In honor of Rare Disease Day, which is tomorrow, February 28th, I’d like to talk about Ben on the blog today.
You get it, right? February 28th is a day away from another rarity, Febraury 29 during a Leap Year. I figured, but thought I’d work that out for you. 😉
Ben has Menkes Disease. Menkes is very rare. You can read all about it and Ben’s story over at The Menkes Foundation. If you’ve never googled the disease, it’s a doozy. The prognosis for individuals with Menkes is poor; death can occur within the first decade of life. And here is our Ben at 7 years old.
I titled this post Sunshine on Legs because a friend recently referred to him as this. And she nailed it. He truly is a light. A brightness. He is hope. In the beginning of his life, after the diagnosis at six weeks old, I had very little hope. Now, he is living proof that you should always keep hope alive no matter how dismal the prognosis or dire the situation. He is my Copper Luck and Hope.
Yesterday we met with the developmental optician I told you about. It was everything we wanted from this doctor (any doctor!!) and more!
Dr. M was calm, intelligent and intuitive. Immediately she was perplexed as to how Kelsey was near-sighted. In my reading, I’ve also found that most amblyopic (lazy eye) kiddos are far sighted. She was taken aback by the extreme prescription of Kelsey’s glasses (the right lens). If I look through it, without my near-sighted contact lenses in, I cannot see. The prescription is so intense.
Dr. M noticed quickly that Kelsey was using her right eye to focus, and that the alignment of her eyes was very good. The surgery had fixed the strabismus. We knew our pediatric ophthalmologist (PO) had also been impressed with the alignment at our last visit. She was impressed that Kels was really using that right eye. She immediately wondered if the Rx was too strong and should be reduced. Interesting!! In November, our PO was very concerned that the vision in the right eye was so poor and had decreased significantly. I certainly didn’t think reducing the Rx was what we’d be told to do, but I’m not unhappy about it!
Jumping ahead of myself a bit, the doctor told us that everything we had done up until this point was right. It was right to have the surgery (although she would have preferred we do some vision exercises prior to the surgery). It was right to patch. The Rx in her glasses was correct when they were prescribed. The patching worked. While we aren’t thrilled with the way our ophthalmologist handled her care as a whole child, it does seem that all the right things were done…in his office. That’s not to say that so much more could have been said, advised, explained and referred elsewhere.
We didn’t have to explain much about Kelsey or her history to Dr. M. She seemed to understand a lot just by looking at Kelsey play and interact. Dr. M quickly had a handle on her motor skills and development. And she explained the connections of vision to those skills, speech and language, and behavior…all of which was A) So fascinating and B) Exactly what we wanted to hear.
Like we already knew, Kelsey is seeing the world with one eye at a time. But, the good news is she’s actually using the right eye quite a bit…not ignoring it or having a “lazy” eye. Dave and I could tell that this was true in the past few weeks. She was interacting more with her eyes, looking at things she hadn’t looked at before, and was clearly using that eye to see more than she had in months prior. We attributed this to the use of the Atropine drops in her good eye, which acted as an eye patch that Kelsey could not remove.
We asked about Kelsey’s irritable mood and behavior pretty early on in the visit. At first, I was a tad discouraged when Dr. M said that her behavior was “typical, age-appropriate behavior” in reference to her clinging, whining and attachment to Dave and I, and any adult that could pick her up, really. I spoke up, though, and said that I didn’t agree. This was not “our first rodeo” to quote a good friend. Not only do we have another child, but we have another child with special needs, developmental delays, and major reasons to be irritable, clingy, and moody. And he’s not. While he had his fussy period from 4-12 weeks old (what baby doesn’t!?!), he was generally happy for most of his short life…especially after he got those copper shots (another post for another day). At least at home, in safe and familiar places he was content. Kelsey is not.
I’m also a teacher. I spent seven years getting two degrees that focused on children. Not babies and toddlers, per say, but children. I’ve taught for ten years and I have plenty of experience with a full array of ages and abilities of children. I have nieces and nephews. And I have a billion friends with fifty billion kids. She is not the same. She is different. She doesn’t play the same. She doesn’t interact the same. Something is wrong. So telling me that she is “typical” doesn’t help. I want you to confirm that there is something wrong.
And then she did. Dr. M said in a matter-of-fact way that Kelsey was responding in a typical and age-appropriate way, for her disability. Basically, this is what I interpreted. She’s smart. You can tell it’s in there. But…she was five weeks early and had five surgeries before she was one. Four brain. One eye. Side note-That same “rodeo” friend shared that 80-90% of learning is gained through vision! Isn’t that amazing?? And vision is all about the brain. Sight is reading the letters 20 feet away, but vision is how your eyes send a message to your brain and how your brain interprets what you saw. Those two organs connect on so many levels, and then you develop. You grow.
