Diagnosing Hypochondroplasia: the first step

You'll notice a tab below the blog's title banner labeled "Our Story." I realized today that I never completed the full story of how Belalu was diagnosed with hypo. So, after a long jump in time, I'm picking up from that thread. The last post was here, when we realized she was unable to straighten her arms. Her growth chart was showing some slowing down, but not enough to alarm the physician too much.

I've found some pictures to show how she usually held her arms:

At two months

At four months

It's hard to tell because of her dress, but if you look closely, you can see that they are not completely straight. This is as straight as they would go.

So, she was enrolled in the Birth to Three program, and we'd have a teacher, PT, and OT visit the house every other week to work on her tone and mobility. Her arms seemed to be getting looser, and I was convinced that everything was physically fine with her when we had her nine-month well check.

Our regular pediatrician was out on maternity leave, so we saw a young doctor who was there while she was out. We got through the whole exam, and just as it appeared that we were done, I asked him, just to confirm what I already thought, that there were no concerns about her height, since the Dr. had mentioned something at the last appointment.

He looked at her chart, looked and her, and said yes, actually, her height was still dropping, though her head was increasing. Then he said, just like that, as if he were talking about the weather, "you know, she has the characteristics of a dwarf." J and I just stared at him. Then I told him that I had actually asked the Drs in the NICU if that was a possibility, and they said no. He asked us if they had tested her for dwarfism. We said that they had given her what seemed liked hundreds of tests in those ten days, surely one of them would have picked it up. He said that it was a specific test and he'd check her records. He left us alone there in shock for a few minutes and then came back and said there was nothing there about it, so he'd call the geneticist at the other hospital and find out. "I'll give you a call in a couple of days," and that was it.

Ok, I may be remembering in fragments- I do recall he did at some point say something about how she would be able to lead a relatively normal life, that it wasn't a big deal, blah, blah, blah... but his attitude was complete nonchalance and almost dismissal. We had overrun our time for a well check and he was ready to pass us on to someone else. We never heard from him again, and didn't really want to. After a day of waiting and wondering, I called the geneticist myself and found out that she had not been tested and scheduled the early appointment we could get- for two and a half weeks away.

I spent that time asking myself: if she had dwarfism, how could everyone have missed it? All those tests, all those days in the NICU and subsequent Drs appointments at two different hospitals, all the specialists... I refused to form an opinion about it until someone told me with concrete evidence. J, meanwhile, spent what seemed like every day and every night researching the internet, learning about all the different types of dwarfism. One day he was convinced she had one type, the next day it was a different one. I couldn't listen to all the medical terms and speculations- I just wanted to know for sure what was going on. I refused to get upset before there was a diagnosis. She was fine, she was healthy- this was all I could see. But after a while, J settled on hypo and there was my explanation for why no one had realized it before. And I started to believe it, and I started this blog to work through my thoughts about what this would mean for her and our family. My first few posts live that experience.

Sorry for the Silence

I've been away from this blog for a long time, but I think I'm ready to get back into it. Last fall and spring I stopped spending so much of my free time on the Internet. I used it enough at work, and I realized that I didn't want to also use it in the evenings after the kids went to bed. I wanted to knit, sew, read, cook... things that gave me creative satisfaction.

The other reason, that goes along with this shift, is that I stopped needing it as much. I started this blog as a way to work through my thoughts and emotions when Belalu got diagnosed, and that need slowly became less urgent. She has been healthy and her development has been progressing normally, so I haven't been as worried about her.

However, I also created this blog to reach out to others who were perhaps grappling with the same news we got two years ago, and I hope that doesn't change. Hypochondroplasia is so rare, there are few places to find info about it. My information, of course, is personal, not medical, but I still remember searching for that personal experience when I found out. So, I want to continue to record our experiences here.

Here are Belalu and Essie on a trip we took to the National Eagle Center in May.

Thoughts a Year In

We are now over a year in from the diagnosis that changed our lives. In many aspects, life is exactly the same as it would have been if Belalu didn't have hypochondroplasia. Nevertheless, it's always in the back of my mind, but just as one facet of the many that make up who she is and how she'll face the world.

I am not afraid of different. I love that my daughter is different, and hope that my son will be, too, in his own way. I do not wish for either of them to have "an easy life." That does not mean I want their life to be hard, but I won't wish away the difficult moments. Easy does not make strong. Easy does not invoke contemplation and growth. Easy does not stir us to respond to challenges that compel us to shape our values and define who we are.

I cannot anticipate the challenges either of my children will face. I just try to prepare them to be morally and emotionally strong, compassionate and respectful to themselves and others, and to have integrity. To search for their passion and to value their place in the world. With these tools, I hope they will be able to face whatever challenges arise, and they will be better people for it.

Two Year Appointment

Belalu's stats from her two-year well visit. We'll be seeing Dr. Pauli in Madison next month.

Weight: 24lbs 4 oz; 20% on the AH chart
Height: 2' 6"; less than 3% on the AH chart
Head circumference: 20"; over 97% on the AH chart

Two Years!

