Wednesday, December 8, 2010

No feeding tube

Ellie weighed in at 10 lbs 3 ozs yesterday, so there was no NG tube requested by her GI doctor!!! We were given 3 options for continuing feeding- the currently method, plus pear juice for constipation, regular formula + oatmeal, or regular formula + oatmeal cereal+ polycose and pear juice for constipation. Evidently the GI doctor is not a fan of AR, I have no idea why. However, I can't say enough good things about it; if we had used it earlier Im sure we wouldnt have had the brush with the NG tube. The nutritionist said she didn't understand why they didn't like AR either, but in either case I suppose its water under the bridge. Now, it appears we have to deal with the sniffles passed from father to daughter. I hope it doesn't get too bad for her, her Baptism is Sunday! She looks like an absolute angel in her Baptism gown, I can't wait.

Wednesday, December 1, 2010


2 months, 6 days to go. I went and looked at some photos of a "former" PRS baby who did not have distraction. I think Ellie's jaw is even better than hers was and so (1) Im eternally grateful to the mommy who did that blog (Ill send her a thank you note shortly), and (2) it makes me reconsider her plastic surgery appointment I scheduled a month before her surgery. But its December and so Im scared. Getting closer faster. And with the holidays this month, it might as well already be January.

Sunday, November 28, 2010


It appears I have jinxed myself. Ellie was doing so well, eating 6 ozs at every feeding with minimal spit up; in fact, we had no spit up at all for about 2 days in a row. So, when, on Friday, I announced my love for Enfamil AR and the joys of the new concoction we call formula+ I should have known it would be down hill. The vomit is back and frequent. She's back down to about 3 ozs a feeding. She's still hitting the overall target of what she needs (about 14-18 ozs) but its not as rigid, structured, and, well frankly, enjoyable as it was the first 5 or 6 days. I am now back to being worried about her weigh in next Tuesday.

Friday, November 26, 2010


Yes, I realize its the morning AFTER Thanksgiving. So Im thinking Thanksgiving may be my favorite holiday. I found out last year Thanksgiving morning I was pregnant, and this year my giggly girl watched the parade with me in my bed. I was so happy most of the day I was teary-eyed (btw, what up with that? I was NEVER a crier before I had her, now I cry all the time!). I had to make a quick store run (was painless, really) to pick up milk and so I also bought non-toxic paint and we painted her hands and placed them on a piece of paper for "hand turkeys." She was not amused, but we were. And I think a lot of her family will be as well. Its pretty freaking adorable. Also, I got a TON of things done while the daddy-daughter bonding was occurring. I have to say, I dont remember the last time the living room looked this clean! I dusted, I vacuumed, I made a dozen bottles. Im still trying to organize some things (baby stuff, of course like magazines on the shelf and spoons, bowls and sippy cups in the kitchen) but I have to say between me and my lovely hubby we got so much done!

As for an update, Im on here because I believe its no longer a fluke- Ellie really is eating better! I was so worried the first day she was starving and the next day or so that she was just enjoying something new but we're up to Friday and she is wolfing these bottles DOWN. Not only that, there has been almost no spit up at all! Its amazing! Its damn near miraculous. Im considering calling the Vatican. She eats 6 ounces at nearly every feeding (doubling her usual 3 ounce intake), skyrocketing past her normal daily intake. She's averaging 18 ounces a day, when the GI Dr said she only needed 14, and I had calculated closer to 15 (14.5 to be exact) for hydration. Im really trying to be cautious and remain optimistic. All signs point to one fat, happy baby though!

On a related note, I love my mother in law. I know, Im one of the few. Yesterday she reminded me why I love her so much (although to be honest, I think about what an amazing person she is all the time). The minute she read the email I had sent to the family about the disappointing GI appnmnt, she called us. She started out with Happy Thanksgiving, asked if I was in the middle of something (so polite) and when I responded no I could hear her sigh in relief that we could talk about the situation. She sounded so worried and sad about what had happened, and then tried to cheer me up by expressing how wonderful she thought I was doing with Ellie, how she knew we were trying so hard and doing everything we can, and we were doing such a great job and fighting so hard. It was really sweet. My mother in law used to work in nursing homes, and her generous heart knows no bounds. She bends over backwards repeatedly to make everyone happy. I dont think she's had a hot meal in her life- the minute your glass is empty or food looks low she jumps right up. She often gets trampled in the process, because she allows herself to be kind to a fault (read: doormat) but I really dont know anyone who really gives until it hurts. I have no doubt there is a special place in heaven for my mother in law.

