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.