Wednesday, July 30, 2008

OT Update

We had some exciting news from Zoe's OT, Judy yesterday. Judy does both OT and PT with Zoe once a week. Gavin and I do an intensive therapy routine with Zoe five days a week and her teachers at daycare do a light therapy routine when she is there two days a week. We started a standing exercise (we do some Medic exercises with Zoe for those who are familiar with Physio) last month and Zoe has already picked it up (amazing for Zoe to pick up on a new skill in a month!) Zoe has been doing really great at the standing exercise and I was very excited to show Judy how well things are going (Judy had been away for the last two weeks). Judy was so surprised at how quickly Zoe has picked up this exercise and I could see the excitement on Judy's face. Judy started talking out loud about what the next steps are and said in an excited voice, "You know what this means right?" I didn't really understand where she was going with it, so I just said "Sure" and laughed. Judy said, "This means that Zoe can weight bear. This means that Zoe has the bone, joint, and muscle strength to weight bear. Which means that Zoe will walk some day. It is going to take a lot of work and time, but Zoe will walk." I don't think I really let this sink in until today. I guess Gavin and I have always assumed Zoe will walk. When we bought our house we planned for worst case scenario and went with a one floor bungalow just in case Zoe needs a wheelchair or walker. But we have always been hopeful that Zoe will walk independently one day even if she needs a walker or wheelchair initially. So, now that I have had time to think about it- Judy's statement is quite exciting. It is great to hear that Zoe will walk some day. We know it is a long way off for Zoe and will take a lot of work, but it is very encouraging to hear that she will walk. And it is also encouraging to hear that all of the work we are doing with Zoe is paying off. It is exhausting doing constant therapy with Zoe and sometimes frustrating as we see other kids are able to achieve skills without the intense therapy. Zoe is one of those kids though that needs constant intervention. So, it is nice to know that what we are doing is benefiting Zoe and that it will pay off in the long run.
Belly Pivot
The other exciting thing that Zoe is doing is she is starting to move on her belly when doing tummy time. She kind of spins in a circle at this point (a very slow circle) but it is great to see she is moving for toys. She can roll onto her left and right sides from her back but still can not quite get all the way onto her belly. So, we use a wedge to give her some help with gravity and she is able to roll all the way over. This way she gets the feeling of rolling and it will create that mind/body memory which helps her seek that stimulation as she builds muscle strength.
So, what's next? Now that Zoe understands how to stand (with a lot of support and balance from us holding her), we will work on building her endurance. Currently, she can hold the stand for about 10 seconds. We will work on slowly increasing that time and her endurance. We will also continue to work on all the other skills (rolling, sitting, banging, clapping, eating, sign language, etc).
Sign Language
Another interesting observation Judy made is that she feels Zoe's language development is being held back by her fine motor skills. It is becoming obvious that Zoe understands a lot more signs than she is able to sign. Her speech therapist is coming in two weeks to start work with a "button" that Zoe can hit and it will speak a phrase. We will continue with the sign language while exploring technology to help Zoe express herself. Zoe loves when we sign with her and do hand over hand signing (she smiles and laughs) so at least that is one of the therapies she can enjoy.
I will try to get Gavin to record and post some video of Zoe standing. We are so proud of her!

Tuesday, July 29, 2008

First Official Ontario 1P36 Get Together

Sequoya (5 years old) and Zoe (17 months)