Dr. M basically went on to say that Kelsey basically has an achievement gap. In these days of high-stakes testing, I think we can all relate. She is at an age where she should be doing all kinds of things. And she can feel it. She wants to walk. Even more so, she is DESPERATE to talk. Even to use sign language or gesture. To tell me that she HATES when I cut her bananas in half-moon shapes and she’d actually prefer the whole damn thing, thank you very much! Or that she does not want to see that stinking ladybug toy she liked when she was 9 months for the 80th time today. But her eyes and her brain and her body can’t do it…yet. THEN, she said that the language centers of the brain are in the left hemisphere. Which is accessed through the right eye. Or something to this effect. Dave is the listener at doctor visits. I don’t process as well because I’m too busy worrying about the future, stressing about the delay, giving Kelsey her favorite toy and drink and snack and lovey and pacifier to keep her happy so we can talk. But did you get that? Despite my digression? The speech and language centers of the brain are so heavily connected to the right eye!!! Her “BAD” eye!!! So no wonder she’s delayed in this area! Hallelujah!!! Knowing is so-much-more-than half the battle!!!!!
Even more fascinating and relieving for an insomnia causing concern is related to her gross motor functioning. Okay, so it wasn’t as clear or easy to see why she’s not walking…probably because her gross-motor milestones aren’t as delayed as the rest of the lot. She’s crawling, pulling to stand and beginning to cruise and climb steps. BUT, she did reassure me about a huge fear of a recent tick of Kelsey’s. For the last month or so, she’s been having these little startles. Jumps. Hiccups. I worried the worst possible scenario was taking place. I worried about seizures. We emailed our neurosurgeon’s office who are so amazing with contact, questions, answers and help. They told us it wasn’t shunt related and to call our pediatrician. We went to our pediatrician pretty quickly after that. He witnessed the startle, and coupled with the fact that they were new, happen when she’s tired, are infrequent with no recovery period or pain, he told us not to worry. They were benign myocolonic jerks. But, I wasn’t completely reassured. I wanted to know why. And I worried it was another problem to add to Kelsey’s list. So, while frightened of the worst, I asked Dr. M if this problem could be related to her vision. The developmental optician (not the neurosurgeon or pediatrician) told us that her motor skills, and lack there of had a complete correlation to these jerks. Her body, brain, eyes, and skills were off. Not functioning as they should. So these jerks were no surprise…a motor relief or outlet for her brain…and gave us no cause for anymore worry or concern. Amen! What a relief!!!! I cannot tell you how happy this made me. This and everything she was saying. She was saying “I see you daughter. She is smart. She is delayed. Here’s why. I am going to help her.”
Reduce the Rx in the right lens, increase the Rx in the left lens of her glasses. Dr. M had Kelsey wear these multi-lensed glasses, much like the “A or B? A? Or B?” machine you and I use at the eye doctor. But they were little glasses Kelsey wore. Dr. M looked at her eyes through the lens, watched her, waited, watched again, tried to get her attention, and BAM! Dr. M took them off, said “OH MY!” and basically did a little jig of delight. Apparently she saw everything she needed and hoped to see. Her hypothesis on Kelsey was correct. She did not need the intense high Rx in the right lens of her glasses. The doctor would decrease the right lens, give the left lens a bit of an increase in Rx (currently there is none), and hope that with this and therapy, Kelsey would start to use her eyes together to see and interpret her world. It was very, very reassuring to see how our daughter made a doctor squeal in delight. I don’t completely understand what she saw, but I know it made her understand our Kelsey Ann, and that is, like I said, more than half the battle.
Stop using the Atropine drops! I thought we were destined to be life-long patchers!!! This is amazing news. I’m a little hesitant because it seems too good to be true. I also don’t want anything (her vision or crossing) to regress. We do NOT have room for regression with this girl! Dr. M seems to have a good plan to keep tabs on her for exactly this, so I feel better. Not dropping means not having to dilate Kelsey’s eyes three days a week. Hooray! As I explained, Kelsey’s eyes stayed dilated long after the last dose is given. Her eye is dilated today even though she last had the drops over a week ago!! Dr. M said some people can stay dilated up to four weeks! Yikes!!!! So, this also means that she won’t be as light sensitive. This past Sunday we went to lunch in a very bright restaurant and the poor baby had to eat with her eyes closed because of her photo sensitivity. It was pathetic!
