The Boston Children's Appointment that was not

Del's neurofribromotosis (NF) minimally effects her life. She has a bump here. A bump there. We recently started going regularly (every 6mos) to our local optometrist to closely monitor her eyes as growths on the optic nerve are common and most likely to effect her ability to function in life (ie she could go blind).
Since the NF diagnosis, Del's regular pediatrician has been saying that at some point, we should have her seen by an NF specialty team - the closest options being Boston or NYC.
Del is now 8, and it seems prudent to have her seen before she gets into full swing puberty as this is one of the times in life when neurofibromas tend to grow (the theory is, this is a result of increased growth hormone in your system).
I quickly said Boston as my preference because we have family and friends in the Boston area who we could stay with and it's a closer drive than NYC.

Del's appointment was scheduled for July 7th.

Coincidentally, Del's routine eye appointment on June 8th showed some swelling in her right eye, which lead to an MRI, which lead to confirmation that yes, she has a fibroma behind that eye. So phew! We already have this appointment in Boston. We'll figure out what the best course of action is then.

I received a letter from Boston Children's recommending I get the referral confirmation number so that I have no trouble with insurance paying. After some run around, my impression was that the appointment at Boston was covered, but there was no confirmation number - but don't worry.

After driving into Boston (about 4 hours to my brother's house where we spent the night, and then another hour into Boston) - did you read that? I'll say it again - after driving from rural NY ... as in, right near the Canadian border inside the Adirondack Park to Boston, I decided to call and confirm that everything was per-approved from the parking garage of Boston Children's. We'd arrived about 45 minutes early, so why not?

The poor call center person. I get it. Awful job to work for an insurance company answering these calls.
She read the long winded denial.
Request is denied because the patient can see a pediatric neurologist in state (in network), Boston is not necessary. There are pediatric neurologists in state.
I explained that it's not just an ophthalmologist, neurologist, and geneticist she needs to be seen by - it's necessary that these specialists also have expertise specifically in neurofibromatosis. And we're human beings. While it may work better in their system for us to stay in state - it doesn't make practical sense. Is the insurance company going to pay for a stay in NYC? The gas money to get there? Create some sort of support network when Del likely needs surgery which will require a stay near the hospital?

I called our pediatricians office and they got on the phone with the insurance - including Del's actual nurse practitioner - explaining that we are at the hospital in Boston.
The insurance company faxed over a copy of pediatric neurologist in NY - Syracuse or NYC - (4+ hours for Syracuse - never mind NYC), to be helpful.
The insurance company didn't seem to understand that more than a neuro specialist is needed - what about the geneticist, the ophthalmologist? They also apparently don't realize that they do cover these specialists in Burlington (an hour and a half away) - across a state line - and we've used those specialists before. What they failed to also see was that these specialists are not neurofibromotosis specific.

Nope.
Denied.

So we drove home.
What makes this hard, is realizing I was holding my breath until this appointment.
Del still has a fibroma behind her eye. We still need to figure out what the course of action is.

Dear Del :: 8 years old

Dear Del,
Aunty Chels wrote on a helium balloon for you on your birthday: "happy 9th birthday". So I keep thinking about writing your letter and think: "oh, I can't believe she's nine!! ... oh wait. She's not ... I should really write her letter before she turns nine though.
So you're eight. You're still you. Tough and gentle, inquisitive and all-knowing, insistent and agreeable, serious and funny.

You love to read. You spend hours outside in the spring and summer weather - mostly on the hunt for frogs and tadpoles. You delight at ducklings, chicks, and newborn calves.  You spend many many hours riding your bike. You love drawing, walking the dog, and doing detail work like knitting/beadwork/etc.
You are always helpful - on your own terms - but also really adept at anticipating another person's needs and offering to meet those.