Recently Belalu turned two. This amazing girl of mine just gets sweeter and sweeter. She hasn't lost any of her determination, though. People who meet her, many of whom don't know her as anything other than an average toddler, tell me "you're not going to have to worry about this one." And those who do know that she is extra special, they reassure me that, well, we won't have to worry about her. I should clarify that I'm not going around telling people that I'm worried about her or anything- they just watch her for a while and then make their pronouncement without prompting.

This girl just projects confidence in herself and her capabilities. She figures things out. She gets where she wants to go, one way or another.

Her annual well visit was uneventful, as we hope they will be. She is progressing along her own curves. We celebrated her day as a family. The boys made her cupcakes while she napped, and then we ate them after dinner on the river.

It's been a busy, fun summer, so I've been absent on the web. But I didn't want to miss this occasion. Happy Birthday, sweet, gorgeous girl.

Our Story: The First NIne Months

After ten days in the NICU, Belalu had stabilized enough for us to finally go home. She had been put on Phenobarbital when they first realized she was having seizures, but still had two more after that, so they changed her to Keppra. That seemed to work. The Dr. wanted her to be seizure-free for three or four days before we could be released, so those additional seizures were devastating for more than one reason. Of course it was horrifying to see her turning blue and nerve wracking to hear the machines she was hooked up to suddenly go off in their shrill, heart-stopping tone; but it also meant that our countdown clock was re-started, and our family had to face more days apart while our day-to-day normality was put on hold for what seemed like an indefinite period of time.

It did indeed end, however, and we gladly left the hospital and the NICU to head home and start our "new normal." The medication made Belalu sleepy, so I was grateful that at least all that juggling of newborn and toddler was easier at first than I had anticipated. I should clarify that it was the first drug that really knocked her out- in the NICU she slept almost all the time, and even when awake, was pretty limp. I know newborns sleep a lot, but this was extreme. The nurses would try to wake her up for a feeding, and had a hard time of it. She would eat and immediately fall back asleep. Nevertheless, thankfully, we had no problems nursing and she never had to take supplements. It took some time to get the Pheno out of her system, and while the Keppra was better, she still was a pretty sleepy baby for the first three months. I was very concerned about how this medicine was affecting her brain development, but got little info from the Dr.'s, who assured me that it wouldn't. I have to admit I was not convinced. While in the NICU, we'd have these team meetings with all the Dr's studying our case, and when I had asked about the effects of the medicine on her development, the neurologist told me that it wouldn't have a negative impact. "Pheno is an imperfect drug, but it's the one we're most familiar with, so that's why we're using it." I asked him why it was imperfect- what were the side effects, and he didn't really give me an answer. Once we switched to Keppra, he told me that it was the Pheno that was making her so sleepy and limp. I still don't know why he didn't tell me that when I asked, and it made me distrust his explanations a bit. So, I continued to worry about her brain development in the subsequent months, especially since we had been told that there was a chance that the seizure-induced apnea that had caused her to turn blue could have affected her brain, too.

With E I was fairly laid-back about his development. I read up on the month-to-month milestones, and loved watching him reach them, but didn't worry if he was ever behind in some, because I knew he had his individual growth pattern and trusted that he would reach them eventually, which he did. With Belalu, though, we were constantly vigilant about her development, still not sure if the seizures were behind us or if they were indicative of something more serious that was still to be revealed. At two months, the neurologist determined that she could be weaned off Keppra. More anxiety as we waited to see if the seizures would return and relief when it appeared they wouldn't. At four months, we joyously kicked the infernal monitor out of our house for good. Its constant false alarms made us so indifferent to them that if any real emergency happened, I wondered if we'd even notice right away. I was convinced that Belalu was a normal, healthy little girl and the neonatal seizures were just some bizarre occurrence that would be left to marvel at when she graduated college and went on to do whatever amazing thing she was destined to do in the world.

Then, we watched a video of Essie at her age sitting in the bouncy chair, effortlessly reaching for the little velcro toy hanging down in front of him. And we realized that Belalu was unable to do it. At first I thought it was cognitive, but then J understood that it was physical. She couldn't reach out her arms at all. They were almost always bent at the elbows and tucked into her body. I immediately called the birth-to-three program to set up an evaluation. Since she was in the NICU she automatically qualified, but I hadn't believed it necessary at first. They confirmed that this was not normal and were concerned that she held her hands in fists all the time, too. We began to work on encouraging her to stretch out her arms to reach for things and to open her hands more.

By six months, she had made great progress, although her arms could not straighten out all the way. The PT thought that she was holding her arms in like that to help stabilize her balance to compensate for the low tone in her abdomen. At Belalu's well visit the pediatrician noted some concern that her growth seemed to have slowed down. She said that if it didn't pick up by the next appointment, we'd be referred to a specialist. I asked what it could indicate, and she said it could be a problem with her endocrine system. I didn't give it a lot of consideration, however, because I was convinced that everything was fine and in my ignorance, this didn't sound like it was related to the seizures or her arms.

Three more months went by, and all was well as far as I was concerned. And then we had the nine-month well check. I'll leave that one for it's own post.

