Whether you turn to the right or to the left, your ears will hear a voice behind you, saying,“This is the way; walk in it.” Isaiah 30:21
Showing posts with label Goldenhar Syndrome. Show all posts
Showing posts with label Goldenhar Syndrome. Show all posts

Monday, May 11, 2015

The Fog is Clearing

I have 4 kids now. 

Some days I can't even wrap my brain around that. FOUR. We've been a family of six for almost 6 months now (how are we already halfway through Clara's first year?!), and the fog is finally clearing. We are in our groove, our new normal. I'm feeling more and more like myself. 

I hate that I haven't kept up with our little family journal so I'm going to post a bunch of pictures with random captions to catch up on whats been going on over the last several months!

Here goes:

I took this of the kiddos back in March. I wanted a picture of them all together. Holy Cow. I felt like I had wrestled a bear trying to get a picture of all them looking at me, but I managed to snag one. (secret: Carson's eyes were actually closed in this one, so I had to photoshop his eyes.) 


Heres another group pic: I think this was before my mom's birthday dinner at the end of March!


A few pictures from Easter Weekend!





A flood of Clara pictures: aka guilt because I haven't blogged her little life like I did with the boys! ;)






Sweet girl at 5 months!



Dimples









Harp showing off his artwork that was on display at our local Spring Festival! He was super proud (and we were, too!) 


So...I just realized I submitted this post before finishing this post sometime last week...maybe the fog hasn't cleared as much as I had thought, ha!

Continuing...

I can't forget to mention how much progress Grant has made! I decided to get him evaluated for Occupation Therapy right after his 3rd birthday. He definitely qualified for services, so he goes for 1 hour every week. I really think it has been wonderful for him! Apart of OT is feeding therapy and ever since he started, he has been eating SOO much better. I also requested around his 3rd birthday for an extra speech therapy session which was obviously approved. So he goes to speech 2x a week now (once at the office and once at home). After the summer I am going to push for both sessions being at the office...I really think it benefits him SO much more than the sessions at home. Anyways, enough rambling with that!

 Grant always uses 2-4 word phrases now...that doesn't seem like a big deal, but it is HUGE for him. He was evaluated for speech during our annual craniofacial appointment back in March, and the speech pathologist there thinks he has a touch of Apraxia of Speech (which, thanks to my "Medical License" in google, I had already gathered he had, ha!). Anyways, for Grant that means his brain is not being able to put a sentence together, despite being able to say each individual word correctly. For example, if you ask him to say "I love going outside!" he can say each of those words individually "i" "love" "going" "outside" however, when you tell him to say it as a sentence, "I love going" ends up becoming jumbled gibberish and he'll end with "outside". Its confusing and complicated,  but it suits Grant because NOTHING with him is ever easy! :)

Potty training....is not going. We're on a break until schools out for the boys. He understands the concept, he knows what he is suppose to do, he can say the words, recognize when he urinates, stay dry for long periods of time. It is not a battle of the wills, it is 100 percent a sensory issue. I have a game plan in place but honestly its more of a Clara issue at this point-I need her to be a little older so I can devote the time and effort to potty train Grant.

Last but not least...we went back for a repeat hearing test on Friday...they weren't able to get the results (which is very frustrating because I told them on the phone they wouldn't be able to...not getting into that right now, though...), so we are going back for a sedated hearing test next. We will know definitely if there is or is not hearing loss.

 

Carson and Harper are doing so good, as always :) Excelling in school, enjoying their childhood to the fullest extent. Carson is playing tackle football this fall which I'm nervous about, and Harp decided not to and wants to take hip hop dance classes...we are signing him up for summer classes which will be so much fun to watch! :)

They sat on our front steps and waited all week for the ice cream truck to come by...he finally came by while they were outside and were just SO excited!



Well that is definitely all for now...longest post for me in a while and it only took a week to type up, ha! 

Monday, September 30, 2013

Annual Craniofacial Appointment

This has been a hard post to put together. I have always been very transparent about Grant's condition, but I'm always hesitant to put it all out here on the internet. But then I receive an email-usually once a week, from someone who is going through something similar with their own child, and I decide to go ahead and hit the publish button. 

For whatever reason, God always chooses to gently (and other times, not so gently) break us up and shake us up from the comforts of our little world during this time of year...usually between the months of August-November. Three of Harp's four surgeries have been during these months. The life-changing opinion that he had cancer was during these months. And during these months is when Grant is due for his annual craniofacial work-up in Chapel Hill, among several other tests in the next few weeks.