You're very sad that you're not the oldest kid in our family and also that you don't have blue eyes. You ask why I didn't birth you first or why you weren't born with blue eyes. You call your brother names and get really really angry with him. We talk about how he has a super power - and that is to get you angry - but the antidote for his super power is to not let it bother you. But this is all really really hard to do. To be fair, many times he unknowingly drives you crazy. Sometimes you forget that the power of your feelings is inside you and that even with big feelings, you're still responsible for your actions. At this point in life though, it's really hard to feel that you can control your response to someone else's maddening behavior. It's a life-long thing that you will probably always be working on. Ask me how I know.

You love hanging out with your friends and really value that connection - even if it's someone you've only met once. You don't necessarily connect with everyone - but you do connect with many and those you enjoy being with, you ask when we're going to see them again - over and over and over. For better or worse we live in a rural area (according to you "this stupid farm") and our friends are far and wide - even our local friends are not always easy to track down and align schedules with. But you've discovered texting and facetime and enthusiastically use both regularly.

You're enjoying various video games and regularly negotiate passionately for more screen time. We talk about how if you insisted on eating green beans all the time, I would say: "you need a variety in your diet", and the same goes with life. We've tried free-for-all-screens, but then life lacks variety. We're still finding our way with this one, for sure.
You insist on a hug before you go to bed every night. And then you stay up late reading in bed. You read fairy books and comics. I don't pay a ton of attention to your reading choices - I'm just so excited that you love to read as much as I do. We were recently at a bog doing a nature walk and you pointed out a pitcher plant. I assumed this information was coming from a recent trip to The Wild Center. But no, you said you'd read about it in Never Girls. So there you go. Read away, my friend. I will suppress even my internal judgements of your reading choices.

It's been a big year for us. A week before your last birthday, our girls went home after living with us for 18mos. A few months later your baby sister was born at home. Everyone kept saying to you: "how do you like being a big sister?" and you would say: "I already am a big sister".
One of the reasons I was so excited about having a new baby was that you would experience normal birth and witness breastfeeding and just baby life. It would all be normalized and you will have a very good idea of what is involved should you choose to birth a baby in the future.

We asked you ahead of time if you wanted to be at the birth. Yes, yes! Of course you did. As the birth intensified, Grammy went to check on you both. We'd done a good job prepping you, because apparently the crazy noises I was making weren't bothering you - besides keeping you from sleeping. You weren't surprised. When birth was imminent, I yelled for someone to go get you. The baby was coming, and I didn't want you to miss it!
You were so excited. You loved holding her and snuggling her and just being close by. I'm so glad she has you and you have her.

We opened our store/coffee shop/bakery/cafe and you immediately took to the role of frequent-counter-person. I have been told, you are part of the charm of the Farmhouse Pantry experience (also known as the "stupid store", when you're frustrated at being tied down to the store's schedule). When you're gone for a weekend (off with a grandparent), we get regulars asking "where is your little girl?" and I point to Rye and they say: "no no, the older one". You impress everyone with your register skills and how well you know the inner workings of the store.

This is the year your neurofibromatosis is going to start impacting our lives. Our pediatrician mentioned a few years ago that she'd like you to connect with a team that specializes in NF at some point. We agreed that we'd go to Boston Children's at some later date.
Well, you're 8 and puberty is coming and now is the time to start that relationship. So we have an appointment scheduled for early July. Coincidentally we had your regular twice-a-year appointment with the local optometrist. He is very thorough and noticed one of your eyes looked swollen. Pictures confirmed his suspicion. There are no nodules visible, just the eye is swollen - not noticeably without the optometrist examining your eyes. Your eye site is still perfect (this is disappointing to you - you want glasses).
So an MRI was ordered, and the optometrist suspicions confirmed once again - you have a fibroma behind your eye, putting pressure on your eye. There's a lot of going back and forth with all the medical players - including a fair amount of: "why does she need an mri? That's really serious, we don't just do those .... so she's going to need an mri as soon as possible, don't wait ..."
We haven't told you yet that there's a fibroma behind your eye. We'll talk about it when we know more and have an idea about what options are - if there are even any decisions to be made right now. Fibromas tend to grow slowly, so we may just be advised to wait and closely monitor its growth.
It's turns out - below your tough shell, sometimes things are really scary - like MRIs. You were rather uncertain - especially when you learned you'd be in the room by yourself. So, unlike our usual protocol of being very up front with you, we're holding back until we have more information.