Our Story: Ten Days in the NICU

That day after Belalu was born and had been sent to the other hospital began a week and a half of surreality (I think I'm making that word up) that I wouldn't have been able to anticipate. I was alone in the hospital room in town, while J and our newborn daughter were in another state. He was essentially all alone, too, as he spent the day helplessly watching as they subjected her to test after test. She continued to have blue episodes, and we were very concerned about how the lack of oxygen would affect her cognitive development. Honestly, I don't now remember all the different tests she underwent, but I know they gave her an MRI and a CT scan. It was a Friday, and by the end of the day they had some additional testing to do, but since it was now the weekend, we would not get any further answers until Monday. So, we had to accept that we would continue to be confused and scared and not have any answers to allay our fears for at least two more days. We felt helpless.

My hospital discharged me as soon as possible, and by Saturday afternoon I was with my baby again. I tried to spend as much time in the NICU as possible, but the nurses would constantly urge me back to my own room as I fell asleep with her in my arms. J was back home with Juju and Essie, so it was a quiet, lonely room, though I was so grateful for the Children's Miracle Network that allowed me to stay at the hospital for free. It was so hard, though, being in the neonatal wing, hearing all those other families loving on and enjoying their newborns and then going home with them as I continued to wait until the day we could leave with her. I believed that my newborn needed to be touching one of us almost constantly- E had slept with us from the very beginning, even while still in the hospital, so having a long hall and many walls between us was a separation that wore on me physically. The few times I left the hospital to get some fresh air and a change of scenery, I think I had something resembling a mild panic attack. I would have trouble breathing, my pulse would race, and I just felt anxious until I was back holding her again. At the same time, I was experiencing my first nights without Essie. I had never been away from him overnight before. Those four days I was worried about when I thought all I'd have to deal with was a c-section seemed like nothing compared to 10 nights in another state.

I'm not sure if it was the pain medication I was taking from the operation or just plain shock, but I felt very little emotion during the NICU days. That first day, I remember looking down at my tiny little girl, who had had a healthy, uneventful pregnancy and had been born on her due date and just wondering- what were we doing here? It was a surreal place. There were no windows and the lights were always very dim. Most of the time, the only sounds were the beeping of machines or the low talk of the nurses to each other. It felt completely removed from the rest of the world. Suddenly, we were in a new category of parents. Our daughter was most likely going to have special needs. We both come from families with very little health concerns- I always took my health for granted. I had stepped foot in a hospital less than five times in my entire life- and almost all of those times were related to visiting people who had given birth. And yet, here we were. I couldn't wrap my head around it.

They finally figured out that the blue episodes were seizures, but this lent little knowledge to her state. We were just going to have to wait and see if there would be cognitive or physical delays; if the seizures would appear throughout her life or if she would outgrow them; if she had a condition with a name or would have no further health concerns. There was one Dr. in particular who was determined to give us an answer as to why this was happening, but at the same time told us that the best news would really be that there was no answer to the seizures, because that meant she might just outgrow them without further complications. Ultimately, that's how we left the hospital: without answers. They had figured out a medication that seemed to stop the seizures (Keppra), but that left her sleeping almost constantly. She was to be hooked up to a monitor in case her breath stopped or her heart slowed, an infernal machine that would go off throughout the night because she liked to sleep on her stomach and this made her breathing shallower. We were trained in CPR in case a blue episode came and didn't go away, and I was petrified she would die in my arms, because I still had a hard time recognizing the episodes when they did come.

Interestingly, that first night I was reunited with her she was lying asleep in my arms and I was just watching her. J and I had been lovingly joking to each other about her short legs since the ultrasound, and her arms and legs did seem to be disproportionately shorter than her torso, with its hugely distended belly. Suddenly, I thought to myself, "maybe she's going to be a dwarf." "Maybe that's all it is." I didn't realize then how many health problems people with dwarfism can have, so at that moment it would have been such a relief to me to know it was dwarfism and not a more dramatic physical disability like CP, which had been proposed at one point as a possibility. When I asked the medical team in the morning if Belalu could have dwarfism, though, they resoundingly told me, no, it wasn't that. This strong negation of my guess then obviously made her diagnosis nine months later so much harder to grasp.

A Stool for Belalu

Our daycare/preschool center is affiliated with the university where we teach, so in addition to each classroom teacher, each room also has a number of university students who work there as well as other students who come in to get classroom experience while taking early childhood courses. It's a great program and has been named one of the best in the state. We've been really happy there, for the most part.

I mentioned yesterday that B's teacher told us she had ordered a stool for her and we had been taken aback, because it seemed like it was too early for those kind of adaptations. I've been thinking about it and realized that what most bothered me about it was her being singled out already, before it seemed necessary. I resolved to talk to her teacher about it tomorrow, when she went back to school.

Tonight, however, was date night, and we're very lucky that one of the center teachers lives two blocks from us. She's still a student, but her maturity level far exceeds her age. She's studying Special Education and hopes to work in our district when she graduates. Her mother was Belalu's classroom teacher until she (B) moved into the toddler room a couple of weeks ago. Anyway, she watched the kids tonight and before she left I asked her if she knew the full story about the stool, because I had some concerns.