Tuesday, November 23, 2010


First, I love him, I think he's brilliant. He and I are on the exact same wavelength. I dont think Ive had an easier discussion with a doctor. He was very, very helpful and I can't thank him enough. He gave us a very important prescription- TIME. Ellie is running short on time to gain weight before her surgery. If she cannot gain enough weight, not only will her surgery be postponed, but she will acquire a lovely NG tube. I have expressed my desire to avoid the NG tube at all costs from day one, but we're running out of time. She needs to fatten up and she needs to do it NOW. Although he said the NG tube would only be used at night, she would have to wear it all day every day. So she'll look... well... not unattractive... but like a baby with a tube hanging out of her nose. No more Gerber photo shoots for her, ha ha. He tried to explain how it would ease my stress, because instead of begging, pleading, wishing and praying she would take more in, she would. And I wouldn't have to do it, it would just be done. I appreciate him trying to put a nice spin on it but the reality is my daughter will have a tube running down the back of her throat pouring food into her stomach all night. He did say he would help me stall against time, offered me more ways to fatten her up (polycose and oil- as in canola or olive). He also asked about the distraction surgery, I explained with any luck Dr Williams (her plastic surgeon) will continue his advice against it, but just in case I have an appointment with him Jan 13th. I also mentioned her teething and that teeth help pull the jaw forward. My follow up with the GI doctor is the next day, Jan 14th. So it may be a moot point if Dr Williams postpones palate to do distraction.

I have 2 weeks to help her get up to 10 lbs. This will be the scariest two weeks of my life. I realize that in the world of PRS (and sometimes the world in general) an NG tube is pretty low on the things that often happen. Its not a trache, its not a regular G tube- theres no surgery. And I know my angel comes with some serious battles I have to fight. I just hope this is one I can win.

Monday, November 22, 2010

4 month pedi appnmnt

Ellie had her 4 month wellness check up. She was laughing and cooing and carrying on in the waiting room but silent as a charlie chaplin film by the time we got back to an exam room. This actually worked to our advantage as you'll read in a second. I need to skip ahead so this will not be chronological. Long story short, she's doing great. She is still way ahead in her motor skills- she sat up to a 45 degree angle while we were there (I am convinced she'll be pulling up to sitting before 6 months), exhibited excellent head control, watched everyone move around and talk. I told him we let her drink like a big girl (from a tiny bottle without a nipple- only 10 ml) and when we put her in the high chair she sits like a big girl, and when we fed her cereal from the spoon she gladly grabbed it to help me guide it into her mouth. The doctor decided he wanted to hear her cry because she had never done so at our previous appointments, so her previous giggles that had been stifled worked to our advantage. Of course after she began to cry (it was her, "this is annoying please stop" cry) he decided he liked it better when she cooed and giggled. Well, duh. She took her shots like a champ- she screamed at first (which in my opinion she has every right on earth to do) but after I held her and kissed her we were all back to normal. Even cooing a bit.

Here's where it gets out of order- her weight. Usually they do this in the very beginning but in my story its got a life of its own and deserves a separate paragraph at the least lol. At 4 months of age my dainty darling weighed in at 9 pounds, 6.5 ozs. I was heartbroken. I was hoping for at least 10 lbs. I felt guilty. Logically and rationally I realize I did indeed do all I could- I added rice cereal thinking it would plump her up. I was in constant contact with our feeding and nutrition team at CHOA. I fed her a bit more than she probably would have liked to consume in hopes of stretching her stomach. I tried to feed her every 3 hours. I often did not take "no" for an answer when offering her a bottle. We tried polycose even tho it didnt work. When she had a bad case of vomiting last week (I assumed it was reflux since she had no other symptoms of anything else, unless it was teething but it seemed more formula than spit) I immediately called the pediatrician (who told me to wait until our appnmnt today). But being a mom, I was consumed with a mother's guilt. Especially when he said take the rice cereal out as it wasnt helping. I was devastated. I thought I was helping. I honestly did. And now to hear that I wasn't... like a punch to the gut. So she COULD have weighed more if I had just not been retarded and added rice cereal... at least in theory. She probably lost a bit in all the vomit last week but probably not half a pound. At any rate, he wants out of the loop, so to speak, on her feeding and diet. We already have CHOA and tomorrow we'll have the GI doctor so he feels that's too many cooks. He did give us Enfamil AR to hopefully help control her currently out of control reflux. He gave me 2 samples, I thanked him and put them away. I got home and made her 4 bottles with it, fed her one of them to see her reaction. She seemed fine with it. I read the label: dairy based. Now, it seems to me we were fairly certain that Ellie had issues with milk and thats why we switched to soy. Although to be honest, her first few months on formula she was on soooo many it was hard to keep track of which made her happy, which didnt, whether it was reflux or bad formula, etc. Her vomit this evening did seem to be a lesser amount, but maybe that's because its more like cottage cheese than formula. In which, by the way, I am covered. Anyway, I emailed the nutritionist at CHOA asking her if we need to change our ration of formula to water (its 3 scoops to 5 ozs right now). Another special needs mommy said she's on the same formula and was told to keep the same ratio *Shrugs*.

Saturday, November 20, 2010


So we went on our second date night, nothing exciting- red lobster. For some reason tho my anxiety about leaving the baby skyrocketed. The first time - no issues. Second time- terrified. Maybe I was in denial at first lol.