I'm amazed at how grown and mature you seem recently. Your long and lean, your face is thinning out, your hair is longer .... and then you stamp your foot screeching at me insisting it's all unfair. Or ask me to put your hair in pigtails. It's a funny mix right now -between baby girl and teen.
You have found great enjoyment in cooking - brownies at the store and pancakes at home - are your go-to cooking projects.

You expect the world to work for you and are enraged when it doesn't. You have little sympathy for someone who you deem has done you wrong and will make this clear in no uncertain terms. You are already making an impact on this world. You just haven't realized you have your own super power - the power to make change through your passion, dedication, and logical thinking. You're learning though. Figuring out how to use your power for positive change and learning how to balance that with other people's feelings.

I'm so proud of you.
Thank you for always taking on every challenge, with barely a blink. And for also knowing your limits and reaching out for support when you need it. Just make sure you keep eating when you're hungry and sleeping when you're tired. The rest will all work itself out.
I love you forever,
Momma

Dear Del ... at seven years old!!

Dear Del,
Another year! And now you're a SEVEN year old kid. Again, it's amazing it's only been a year. We've done so much, you've grown so much, and at the same time, we're still here, on our farm living our life. You've become increasingly ... um, screechy? Maybe that's the way to say it? It seems that any action someone else takes, is clearly an attack against you - at least, in your own mind. This is stressful for all and hard to know how to approach.
The biggest change for you this year, was your sisters moving back to their dads. This is what fostering is. And while you were sad to see them go and you miss them, you were also happy to see them go. I think that feeling was shared by everyone - me, you, the girls, daddy, Noah ...
And overtime, the screechy-ness ebbed and your immediate assumption that someone sniffed because they were mad at you eased. You're still drama and you still take things personally (that are not personal in the least), but you seem more comfortable in your own skin.

And it wasn't the whole year that was like that - mostly the weeks leading up to your birthday, which were also the weeks leading up to the girls moving home and involved a drawn out transition - which was challenging for everyone. Up until that point, we were having regular life, you featured as the oldest sister. You patiently read to a girl less than a year younger than you and loved playing dress up games with her. You tolerated a sister a few years younger than you, and doted on a sister 4 years younger.

You've found a passion for reading - comic books and chapter books. You like Judy Blume, Garfield, Junie. B, and most recently these random unicorn books that Grammy found for you. When you're not reading, you're a whirlwind wherever you go. When you're done with a book, you drop it; when you're done with your coat, you drop it; when you're done pouring milk into your granola, you leave it on the counter.

You're also the first one to help with a chore when asked (washing dishes! stacking wood!) and check in when you're feeling sad or you notice someone else is feeling sad. Life is fully of ups and downs and you're often looking for the person to hold responsible to remedy the situation. This can be awesome, or it can be not awesome ("guys, time to finish up on the video games." "It's not MY fault! You're the one who SAID we could do screen time!"). You're strong and smart and funny. You can come across as so confident with a huffy puff, a foot stomp, and an eye roll. And a half hour later be a ball of mush in my arms because someone didn't ask how you were doing. You're complicated. And I sit and wonder sometimes because we can feel another neurofibroma on your forehead, or near your eye. And what we've read is that learning disabilities - often with memory/reading are common. So you blow me away when you read incessantly (and correct me when I read aloud, insisting that you are right) or when you are obsessed with getting through math lessons or practicing handwriting. Like you can't get enough of life!

