Checking the place out…

Haven’t been here in a while, looking around, checking things out. Yep.  Everything is still here.

As hoped for, we are at a point where your medical crises are fewer and farther between.  This frees up some space in my head to think/worry about other things, which is nice.  We have made a couple of major changes/course corrections during the last couple of months, which I think I should document.

First – to hearing aid, or not to hearing aid?  That is the question.  At one point, we thought we were going to take the plunge; as it stands, we are waiting indefinitely until you are old enough to actually take a hearing test and raise your hand when you hear a sound (would this be around age 2?  I’m not sure).

Second – digestion.  I think we have this worked out (no pun intended) a little bit better.  We’re easing off the miralax, and ensuring you get 6 grams of fiber every day.  We give you a breakfast bar with 3 grams every morning, and try to give you high fiber snacks to get another gram or two in you every day, and then figure the last gram comes from your “regular” food.  You are drinking much less milk now, so that may have helped as well.  We’ll probably still need miralax periodically, but right now we’re giving it to you every few days, rather than every day, which is humongous progress.

Even though, at sixteen months old, you’re starting to get the will of a toddler, you are still a joy and a delight to me Miss M.  Always so full of smiles and humor.

Genetics Update

Miss M’s latest genetic test was negative, meaning they didn’t find a mutation in the specific gene they sequenced (GDF6), so they still have not found a genetic cause for her Klippel-Feil syndrome.  There is one other genetic mutation (GDF3) which has been associated with KFS, but clinical testing for this is not available in the US.  And, of course, there are likely many unknown genetic mutations which could lead to KFS.

Our only other option for genetic testing right now would be to do whole exome sequencing.  Since KFS is pretty well defined as her “diagnosis”, there is really no pressing need to do further genetic testing so we will probably just keep that in mind for some point in the future when the tests are better and less expensive, just for her own peace of mind.

Time to add a new specialist

Your dad and I have been ignoring something for a few months.  Not really ignoring, but just not quite ready to take care of it.  But, it’s time.  Oh, if you’re reading this and are NOT already a parent, beware – you have no idea how often you will discuss your child’s bowl movements in the future.

So, Miss M has a chronic problem with constipation.  It began as soon as I stopped supplying breastmilk, when you were around 8 months old.  We tried cutting out everything but formula, prune juice, and pureed prunes, and you were still constipated.  So, reluctantly, we started giving you Miralax.  Through a lot of trial and error, we figured out that you needed a dose every 5-7 days.  Over the past months, we’ve seen the craziest things – I won’t give details here, but let’s just say you have a serious issue and it causes you a lot of pain and frustration at times, and it can go on for days.  And you don’t eat very well when you are constipated, and weight gain has always been an issue for you, so this is another serious side effect.

Now, you are drinking whole milk, eating a few more solids, and your constipation is even worse.  We’re still working through the trial and error process, to figure out what dose you need now, but I’m guessing we’re going to be giving you Miralax every day, or at least every other day.

And, we know it is time to start seeing a GI specialist.  Just to rule everything else out, see if the specialist has any other feeding or diet modifications that we might be able to implement to make things a little easier for you.  We haven’t heard of any GI abnormalities being associated with KFS, but who knows.  I think this is the last major organ system that we haven’t had checked by a specialist yet, so it is time.  As the nurse for our pediatrician said on the phone last week, when I called to talk with her about it, it’s probably a good idea to establish a relationship with the doctor, so when future problems come up, we have a baseline.  It’s funny, how we naturally assume we will have to see a GI specialist, at some point.