She told me she was glad I had asked, because she'd been meaning to bring it up these past couple of days. She then explained that she was the one who had initiated the stool being ordered. There are two sinks in their room; one they all can reach with help of a small stool, though she said Belalu has to reach in more than the other kids, and another average-height one that is where the empty cups end up after meals- they have to toss them in because none can reach to place them in. I asked if only Belalu would be using the stool, and she told me that in that room, it was going to be for all of them. However, it would then move up the rooms with her, as needed. These had been my two primary concerns. She also explained that she had been very intentional when picking it out for her, so that it would have railings that she could use. She assured me that she understood how important it was that Belalu not be singled out or treated differently. In fact, she brought that up before I had a chance to ask. I know a day will come when she'll need some modifications or adaptations made for her, but I'm glad it's not here yet, and I'm so relieved to know she has an advocate keeping an eye on her when we can't be there.

Out Story: Belalu is Born

We had the EV (external version) scheduled on her due date, August 18th at 10 a.m. In the middle of the night before, I had a lot of contractions, but didn't think too much of it. When we got up, E asked if we could take a walk around the block, so we did- literally one block. My contractions increased during the walk, to the point where I had to hold on to J's arm by the end. We got back home to get E ready for daycare and us the hospital, but I quickly realized that I was in labor and we needed to go right then. We dropped him off, and when we got to the hospital I was over 8 cm dilated.

I knew Belalu was still breech, because together with the contractions, I could feel her kicking me- she was lying diagonally. They gave me a shot to stop the contractions and the Dr. came in to tell me we'd be going right into surgery, since they couldn't do the EV if I was in labor. By that point, I had resigned myself to letting go of all expectations for her birth. My low point had been earlier in the week, and at this point, I just wanted to meet her and make sure she was healthy. So when the local anesthesia didn't work, and they told me they would need to give me a general one, I just surrendered and said, "fine." I still remember lying there in the OR with all those people around me, saying good-bye to J and thinking, "I am living exactly what I was petrified of." I wouldn't even be conscious when she was born. My sister, husband, and sons would meet Belalu before me. It was the complete opposite of E's birth. But as I was thinking all this, I was calm because I had surrendered all control at that point. It was what it was. As long as she was healthy, it would be fine.

Once I finally was able to hold her, I was happy to see that she nursed right away. Her apgar score was not great at first, there had been a lot of meconium, the nurse told me. She had been born at 11:40 a.m. and was 7lbs 9oz and 20 in long. Soon after we had met, Belalu was lying in my arms and J noticed that she was turning bluish/purple. I didn't think too much of it, because babies are so funny looking and weird colored at first anyway. But it happened a couple more times that afternoon, and he was really worried. The nurses and mid-wife, however, dismissed any concerns.

That night, everyone had gone home and I was lying in bed, dosing, with her in my arms. A nurse came in and told me the Dr.-on-call wanted to do the newborn exam and it wouldn't be too long. I dosed off and woke up an hour later. It was about 4 a.m. Belalu still wasn't there. I called the nurse and asked where my baby was. She told me the Dr. was still observing her. I dosed again, woke up, and asked once more why they hadn't brought her back. She told me that the Dr. would be in soon. When she came in, the Dr. told me that she had detected a heart murmur and Belalu had turned blue again. They were going to send her to a hospital across the river in another state, half an hour away. They had called an ambulance to take her, but because of my surgery I had to stay where I was.

I called J at 6 a.m. and told him what was happening. When the Dr. had been telling me all this, I was numb and completely calm. When I talked to J, my voice broke. Having to say it out loud was much harder than just absorbing the info as they told it to me. He came right over, and they wheeled our baby into the room so we could say good-bye. She was so tiny in that huge incubator. She just looked so alone, and I reached in through one of the holes to grasp her little hand and give it a squeeze. J followed behind the ambulance to spend the day with her as she underwent a battery of tests. I was left back at the hospital, alone.

Our Story: The final days of pregnacy

It had been so exhausting traveling alone with a toddler three weeks out from my due date. I got home that night and collapsed into my bed. As I lay there, I could feel her flip inside me. I had an appointment scheduled with the midwife the next day, since she hadn't seen me for a month, and she confirmed that the baby was breech. I panicked.

I did not want a c-section. I wanted a completely natural birth. I had had such a wonderful experience with E, and I had been hoping to have an equally great experience with Belalu. Plus, I had E, who had been my constant companion all summer and who I was already worried was going to feel slighted when the new baby came along. He had been super clingy in the past few months and I couldn't imagine that having a baby would make that better. Not to mention, having to stay at the hospital for four days of recovery and then not being able to lift him.... I did not want, could not have, a c-section.

I went to work trying to get her to turn. I had read that sometimes babies flip for a reason, so I didn't want to do anything invasive in case she had the cord around her neck or something equally dangerous. For example, I was offered some homeopathic pills that I decided not to take (and I was forever relieved that I had made that choice, since I had so many what-ifs on my list while we were in the NICU, and this was one less thing to wonder about). I did do handstands in the pool and supported shoulder stands at home. I had done hypnobirthing with E and hadn't really trained with it as much this time, but I did order the CD for flipping the baby. I drove and hour and a half to see a chiropractor specializing in pregnant women. I did acupuncture and moxibustion. I did everything I could to get her to flip back, but nothing worked. The last option was an external version (where the Dr. physically turns the baby from the outside), but it could induce labor. J was due home five days before my due date. I really wanted him to be there for the birth, so we decided to schedule the EV on my due date. I was scheduled to go in at 10 am, and was told to be prepared to have a c-section that day if the EV didn't work.