Last week, Grant had his check-up with a team of doctors at the Craniofacial center at UNC-Chapel Hill. 
You make your rounds and see specialties which include: Speech Pathology, Oral Surgery, Plastic Surgery, Pediatrics (nurse), Ear-Nose-Throat, Child Psychology, as well as a separate team of doctors for dentistry.

To be completely honest, I wasn't fully prepared for this appointment. You see, we have spent months not really thinking about his syndrome. It hasn't been on the forefront of our minds; it hasn't really been an issue. The only doctor we see regularly (every 3 months) is his ophthalmologist. And even though its not common to see toddlers who wear glasses, it isn't uncommon to see children wear glasses...so I never really feel like he is all that "different" from other children. 

Before I go on, I just want to put this out there. It is very, very hard to sit in front of multiple doctors in one day, and listen to them point out every single thing that is wrong with your child. It is hard. 

The doctors are kind, but they also do not sugar-coat things for you. You have to hear several times that the  beautiful, flawless face that you cannot possibly imagine loving more then you already do, is anatomically wrong. If you have any doubts or denial issues going in, you certainly do not, leaving. 

So...just a quick, bland update from some of the specialties: 

Speech: the hardest appointment of the day. At Grant's 18m check-up last month, I told his ped that I thought he needed speech therapy, sooner rather then later. I was at peace with this decision, and overall, wasn't too concerned about him catching up. At the Craniofacial appointment, the pathologist made it very clear to me that he had a "severe" delay and needed intervention immediately. Lump in throat. After a hundred or so questions, she also introduced an idea to me that literally made me sick to my stomach. She thinks (this is NOT an official diagnosis) that he has a Sensory Processing Disorder. I'm not a doctor, but I AM his mom who is trying to look at this realistically...I'm not entirely convinced he has SPD. We have a full speech/development evaluation tomorrow, so we'll know more then. But if anyone is out there reading this, I ask-beg-that you pray that the SPD diagnosis would be made abundantly clear. I do see some symptoms, but not many, and I do not wish for a label to be attached to him that simply isn't true...And I also want to be able to accept and embrace a diagnosis without any doubt. 

Plastics/Oral: This is a wait-and-see game with these two specialties. Will he need surgery? Probably. But we have to wait and see how his face develops, specifically his jaw. This next year will be very important to what treatment may be needed for his first round of surgeries. He also has a sub-mucous cleft palate, but it is not severe. And once he starts to lose his baby fat, they can do fat-injections to make his face more symmetrical. 

ENT: Not sure if I've ever expressed my concerns on here about this before, but here goes: I have thought for some time now that he may have hearing loss in one of his ears, specifically his left ear. I'm not going to go into why I think this (I could write a book), but it is something I have been concerned about. His ENT at UNC wants us to come back in Feb (when he turns 2, and it is more accurate) for a full comprehensive test to determine what he hears. I think the specialist we are seeing tomorrow might do a hearing test too, but I'm not entirely sure. The ENT at UNC is by far my favorite doctor. She is so enthusiastic and passionate about what she does. The only thing she noted (which we knew) was that his left ear canal is very small. I also should note that after a quick test (can't remember the name), the ear drum in that ear does not move as it should. 

***
After the first visit that morning with the speech pathologist at UNC, Kane and I sat in the waiting room with other parents going through the same thing. I didn't make eye contact with anyone because I knew that one reassuring smile from another mom would be my breaking point. The only thing I could think of to calm me down was that the littlest love of my life was fearfully and wonderfully made by the Creator of the universe. And that is the same truth that I tell myself today. 

Thursday, June 20, 2013

Toddler/Baby Glasses

Grant's glasses came in! 

The first time he let us (ha!) put them on, he kept looking around the office in awe..the ceiling, racks of glasses, people passing by...his eyes moved slowly from one object to another. 

"Watch him." the optometrist whispered. "He's seeing everything clearly for the first time. He can see now."


****
 Today is just Day 2 of wearing them, but he seems to LOVE them! I'm really kind of shocked..I thought he would be ripping them off and that I was going to have to break out major bribery tools to get him to keep them on...but he rarely messes with them. The only time I (consistently) see him touch them as though they bother him is during meals...I'm thinking that the new depth perception might bother him when he's reaching for food on his high chair tray.