Monday is her 4 Month Appointment, Tuesday is her appointment with the GI. I was originally going to cancel it but it seems her reflux has gotten completely out of control. The last 2 days have been nothing but vomit. It could be her teething but I dont think it is because its not always clear. BTW, got great info from my babysitter's mom about teething. My babysitter works with her mother at a daycare center and that brings me much relief. She is a great, smart, reliable girl who is very responsible. The fact that she and her mother are devoting their lives to helping raise other people's children makes me feel good. So anyway, my babysitter's mom said that (1) the low grade fever hits about 24-48 before the tooth breaks through so we'll keep an eye out for that- so far no fever. (2) The gums will look like someone beat the crap out of her- very red and swollen. (3) The first two teeth are the hardest, its all good after that. (4) She'll probably like the ice and/or frozen washcloth the closer the tooth gets to breaking through. Right now she acts like Im feeding her razorblades.

Anyway, back to vomit lol. Its been pretty nonstop but the pedi said if she has no fever, no pain, and she keeps peeing then it can wait til Monday. My concern though is all the weight loss that may have occurred so far. If our goal, and by "our" I mean the team at CHOA that call me all the freaking time about how she's not eating enough, is to beef her up, a lot of vomiting for a few days can't possibly be helping that goal.

The real issue with teething is about her jaw. She doesnt have a lot of room on her lower jaw for many more teeth than 2. This makes me think she may end up with distraction after all. Maybe Ill post on the PRN board to see if anyone else has had no distraction and teething before the surgery.

Thursday, November 18, 2010


I belong to a support group for PRS. Its a fantastic group, can't say enough good things about the Peirre Robin Network. There is a link to it on the side of my blog. A new member with a 4 week old son was concerned that he had failed the hearing test, as is frequently the case with PRS babies- the condition causes narrow canals and sometimes flatten faces so the amniotic fluid cannot drain from the ears. Often tubes drain the fluid and things return to normal. Today, however, I saw this response from another member of the PRS network:

My son has PRS, and is now nearly 11 years old. He didn't have any hearing issues until he was 8 years old, when he failed a hearing test at school. He had fluid in his ears which didn't clear up, so his ENT recommended PET, but also recommended a CT of his middle ears to look into the hearing loss further. The PET didn't improve his hearing, but what the CT showed was a bony fusion of his incus and stapes (the tiny bones that conduct sound waves) in both ears, with the left being worse than the right. According to our ENT, this is common in PRS children. He currently wears hearing aids. He will be a candidate to have surgery to "unfuse" these bones when he is older, and bigger.

So, while the fluid issues for Joshua may clear up as he gets older, there are other issues that can develop.

Really?!?!?! I mean CMON REALLY?!?!?! Maybe because they didnt catch the fluid early enough it didn't help, but since its a bone issue maybe the fluid is a moot point. I can't even type the anger and sadness I feel right now. First and foremost, I was really hoping Ellie would be one of those babies that "outgrows" her PRS. Maybe she still will be. Second, you tell this to a father of a 4 week old?!?!? Way to scare the SNAP out of him. Look Im all for giving the heads up with this condition but good Lord. Let the man come off the wave of confusion and depression that accompanies this before you start slamming with all the "Great" things that happen as the PRS babies age. Her son is 8, why not let this baby get to age 8 and have a question before warning him of a possible bridge ahead? Let him get there, ask about i, and THEN cross it!?!?


Yesterday was a pain- Ellie hadn't slept all night and didnt want to nap during the day. This meant I could get little to nothing done. I can accept that, Im a mom. Of course after 2 days on P90x I was sore as crap and really had no muscle strength so I couldnt hold her all day so there was a lot jumping from swing to bumbo to papasan. Husband was a jerk. I was really hoping today would be better. Honestly. Unfortunately all the saliva Ellie is making from teething has caused her to vomit repeatedly- she's currently in her 4th outfit and she's only been awake for 5 hours. So here are the good things that happened to me today- I found a nice uplifting quote. My in-laws sent me a Tday card, and Ellie a Tday card. I was able to get my work out in, albeit with many pauses and holding baby. Still need to do my sit ups. Middle ground- I am re-reading The 7 Principles for Making Marriage work because my patience is thin and hubby is about to get smothered in his sleep at this rate. The Bad- obviously, teething and vomit. We got denied Katie Beckett/TEFRA. I have some paperwork to take back to the pedi's on Monday regarding the denial. Still not ok with the pre-op paperwork staring at me from the coffee table. I also have to fill out her paperwork for the GI Dr on Tues this weekend (another appnmnt which will likely ruin my day). Could be worse. I dont want to know how, but Im sure it could be worse. Wish I could stay in bed. Guess I'll just try not to cry and wake the baby. She always looks at me funny when I cry, like "Ummm mom...? whats going on??" Which makes me feel even worse... not that I dont want her to see me cry, I just know she doesn't understand that sometimes mommy is emotional. And I can't explain to her that sometimes singing Christmas Carols makes me cry LOL. I can't help it, Ive never made it through all 4 verses of "Silent Night" since I was 12. LOL. Ah well. Buck up little camper as my friend Margaret says.