Come back, without Kelsey in a week. Dr. M likes to have a follow-up appointment with parents only to discuss the exam and evaluation. What a concept! Can you imagine being able to have a scheduled, uninterrupted time to talk to your child’s doctor? Wouldn’t that be such a gift?? If I’ve learned anything in these seven years and hundreds of doctors is that they’re busy. Busier than you and I, for sure. Too busy. They want to help (most…I think), but they have to move on to the next patient, surgery, chart. I am so excited for next Friday. For a doctor’s appointment. It’s sad, I know.
Vision Therapy (VT). I’m sure this is what we discuss next week but many references were made to what we will do at home and in VT to help Kelsey. Bring it on.
Our final direction was to NOT have Kelsey wear her glasses until the Rx is fixed. I asked, as we were leaving, if she should continue to wear the old Rx and Dr. M said to give it a try without them. If we could tell she needed the glasses, to go ahead and put them on her, but to try and see how she adapts without the glasses and drops dilating her eye. This made me a little nervous too because we have seen progress, behaviorally and developmentally when Kelsey wears the glasses. BUT, I’ve also noticed that was after putting her drops in. So when you blind her good eye, it makes sense that giving her bad eye a little help would be preferable. Go figure. I’m on the hunt for the quickest way to get her lenses swapped out.
After this appointment yesterday, today was SO much more bearable. I knew (mostly) why she was whining or upset. And even if I couldn’t interpret exactly what she wanted, I knew there was a plan to fix it. Phew!
Today we have an appointment with a developmental optician. We are literally hoping she solves all of Kelsey’s problems to date in one fell swoop. Not really…kind of… Let me take you back a bit to let you catch up.
Kelsey had strabismus surgery on April 4, 2014, one month (and a couple days) shy of her first birthday. For Kelsey, strabismus means that her eyes turn in towards her nose or “cross.” We first noticed this problem after her first shunt malfunctioned and was replaced in September, 2014. Within a month’s time she had two more brain surgeries (four total, if you’re counting) and her eye crossing was significantly.
By five months old, Kelsey was prescribed glasses and an eye patch. She was to be patched four hours a day. That’s a post (or ten) for another day, but for now I’ll tell you while this direction from our pediatric ophthalmologist (PO) seemed hard (impossible!), it wasn’t as hard as what would follow the surgery on April 4th.
Before surgery, Kelsey was our “easy” baby. Clearly in our family, “easy” is ALL KINDS OF RELATIVE (in utero stroke and hydrocephalus, emergency c-section, NICU, four brain surgeries in five months), but truly, she was easy. She was calm. She was happy. She was easy to please. She slept. She ate. She smiled and laughed…on time, I’ll have you know. While rolling, sitting and crawling came later than the norm, she did them within good limits…especially considering she was five weeks early.
As for her vision, her PO says that she likely had double vision as the eyes began to cross, but being so young, she probably ignored the second image her right eye was projecting. So, she only used her left eye to see. Instead of seeing with binocular vision (two eyes), she saw the world with one. And apparently it was working for her.
And then she had eye surgery. Dave and I very frequently remember commenting during a long wait in pre-op that “of course Kelsey is as calm as a cucumber!” He and I were on edge, getting antsy and frustrated, and just wanted it over. At almost ten months, Kelsey had not eaten or drank anything since the night before but just happily sat in our laps, played with a toy or two, snoozed in her stroller and didn’t seem to know or care what all the fuss was about. This was the baby we knew. What we expected would happen. She was, after all, a hospital pro!
The surgery itself was very quick. It worked, the doctor assured us, and all was well. We could go home. Patching and possible follow-up surgeries might be in our future, but hopefully this would fix the cross. And that’s all it was fixing. Basically, in my opinion, it was cosmetic surgery. Which for this completely self-conscious mom who is definitely overcoming childhood trauma of being teased for her appearance, appearance matters. So if this would fix something that might become a future reason-to-be-teased, great!!
In the days and weeks to follow, Kelsey’s eyes were definitely straighter. But that was the only thing that was “better.” It took us a little while to realize (about 9 months), but our daughter became a new baby on April 4, 2014. What first seemed like coming-off-the anesthesia-fussiness…turned into “maybe she’s disoriented because she can’t see the same way anymore”…to a general dismay that our daughter was now difficult, high-maintenance, and hard-to-please.