In all these days leading up to my due date, I felt helpless. I saw a c-section looming and was petrified. I didn't want surgery. On the other hand, all this time I spent trying to flip the baby was time I could have been spending with E enjoying our summer together. This wasn't how it was supposed to be. First, this baby comes out of nowhere and now I'm going to get cut open because of her? How had I gotten to this point? What was happening??!?!? (I'm sure the pregnancy hormones and not having my husband there didn't help my mental state ;) I was angry, I was scared, I was frustrated. I felt completely and utterly helpless. It was my lowest point- those finals days before my due date. Little did I know then, it was all just making me stronger for what was to come.

Our Story: The Ultrasound and the rest of pregnancy

Since I had no idea how far along I was, they scheduled an ultrasound for my first appointment. I was already into my second trimester, so not only did I find out I was pregnant that week, but that I was having a girl! It was so surreal- we had been hoping for a girl, but even that news was a little muted by the overall shock of me being pregnant and having an important job interview two days later. I had essentially skipped the whole first trimester, at least in terms of the waiting game. Mid-August didn't seem all that far away.

During the ultrasound, the technician made a comment about Belalu's legs being short. No one took it any further than that. And when I mentioned this detail to Dr. Pauli last fall, he told me that it would have been too soon to detect hypo based on leg length. But the fact remains, her legs were shorter than average from the beginning. Incidentally, we didn't do any testing. It was too late for many of them, but I wouldn't have done them anyway, just as I hadn't with Essie. I was very upset that I hadn't been taking prenatal vitamins and had been taking birth control, but the nurses and midwife assured me that the baby was healthy. Luckily, I don't drink much alcohol anyway, so while I had had some while unknowingly being pregnant, it would have been a drink here and there. Nevertheless, all these factors raced around and around in my head when we got Belalu's diagnosis and the nagging question is still there: did I do something to cause this condition?- Even though I've been assured by many Dr.'s that isn't the case, I still wonder, how much do they really know about hypo and the factors that cause it?

My pregnancy was pretty uneventful. I had had gestational diabetes with my first pregnancy, but strangely enough did not have it with the second. I did travel to Argentina when I was 7 months pregnant. It was a grueling trip for work and especially hard while bringing a nursing toddler along. Later that summer J went to Spain to visit his family while I went to Maine to visit mine. He didn't want me home alone with E for a month, so I flew back home with Essie by myself three weeks before my due date. Again, more "what-if" factors for us to mull over while in the NICU.

Our Story: Discovering I was pregnant

I had wanted to have kids close in age, but 2011 was going to be a very busy year. We had three overseas trips planned and a trip to the East coast. I was going to be interviewing for a tenure-track position at the university where I had been working on a contract basis since 2005. If things had gone according to the first plan, my second child would have been born at the beginning of Summer 2011, but with the busy year ahead, the second plan was to have him/her the beginning of Summer 2012.

In December 2011, E was still nursing, but it suddenly got very uncomfortable for me. I was nauseous, but not to the point of illness. I just didn't have much of an appetite. My lower back had begun to ache. I was feeling sluggish, but we had just moved E to his own room in a crib and he wasn't taking it well, so none of us was getting much sleep. It was winter, and the cold didn't do much for my exercise motivation. I figured my back hurt because I wasn't getting enough exercise, and I also blamed the lack of exercise on my lack of appetite.

Three months later, we go to Puerto Rico during spring break. I haul out the summer clothes, and I'm dismayed to discover that they are snug. If I overindulge, my stomach is the first place I show it. I was still exhausted, but that was pretty much a common state for me those days with an active toddler, a full-time job, and a dissertation to defend. Then I almost fainted, twice. Suddenly, (yes, really, it took that long) it occurred to us that I could be pregnant. J said it first. I remember exactly where we were in Ponce, PR. I had just left the Music Museum after nearly fainting. It was hot, there was no air conditioning, I could have been dehydrated... I excused it away, but J pointed out that my back was bothering me, my stomach was looking really round, and I was constantly needing to pee. The possibility began to enter my thoughts slightly, but it was still too terrifying to acknowledge.

The first day after returning home, while J was still at work, I took out the other test from the box I had used with E and gave it a try. Positive. I couldn't believe it. I couldn't get ahold of J, who was in a meeting, so I called my sister. She was excited- I was petrified. This wasn't the plan. It couldn't happen this year. I had too much going on. I was on the mini pill and nursing. I couldn't be pregnant. I had an interview later that week for the position I had been working towards for years. I couldn't start a new job by going on maternity leave.

I called my midwife's office and explained that I thought I was pregnant, but that maybe the test had expired and I should get a new one. She asked me what made me decide to take the test, and when I told her all the "signs," she just laughed and told me I was definitely pregnant. We had to schedule an appointment right away, because I didn't know how far along I was. Though December's discomfort did enter my mind, I couldn't believe I would have made it three months without realizing I was pregnant.