Wednesday, November 17, 2010

Stupid Mail

Llewellyn's pre-op paperwork came in today. It doesnt say anything we dont already know- like when to show up and a little bit about what will happen when we get there but I just held her and cried. My poor, beautiful, smart little baby girl has to have surgery. 2, in fact. I hope Im not this bad when it really is surgery day.

Tuesday, November 16, 2010


A bit worried about her appointments next week. I dont care about the pedi one, frankly, she's doing great as far as he's concerned. I wanted to cancel the GI appnmnt but she's been so weird with her eating lately I guess I wont. Her appetite has been up and down up and down. Today I keep focusing on her surgery. 2 months, 21 days to go.

Wednesday, November 10, 2010

Neuro Appnmnt

The neurologist was a lovely older lady. And thankfully Llewellyn was her usual ham-self. She smiled, cooed, sat up, enjoyed being on her tummy (first time for everything). The best news, however, is that the neurologist found absolutely no reason for concern. She said Ellie does tend to alternate sides when moving her mouth, but when she full on smiles or full on cries, the left side comes alive. The neurologist further said it should only improve over time, and we have no reason for alarm. Phew! My concern, however, is that the neurologist asked about distraction. At the present time the answer has been no, but now Im wondering if they're going to delay the surgery in Feb and do distraction instead. Time to ask some questions on the PRS network. (I also want to know if she's physically capable of blowing raspberries)

Tuesday, November 9, 2010

Rice Cereal and Hearing Test, Dr Stickler

The rice cereal experiment is going much better than I had previously anticipated. She wolfs down every bottle with rice in it, and only drinks moderately from bottles which are straight up formula. No bad constipation, no diarrhea, no excess vomiting. This is only day 2, however, and Ive heard day 3 is when things will go south if they will. *fingers crossed*

We went to the ENT and had an audiologist perform the exact same tests Llewellyn had in the hospital. The first confirmed fluid behind the ears, the second said she failed the hearing test. I was told that while they can't be 100% positive, it is likely that it is the fluid in her ears causing her to fail. It should not cause her any problems unless she goes deaf or gets an infection. In either case there is little they can do until her surgery for the tubes in February of 2011. Something like 2 months and 28 days left. Her hearing is considered muffled, like listening under water. After the tubes are put in and the fluid drains they will redo the test and only then if she fails will there be considered a problem.

Dr. Gunnar Stickler passed away today. Stickler's Syndrome was named after him. I never met him personally but another mom on the PRS network said she and her son had met him and he was a wonderful human being. Evidently he ate pizza poolside with her son in Denver, here is her post:

I had the pleasure of meeting him and spending time with him at several
Stickler conferences. He was such a wonderful intelligent man. My son
got to spend time with him in Denver when he was 12. They hung out one
evening at the pool and ordered pizza. We had many long visits about
PRS and the lack of research being done.

He will be greatly missed.


And here is his Obit:

ROCHESTER — Gunnar B. Stickler, M.D., 85, passed away at his home in Wayzata, Minn.

He is survived by his wife, Duci, of 54 years and his children, Kati Lovaas and George Stickler. A native of Southern Bavaria, Germany, he was a retired physician who practiced at Mayo Clinic for 32 years. Gunnar Stickler was chairman of Pediatrics at Mayo Clinic from 1969 to 1980. He was a member of the editorial board of Clinical Pediatrics for almost 25 years. Gunnar also served on the editorial boards of Pediatrics (6 years) and the European Journal of Pediatrics (8 years). Throughout his life he contributed over 200 articles to medical publications. His achievements include the discovery and description of hereditary progressive arthro-opthalmopathy, named "Stickler Syndrome."

The world lost an energetic, charismatic, talented, challenging, witty, and sophisticated man who cared deeply about his patients and who practiced the true art of medicine every day. In the words of his former resident, Douglas S. Moodie, M.D., "Gunnar created an excitement about clinical scholarship that was unmatched. He was a superb teacher. He challenged and compelled one to do clinical research and infected one with his enthusiasm for life and medicine and his quest for the truth."

Gunnar was an active sportsman who loved competitive sailing, skiing, cross-country skiing, tennis, and iceboating.

Gunnar is very much missed by his daughter, Kati Lovaas and son-in-law Mark Lovaas of Wayzata, and their children Kristina, Alexandra and Karl. Gunnar lived next door to the Lovaas family and found great joy in the daily involvement in his grandchildren's lives. Gunnar is missed by his son, George Stickler and daughter-in-law Diana and their children, Elsie and Kurt; along with his sister, Karin Ensmann of Truchtlaching, Germany.

In lieu of flowers, memorials may be directed to: Stickler Involved People (SIP), 15 Angelina, Augusta, KS 57010. Stickler Involved People is a 501(c)(3) organization whose mission is to educate and give support to the people affected by Stickler Syndrome.