Your current specialist log, as of August 2012:

1. Craniofacial surgeon (every 6 months, between surgeries)
2. Neurosurgeon (every 6 months, between surgeries)
3. ENT (every 3 months)
4. Orthopedist (every 6 months)
5. Cardiologist (every year – yeah! used to be every 3 months)
6. Geneticist (every 6 months)
7. Craniofacial orthodontist (saw regularly during your first 5 months before your lip surgery, now we won’t see her again until you’re school-aged)
8. Opthamologist (saw once, no followup!)
9. Dentist (technically, everyone should see a dentist every 6 months; Miss M’s is part of her cleft team and specially trained to work with kids with craniofacial differences)
10. GI specialist (to be added – hopefully we won’t be on a regular follow up…)
11. Physical therapist (weekly)
12. Speech therapist (2x a month)

If you are counting, that is 16 specialist appointments during this coming year, not including therapy visits or standard well-checks at your pediatrician.  I haven’t counted the number of appointments you had during your first year, though I’m tempted to.  Just as a “Wow, we did that, that is where our year went”, kind of thing.  But, nah, I’m just going to keep looking forward.  Year Two, surgery-free, but lots of people still want to keep their eyes on you.

Early Intervention

I’ve written before about my strong belief in early intervention.  But, actually, today I’m talking about the formal program, Early Childhood Intervention.  Your Dad and I pay nothing for these services.  Depending on your family income and other factors, there is a “family cost share”, but that amount is covered by our medical insurance.  It is a “state and federally funded” program.  Like Medicaid, or similar social services programs.

At first, I thought maybe this wasn’t the place for us.  We could afford to pay for these services on our own, though obviously that money would come from either our retirement or college savings for the kids (sometimes I view money like the ball under the cup of a street magician – slide the three cups around really fast and guess which one has the ball – lift it up – no? – lets slide them around the table again and move the ball into a different cup).  And I have to say, being a perfectionist, I always wonder if there is something “better” out there.

I’ve spoken with people recently who paid for these services on their own, and in fact, we did meet with a specialist physical therapist who is a PhD and professor, in addition to running her own clinic, and did pay for her services (friend of your Nana and Papa’s).  For various reasons, our insurance did not pay much of that visit.  It’s amazing how freeing it is to obtain the services your child needs, rather than considering the cost/benefit of every visit.  Because, even though we could afford as many visits as she needed, we’d be considering the cost/benefit each and every time.  Adding to our stress.

Right now, Miss M, you receive both physical and speech therapy through these programs.  Physical therapy is once a week, speech therapy is twice a month.  You’ve been in physical therapy for about 7 months, but have just started in speech.  Results from physical therapy, so far, have been fantastic.  Even though you are getting very close to walking, you are still continuing to develop upper body strength because of the therapy.  So, even though you aren’t crawling, I continue to see you become more comfortable and stronger when on your hands and knees!  All of this work will pay off later when you have a strong core and upper body to support your fragile spine.

One year ago today

Today is Miss M’s first birthday.  Last year at this time, I was sitting in a cold movie theater on a hot day, watching some forgettable action flick with your dad.  Your brother was at school, and your grandma was at our house.  We were due at the hospital at 3pm (me without food all day – hence the daytime movie date for distraction) for our 5pm scheduled c-section.

I’d really wanted a VBAC – well, sort of.  I felt like a VBAC was the right thing to do, but honestly I was scared of laboring after the experience I had with your brother.  I do not think, without modern medicine, your brother would have made it out alive.  We found out after his delivery that he was growth restricted and my placenta was 1/3 average size.  He was also almost 2 weeks overdue.  The attempted induction, followed by a dramatic emergency c-section with a nurse holding the monitor against my belly as I was unhooked from the walls and wheeled to the OR and prepped, waiting for his heart beat to recover after a contraction, with the anesthesiologist literally running down the hall -yeah, I didn’t want to repeat that.

So, when we found out about your clefting at our 20 week ultrasound, at first, we thought this wouldn’t change our labor plans.  But at the end, as I neared 40 weeks, we’d had one or two lower than normal growth scans, and one not so great non-stress test, and my doctor was getting nervous about my going overdue again.  So, we talked, and I agreed to a scheduled c-section the first business day after your due date, when I was 40 weeks and 3 days.  We did everything possible to get you out the week before – walking, stripping membranes – you didn’t budge.  I remember the voices in my head just screaming as I was being prepped for the surgery that afternoon – NO.  Wait.  I want to try an induction.  This isn’t right!  But at that point, it felt like I’d past the point of no return, multiple doctors and a whole staff of nurses was preparing to do the surgery and bring our baby into the world.