By her first birthday, we were getting worried. And shortly after her party where she spent most of the day sleeping, throwing up all over her room, and generally crying throughout the hoopla, we took her to John’s Hopkins ER to see what was wrong. We were relieved, but confused, to find out that Kelsey’s shunt was functioning fine and an MRI showed her brain was developing normally. During her first few days of life, we were told it would be easy to tell when there was a problem with the shunt. She would be irritable, lethargic and fussy. Yep, yep and yep. We would end up going back to JHH again in October for similar concerns. Another X-ray and MRI…nothing. Everything was “fine.”
But it wasn’t. She was almost 18 months and she wasn’t walking. Wasn’t talking. Not a word. She wasn’t gesturing. She didn’t point or wave bye-bye. She really didn’t like to play. She did like to explore and had started crawling around 13 months. But she had stopped pulling-to-stand (she started around 11 months).
And then we went back to the ophthalmologist in November, 2014. At this visit, we learned that the sight in Kelsey’s right eye had declined dramatically. By the way, at this point she wouldn’t keep her glasses or eye patch on to save her life (or mine!). And we admittedly gave up. Fighting the constant, daily crankiness, whining and clinging was enough…reapplying a band-aid-like sticky patch to a toddler’s eye was too much. And to cut my mom-guilt a bit, the doctor was so laid-back about it all that it never seemed like a big deal. “Hahaha, yep, those toddlers are fiesty,” he would say.
But, I’m sure, once we can get past all this, I will beat myself up for not being more dedicated to our patching assignment. We’ll see.
Anyway, back to the November eye visit. Kelsey would need a new glasses prescription. This one would be much stronger. Her right eye wasn’t good. Her left was great, though. And, again the funny doc said, “Well, at least she has a spare!” He wasn’t quite as flippant as I’m making him out to seem, but he did convey that Kelsey seemed to be one more patient in his stack, instead of a serious matter. We should try our best, but he understood if she wouldn’t coopperate. We shared with the doctor that Kelsey’s mood and behavior had severely declined since the strabismus surgery in April. He made no connection or affirmation that this could be true. We also said she was 18 months and not walking. We asked if the two could be related? Nope! How about the fact that she tilts her head to the left (remember, her good eye’s side)? Could this be related to her vision? Nope! “Likely related to the hydrocephalus.” (We contacted our neurosurgeon…it’s not).
So we left, discouraged that things were getting worse, not better. But my ever-optimist husband made me feel better, as he always does after a doctor’s appointment for our kids. I remember sending him a text after we had parted ways for the day, that said, “Par for the course!” And he replied something to the effect of, “Nah! A bogie, maybe!!” He thought it was a good visit. That things could be fixed. She would be able to compensate. All would be ok. He’s a keeper.
Then Kelsey got her new specs. This time we went for the Miraflex brand. They are a pliable plastic/rubber-like material. Virtually indestructible. I was against these for her first pair a year ago, because they looked so…I don’t know…special. The back strap behind the head…I don’t know. I didn’t like it. Well, like every apparatus my kids have gained to help them succeed, I have learned to LOVE her Miraflexes. Again, worthy of a different post.
The “burgundy pink” glasses changed her. For the better. For a month. In October, when we got the new glasses, I swore she wouldn’t keep them on, but this time I was committed. We had no choice. She had to wear them. Her right eye was so bad. I couldn’t give up. I wouldn’t. And whatdyaknow!?! She kept them on!!! Day one was tough. But by day two, she kept them on…most of the time. And a week later, guess what!?! She pulled to stand. Yup! A milestone she gained and lost months ago, came back!!! And, her mood improved immensely. She wasn’t back-to-her-old-self, but she was happy (enough).
About a month went by. We went to a check-up with our neurosurgeon to brag about her new mood and new glasses. We told the pediatrician and anyone who would listen. Things were better. Developmentally, not much progressed, but she was exploring her world all over again, and her crawling was getting very strong. She started to let go of furniture and attempted to cruise a little.
And then we started patching again. At first she kept the patch on. And then she didn’t. So we were given a piece of scotch tape-like film that covered the glass lens of the good eye (to make the weak eye work harder and force it to see). This way her glasses and patch were an all-in-one deal. But…then she started to rip the glasses off. Over and over and over and over again. And again. And for another couple weeks, okay probably a month (Christmas!), we gave up. This girl was tough. Tougher than me in many ways.
The changes in Kelsey this time were subtle. But winter came…snow came…Christmas passed…and the blues set in. For everyone. After a very particularly hard day at home, after her weekly physical therapy visit, I had a melt-down. Dave was out of town (coming home that night), and I turned to the internet for help. I found another mom-blogger. And what she said about her daughter rang true for Kelsey in SO many ways. Side note–I really do think that Moms could both save and rule the world. Oh wait! We already do!
