People in Pierpont

We haven't taken any photos of Makenna since the Christmas photos. I could write about her cold(s), her 24 hr flu that took 4 days to recover from (feedings can go horrible so fast!) or her recent medical/medical equipment information. I know for some it would be fascinating and I know if a new Pierpont parent stumbled on the site that kind of information might be enough to encourage them to post a reply or follow up with me privately? But to our family and a few others I just think it is the same all over and not worth wasting my time writing about. And I don't think a post without a photo is a good post. I visit many sites, as time allows, and if there isn't photos I don't spend a lot of time there...unless the author is a great writer with a lot to say. I could say a lot but still wouldn't be a great writer so I leave that to others! That only leaves me the option of discussing/commenting on a photo or two.
Here is a photo I have had for months. This is a group photo from the UK Genetics conference in 2007 or maybe spring 2008. I am going from memory on this fact: I don't recall where I found the photo but think it was taken at the Inaugural Joint Meeting: UK/Dutch Clinical Genetics Societies? I expect some of you to see YOUR child's geneticist in this photo. And I hope to be able to fill in some others names. I think I know who three people in the photo are but have 4 faces to three names, or I could be wrong and only have three names and all wrong faces? No, I know I have ONE right. This photo came from a search so I would be able to write to Isabel, about her geneticist. I never sent that letter. But I have been able to find much information about her geneticist after searching the web. She is very committed to her work, and very respected, and upper management in her profession...and still in this photo! I will add here that a search of one person gave me a better understanding of how interconnected the medical community is "over the pond" and how interconnected our family's could be.

What I think of this photo is, "there is a group of wonderful people with great minds!" I realize there is a lot more to their day/week/month than Pierpont syndrome. But we aren't doing much to push them for information about Pierpont Syndrome, or any similar set of symptoms. And Pierpont Syndrome has been mentioned at least 4 times in their meeting's minutes in the last 5 years so they know a lot more than they are sharing. I would like to hear from people who recognice the faces in this photo!!

Time for Some Nudity!

No mater how well you think you can explain tube feeding, or a button to a lay person they always seem surprised when they see it. "Oh", many will say, "it actually goes right into her stomach?" Or something equally profound. Same with Makenna's feet. Her toes have looked like this since birth. I kept hoping she would grow and the feet would morph into something more normal. So she will probably never be a shoe model. Since this has turned in to anomalies 101 I want to add the uneven shoulders are ever present...scoliosis. A view from her back would show a large muscle/bone mass on her right side and a "skinny" left side. Her legs are uneven too (I tailor all her pants and never get them correct). But yeah, she sits great. She does not get in the sitting position by herself but she used to get herself out of this sitting position. It was never graceful and she won't do it anymore. Enough head bumps? Or more loss of ability to turn and put a hand back to help support/lower herself? She will sit until tired of it and throw a fit now to be allowed to roll. I suspect a lot of it is "learned helplessness" a document I will put on the website in the future. But I take most of the blame for that.

How can we make the Clinical diagnosis better?

Matt says, " Williams foot pads don't look like they used to, they have split." There are twins in the Netherland's not getting a diagnosis because of no (minimal) pads? I actually went and looked at Makenna's feet tonight. Her feet do not look the same as they did in July, 2007, when the photos were taken for the AJMG article. There was a perhaps a brief window of opportunity that allowed us a diagnosis?

I do realize the importance of this unusual trait! But I wonder if there is a "window" for the medical professionals have to confirm this anomolie? Is it age related? Is it related to the BMI (body mass index) which I and most nurses can't figure out and plot. Don't get me wrong they are still there. And I think they are sensitive on 'Kenna. She doesn't like you messing with her feet and she really hates shoes... and even socks for that matter? But we have had a long two months of poor feeding. She has lost over 1 lb, and yet grown about 1 inch. And her feet look skinner too.