In spite of all my logistical concerns, I was actually pretty happy that I was pregnant, since I had wanted my kids to be close in age. Work pressures had forced me to postpone my original plan, but apparently someone else had their own plan, and she wasn't waiting for me to feel "ready" for her. She was coming on her terms. (I have a feeling this is going to be a life-long theme with this girl ;)

Our Story: Introduction

Belalu, May 2012

Around this time a year ago, we were in limbo. We were waiting for an appointment with the geneticist to see if she would diagnose Belalu with a form of dwarfism.  J was pouring over webpage after webpage, trying to determine if she had dwarfism, and if so, what kind. I was trying to stay neutral, waiting to see what a Dr. said before reacting to something that may not have even been true. He would come to me several times a day with medical terminology I had never heard before and couldn't wrap my head around "lordosis" "foramen magnum" "skeletal dysplasia"... My head spun with it all. Then there was the diagnosis. And I began writing here, to sort out my thoughts. However, I never did get around to talking about the year and a half before that: my pregnancy and her first months. I kept meaning to, but just never did. So, now, on the one-year anniversary of learning that Belalu has hydrochondroplasia, I want to do just that. I'll post by stages. I remember first entering the LP world and soaking up every bit of info I could find that could give me some insight into my daughter's condition, so I'm hoping that parents in a similar situation may find this helpful or interesting in some way.

Comments with the "m" word

I didn't think it would happen so soon. Both times it took me completely by surprise, as I suppose it always will. Neither was directed towards Belalu, and so were conversations I happened to overhear.  The first time was about two weeks ago. We were at the Y, and it was someone who occasionally watches Belalu in the daycare center there. We were going into the daycare center and she was holding the door open and commented to a guy she knew: "I figured basketball's going on with all you tall guys coming in- I feel like a midget!" Essie had to go the bathroom, so I hustled him in, thinking about how I could approach her about it. But when we came out of the bathroom, she was gone. I thought about it a lot for the next few days. I decided that it was important to talk to her about it, since she could potentially spend time with the kids and may use the word again. Or even use the word in front of her kids and they would think it's ok to use, too. Or what if one or both of the kids had heard and understood? What kind of example would I be setting for them if I just let it go without talking to her about it? So, I wished I had said something. Then, I saw her again a few days later (I don't usually see her so often) and thought about talking to her then, but just didn't. I chickened out.

The second time was last night. E and I went to his first play. It was on campus, and we had a great time. As we were leaving, we passed the student who has dwarfism (I'm guessing it's acon, but I don't actually know), and stopped to talk to her about the show. Then we went further down the hall and E got fascinated with an antibacterial soap dispenser. The hall was pretty much empty, and as I was standing there with him, a group of three guys appeared and one said in a a low voice to the other two, "did you see that midget?" His friend said, "yeah, she's a theater major." They were speaking amongst themselves, she was already gone, but the hall was so quiet I heard them clearly. But again, since it was not a comment I was "supposed" to hear, I didn't say anything. However, my mood immediately plummeted. I was sad the rest of the night. Sad for what I heard them saying about her, and really disappointed at myself for not saying anything.

I'm not a confrontational person. I don't usually talk to people I don't know or intentionally draw attention to myself. If I had been part of the conversation in either case, I would have spoken up immediately. And after the fact, I know I should have said something even though I wasn't part of the conversation, but in the moment I just couldn't get myself to do it. It took me too long to get over the shock of the comment and then formulate how to respond, and by then the moment had passed. In the case of the first comment, though, I actually got a second chance, and I still didn't do anything. I feel like I have let my children down. I'm not setting a good example, and I'm not being Belalu's advocate. I've been unexpectedly thrown into a role that challenges me and my sense of self. Clearly, I have a lot of growing to do.

The End of February...

...finds me trying to recover from two weeks of being sick. I've had it with being sick. I think I had the flu last week, which has since turned into a sinus infection. I just want to go a day without a headache.

I was so fed up, I braved the Dr.'s office this afternoon with both kids in tow. Belalu caused quite the sensation, as she is more and more apt to do when we go places. She was wearing red cowboy boots, which always elicit comments, and people really seem genuinely amazed by her dark hair and eyes in this nordic/germanic region of the country, but I'd be kidding myself if I didn't admit that of course her size was also a big part of her allure. There were several older people standing around as we checked in, and they made quite a fuss over her, so then the women behind the counter had to peer over and look at her, too. One older woman actually said, "Why are you so small?" Someone else said "Oh, she's just a little peanut!" but mostly, they were commenting on her boots or just saying how cute she was. To all comments, I just smiled. I guess because it's still pretty new for me, I feel the need to document these incidents here. And they don't bother me, yet, though as it becomes more common, my reaction may change. I know they don't mean any harm in it, and I still contend that her charm is much more than just her size. I didn't feel the need to provide an explanation.

After that we went to a community drop-in play group for the first time, and I knew several people there and they knew about her condition, but hadn't seen her in a long while. In those cases, people still say "look how big she's getting!" or "wow, she's walking!", but I think it's just what we're conditioned to say when we haven't seen a kid in a while. I don't find it uncomfortable however, probably because I sense the intention is good, and I know it's more about acknowledging the fact that she's older, even if older tends to be associated with bigger at this stage.

