE, feel free to contact me if you would like to talk about it more, or if your child has questions that you don't know how to answer.  We want our friends, big and small, to be completely comfortable around Anabelle, so let us help you achieve that.

And, just for fun, the girls are ready for Halloween

Monday, October 1, 2012

Turning the World YELLOW

What a wonderful day, watching my Facebook wall explode with YELLOW for National Microcephaly day.  It has taken me half the morning to download all the photos I was tagged in so that I can repost them here.  As one friend said to me, "Kate your wall looks so beautiful with everyone wearing their yellow today..such wonderful support!! ♥ :)".  It truly is.  But my favorite part of yesterday was how many times I saw a comment under one of the tagged photos by another person asking, "What's microcephaly?" followed by an explanation from the photo poster on what the day was all about.  Folks is getting educated, people!  That's what it's all about!  Thank you so much for loving our girl and her friends as much as we do. xoxoxoxo