We organized the first official Ontario 1P36 get together this past Saturday at Rock Point Provincial Park. We had one family show up from Buffalo, New York (Sequoya is 5 years old with two older sisters and one younger sister). So, as it turns out, we were the only Ontario family who could go. The park was a little out of the way but it was a nice setting. It was wheelchair assessable and had lots of open space for kids to run around (and Sequoya loves to run around). It was great meeting a new family and it made us decide that we would like to organize a couple of get togethers a year in different places so that if people are unable to come to one, they can come to another one. As always, it was good to see where a 5 yo with 1P36 is at. It gives us hope in some ways and hits us with a dose of reality in other ways. It reminds us how much work we are going to need to do with Zoe in the future (as if we aren't working with her now!) We can tell that Sequoya's parents have put a lot of time, energy, and love into raising her. It was great to see how steady she was on her feet and to hear her say "more."
Zoe's first camping trip
After the BBQ abruptly ended with the rain, we went to our campsite to pitch our tent and put Zoe inside for a much needed nap. Zoe did great with the camping but we did notice she napped a bit more. It turned out to be a great afternoon for us because Zoe napped and we sat around talking and reading our books (imagine that!) We did wake Zoe to feed her since we didn't want her waking up at 4am hungry. Zoe was a little confused about eating in the dark and gave the trees a curious look in the morning like "Hey trees, why are you still in my house?" We are planning a five day trip next week with our friend Amanda and we are really looking forward to that. Camping seems to be a great holiday idea for Zoe. She may need to nap because of all the stimulation but then we can just hang out and not feel antsy since we aren't trying to fit in any sightseeing. We do have the hiking backpack so we can go for walks when Zoe is up to it. Zoe does get over stimulated when outside and does some arching and crying, but she seemed to calm down easily in the tent.
Zoe biting her fingers
One thing we hoped never to have to deal with is now happening. It is very common for 1P36 kids to bite their hands, fingers, and wrists. The kids don't seem to notice the pain involved and are looking for that oral stimulation (some of the kids also bite to show their frustration). Zoe came home with a deep bite mark from daycare on Friday and has continued biting at that finger. She now has another deep bite on another finger. It breaks my heart to see those little fingers bleeding. Zoe does seem aware of the pain however, so this gives me hope. When she bit herself and was bleeding at the BBQ, she suddenly started arching, crying, and looked at me. So we just tell her, "That is you doing that Zoe. That is your finger. You have to be gentle with your fingers." We are also encouraging her to bite other things like her chewy bear. The only problem with that is Zoe does not have the coordination to hold something to her mouth to bite it. So we have to sit with her and hold the toy for her to bite it. And as you all know, we can't sit there holding her chew toy all day when we are trying to do therapy, go to doctor's appointments, feed her, etc (not to mention clean the house, shower, cook meals).
Opthomology Appointment
We had some good news at the opthomologist last week. He said that he can definitely see improvement with Zoe's vision since she started wearing the glasses in April. We have noticed that Zoe makes better eye contact and will track a little better but it was very encouraging to hear the doctor say he saw improvement. We will continue with the vision therapy and glasses and return to opthomology in six months to try the VEP (visual evoked potential) again. Zoe did not respond well to the VEP last time because it involves a lot of flashing lights and she kept closing her eyes and arching. She also kept pulling the electrodes off of her head. Hopefully she will be able to cooperate in six months. Either way, we will see the doctor again at that time. It is encouraging to hear that Zoe is progressing.

Wednesday, July 16, 2008

1P36 stuff

Hey all,

we have yet to post a full history for Zoe, but that is a major project so we are taking it one piece at a time. Today's piece- what is 1P36? There is a Wikapedia site that covers most everything, and has a very cute picture of who I think is a young Whitney (Nate and Melanie's little girl- there is a link to her blog on the right there). It's pretty good- some of the info may have changed a bit though. Anyway, just FYI here's our take on 1P36 and Zoe in particular.

1P36 is a chromosomal deletion syndrome where a small piece of the end (the terminal end) of the short arm (the p arm) of chromosome 1 is missing. It is classed in a couple of different ways- the very specific where they count the missing base pairs of DNA segments (we don't know this for Zoe) and the not so specific where they identify the general segment of the 1P36 p arm where the break point occurs. The is generally classed as 1P36.1 (the largest deletion), 1P36.2 and 1P36.3 (the smallest amount of missing material).

So I was going to go through a list of the characteristics of 1P36 kids, but I'll direct you to the Wikapedia site instead. Here it is-

On to Zoe. Zoe has 1P36.1, the largest type of deletion. Her's occurred as a result of an unbalanced translocation of chromosomes at the time of meiosis (creation) of the egg or sperm- whether this was maternally derived or paternally we don't know. What happened is a piece of one of her 13 chromosome (I'm going to presume you all kind of understand genetics and how there are generally 23 pairs of chromosomes) jumped onto the end of one of her 1 chromosomes. This kind of translocation can occur in anyone, as long as nothing is lost (balanced translocation) there are no ill effects for that individual (though it can cause problems if they go on to have kids of there own). So Zoe, technically, has only 35 chromosomes, as one of her 13's is joined on her 1. When the 13 piece jumped, it knocked off pieces of the 1P36 and the entire 13p (small arm of 13) chromosome, so technically she has 2 chromosome deletions. We were told that the 13p segment was insignificant genetically speaking (though I have since learned that some 13q deletions are not such good news, so we got lucky there). Her deletions are classed as "de novo" meaning just by chance, or, in other words, she just lost the genetic lottery that causes 1P36 in an estimated 1 in every 5000-10000 births(surprisingly common, actually- it's thought to be the most common chromosomal deletion syndrome).

With Zoe, the clinical manifestations of 1P36 show up in a variety of areas. I'll break it down for you into systems.