Speaking of depth-perception, he is having a lot of balance issues standing and walking with his glasses on. He's very clumsy and has been tripping quite a bit, but once he figures it all out, he's going to be perfect.

******
Watching the evening news (which is the only show he'll watch other then Jeopardy :)


He might be unsteady on his feet, but he can still balance on his head! 



I know we are just a couple of days in, but I'm so excited for Grant to be able to see and explore the world in a new way! 

all for now! 

Sunday, June 2, 2013

glasses!

Grant had another appointment with his pediatric ophthalmologist last week (a routine check up which he has every 3-4 months). Everything is fine (other then the astigmatism, of course). After talking with the cornea specialist, our two eye doctors have decided that right now, the best route is for Grant to wear glasses to see if it helps correct the astigmatism (caused-of course-by the limbal dermoids on his eyes). Surgery to remove them is a tricky procedure, and really should only be done if all other avenues are exhausted. The Cornea Specialist told me that if the dermoids become something that Grant is self conscious about (say-in another 10 years), that large, thick contacts (that also cover the dermoids) are absolutely a possibility and a route we'll take then. I'm very happy and at peace with the outcome.

After we left the Dr.'s office, we headed downstairs to pick Grant out some glasses! We had exactly 4 choices: a blue rubber pair, a pink rubber pair, and two ugly metal ones. The lady helping me told me nobody has quite broke into the toddler-glasses fashion scene yet-haha! Having a 1 year old boy-the obvious choice was of course the blue rubber ones (they DID have black ones too, but they had to be special ordered which would take several more weeks, so I decided to just wait until next year :) 

These are just the display glasses of course (his will still take several more weeks to come in), but here they are! 


I have a feeling a lot of bribery and candy consumption will occur to keep these things on! haha!


We are counting down the last few days of school!!!

Thursday, April 11, 2013

one of those eye posts.

So last week Grant had an appointment with a Cornea Specialist to get an opinion on what the next step for Grant is. 

Very quick recap:

Grant has an astigmatism due to the limbal dermoids on both eyes.
Local Pediatric Ophthalmologist believes it is an irregular astigmatism.
Regular Astigmatism=glasses. Irregular Astigmatism=surgery.
Surgery will be very tricky because of the nature of the limbal dermoids.

******
So...the Cornea Specialist took a quick look at his eyes and thinks it just a regular astigmatism, and that we should just pop a pair of glasses on Grant and call it a day. Right now the two doctors are at odds. I'm inclined to agree with his regular Pediatric Ophthalmologist because he sees Grant every 3 months, and has done many THOROUGH exams, both with dilation and non-dilation, using many instruments and tools-not to mention his profession includes working with babies and non-cooperative toddlers. The Cornea Specialist did not use tools, there was no dilation, and frankly, he is use to working with adults who can follow simple directions like "look up." Even so, I think the Cornea Specialist is incredibly smart and wants to help Grant.  He also doesn't think "we" should kick our feet any longer because Grant is getting older and it is easier to treat them when they are younger. So the two doctors are comparing notes and opinions and we have follow-up appointments with both in the next month.

*****

I left the appointment VERY frustrated. 

I keep going back to the day he was born and peering into his eyes, wondering what in the world those "white spots" were. I kept telling myself they were probably just swollen tear ducts or something. I mentioned them casually to the RN-she smiled and said it was "eye gunk." I knew she was wrong.

I go back to the countless well-child appointments in his early infancy with his former doctor. How she couldn't tell me what they were, but because it wasn't an "emergency" she wouldn't put in a rush appointment to the only local pediatric ophthalmologist (who stays booked MONTHS in advance). 

I go back to the day he was 6 weeks old and I found the limbal lipoma in the corner of one of his eyes. I remember calling for another appointment with hot tears in my eyes. I remember angrily telling the office that I wanted to see a pediatric ophthalmologist in Chapel Hill immediately. 

I remember going in for a consultation with Plastics in Chapel Hill (for the skin tags on Grant's face) with a trusted Plastic Surgeon, and he, just like that, gave me the official name of those "spots" on his eyes (Epibulbar Dermoids-aka limbal dermoids), as well as the name of the condition Grant has: Goldenhar Syndrome. 

I remember frantically trying to remember all of the fancy names he used so I could go home and google everything about it under the sun. 