A Bavarian "Leichenschmaus" memorial supper celebrating Gunnar's life will be held on Nov. 14, 2010, at 3 p.m. at the home of Mark and Kati Lovaas, 17840 Breezy Point Rd., Wayzata, MN 55391.

Monday, November 8, 2010

Hearing Test Pt II, Rice Cereal

So the feeding team, specifically the nutritionist at CHOA, has been on me to have Ellie gain weight. Like I'm withholding food or something. Anyway, she got with my pediatrician to refer us to a gastroenterologist. I call, they tell me the one closest to my house has no availability until Dec 6th. Helpful. The one in Atlanta has an opening November 23. Great. So we schedule for Nov 23 even tho she'll be seeing her pedi for her 4 month check up the day before. I feel this appointment is going to be a waste of time. Her surgery is only a few months away, and we can't see the GE for another few weeks. Plus we get to add rice cereal soon so I think that will help beef her up, in addition to helping fighting her reflux to help her eat more. I gave her a touch of rice cereal today, she wolfed down the entire bottle in no time.

We went to have a second hearing test b/c Ellie puts her ear to my mouth which I assumed meant she wants to hear better. They confirmed fluid in her ear and accordingly she failed the hearing test. They said nothing to be concerned about, just need to wait to get tubes in the ear to drain the fluid. If she fails a hearing test at that point, THEN we can have some concern and justified worry. So unless she goes deaf or gets an infection there's nothing to do but sit and wait for the surgery. So I guess its good news, there's no actual hearing loss, they're fairly certain its just the fluid but I still don't like that she hears muffled.

Thursday, October 28, 2010

Nerve damage & Neurology

The pediatrician agreed that her left side did appear to have some nerve damage to it and said we should see a neurologist. He said his assistant would coordinate the neurosurgeon and the ENT appointment, but she never did. She didn't call me that day, she was out the following day, and today is the pediatrician's day off each week. I scheduled the ENT appointment on my own for her hearing test (she puts her ear to my mouth to hear better and it causes me concern). I called the neurosurgeon's office and got an earful. Evidently not just anyone off the street can call up and schedule an appointment with the states ONLY pediatric neurosurgeon. Yep he's the only pediatric neurosurgeon in the entire state (which leads to a tangent for another day- as in, how on Earth is that safe or possible? If you want a recession-proof career, I got one for you). He's booked months in advance. In order to see him I first have to call my insurance company to ensure I have either out of network benefits or Gap insurance b/c he's not on anyone's health insurance. (My friend, a nurse, assures me this is so he can have complete control over who he sees) Then, if I have Gap insurance I have to get a reference number to give to the pediatrician. If my insurance company gives me a hard time I have to fight back and assure them he's not just any neurologist, he's a PEDIATRIC neurologist, and not just a pediatric neurologist but a pediatric neurosurgeon. In either case, my pediatrician has to call and convince him to look at Llewellyn. Then the neurologist will decide how important her case is and schedule her from there- either days, weeks or even months. Unfortunately, since she has nerve damage and there is very little that can be done for nerve damage I can only assume she'll be waiting a while. I probably need to gently remind the assistant to schedule it.


I am glad that there is an entire team of people that want whats best for Llewellyn. I'm glad there are specialists for her to see and have genuine concern for her well-being. That being said, they can also get on my nerves. Case in point- the feeding/nutrition team. Llewellyn is small as a result of her PRS and she will likely always be small (or "dainty" as other PRS moms call their daughters). The pediatrician is always proud of her growth, noting she stays on the same growth curve, as she should. He even mentioned that he brags about her to people because she's never needed oxygen or a feeding tube and she's always continued to grow, no matter how small. I emailed her nutritionist, who replied that 15 ozs a day for a 3 month old is not appropriate. The nutritionist went on to say that she was going to talk to the feeding therapist and the surgeon's assistant on Monday and get back to me. I'm not entirely sure why because at our last visit all the did was hand my polymer to add to her bottles and send me on my way. I really don't know what the point would be, since I've refused a feeding tube for her. I may tell them to stuff it if they tell me to come in.

Sunday, October 24, 2010

PRS picture, nerve damage

I dont know why this bothered me but while researching PRS I found a profile picture of a baby with PRS. It was an illustration, most likely for a medical powerpoint or textbook. I don't know why but it really made me angry. I know the information was in English but it kept referencing India, and the doctor made mention that you can tell a PRS baby because the speech is so nasal. I found that a little presumptive but for some reason less irritating than the picture. Its not that the picture wasn't accurate. It was entirely accurate. It wasn't a real life photograph of a baby. It wasn't even terribly detailed. But when I saw it, when I looked at it, it angered me. Maybe its projection of my anger about the situation since Im not really all that angry about Llewellyn having PRS. I wasn't even mad at the doctor who told me not to worry about her recessed jaw. So maybe its just seeing the problem in black and white without a face or child attached to it was easier for me to unleash my rage at my "less than perfect" angel. For the record, I do think she's perfect. Sometimes I don't think its fair that my gorgeous loving laughing little darling has to go thru something so painful, but then I remember that she's special for a reason, and I was chosen as her mother for a special reason. We both have much to teach and learn to and from each other.