Do we only have kids that are labeled failure to thrive then pushed to the limit on feeding and then the planter lipomatosis becomes apparent? That probably is not it because Sheri was actually talking about those fatty places on 'Kenna's feet in the first month or two. Long before Makenna was getting adequate nutrition. The pads, on Makenna, are still there and intact but unless you were looking you would not notice them as too unusual today. This is especially true for Makenna because her "middle toe" on each foot is overlapped by another toe: Just like the boy from Ireland!! So all doctors, even geneticists, kinda get hung up on that anomaly. Just, as our orthopedist said, "Well, she will never be a sandal model". It was funnier at the time because I didn't realize how important feet could be to a clinical diagnosis". But his comment was funny then and it still is now to me, but not to Mom.

The point is what should the professional really look at? That is my new argument. Minimal planter lipomatosis? Signs of plantar lipomatosis? Or does it have to be as large as a robin's egg? Or as big as a bantam egg? I realize there may be 20 new syndromes coming out this year which I know nothing about and one may be very similar to Pierpont. So how specific must a trait be to be a trait to define that then? Pierpont is very similar to other syndromes except for the foot pad, being unique. And all the others that are close really didn't fit for us on more than one point. So we need to get off the foot pad a little and say: "there is a 'face' to Pierpont as well!" That and 10 other issues may qualify you, not just ugly feet ... nor little carpenter hands, ya think?

I know there is a face to Pierpont! When I look at the pictures of kids in our club my heart melts. I don't care if it was a boy in Minnesota, or Northern Ireland from 10 years ago or Catherine who is not yet labeled I say, "Makenna belongs in that club". The boy in The Netherland's has the look. I have stared at his photos for hours comparing similarities, he is adorable! The couple of photos of I have seen of William make me want to give him a great big hug. (I kinda miss the one where he was wearing the winter suit and hat.)
I am happy Prof. Brunner is working on a DNA solution! I assume it is years away from being conclusive, as all such matters usually are. But I am very pleased, indeed. And even then there will be kids without a genetic diagnosis but a real strong clinical diagnosis. Where do they go? Back in the "undiagnosed category"? Again, my college degree just says, "I don't paint". And I really want to avoid diagnosing! But my hobby says, "your kid looks pretty similar to my kid, wanna tell me more of your story?"

We are making new friends!

I got a nice email from a mom in the UK, she signs in as adamadamum on a question/answer type site. She wanted to hear more about Makenna. I want to post most of my reply to her on my blog. So I can quit cutting and pasting and writing it over and over. Sorry, if you don't like this post- someone asked. I have panicked and/or fretted over every "label" Makenna has gotten, but not nearly as much as Sheri. I have spent a lot of time searching the Internet about all these labels/issues and it was darn depressing a lot of the time.
We try not to use any of this terminology in our story about Makenna. We hated to hear all of this but it is what we are living, every day.