We've had camping trips and amusement park days. We've said bye to some great friends and you're a pro at talking on the phone now. A lot. You love every color of the rainbow, except brown or black. You insist that whatever whacky clothing combo you pick out is totally normal and not a big deal. You are disorganized to a fault, mostly because you have more important things to do in life (primarily reading). You have found a new love for twirly dresses and would love to wear dresses every day. But as always, you are "cool" only - no one is to call you "cute" or "adorable" or "sweet" or anything similar. Or they get a growl from you. Although, you recently went to work with daddy (which you LOVED and rocked with your socialness spilling all over) and people were calling you cute, etc all over the place. And you didn't growl. I was shocked to hear this. "They didn't know I didn't like to be called "cute"", you explained with a shrug like it was no big deal. After 4 years of growls. I'm impressed. And I realized this was another step in your growing process - seeing the world through someone else's eyes.

And when people ask if you're excited about being a big sister, you remind them that you've already been a big sister. But you are excited about a new baby. You want to be the first to hold the baby and you insist that we all have to agree on a name. And if we have to vote, then we will .... (except in our experience, a "vote" to you is only valid if the majority agrees with you).

You are exactly the kind of grownup I want you to become. Strong, thoughtful, sensitive, independent, compassionate ... sometimes all those wonderful attributes are hard to manage in a seven year old body. We'll keep holding your hand, helping you navigate those feelings as best we can. It's not just you who broke down crying when we got the call that the girls were leaving ... and then when asked if we were sad - we both said: "I don't know!".
I'm so proud of you, navigating all that you do with fierceness and a grin all mixed together.

I'm so so thankful you're our daughter. I can't wait to see what the next year brings - bumps, scrapes, bruises and all!

Hugs (but no kisses at your insistence),
Momma

Neurofibromatosis

Let's talk about Neurofibromatosis, the condition Del was recently diagnosed with because I'm getting a lot of questions.

There are two different types: NF1 and NF2.
Del has NF1, so I'll talk about that.

NF1 is hereditary, but in 50% of the cases, the person is the first person in their gene pool with NF1 (as is the case with Del - before her, we had no family history of NF1). For those where it is hereditary, it's interesting to know that NF1 is the most common neurological disorders.
Indicators that you may have NF1 (must have two of the following):

* A genetic connection with NF1
* More than 5 cafe au lait spots (birth marks) (Del has about 30 of these)
* Optic nerve tumors
* thinning of bones and/or bowed legs
* freckling where the skin creases (Del has this)
* discolored bumps on the iris of the eye
* more than one bump, about the size of an apple seed, under the skin (Del has one so far)

NF1 means you get tumors (known as fibromas) that are non-cancerous and grow just under the skin, usually. Our pediatrician explained that they aren't a big concern but they take up space. So in theory the fibromas could impede on blood flow - to the heart, the brain. Many NF1 kids (about half) have learning difficulties. In a way, I'm thankful we didn't discover Del's diagnosis until after she'd learned to read. So the fibromas need to be monitored. We're not really sure how, but the geneticist wants to see us in two years. The biggest period of fibroma growth is during a surge in hormones - because all that growth hormone cocktail also feeds fibroma growth. So puberty and pregnancy are the times of rapid fibroma growth - the time when we'll be frequenting the geneticist more regularly.

We were referred to a geneticist who confirmed the pediatrician's suspicion that Del has NF1. She did not feel genetic testing was necessary at this point, her physical attributes were confirmation enough for her. She did refer us to a pediatric ophthalmologist as optic nerve tumors are a bit concern and can effect vision. The pediatric ophthalmologist was wonderful and says everything looks great for now. We'll see her again in a year. The eye piece is most concerning because it kind of sounds inevitable. The pediatric ophthalmologist wants to see Del annually.

Besides the skin and the eyes, the fibromas also effect the nerves. We haven't seen this in Del at all yet.

Our pediatrician wants Del to go to an NF1 specialist at some point. There's on in NYC at New York-Presbyterian, Children's in Boston, and the big one is apparently in Maryland at Johns Hopkins.

It's scary if you think about it, but we're assured by everyone but the pediatrician that it's all manageable and actually not that scary. So deep breaths.

Anyone have experience with NF1? Please leave your stories in the comments!
Or questions - leave those in the comments too. If I don't know the answer, I will find it!