Zoe has or has had a number of heart defects present from birth/soon after birth- an atrial septal defect (ASD), a ventricular septal defect (VSD), a patent ductus arterious (PDA), a weird ass tricuspid valve (yes, weird ass is a medical term), Left ventricle non-compaction cardiomyopothy (LVNC) and hypertrophy of the right atrium (as a possible compensation for the LVNC?). Most of these things have healed up on their own and don't show up on her echocardiograms (ultrasound of the heart) anymore, leaving her with the funky valve, slight hypertrophy (thickening of the heart wall), and moderate LVNC. The most worrying thing is the LVNC- it is a condition where the muscle wall of the left ventricle doesn't form properly in utero- it has a spongy (i.e. non compacted) appearance and can't push the blood around her body as well as it should. It's a rare cardiomyopothy, though we have now found 4 other 1P36 families whose kids have it, thus suggesting a correlation. Her ejection ratio (ER)- the percentage of blood in the ventricle that gets ejected per heart beat- is currently around 40%. The norm is around 65%. She takes Captopril, an ACE inhibitor, to lower the blood pressure in the major vessels around her heart, thus making the heart work less hard (terrible grammar there, but too bad). This is good because if the heart works too hard the tissue becomes fibrous, and if that happens too much the heart fails. This is not a definite thing, but if it does happen Zoe will need a heart transplant. Some people this never occurs, and they die at 95. Some, well, it does.


Like all kids with 1P36, Zoe has a profound speech delay. She has not developed the typical pre-verbal behaviours like typical cooing, consonant sounds, babbling, etc. Zoe is typically a very quiet little girl. Time will tell how much speech she develops. She is learning sign language though- 3 signs and counting!

Hearing- Zoe is somewhat hearing impaired, though to what functional extent we don't know yet. We see audiology every 3 months or so.

Vision- Zoe is quite far sighted (meaning seeing things close to her is tricky). She wears glasses as often as possible that have a pretty significant prescription in them. We have seen significant gains in her tracking and focusing in last couple of months- glasses on and off.

Development- Cognitive/Emotional/Social/physical

Zoe is learning new stuff every day, but it takes her a long time to learn things. Rolling took over a year, as did using a cup. Her eating has always been amazing, though slow and an enormous time commitment for us all. Breast feeding was a huge effort for her and Genevieve, and I am so proud of both of them for doing it because we feel it had a huge impact on how well Zoe is doing now. She is learning to sit unsupported for a few seconds at a time (up to 20 so far, and much longer with minimal support) and developing her standing muscles. We don't expect immediate breakthroughs, but we have seen some great progress in just the last week or so. Just like everything else with Zoe though, it takes time, and a lot of effort on her part (and ours).

1P36 features

Zoe was born with a number of the typical characteristics of 1p36. These include noticeable things noted in the literature like flat nasal bridge, wide spread eyes, pointed chin, small mouth etc and other stuff like microcephaly, large fontanels (soft spot on the skull- all babies have them), a sacral dimple (non communicative) etc etc. She also shares a lot of features that we've only seen by talking with other 1P parents- she doesn't produce tears, for instance and she is extremely fuzzy, like a lot of 1P 36 kids. When the kids get together you can really see what the geneticists talk about when they look for the characteristic dysmorphic features of 1P36- all the kids look like cousins- similar yet different. Very similar. And all very beautiful.

Anyway, I can't think of anything else to say about Zoe and her 1P36 stuff. I'm off to make dinner. Hope this has been a useful primer. Next up- Zoe's history!

Wednesday, July 9, 2008

Zoe and her sippy cup- the valve is in!

Hello all. I am at home today (I don't work Wednesdays, which is really nice) and am currently putting off going out to mow the lawn (which in our absence has become more like a jungle) so I thought I would update you on another new development. It has been a great few days with Zoe (even though she seems to have picked up a cold and a mild fever today). She has really showed some great progress in the last week or so. The weight gain is amazing, and a huge load off our minds. We had been hoping for her to break that 7 kilogram barrier since November and she just blew it away. Especially significant is that she did it in the month she weaned herself, showing us that she can keep herself hydrated and gain weight when she is off the breast.

The other piece of exciting news is how well Zoe is using her sippy cup. A month ago she could take a couple of ounces, poured into her mouth from the sippy cup with the valve out, thus mitigating the "sippy" factor into more of a "poury" factor. She just wasn't able to generate enough of a suck to get anything. Thus when she stopped nursing we were pretty worried she would be able to get enough. It has been a pretty stressful month of trying not focus on her eating and drinking while all the while being totally focused on her eating and drinking (kind of like trying to ignore the large pink elephant sitting on your dining room table at mealtimes). Anyway, while we were away she seemed to be sucking more on the spout of her sippy, so when we got back we put the valve back into the cup to see how she would do. We had done this before with no success, so were not expecting miracles. Well, Zoe surprised us and has been doing amazing! Just today she has already taken about 10 ounces of Pediasure/milk in two sittings (it's only 10:30 AM). That 's more then her entire daily intake used to be. We started with the cup about 10 months ago (she would never take a bottle) so the fact that she has finally got the strength and coordination to use it (ie in a "sippy"manner) and that she put this all together in just the 2 days we have been back is wonderful. Of course, now my mind is thinking "okay, next step is to have her do it independently" but then I tell myself to slow down a just celebrate one thing at a time!