Now, on to the nerve damage.

The geneticist said she thought there was nerve damage on the left side of Llewellyn's face. The pediatrician said not to worry about it unless we could see that her eyes were no longer symmetrical or the bridge under her nose flattened out. I still thought I noticed the nerve damage, even tho some times she would only use the left side of her face. Then I noticed her eyes were no longer symmetrical. I said nothing, hoping I was wrong or it would get better. I noticed in certain light it looked like her left eye was darker blue than her right. In other light they looked exactly the same. We took pictures of Llewellyn the other day and my husband was shocked and saddened that it was readily apparent that the left side of her face was not the same as the right side in every photograph. So now we need to make a visit to... someone. I emailed the geneticist and will call the pediatrician tomorrow to get his take on it. Ive done some online research which tells me there's not really a cure or even treatment for it. I haven't told my husband as that would likely make his stress about it worse.

Saturday, October 23, 2010

How God chooses mothers of special needs babies

Did you ever wonder how the mothers of premature and disabled babies are chosen? Somehow, I visualize God hovering over Earth, selecting his instruments for propagation with great care and deliberation. As he observes, he instructs his angels to take notes in a giant ledger. "Beth Armstrong, son. Patron Saint, Matthew. Marjorie Forrest, daughter. Patron Saint, Celia. Carrie Rutledge, twins. Patron Saint... give her Gerard. He's used to profanity." Finally, he passes a name to an angel and smiles. "Give her a special needs baby." The angel is curious. "Why this one, God? She's so happy." "Exactly," smiles God. "Could I give a special baby a mother who knows no laughter? That would be cruel." "But does she have the patience?" asks the angel. "I don't want her to have too much patience, or she'll drown in a sea of self-pity and despair. Once the shock and resentment wear off, she'll handle it. I watched her today. She has that sense of self and independence so rare and so necessary in a mother. You see, the child I'm going to give her has a world of its own. She has to make it live in her world, and that's not going to be easy." "But Lord, I don't think she even believes in you." God smiles. "No matter, I can fix that. This one is perfect. She has just the right amount of selfishness." The angel gasps, "Selfishness?! Is that a virtue?" God nods. "If she can't separate herself from the child occasionally, she will never survive. Yes, here is a woman whom I will bless with a child less than perfect. She doesn't know it yet, but she is to be envied. She will never take for granted a spoken word. She will never consider a step ordinary. When her child says 'mama' for the first time, she will be witness to a miracle and know it. I will permit her to see clearly the things I see – ignorance, cruelty, prejudice – and allow her to rise above them. She will never be alone. I will be at her side every minute of every day of her life because she is doing my work as surely as she is here by my side." "And what about her Patron Saint?" asks the angel, his pen poised in the air. God smiles. "A mirror will suffice." 

(from Erma Bombeck)

Thursday, October 21, 2010


For those new to PRS, here are some vocab turns you're probably going to become acutely familiar with:

Lip-Tongue Adhesion- surgery to open the airway by sewing the tongue to the bottom lip.

Jaw Disjunction - By making a small cut in a child's jaw and creating a space between the two ends, bone grows in between. By continuing to expand the space each day and allow bone to grow, a longer jaw is created. The jaw can be lengthened exactly the right distance for each child's need.

A series of pins is inserted into the jaw to control the segments. Expansion can continue until the necessary size is reached, usually in 2-3 weeks. The expansion is then stopped and the bone becomes solid in 4-6 weeks. The distraction process is far less painful than it might look and all measures are taken to make the child as comfortable as possible. Children recover from the initial placement quickly and return to most normal childhood activities. In addition, the children are able to eat softer foods normally while the pins are in place. Most do not require additional airway or nutritional support. In 4-6 weeks, the bone becomes solid, the pins are removed and the jaw lengthening is complete. Scarring is minimal - far less noticeable than that of a trach - and fades over time. In our experience, this is the only procedure needed to correct the jaw and airway. Other operations may be needed to correct problems associated with the initial syndrome, such as cleft palate.

Tracheostomy- an opening surgically cut into the windpipe. A tracheostomy tube is then inserted in the opening.

Gastrostomy feeding tube- After the endoscopy tube is inserted, the skin over the left side of belly (abdomen) area is cleaned and numbed. The doctor makes a small surgical cut in this area and inserts a small, flexible, hollow tube with a balloon or special tip into the stomach. The doctor uses stitches to close the stomach around the tube.

decannulation- Planned or accidental removal of a tracheostomy tube.