I remember going back to Chapel Hill just two days later to meet with a pediatric ophthalmologist who told me Grant's eyes were "perfect" and scared me into NEVER allowing ANYONE to perform surgery because they would ruin his eyes forever.


I remember pondering and praying about his radical diagnoses for a few months before deciding I would absolutely seek a second opinion-with our local ophthalmologist. We love him and have been seeing him ever since. However, we are at this point where something needs to be done, and we don't know what that something is.

************

This has been such a long, frustrating road. I just want Grant to be able to see, and to be able to see clearly. Right now, we are just praying and waiting for the "verdict" from his doctors.


Thursday, October 25, 2012

Ophthalmology Appointment: dermoids and astigmatism

Grant had an ophthalmology appointment yesterday to check the limbal dermoids, lipodermoid, and to follow up on his astigmatism.

So the dermoids and lipodermoid has stayed the same (which was expected), but his astigmatism went from being "slight" to "moderate." 

He will definitely have to wear glasses to correct it, which he will probably get around his first birthday.

I like to joke that I have my Google, M.D. license, but I'm still learning all of the medical jargon between Harp and Grant. So heres the deal: 

The limbal dermoids have caused Grant to have an astigmatism (I think at his last appointment the ophthalmologist said it was an irregular astigmatism, but I could be wrong). The astigmatism could and probably will only get worse. What to do? Well the ophthalmologist had mentioned shaving the dermoids down a while back, but now he suggesting that we see a cornea specialist to get his/her opinion on having the dermoids surgically removed. Its a super "dangerous" surgery-meaning it is really easy to damage the eye, but Grant's eye doctor thinks that having them removed will improve the astigmatism and prevent it from getting worse. And as I mentioned before, he will also have to wear glasses.

Right now we just wait. He has been seeing the ophthalmologist every 3 months, and has another appointment set up for the end of January when he will be 11 months old. 



**********
Grant also had an ultrasound of his kidneys 2 weeks ago. There is still stretching in his kidneys (hydronephrosis), but they have grown correctly and are the size they need to be. Praise God! We won't have to see the urologist again until next year!

Thursday, October 4, 2012

Skin tag removal on our baby

Several times a month, I receive emails from parents all over the world about Grant's skin tags. The internet can be such a great thing, as it as enabled me to connect with other parents who are experiencing the same thing we have with Grant. 

So Grant was born with 5 skin tags on his face and ears. His skin tags are due to him having Goldenhar Syndrome. Skin tags can be indicative of hearing loss/deafness and/or kidney problems. He is not deaf, but we do have to re-test for hearing loss. He had a VCUG at 3 months to determine if he has reflux when he urinates-he did not! We do have to redo the VCUG again next week. Pray for no reflux!

Two very loosely attached tags were on one ear, he had a very attached tag on his cheek and other ear, and a loosely attached tag on his other cheek.







At 2 days shy of 3 months old, a plastic surgeon at Children's Hospital removed all 5 skin tags from Grant's face. It was fairly noninvasive (the ear tag that was attached took a bit more time and effort, and the surgeon had to be more careful to remove the very attached tag on his cheek to avoid much scarring). 

The recovery was great and the stitches were out in about 2 weeks. Although he was still our same sweet baby, he looked much different to us 1 week post-op!



And now, here we are almost 5 months later, and our sweet boy's face is still healing. There is significant scar tissue on one of his ears, and we just started scar tissue massage this week (per our Craniofacial Ped's instructions).
I snapped these after lunch today and so you'll have to excuse the sweet potatoes that are ALL over his face! :)






If you found this post via google or google images, you can check out the rest of my skin tag posts by clicking here.

If you have any questions, you can email me at

mtrochelman@gmail.com

I promise I will get back to you as soon as possible!