Dave had been saying for months that everything changed when Kelsey had strabismus surgery. She was happy. And then she wasn’t. It took me longer to see this but we do believe it to be true. All of the changes in our daughter for the better or worse mood and development-wise can be traced back to vision.
Glasses with patching-decline
Glasses without patching-better
Currently, we are giving Kelsey Atropine. It’s an eye drop administered three times a week, on consecutive days to her “good” eye. It’s like a patch she can’t take out. For 24 hours, three days in a row, every week. And, guess what!? It dilates her eye for almost a week after the drop. So the poor girl is walking, ‘er crawling, around dilated all week. And as you can imagine, this has made her mood and development decline. WE NEED HELP!
So. Back to the whole reason for this post. Today we are going to see a developmental optician. This is the description of the doctor’s specialty:
“… provides comprehensive vision care as well as vision rehabilitation and vision therapy to patients of all ages, including pediatrics and geriatrics. She helps patients to improve their visual functioning and quality of life with non-surgical correction of vision problems that impact reading comprehension, learning, sports, and job performance.
As a neuro-developmental optometrist, the doctor specializes in diagnosing and treating binocular (two-eyed) vision disorders including convergence insufficiency, amblyopia (lazy eye) and strabismus. She also specializes in diagnosing and treating visual problems related to congenital and acquired brain disorders.”
As you can see, we’re hoping she can solve all our problems. Thanks for hoping this for us to. Hope has gotten me through some dark days. It’s a powerful drug. Stay tuned for a full report…
I’ve finally committed to starting a blog mainly as an outlet for myself. Hopefully my kids will enjoy reading their story one day too! I journaled a lot during high school, college and in my twenties. I wrote about all my dreams, boys, my weight, my self-loathing and typical female neurosis. Then I met Dave and got everything I ever hoped and wished and dreamed for. A boyfriend who I adored and who adored me back! Then a year later, a fiance’! A beautiful house! The perfect wedding! A bun in the oven! I no longer needed to write because life was pretty perfect
Then Ben’s story began and life got real hard, real fast. Fast forward through the coulda, shoulda, woulda’s and here we are now. I have wanted to write all along, to heal, but never did anything much about it. Glennon, the genius blogger from Momestery, explains writing and telling one’s story so well. She does it all the time, but especailly here. Having someone hear your story is healing. I guess that’s why I don’t keep my mouth shut when someone asks, “How are you (is he/is she) doing?” I have to share. I need for people to witness what we are going through. By doing so, I’m able to cope. To put one foot in front of the other and keep trying.
In addition to being a vice and therapy for myself, I hope that this blog will help someone else one day. Someone who is struggling with the diagnosis of a child with an incurable disease (we’ve got two!), Menkes challenges, and therapy challenges. Someone who is in the hospital with their not-yet-one year old daughter awaiting surgery for the fifth time. Someone who doesn’t know how the heck they will get a six month old to wear glasses or a two year old to lay still while injecting them with copper histadine. Someone who needs to order ankle/foot orthosis (AFOs) for their daughter and then find a shoe to actually fit on that brace. I’ve got a lot of things figured out with these two blondies, but I’ve got a lot to learn as well.
I hope readers will help me to cope on the hard days and will celebrate the milestones that pass most people by on time, as expected. And if you can relate, please share! Please comment and write. I love social media for bringing people together. For making me not feel alone in this big, scary world. This is a big load to handle and if you’re carrying one, too, I’d love to hear. And please ask questions. Ask ANYTHING. Anything about the kids or about me. I tend to be an open book about our life. Probably too open some times. I can’t speak for all special needs parents, but I want you to ask why Ben’s speech is hard to understand. I want you to ask why Kelsey has glasses or why she has a little bump on her head or scar on her tummy. Talking about our differences makes me feel understood, and therefore more normal.
Thanks for reading. You’re helping just by listening!
We woke up very early on May 10, 2013 to head to Johns Hopkins to meet our baby girl. We knew she had a brain hemorrhage and enlarged ventricles (hydrocephalus). I was 35 weeks pregnant and would have a procedure done to determine if she had a blood disorder on top of everything before she would be delivered or induced. If she had the condition, they would do a blood transfusion before an emergency c-section. If she didn’t, well, we wouldn’t have answers about the bleed, but we would know she could be delivered safely.