Stickler's Syndrome- a group of genetic disorders affecting connective tissue, specifically collagen. It was first studied and characterized by Gunnar B. Stickler in 1965. Stickler syndrome is characterized by distinctive facial abnormalities, eye problems, hearing loss, and joint problems

Cranial osteopathy - a set of theory and techniques that have been developed from the observations of Dr William Sutherland that the plates of the cranium permit microscopic movement or force dissipation and that there is a 'force' or rhythm that is operating in moving the plates of the skull. Cranial osteopathy is said to be based on a primary respiratory mechanism, a rhythm that can be felt with a very finely developed sense of touch. Some osteopaths believe that improving dysfunctional cranial rhythmic impulses enhances cerebral spinal fluid flow to peripheral nerves, thereby enhancing metabolic outflow and nutrition inflow. It has gained particular popularity in the treatment of babies and children.

The primary respiratory mechanism is not acknowledged as existing in standard medical texts, and at least one study has failed to show inter-rater reliability between craniosacral therapists attempting to detect this rhythm. While other studies have reported evidence of the existence of such a rhythm, the link between any such mechanism and states of health or disease has also been contested. One meta-analysis from the British Columbia Office of Health Technology Assessment (BCOHTA) concluded that "there is evidence for a craniosacral rhythm, impulse or 'primary respiration' independent of other measurable body rhythms", however it was noted that "these and other studies do not provide any valid evidence that such a craniosacral 'rhythm' or 'pulse' can be reliably perceived by an examiner" and that "The influence of this craniosacral rhythm on health or disease states is completely unknown."

Craniosacral therapy is based on the same principles as cranial osteopathy, but the practitioners are not qualified osteopaths. The theory and techniques of cranial osteopathy have also had a major influence in alternative medicine in general.

Frequency Specific Microcurrent - treats nerve and muscle pain and many other conditions using specific frequencies and micro amperage current.

Tuesday, October 19, 2010

Clinic Appointment

When we went for our clinic appointment it went a little something like this...

Clinic occurs at our local childrens hospital (CHoa) at 7 am on Fridays. We saw a social worker, the surgeon (and his assistant and an intern), the feeding and nutrition team, she had her picture taken and received a free bear from the surgeon's office, the geneticist, and we got referred to an ENT and ophthalmologist. It took about 3 hours, which was actually less time than we were originally expecting to spend there. We also were sent to the lab for blood work for her genetic tests. Basically everyone gave her a once over and said they'd be in touch. The lowlights of the event was that she peed on the table during the geneticist's exam and we had to be there by 7 a.m. When you're running low on sleep, you don't want to be told you have to be somewhere early in the morning.

So to all PRS baby mama's, the clinic appointment isnt that bad.

Monday, October 18, 2010

New countdown

The surgery was bumped up by 24 hours...

surgery, things for which to be grateful

The surgeon's assistant called Friday to tell me February was just around the corner (My birthday is Feb 3rd so I know this isn't true)and it was time to schedule Llewellyn's cleft surgery. It's scheduled for February 9th with pre-op on my birthday. Probably not the worst birthday I'll ever have but likely a far cry from the best. Thanks to the PRS network on yahoo (http://health.groups.yahoo.com/group/pierrerobin) Ive learned that essentially, the surgery is going to suck. She will be in immense pain for a while (at least a full day potentially several). Pain will be controlled with morphine and tylenol. We need to be aware she may have night terrors as a side effect of the anesthesia. We need to smell as much like us as possible and bring clothes that dont go over the head. The "no-no's." *sigh* The no-no's are the devices into which you strap the baby's arms so s/he can't stick their hands and fingers (and anything else) into their newly repaired mouth. Some doctors don't believe in using them because it requires a ton of strength to undo surgery. Some doctors say after the initial 48 hours the baby should be ok enough or back to normal and wont need them. Other doctors say 4 weeks. FOUR WEEKS. As in a month! I can't imagine. We may do what we did with the apnea monitor and perhaps remove them as she proves herself to not need them. In any event, I am worried and there is nothing anyone can do about it. And it turns out the surgeon's assistant was right, according to my countdown February really is right around the corner.

Ah yes, the apnea monitor. How I LOATHED the apnea monitor. My husband ADORED it. He felt it gave him peace of mind that nothing was wrong with the baby. We were always assured she was breathing. Meanwhile, as a stay at home mom I had to put up with turning it on and off and resetting it and hauling butt down the hall for a false alarm or leaping out of bed in the pre-dawn for a false alarm...and call it mother's intuition if you'd like but I knew there was nothing wrong with the baby or her breathing. Llewellyn was on it for 8 long and grueling weeks. This leads into things Im grateful for...

She never had a single episode of apnea. We were told she was the first PRS baby in the history of the hospital to NOT require oxygen at birth. Her heart and brain scans came out normal. Her chromosomal tests came back showing no abnormalities. Her amniotic band did not interfere with the growth of her hand or arm. She has not needed a tube for feeding or breathing. She has not yet needed the jaw distraction surgery (and Im hoping she never will). She continues to gain weight, albeit slowly. She has met and exceeded several milestones. She did not have colic! She can stick her tongue out ever so slightly. We didn't need the dreaded trach that so many PRS babies do.

She appears to be a happy baby. She laughs and smiles alot. Her reflux is under control with the help of prevacid (altho it stains her clothes!). She coos frequently. She loves her mommy and daddy. And we love her.