Update on Belalu

I don't have anything big to share, but since this blog started because of her, I wanted to bring it around back to Belalu for a minute. She is now 16 1/2 months old. In the past week she has started nodding her head "yes" and shaking her head "no," and generally they appear to coincide with her actual feelings, so I am able to have these very clear, simple conversations with her. "Are you hungry, Belalu?" ...(nods her head)... "Do you want some cereal?"... (shakes her head and points to the fruit bowl: "dat") "Oh, you want a banana?" (nods her head "nana").

Just this little thing is so huge to me. It makes her seem even more like a person than before, when she was a baby. We are having conversations. Actual conversations where meaning is being exchanged, as opposed to those conversations where she will babble something and I mimic her babble back and people give me strange looks because I sound ridiculous. She makes it very easy to understand what she wants; her communication skills amaze me. We have another hearing test on Thursday, and I will be shocked if they tell us that she cannot hear well; she doesn't seem to miss a thing.

My sister asked me today if Belalu gets comments from people about her size. She had taken the kids to the library the other day and there were two girls around her age- one was also 16 months and the other was a bit older. The moms had asked my sis how old Belalu was, but she said it was in the context of how much she was doing and how strong she was. Neither of the other girls could pull out a chair from a kiddie table and climb into it on their own. She said neither mother seemed interested in a competitive way, they just seemed curious. There was a comment about her being a "little peanut," but it was again in reference to her strength and dexterity.

So, I thought about my sis's question and told her that yes, people often comment about her size, but almost always they just seemed amazed by her. And that's a feeling I share. Maybe I am being naive, but when people marvel at her, it seems to me that it's not just because Belalu is small or "looks like a little doll." They are also responding to that amazing ability to communicate- the eye contact, the "hi"s and "bye-bye"s and little waves she gives as she continues on with her explorations, that amazingly winning smile; her dogged determination to go where she wants to, whether it's into somewhere she shouldn't or up on top of a chair or table to reach something mama thought she put out of reach; her habit of patting her belly and squealing with joy; her pointing at something interesting and exclaiming "uh-oh!"... this girl gets attention everywhere she goes, and why shouldn't she? She is amazing.

Madison Meet-Up

After Dr. Pauli's visit we got to meet up with three other families familiar with hypochondroplasia. Fi is about 2 1/2 months older than Belalu. A is almost three years old, and P is five. The kids all had fun playing together, and the adults had plenty to talk about. It was really nice to meet everyone, and we decided we would coordinate Fi and Belalu's appointments with Dr. Pauli again next year so everyone could meet up again. 

The whole gang: of course we couldn't get a photo where they were all sitting still and/or looking at the camera at the same time ;)

It was interesting to compare experiences. P, A, and Belalu all had neonatal seizures. A is currently weaning off her medication now, so hopefully they are in the past for her. Fi was the only one diagnosed before birth, Belalu was diagnosed at 9 months, A was in the past year, and I think, if I remember correctly, P was diagnosed when he was three. 

The Boys

The Youngest Girls

P and A

I didn't know the other two families before we met in Madison, but was such a treat for me to meet Fiona and her mom after becoming friends via our blogs. Belalu is so lucky to have a friend so close in age with hypo, and we realized that when we're in Vigo, our families aren't too far away, so we're hoping for another meet-up before Madison next year.

Did you notice Belalu's shirt???

I've mentioned before how lucky I've felt to meet so many wonderful people since Belalu's diagnosis, and I definitely felt that way after our visit to Madison. To know there are such loving families just a phone call and/or car ride away makes me feel very grateful and fortunate. 

More on Dr. Pauli's Visit

I forgot to talk about the whole last part of the appointment with Dr. Pauli, so in my next post I'll talk about our gathering post-appointment. (I don't dare say tomorrow, since the way my week's been, it might be longer than that)

Honestly, I didn't go into his office with a lot of questions. I figured he'd know better than us what we needed to know. Basically, I wanted to know Belalu is going to be ok health-wise and I was curious if he could give us an idea of her adult height, since the range for hypo, depending on where you look, is about a foot difference. And we wanted to talk treatments and get his opinion on them.

In terms of her height, he said that right now she is actually still on the AH growth chart, which surprised us because no one else has found that to be true. So, she is way at the top of the acon chart. (There is no hypo-specific growth chart). If this is true, right now she is "tall" for having hypo, but since J and I are both exactly average for our sex, it is most likely that she will also be average for her condition- which I think would put her at about 4'6" at her full adult height. Dr. Pauli said that the best age for predicting adult height is age 2- until then we really have no way of knowing.

After talking to him, we both came away with the impression that she will not be disabled, either due to health conditions or her height. She will face some challenges adapting to a world made for taller people, but she will not be hindered from doing what she needs/wants to do.

This led us into talking about possible treatments. We have decided not to pursue growth hormone therapy. As her mother, I think she is perfect the way she is.  I won't actively encourage the limb-lengthening procedure, but if she decides that it is something she wants to do, I will support her decision. J is approaching things a bit differently. Whenever we talk to someone about her condition, he brings up limb lengthening, saying "if that's something she wants to do." He wants to keep her possibilities open and also I think it assures him in a way that she does have this option. I'm concerned that if we raise her telling her that she can do this in the future if she wants, that we are cultivating an environment in which it is implied that it is something that she should want to do. Of course, a lot of this depends on how we express this idea to her, and we still have some years to figure that out, but we'll be talking about it to her brother before then, and it will surely come up in conversations with others along the way. I want to make sure we're cognizant from the beginning about how we talk about her condition at home and to others.