And, as it turns out, that was the best decision we could have possibly made.  I’m assuming other KFS babies have been delivered “naturally”, since c-sections haven’t been around forever, but I’m also certain that it leads to a long, hard, risky labor.  Your cervical spine and shoulders simply can’t move the way they would have needed to during delivery.  I’m sure we would have gotten you out, some how, but given I’d had a previous c-section and recovered fine, I’m now certain this was the way to go.  It’s strange, b/c that was the only moment during the last year when my instincts have been wrong.

The grief pit

Some days I still feel like I can’t climb out of the pit of grief.  Instead, I dive into it, using blogs, facebook, scifinder (yes, I am a scientist!), other internet resources to seek out more information about Klippel-Feil syndrome, about parenting children with special needs, about how to do this.  And I find amazing things on some days.  Today, I found another mom to toddler baby girl with an even rarer genetic condition which caused congenital structural deformities.  I glanced around her blog, surprised to see some of the same topics I’ve posted on here.  Wow.  We’ve had some of the same experiences.  Fantastic!  Ok, not fantastic, but you know what I mean.  I also did some looking into the genetic tests that are being ordered at your next surgery.

But somehow, after indulging myself, letting myself do a little “mom of a child with extra medical needs”, I just feel sick afterwards.  Like I’ve had 3 too many glasses of wine.  Too much, too fast.   It sure was “fun” while I was doing it, but where did those two potentially productive hours go?  I shouldn’t even have those two hours to spare – web surfing while my kids are at daycare.  Let’s not even talk about the work I’m supposed to be doing.  So I get this lovely combination of emotional overload, due to the nature of what I am browsing, and guilt, due to feeling like I have so many more important things I need to be doing.

This happens often on days when I spend part of my normal working hours with Miss M at a medical appointment.  Today it was Early Intervention.  Two hours of discussion of your milestones, your goals – should be every mother of young baby’s goal and dream in life!  Instead, even though you are doing great, it just ends up leaving me drained, with the subprocess running in overdrive.

 

Following my instincts

The funniest story I heard about “following your instincts” as a parent was when a friend was trying to get her husband to have a more instinctual way of soothing their newborn son.  She handed their crying newborn to her husband, and asked him, “what are you instincts telling you to do”, fully expecting to hear “I should bounce him” or “shhh” or something along those lines.  Instead, he said, in a panicky voice, “hand him back to you?”  Ah.  Dads.

My mom instincts are generally in overdrive with you, Miss M.

This morning your dad took you to the orthopedist for a 6 month follow up.  The orthopedist said you were progressing great, he was really impressed with how well you have done in physical therapy (which he recommended against…).  A second set of x-rays show that you are likely fused C1-C2 and I think it was C6-C7 but you may have some “mobility joints” in between – we’ll continue to get x-rays to monitor whether those spaces open up or not as you grow.  We were worried about your arm range of motion, but he thought it was pretty good, he didn’t see any anatomical issues (that we didn’t already know about) except maybe a slight Sprengel’s deformity on your right side, which might explain some of the decreased range of motion on your right side.  Sometimes they do surgery on Sprengel’s, but he said it is mainly done for cosmetic reasons, and the outcomes were often not great and left a lot of scarring in that area (which is consistent with what I’d read online…). But the main reason your arms have slightly decreased range of motion is because the muscles are attached higher up on your neck because of the KFS.  Everything is just tighter…which is why we will be continuing physical therapy.

This orthopedist is the individual who first diagnosed you with Klippel-Feil syndrome.  And then told me nothing about how the syndrome will impact your future abilities, and specifically recommended against physical therapy.  My instincts did not accept this limited answer to the many questions I had.  I guess I expected that when you get a diagnosis, you get a handout on that diagnosis listing associated conditions, complications, treatments, support groups, etc.  Maybe not all of these things but some information at least, right?  Not so, in the case of rare diseases.  When I asked where I could get more information, they sent me to a general orthopedic society website.  Not exactly comforting, to know that you doctor doesn’t have any answers to your questions – “see you in six months.”  In six months, she’d have missed multiple major developmental milestones – rolling over, sitting up, and crawling.