After a very long epidural insertion and a very long procedure trying to get Kelsey to remain still in the womb so they could insert an long needle through my stomach and into her liver to get a blood sample, it was determined that she did not have the blood disorder the doctors were concerned about. This was, of course, a good thing but while in the throws of all the action, it was a disappointment that we didn’t know what the problem was. Nevertheless, I was brought to, covered up and sent back to pre-op to wait for my c-section. At this point we had been at the hospital for about six hours.
We ended up having to wait even longer because another, more pressing patient came in and needed the operating room. Dave and my mom were very anxious, as were…come to find out…many friends and family members who were in close contact with them at the hospital. I was calm (numb!!) and didn’t feel the need to rush things. She was coming five weeks before her predicted birthday so what was the rush!? As long as she was in my belly, I didn’t have to face all the challenges I knew were to come.
Around noon, we went back to the OR again. I was given more meds and felt like I was an old pro on the metal table this time. I cannot say enough about the anesthesiologist who was assigned to my care. The obstetricians were also very caring and helpful, but they were focused on Kelsey…as they should have been. The anesthesiologist was focused on me, and on my comfort level. Later the blue screen you hear about in c-sections went up, the doctors told us it would be about an hour operation…and about five minutes later Kelsey was born! I was on that table for a long time but her arrival was QUICK, compared to what we were prepared for.
In the weeks between her diagnosis and the minutes before her birth, Dave and I were scared what Kelsey would look like. If you research hydrocephalus online you’ll find a world of information from SUPER scary to not-so-bad. We were worried about deformations, a large head and many unknowns. When the OB yelled, “Baby out!” we saw a beautiful, pink, skinny and perfect baby. Born on 5/10/13 (35 weeks) at 3:10pm weighing in at 5 lb. 10 oz. (how’s about that number luck?!). To the blind eye, you wouldn’t even notice the hydrocephalus, but her head was larger than the average 35 weeker, for sure. Initially she did need oxygen and the CPAP machine, but by the end of the night, tucked snug in the NICU, she was breathing on her own.
We were terrified but also relieved. She was here. She was no longer abstract. She had a long road ahead…one that would begin with surgery in the coming days. But for now, our fears were calmed by the beautiful sight of her.
Kesley’s story, unlike her older brother’s, starts about three weeks prior to her birthdate. I was headed to have a final ultrasound on April 25th, to “check the growth” of our baby. I put “check the growth” in quotations because it turns out that a 32 week ultrasound (that I had a week late because of scheduling conflicts) is unusual. An obstetrician from an imaging center I went to, but not my regular doctor, recommended the ultrasound because of my “high risk” pregnancy. I was considered “high risk” because we used IVF to conceive Kelsey.
Dave and I were focused on fifty other things on our way to the ultrasound. I was feeling chipper and excited to see our baby one last time before her birthday, and Dave was concerned about a pressing matter at work. Everything with this pregnancy had happened without challenges, just like it was with Kelsey’s brother, Ben…until April 25th.
The technician performing the ultrasound was quiet as the scan started. I had no concerns, whatsoever, even as her silence continued. After awhile, I said, rather flippantly, “Is everything ok?” As if there could be something wrong…we knew everything there was to know about this baby (more on that later)…and we knew she was very healthy. I’m not really sure the exact words the technician used, but I began to know that everything was not, in fact, “ok.” I believe she, by the book, told us she would need to have the doctor come and speak to us. But I also vaguely remember her explaining that a ventricle in her brain was enlarged. Disbelief is an understatement. There truly was absolutely no way that something could be wrong with another baby.
The doctor (still not mine) came in after what seemed like forever. I was into the ugly cry by then, but it was an ugly cry coupled with certain disbelief. I was positive this was a mistake. A mistake I didn’t want to deal with, but one that would be over soon and we could go back to having our healthy baby girl. The doctor seemed more concerned about covering her butt than consoling us or explaining what they saw. She was also passing the buck. They wanted us to wait, overnight, and go to a maternal-fetal medicine office down the street in the morning. “It’s probably just our poor machines! she said.” “They have better machines and radiologists down the street! It’ll be better to have another scan there.” Nothing about what an enlarged ventricle could mean, how it happens, or what to expect…
We asked to speak to a mid-wife. I have been seeing a mid-wife since I was eighteen, and I so appreciate their bedside manner. At this point we really needed bed-side manner. The midwife calmed some fears and then brought in another OB. The OB really led us down a path of “it was a mistake.” She claimed to not even know how much an enlarged ventricle had to be, to be a problem. We left confused and scared, but hopeful.
The waiting that night, the next morning, and in the waiting room of the clinic where we would have the ultrasound took forever. I could tell Dave was very nervous. I, on the other hand, was unusually optimistic that it was all a big mistake due to an inexperienced ultrasound tech (that I would be complaining about later!). I was wrong.