Labels: Symptoms:
1. Autism, specifically PPD-NOS (pervasive developmental disorders-not otherwise specified)We got that one at about 8 months old from the Early Development Network staff. Once the first milestones weren't met the schools needed a recognized label for services.
2. Cerebral Palsy (CP), got that label about 18 months old. I remember arguing (arguing is a polite way to describe how I was acting) with a nurse to remove that from a chart she was filling out. She was right, I suppose? After a doctor explained it this way, loosely translated, "her brain does not seem to be telling her legs to "walk" or hands and knees to "crawl, and that is pretty much the definition of CP." But I didn't like it one bit.
3. Primordial Short Stature/Dwarfism. Or some form of it could be playing a part in her growth pattern. She has pretty much grown out of that category, I think. And I don't plan on asking anyone about it in the future. But it was a response based on one doctor not accepting:
4. Failure to Thrive, as a real diagnosis. Especially when used in conjunction with a kid who won't/can't nipple or eat food by mouth. But that label, failure to thrive, helped with my fight to get a button put in when Makenna was about 8 months old. We should have never left the NICU with out a g-tube/button. We did have an ng tube during that time. Horrible. We kept hearing, "give her a few months, work on the feeding at home. It will get better." Wrong. And Sheri works hard with her oral feeding skills. All swallow studies have shown aspiration. So Makenna is still tube fed.
5. Scoliosis: Started at about 8 months old, 20 degree. It progressed rapidly there for a couple years. Every six months was a bigger number. It reached 60 degrees/32 degrees. And our last check up in January, 2008 showed it back to about 47/21 degrees. She has worn a brace for 2.5 years. I don't know if I really believe in the brace. The brace was on during the rapid change. And now the ortho wants to give the brace the credit. I don't know? She had a couple growth spurts in there and some of her other systems are making big changes. But we use the brace. Every kid should go to school in a "bullet proof vest". And I could go on at length about the difficulties of a button with a brace.
6. And now, Pierpont Syndrome. Which is, I am sure, a fit. But I always said I would only be happy with a diagnosis that had a genetic test to confirm it. For a while the clinical diagnosis stuff seemed sketchy, probably because I was doing too much of it on my own? Our geneticists were very good to not speculate much, in our presence, about any syndrome. But they had to tell me what all the tests they were running when I asked why they needed more blood. But I am not claiming to be happy with any of these struggles, now am I?

Issues:
There are many and the stories are long. So I will try and condense a lot of this. If any reader has specific questions about any one thing please e-mail me. I will share what I know and hopefully you will correct me on the things I am wrong about.
1. Glasses at 6 months, strabisimus (cross eyed). surgery about 6 months later. Glasses ever since. She tends to chew on everything all the time. She has ruined about four pair of glasses and so many cable temples I quit counting. Her eye sight at her January checkup has gotten better! She went from about +6.2Spherical/+6.7 Spherical in 2005 to +2.25Cylindrical/+1.5 Cylindrical in 2007. She has always been Far sighted. Now her doctor says that has completely changed and she is becoming Near sighted.
2. Otitus Media, Constantly! Ear tubes, 3 different times, there isn't enough ear drum left to put in another pair I guess? But the holes are staying open from the last rejected t-tubes. She doesn't have pierced ears...she has something more special.
3. Hearing aids. She only had one for a long time but the hearing kept getting worse. So she uses two now. She chews on them equally. Chewing up a $200 pair of glasses is nothing compared to seeing a $1,400 hearing aid used as a binky. Her hearing is also opposite of the type of loss usually seen in children. Her hearing is much worse in the lower frequencies and gets better in the higher frequencies. It would be labeled moderate. They hate to push it to severe because mom FREAKS OUT when anyone says that....But I have read it described that way from Makenna's last ABR. She just won't cooperate for a behavioral hearing test, go figure.
4. GERD: Feeding is still a biggie. Have used Alimentum in the past. We are now on Neocate. We got some allergy testing done and may try and move her to Pediasure. Again a label: milk/soy intolerant. We know not allergic but she could be intolerant? And I agree with the GI. She did a lot better once on Neocate and we tried to go back to Alimentum and had trouble. That was a couple years ago. She still doesn't handle a fast rate. We cannot bolus feed. We use a pump and put 205ml in over an hour. She is ready for the rate/dose to be increased to just below the vomiting point. Have used a daily course of antacid for years. Prilosec currently, she is doing well on it. This reminds me to warn you at some point in the future you will get to read a huge RANT from me about generic medicine!! Be warned.
5. Vomiting! Oh, I am too tired to talk about that. It is getting better. A lot better, but not perfect. And she does it to herself more and more? The slightest breeze in her face used to set it off, but that and things like that are getting better.
6. She hates shoes and socks. Not crying about it or anything like that. But she is able to get them off now, unless they are laced up.
7. Constipation: Always been a problem. Miralax seems to still be working good for her. We have used others. The whole gut motility thing is screwy.
I will end here. That is a majority of the info that helps paint the Big Fuzzy Picture.