Instinctually, I knew we could do more to help you.  So we sought second opinions.  The other pediatric orthopedists said the same thing – just wait and see.  I knew we could do more.  So I kept asking every doctor we saw, what they thought, what should be done, who should we talk to.  Finally, someone suggested we see a neurosurgeon.  I put in a call to the neurosurgeon’s office, and went through a lengthy explanation of why I was calling.  I could tell the nurse practitioner was uncertain about whether to make an appointment for you or not, so she told me she’d call back.  After talking to the surgeon, she made an appointment.  A few weeks later, I again felt like I had to justify why we were taking up this appointment slot. But the neurosurgeon was understanding, provided his opinion that she should have physical therapy, and said, you know, while you are here, it is probably a good idea to refer her for an MRI and just make certain nothing else is going on with her spinal column.  And that was the MRI that diagnosed your tethered cord, so we were able to get you in for surgery when you were 6 months old, rather than discovering incontinence and neurological damage when you were older and it was too late.

Seriously, one of my proudest parenting moments.  I knew that wait and watch was NOT the solution.    And now, 8 months later, you have had your cord detethered and have had 5 months of physical therapy, making you a rolling, scooting, and now even pulling-up, machine of a little 18 pound baby.

woe is me

I’m definitely struggling a bit right now, with the palate surgery scheduled and the count down begun.  The unfairness of what you have to go through, my sweet, just weighs on me some days more than others.

I spend a lot of time every day thinking about you, and your future.  That means I’m not as good at getting other things done in my daily life, which just adds to the life stresses and pressure, when I’m not getting the things done at work and at home that I need to.  And I spend a lot of time mentally beating myself up about that, how much I suck that I can’t seem to focus and accomplish things and that I just use you as an excuse.

I know I need to be kinder to myself.  Because the fact is, I am a different person now than I was three years ago.  It’s hard to define how I’ve changed, exactly.  I think having a child with medical challenges is an extreme parenting event.  When you become a parent, you know there are going to be changes in your priorities, in your preferences, in your behaviors.  These changes happen again, another order of magnitude of change, when you become a parent to a child with medical challenges.

I think, ultimately, I’m still grieving the loss of a “perfect” daughter.  I don’t mean to imply that I would love you more if you didn’t have medical issues – that is entirely not the case.  You love your children for who they are and what they represent – your bond with your spouse.  You have the most amazing, lovable personality, and both your dad and I love you to pieces.  But I am still working through my grief over how this syndrome is going to affect you.  You will have physical and emotional scars from the surgeries, the spinal deformations, and from just being different.  I’m still processing your lifetime of being affected by Klippel-Feil syndrome; apparently ten months has not been enough.  So, we’ll continue to learn, and grow, and stretch our hearts to accept this grief we have been given, until the grief becomes something we rarely notice anymore.

 

We’re all related

I’m beginning to feel like a total genetic FAIL has occurred in my lineage.  Maybe someday we’ll figure out why.  If we do, I don’t think it will be any thanks to our current geneticist, who told me in all seriousness at our last appointment that folic acid supplements would not fix Miss M.  Reeaaallly.  No, incredibly intelligent woman who has totally lost touch with reality, I’m well aware that a dietary supplement will not change Miss M’s structural congenital defects.  I’m not an idiot.  I was trying to ask whether there was some chemical processing deficiency on my part (and my mother’s part) which led to my congenital cleft lip (2 surgeries), my only sister’s congenital club feet and femoral anteversion (4 surgeries), and now Miss M’s KFS (2 surgeries and counting).  For the record, I took ~4 mg/day of folic acid at least 3 months prior to, and during the first 2 trimesters of, both my pregnancies (these types of congenital defects occur during the first 6-12 weeks of pregnancy).  My son doesn’t appear to be affected.  So it’s just us lucky ladies in the family!

My sister, who will be 39 years old this summer,  found out yesterday that she has yet another congenital issue – a specialist has diagnosed her with distal muscular dystrophy.  Ironically, you, Miss M, started her on this search to find answers to explain the muscle weakness in her legs, which has affected her since childhood.  Now she has a motivation to join a gym again!