This second ultrasound technician also took what seemed like forever to say anything. It wasn’t until we asked, that she shared that the ventricles were pretty large…especially the right one. I asked what that meant and she was adamant that she couldn’t say…only the doctor could. I demanded a doctor immediately. She wanted to finish the scan. I was sobbing…screaming…flailing. After some curse words, she gave up and went to get the doctor.
In the fifteen minutes it took for a doctor to come in, there was crying. Crying like I’ve never done before. Screaming like I’ve never done. Sadness like I had never felt. This was going to be our healthy baby. We worked so hard, for so long, and spent so much money to have a healthy baby. And the dream was crushed again.
Dave was a ROCK. He remained calm. He comforted me. He told me it would be alright. I continued “losing it” while he just hugged me, rubbed my back and spoke softly. I wanted to give up. I wanted the baby to have Menkes, like Ben, instead. At least I knew what that was. I didn’t want to learn a new problem. Didn’t want the doctors. Didn’t want the therapy. Didn’t…want…to.
Finally the doctor came in and explained hydrocephalus. Both ventricles in her brain, where fluid flows through, were enlarged but the right was significantly worse. It was “water on the brain.” The doctor gave only worse case scenarios. I cried. Dave asked about the best possible outcomes. I rocked. Dave got the doctor to say that the baby could “just” have developmental delays…and he hung his hat on that. I shook my head. I didn’t want either scenario. I wanted healthy. The baby would likely have a shunt placed in her head, shortly after birth, to drain the fluid and relieve the pressure on her brain. We would wait…have more tests…let the baby grow closer to full-term.
The next few weeks were awful. Lots of time to think and worry about the worst-case scenarios. We are not internet researchers when it comes to our kids and the conditions that affect them. We did that initially with Ben and it only made us worry more. We have always learned about their conditions from them…one day at a time. It’s the only way to stay hopeful, in my opinion…by being slightly ignorant. During these weeks, I took a leave of absence. There was no way to work. We went to the beach to “get away.” It helped but only for brief moments when we would forget what we were getting away from.
Finally on May 9th, we received a terrible phone call that the results from an MRI showed that this was probably, per the OB from maternal-fetal medicine who only gave the worst case scenarios, a worst-case scenario, indeed. A hemorrhage had occurred in our baby’s brain, in addition to the hydrocephalus. I would be sent to Johns Hopkins to have the baby, likely the next day, and to stand by for phone calls to have that arranged.
Dave and I sat, crying, in silence for over an hour. I remember “How I Met Your Mother” was on TV, but muted. We just stared and cried. After we couldn’t sit in the house anymore, we decided to drive to The Grotto at Mt. St. Mary’s College in Emmitsburg, MD. It’s a very serene and spiritual place, and one that Dave visited in the early days of finding out about Ben’s condition. After aimlessly wandering and feeling like nothing was the right thing to do after you find out that your child will likely be severely disabled and delivered tomorrow, we left. I couldn’t find it in myself to pray much at all during these uncertain weeks. My faith has been greatly tested and I’m still having trouble finding it again.
We were driving home when we got a call from who would be our OB at Hopkins. She wanted us to come in to have blood tests and to get prepped for surgery and delivery in the morning. So we headed to Baltimore to receive even less encouragement about our situation. In the morning, a procedure would be done in which they would test to see if Kelsey had some sort of blood condition that caused the hemorrhage. I would be awake but numb from the waist down. If she had the condition, they would do a blood transfusion before an emergency c-section. If she didn’t, well, we wouldn’t have answers about the bleed, but we would know she could be delivered safely.
Before going home, we were to meet with Dr. Ahn, who would be Kelsey’s neurosurgeon after birth. Terrified, we drove to meet him. Immediately his presence calmed us. He was kind, quiet and compassionate. I was balling from the minute he started talking and sharing the films from the MRI. And, because of that, I missed a lot of what he was telling us but only focused on the words “surgery; bleeding; shunt; NICU; pressure on the brain.” Dave, as strong as ever, asked all the right questions and listened very carefully, only adding a bit of his never-dying optimism to what the doctor was telling us. The doctor nodded and said a lot of “we’ll have to see,” but Dave gleaned that this wasn’t, in fact, the worst-case scenario. That Kesley might…be alright.