We also recognize that our perspectives are shaped by our culture. A much higher percentage of little people in Europe decide to proceed with limb-lengthening surgery than in the U.S. (I don't have exact figures right now, though I'd like to find them in my *ehem* free time). Dr. Pauli mentioned the concept of "bella figura" in Italy, where one's exterior is believed to be a reflection of one's interior beauty. J says he thinks the difference between the perception of limb lengthening in the U.S. and in Europe is the difference between individuals adapting to society (Europe) vs society adapting to individuals (U.S.). I would be interested to know others' opinions on this. I have seen plenty of evidence of people in Spain working to make their society more open and accessible to all. I think in the majority of cases, the reasons behind the decision have to be more than just conforming to society, and are likely to be as varied as the people opting to do it.

Since each of us are approaching this subject from a different angle, we had different questions for Dr. Pauli. Recognizing that his answers were anecdotal and not scientific, J asked if anyone who had done the surgery regretted it, and he said no. When I asked if he had met anyone who had decided not to do the surgery or hadn't been given the opportunity to do it and wished they had, he said no. I then asked if he thought that the family culture and one's experience with LPA affected someone's perception of limb-lengthening, and he said he thought that it did. There are many cases, though, some that I know personally, where the parents didn't push the procedure, but the child wanted it.

The limb-lengthening procedure will only get better and less invasive in the coming years, so for now we're going to be aware of it and we'll see what Sabela thinks about it as she gets older.

Seeing Dr. Pauli in Madison

Oh my! How long it's been! Work, a teething then night-vomiting babe (then teething some more), a week of single parenting, accidentally giving my computer a nice bath... all have conspired to make blogging impossible these past few weeks. I'll start more or less where I left off last and try to catch up this week.

We went to see Dr. Pauli in Madison on October 24th. It was challenging with the two kids vying to take attention away from our conversation with him, the office was uncomfortably hot for everyone, and I could tell that those factors combined with the long morning of appointments was wearing on him. Nevertheless, he did a thorough history and then exam of Belalu, then addressed all our concerns for the future the best he could.

History: He said that her neonatal seizures (presented as apnea) were definitely related to the hypo, in spite of what the geneticist had told us. However, when they did the EEG they did not check for temporal lobe dysgenesis, so he wants them to go back and check to see if there is, since in most cases he's seen there has been. Conversely, the cardiologist has been keeping an eye on her for a couple of different things, and he said that he did not believe those to be related to the hypo. I mentioned that at my 17-week ultrasound they noticed that her legs were short, and he said that that would be unusual since the hypo does not usually manifest itself that early.

Currently: Belalu is doing really well. He said she was extremely advanced in speech, and she's doing well walking. He noticed a slight bowing to her lower left leg, but nothing to be concerned about at this time. It's possible it will straighten itself out (though it's also possible it could worsen). Although she cannot straighten her arms fully, and never will be able to, he said even more important for her independence and reaching was the rotation of her wrists, which looked fine. Her ears were "near perfect" and while he still recommends a hearing test to be sure, her advanced speech and ear structure gave him no concerns for now.

In the future: Since she's been off her seizure medication since last fall, we hope she is in the clear, but there is no guarantee. So, when she's sick we should try to keep any fevers down because they could potentially percipitate seizures. We'll have to watch her legs for bowing and be sure to measure her head at each appointment to watch for hydrocephalus, because it could sneak up on us at any time. He said she shows no signs of curvature in her spine. We'll have to watch for learning disabilities when she reaches school-age, but he assured us that beyond that, once she reaches school age, most of her health concerns, if she has any, will have already manifested themselves.

It was a very reassuring appointment. Unless anything appears suddenly, we won't have to return for another year. He also told us the endocrinologist, orthopedic specialist, and the bi-weekly Birth to Three visits were all optional. So, we canceled the first two that we were going to see on Friday and tomorrow the Birth to Three group comes by again, so we'll see what they decide. They had already implied at the last appointment that they, too, didn't think they needed to see Belalu as frequently as they have been.

Tomorrow I'll post about our gathering with three other hypo families in Madison.

Comments

The other night we were at a social event for the kids' daycare and Belalu was walking around amongst the parents and kids. At the same time she took a little fall, a woman who didn't see her kind of tripped over her- it wasn't the woman's fault, and she didn't hurt Belalu at all, but later she felt the need to come up to me and apologize again. I told her not to worry, and then she asked me how old she was.
                     "Almost fourteen months."
                     "Oh. Poor thing! She's destined to have to look up at everyone, even other little kids."

I smiled and nodded, and then her daughter, who was about 7 or 8 added,
"It's so cute- she's so little and she walks!"

They were just being nice, I know, but they have no idea how right they were. The mom's words especially struck me as odd- I mean, why would you say destined to look up at everyone? Most kids will eventually grow to be the same height or taller than their peers.

Also, we've been getting a lot of "Oh, she's just like a little doll!" comments lately from strangers.