Families have a way of creating stories to explain “how things are”.  My parents generated many stories.  One of them was that my sister’s leg weakness was because of her surgeries on her legs.  I don’t know if a doctor ever told them this, or not.   But that was their story, and they were sticking to it.  I’d love to be a fly on the wall this weekend when my sister finally reveals this information to my parents in person – she’s been keeping them out of the loop until she had some actual information on her condition.

Also ironically, our geneticist with the terrible bedside manner was the one who woke me up to the fact that our family story was not true.  At our last appointment, she asked if my sister had ever had an MRI.  Total lightbulb moment.  She didn’t even know that my sister has leg weakness (a possible symptom of a tethered cord), I had just reported her club feet and leg structural issues in our initial medical history, believing the family story that the rest was just a result of that.  In an instant, I immediately realized – that’s not right.  Sister does have something else going on.  Maybe she could have an undiagnosed tethered cord?  I called her that evening, and she had the same lightbulb moment and realized she needed to figure out what this was.  About 6 weeks later, she finally has an answer – not necessary the answer we expected, but an answer nevertheless.

And…I’m left with even more questions.  The genetics journey* is still at its start.  How in the world could 3 members of my family have seemingly unrelated congenital defects?  I hope there is someone out there who can help us find out.

* another funny story about our geneticist – when we tried to ask questions about Miss M’s KFS at our first appointments, she took a deep breath, kind of sighed, and said, “think of this as a journey”.  I’m not a violent person, but it took a heck of a lot of willpower to not slap her!

Judge, Much?

I’ve had a very judgmental moment and am trying to reform.  I visited the blog of another family with a young child with KFS, and saw that they were trying to raise funds for their child’s medical treatment.  The total amount they needed, to cover the last 2 years worth of copays and deductibles (they did have medical insurance), was the equivalent of about 2 weeks of my family income (pre-tax).  My immediate first response was to judge.  I admit it.  I wondered why they had another child if they couldn’t afford what I thought were pretty minor medical costs?  I thought the “average” American family would have at least that amount in their rainy day savings?  Or at least could conceivably pay off that amount in within a year or two, by cutting back on other financial choices? What financial choices had led them to this place?

Financially, our family lives very conservatively.  The compelling argument in our family for not having a 3rd child is that we wouldn’t be able to afford a healthy, happy retirement AND college for all 3 kids.  So we’re sticking with 2.  We generally buy 1-2 year old cars and drive them for 10+ years.  Our mortgage payment is about 1/4 of what a mortgage broker would approve us for.  We saved hard for our retirement before having kids so that we could relax a bit now.  We stymie financial planners, since they have nothing to offer us, ha, ha.  Point being, we live well below what we could afford.  Luckily, that is still a comfortable amount, since we have 2 working adults.  But obviously, we still make some important sacrifices for financial security.  For us, the result is that our finances haven’t taken a major hit, even though we are likely to reach our out of pocket max on medical insurance every year for the next 20 (+?) years.  So the thought of having to ask strangers, or even family, for financial help has never even crossed my mind.

I am so grateful for medical insurance – I know we would be totally screwed if we DIDN’T have coverage.  Ironically, I’m totally for health coverage for all – the public option, if you will.  In principle, I want everyone to pay for everyone else’s medical care.  Why was I so judgmental about this one family’s unconventional method of getting co-insurance for their child?  In theory, I’m willing to pay for anyone’s medical expenses.

Maybe ultimately it comes down to fear.  It makes me so frightened to think of not being able to afford your medical care, Miss M.  If for some reason, at some point, laws change, you are held to a pre-existing condition clause – wow.  Our lives will change, not just the emotional, physical, and mental challenges we’ve had to endure so far, but also financially.  Everything we’ve worked so hard for will be gone, in an instant.  That fear is incredibly overwhelming.  I just sit here, kind of letting waves of it pass over me, imagining that possible future.  Such a helpless feeling.

So, I’m going to try to reform, in a “pay it forward” kind of way.  Fellow family with a young child with KFS, this stranger will support your cause and hopes my small contribution will help ease your worries and fears for your child.  Because I truly do believe that how to pay for your child’s medical condition should never be something that you should have to worry about.