We went home, Dave now on Cloud 7 (not quite 9, but not 1 either). I remained pessimistic, sullen and scared…until he started to convince me of what the doctor had said. Kelsey might be alright…
Benjamin Patrick Larrick was born on September 19, 2007 at 7 lb. 3 oz. He was two and a half weeks early and seemed perfectly healthy except for some jaundice. On September 22nd we went to his first doctors appointment. The nurse practitioner that saw Ben wondered if he might have an incurable, fatal disease called Menkes Disease, due to the characteristics of his hair. We were devastated. Ben seemed perfectly healthy to us and we had only had him for three days. We wondered how there could be something wrong??
We were sent to Children’s Hospital in Washington, DC to see a geneticist a week later. It was agony waiting to find out the results of initial blood tests, wondering if the new love of our lives was sick. The geneticist who saw him was encouraged by the fact that his hair wasn’t kinky under the microscope, a telltale sign of the disease…or so we thought. We’d have to wait a few days for the blood test results, but we were happy with this fact. A few days later the call came and we were elated! The copper levels were normal. More waiting was ahead…it would take 4-6 weeks for the full genetic report, but the geneticist was pretty sure that we could breathe a sigh of relief. We did, for sure!
We had all but forgotten about Menkes until the fateful day, October 30, 2007. Our world came crashing down. The geneticist from Children’s Hospital called to tell us that Ben’s genetic testing came back positive for Menkes Disease or “Kinky Hair” disease caused by a copper processing deficiency. We went to NIH the next day and spent the scariest Halloween ever with Dr. Stephen Kaler, the leading authority on Menkes Disease. We were given copper histadine injections to be given to our baby twice daily, and sent home with heavy hearts and little hope.
We started working with a PT, OT, speech therapist and special educator once a week to keep him thriving…and boy did he! It was clear to us by 6 months that the copper treatment seemed to be working. Ben started sitting up, grasping toys, rolling over and showed signs of communication. Then, by a year old he was standing with support, playing with his friends, and beginning to use sign language. Sixteen months was Ben’s “golden month.” He started pulling up to stand and crawling! More milestones came…sometimes all at once and sometimes few-and-far-between. By 2 ½, Ben could walk unsupported, stand independently, crawl, and push himself forward and backward on a push car. He began saying his first words by 27 months. At 31 months, Ben was assessed at a 33 months level for receptive language. This was such a big reason for us to celebrate. It was a fact that he understood everything (and more) that a typical 2 ½ year old could.
When Ben was diagnosed on that very scary Halloween in 2007, we weren’t sure where we’d be today. The first statistic we read online was that many boys with Menkes don’t make it to their third birthday and most don’t see past the first decade of life. The oldest “thriving” boy with Menkes is 19. While we’ve always tried to live in the present and learn about Menkes from Ben vs. through research or the Internet, we definitely hoped for more than just three years with this precious little man in our arms. We hoped for birthdays, trips to the beach, first words and steps, school days, braces, winning games, recitals, graduations and weddings. We hoped for smiles and health beyond all else. We didn’t know what we’d see or go through…but go through it, we must.
Luckily what we saw was more than we could have EVER wished for. Ben took those first steps into our arms and we heard his first words. We felt the hugs and heard the laughs. We saw him clapping, dancing, playing, walking and living.
At almost seven, Ben can do all the things that were predicted to be impossible for him. He can walk, march, run, jump, walk up and down stairs by himself, kick a ball with both feet, play baseball and ride a bike. He can swim, dance, climb and swing. Ben is quite funny. He loves to make people happy and is very social. He can read and write and solve math problems. He has a very creative imagination and is very clever. Ben is quick to be loved by all who meet him.
In Ben’s seven years, he has never had a seizure (knock-on-wood). Other than the common cold or flu, he has been completely healthy and happy little boy. Ben amazes us daily with his adorable personality. He is always smiling and laughing and happy. Everyday he becomes stronger, smarter and more lovable.
We realize we may have a little miracle on our hands and feel overwhelmingly thankful to God for this. We are also extremely thankful to that nurse practitioner, that we saw only that one time, who questioned whether Ben had the disease. We hope that only good things are in the future for our Ben and we feel so extremely proud and lucky to be his parents.
My name is Kim and I’m the mother of two adorable children, Ben and Kelsey. Ben was born in 2007 with Menkes Disease, a copper processing disorder. We have been so incredibly lucky with Ben’s little life so far. He is beating all the odds of his prognosis and smiling all the way. Kelsey, his sister who was born in 2013, was born with hydrocephalus and is in the midst of overcoming many challenges. We have survived all these years on hope, luck and a whole lotta love.
“He who has health, has hope; and he who has hope, has everything.” – Thomas Carlyle