Random thoughts

The surgeon and pediatrician said that the PRS was likely the result of her
position in my uterus during the formation of mouth/face- by day 55 of
pregnancy. The geneticist, however, said I probably didn't have enough folic
acid and it could have also been caused by my gestational diabetes. So I guess
Ill never know for sure but could this be my fault? The resulting answers seemed to be a resounding NO. But as a mom, you can't help but feel responsible and of course, guilty. No one can control how the uterus is, or how the baby chooses to lie in it, especially when it happens so early in the pregnancy- often before a woman knows she's pregnant. However, I have an extra scenario which adds to my guilt. At the first hospital they tried to tell me something was wrong and I wouldnt listen. At the second doctors they said nothing was wrong and wouldnt listen when I said something was. Should I have stayed at the first place? Should I have pushed harder with the second? I guess in the end it wouldnt have mattered because theres nothing they can do in utero anyway, and we still would have had the same scenario at birth (off to the ICU and tons of testing).

Meanwhile Im still pissed at the geneticist for bringing up nerve damage. Sometimes I think I see it and sometimes I dont. The pediatrician says its not there. Sometimes I wonder if I'm just hallucinating. Especially with her jaw. I keep thinking its growing out, and then sometimes Ill take a picture and look at it and think, no it hasn't. Am I kidding myself? Do I just desperately WANT her jaw to grow out so soon? She's barely 3 months old!

I have a countdown for her surgery. Lets see if this works

Thursday, October 14, 2010


There is much to tell, so this post could turn out to be very, very long.

Llewellyn Rose is a miracle baby. I was told I wouldn't be able to conceive due to my PCOS. Yet here she is. She has a bunch of "problems"- Pierre Robin Sequence, Stickler's Syndrome, Amniotic Band Syndrome, recessed jaw, cleft palate affecting both hard and soft palate and all these things have a ripple effect on her- she's incredibly small, with her head shaped funny and requires a special nipple (Haberman) to eat. Eating must be done every 3 hours and must be under 30 minutes or she starts burning more calories than she takes in from trying to eat.

My pregnancy was difficult. My morning sickness had me hospitalized twice. I had gestational diabetes from my first appointment to confirm the pregnancy, so I had to stay on my Metformin and prick my fingers 4 times a day. I was hospitalized twice for low fluid (at one point I had NO fluid), once during my baby shower. The fluid came back on its own. No one knows how it went away or how it came back, let alone twice. All of these things combined caused me to have 2-3 doctors appointments a week the entire last trimester. She was breech the entire pregnancy, and her head created a permanent bruise in my side. This also caused her to not be properly seen during expensive 3D ultrasounds and during routine ultrasounds. At one point I was at one hospital and the ultrasound doctor mentioned they couldnt get a good look at her face and told me to come back. I went back a week later and he began to spout off about trisomy and downs and other problems she could have. He sternly suggested an amnio. I refused because there were no other problems with her- her heart, lungs, kidneys, etc were all developing fine. The doctor eventually stopped returning my calls so I switched to a better practice. Unfortunately, they sent me to another place for my ultrasounds and that doctor was convinced nothing was wrong, and conceded that even if there was, it was slight. HA.

After she was born she was in the NICU and then moved to the Special Care nursery. We had a fight with one of the special care nursery nurses who kept insisting there was no way she was coming home with us because she wasn't eating properly (to be fair, no one showed us how to feed her with the special nipple). The nurse was also ignorant to facts about breastmilk and colostrum. Luckily another nurse was there the next day who was a heaven-sent angel who helped us with everything and we were able to bring Llewellyn home that afternoon. She was hooked up to an apnea monitor for 8 weeks.

She has a team of specialists at our local Childrens Healthcare Hospital (CHoA). She has seen the feeding team 3 or 4 times already. Her eating is spot-on, thankfully. She's also seen the craniofacial surgeon, and her surgery to close the palate may come in January or February. She saw an ophthalmologist who told us about Stickler's due to her near-sightedness. She saw an ENT who said she has fluid behind her ears and during her palate surgery she will need tubes put in to drain the fluid and help with hearing. She saw a geneticist who thinks there may be nerve damage to the left side of her body (where her amniotic band mark is) but the genetic tests came back clean (no abnormalities or deformities in her chromosomes).

We've also seen evaluators from Children First and Babies Can't Wait (formerly Easter Seals). These are free programs(or sliding scale depending on the program) to members of the county to help with the baby if she falls behind her milestones. So far she is ahead in her motor skills, social skills, and verbal development so they haven't had a need to help us. Yet. We have met with a speech therapist that we will more than likely need in the future. They will check in every 3 months or so.

Currently we're fighting the government about getting her covered under different plans and policies. Social Security sent us a letter denying us benefits under her disabilities, but when I filed an appeal they sent it back saying it was premature because they hadn't denied us. *shrugs* We're still filling out our Katie Beckett/Deeming Waiver for Medicaid. I called our case manager but he has yet to call me back.

This is our story as it unwinds.