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.