Well, the lawn isn't going to mow itself, so I should go. If you don't hear from me again I have probably perished in our jungle of a backyard, mauled by a marauding jagular who migrated northwards from the depths of the Amazonian rainforest to stalk through the long grass, tree like weeds and snaking vines of our yard in suburban Scarbourough. Of course, I could also run into our friendly neighbourhood skunk who lives underneath our front step- not a happy proposition either : )

Tuesday, July 8, 2008

A Post Just for Aine and Ailish

Zoe with Ailish, mommy, and Aine
Zoe is wearing the fourth of July dress that the girls used to wear
Visiting with the amazing and wonderful Ailish and Aine
Part of our trip to Philly included visiting with twins that I used to take care of. Believe it or not, I started watching Aine and Ailish when they were only three months old! It was such a surreal and awesome experience to visit with the girls and have them play with my child. Aine and Ailish are doing such amazing things now- running track, swimming in the Junior Olympics, basketball, writing winning essays, making their own movies, etc.
Thank you for visiting with us and know that I miss you both so much.

Our PA trip/ Joe's wedding and Zoe's weight gain

Zoe with Uncle Joe and Aunt Kristen

Visiting with Friends and Family
We are still recovering from our big PA trip. We had a great time visiting with friends and family. We have now learned that travelling with Zoe takes a lot longer than it would with a typical child and we have to pace ourselves. We were not able to see everyone we wanted, but decided to shorten the list of people and really spend time with the people on the list. We had a great time showing Zoe off to old co-workers at the Children's Hospital of Philadelphia, visiting with Aine and Ailish (twins that I used to take care of), and hanging out with various friends and relatives. Zoe, as always, just went with the flow and did such a great job staying calm with so many new people to meet. She did a lot of arching, but we figure that she was overstimulated most of the time. Zoe also did not eat very well but drank a lot on the trip. Since it was so hot in Philly (we forgot how hot it can get!) we figured all the drinking was a good thing. And apparently she was getting enough calories.
The Big Weigh In
We went to the doctor yesterday to check Zoe's weight (previously, she had not gained more than 3 ounces since last November) and had a great surprise- Zoe gained over a pound this last month! I was so excited when I saw those numbers that tears immediately came to my eyes. Gavin and I have been so stressed out with Zoe weaning herself and not eating very well. We kept worrying that she would lose weight. But Zoe has shown us, yet again, that she knows exactly what she needs. Zoe's head has also grown a little. We could see how relieved the doctor was to see Zoe finally putting on some weight and head cm. Dr Taylor is an amazing doctor and really gives Zoe a chance to do things on her own first. Even though we have moved and her office is an hour away, it is worth making the trip every month because we know that the doctor is making choices with all of Zoe's development and social situation in mind. Now that Zoe has totally weaned herself and is taking pediasure and cow's milk, we have decided to stop pumping. I say we even though it is me pumping because we have made this decision as a family. At this point, I am pumping for about an hour total a day and getting less than 5 ounces total. It just is not worth the effort and time for such a small amount of milk. The doctor agreed with this plan. I am a little nervous that taking away the breastmilk will affect Zoe's growth and immunities, but we feel that it is time. Zoe has shown us that she does not want to breastfeed anymore so we are following her lead.
Zoe Signed Mommy
Zoe is really picking up sign language now. Zoe is consistently using milk and eat when she is hungry or wants a drink. She is inconsistent, but trying with all done. Also, for the first time ever- Zoe imitated mommy on Sunday night. We were very excited to see this. I kept thinking "My little girl has finally said mommy!"
Getting back into a routine
When I was doing Zoe's PT yesterday, I noticed that the arching is less since we got home. Also, Zoe's sitting skills are really progressing and she will sit for about 20 seconds before falling over. She is still very tired from the trip and is sleeping a lot. Since Zoe has vision, speech, and OT/PT coming this afternoon, I am letting her sleep the day away until they get here.
More people coming to visit this week
Gavin's mom flies in tomorrow, my brother Tom, his wife, and their four kids drive up tomorrow, and Gavin's aunt Patsy is visiting from Bangkok on Saturday. So we are going to have a full house and we know Zoe is going to be over stimulated again. We will get back into a routine once everything settles down. For now, its more important that Zoe get her sleep so she can keep on eating and packing on those pounds!