Friday, September 28, 2012

Craniofacial Appointment

 This past Tuesday, we got up early and headed to Chapel Hill for Grant's first craniofacial appointment at the UNC School of Dentistry. His appointment was set for 8am and they got us in right away. At a craniofacial appointment, you see a team of doctors of different specialties in one day. Obviously, because all children and their specific craniofacial problems are different, which specialties you see varies. The first doctor we saw was a Craniofacial Pediatrician  He did an overview of Grant and addressed a few concerns of mine (constant swelling under his eye, a large vein in his nose that randomly shows, and scar tissue build-up from his skin-tag surgery). Next up we saw a nurse who did what nurses do-took all of his stats and created a journal of where he was at developmentally, how much he ate and of what, etc. (By the way-he weighed in at 20lbs, 4.5oz. at 7months, 2 days-definitely no feeding/weight gain problems like most Goldenhar babies have.) I really liked her-she was a patient there at the center her entire childhood (she was born with a cleft lip, among other things), so she really was able to connect well with us. We also saw a speech therapist, ENT (ear-nose-throat doctor), Child Psychologist, and a team of Dentists (we didn't have to see an Oral Surgeon this time, although we will in the future).-We see plastics, urology, and ophthalmology separately. The speech therapist said his speech is perfect developmentally. The major, common concern among all of the doctors we saw was that he will probably have a speech impediment due to him having a bifid uvula. Right now, he doesn't sound like he does, but we just have to wait and see. Deafness and/or hearing loss is very common in GS babies-Grant passed his newborn hearing screen, but they cannot rule out hearing loss. The speech pathologist checked his ears, but he had a nasty cold, so there was negative pressure. We'll have to see a local ENT to get them re-checked after he gets over his cold. The child psychologist said he was great developmentally. She will help him deal with all of the hard stuff when he gets older-why he was born with GS, looking different, and bullies. I refuse to even let my mind venture into all of that right now. We didn't accomplish much with the ENT because Grant was so tired and cried most of that appointment. Poor baby. The head ENT did ask me if they could contact me about possibly putting Grant in a Goldenhar Syndrome study that UNC was chosen for. It would be after his first birthday, so I told them it would definitely be something we were interested in. The team of Dentists (around 5, plus students) were my favorite-seriously the most upbeat, positive dentists I've ever met. When they saw he had two teeth during the examination- they cheered. They actually cheered and let loose a few "whoo-hoos!". Dentist humor? Don't know, but they said his anatomy was perfect right now.

After we were done, all of the doctors we saw will meet together and come up with a report for me and a game plan. We will see them once a year until adulthood. They will monitor his growth and determine treatment when issues arise. The basic gist of what all of the doctors told us is that this is a waiting game.  He may have to have another plastic surgery to his ear to correct the skin there and ensure it doesn't cover his ear canal. He may need ear tubes. He also may need corrective surgery to his bifid uvula.  We really don't know yet. But, we do know that in the large scheme of things, Grant's Goldenhar diagnoses is much more minor compared to what it could be. 

This little guy is such a blessing to us and brings us (and everyone who meets him) so much joy. 

Thursday, July 12, 2012

quick update + pictures

**Harp's eyes are fine. He has an MRI scheduled for the 27th to see if there are any AVMs located in his head. Grant's ophthalmology appt is next week (I'm taking him here locally-he has a LOT of puffy/swelling under his eye). Grant's craniofacial appt. is set for September & his genetics/metabolism appt is in November. Both of those are in Chapel Hill. Oh and I have yet to set up Harp's follow up for the AVM in his leg because I wanted to see the results of the local MRI first. And yes, if you are wondering, I have a big folder & calender that helps me keep up with all of these appointments!**

Just some grainy cell pictures from the past week!

carson & grant


the boys are currently obsessed with almond milk! 


Harp was just a little bored waiting for his eye appointment. At least he was quiet!


sweet baby.


he can roll from his front to his back!


and look who is sitting up (assisted)! 


my brood.


"Harpy" & his baby. Yes he calls him his baby.


big boy!


Monday, June 4, 2012

a second opinion-limbal dermoids

it might be simply because Grant is getting older, but the limbal dermoids are much more noticeable now. i'm hoping praying it is because he so alert and curious (looking around) that they are noticeable, not because they have grown. 



to be honest, i wasn't crazy about the ophthalmologist we saw in chapel hill (and i have NEVER said that about any other doctor in chapel hill), so i decided today that i'm going to get a second opinion.  and while i was riding that train, i broke down (literally, in tears, frustration, and anger) and "fired" the boys' pediatrician and found a new one. 



i took several pictures today and noticed underneath his left eye (right-if looking at him) is swollen, so i'm going to be battling my way through receptionists tomorrow morning trying to get him in to the doctor...locally. just my opinion, but the doctors (that we have encountered here in wilmington) are subpar. 

prayers. please.

Monday, May 21, 2012

grant's surgery and "new" look

sweet boy's surgery was today and it went great!

because of his age, they put him under general anesthesia (which includes a breathing tube). the anesthesiologist told me that because of Grant having Goldenhar, his throat is smaller then it is suppose to be and she may have trouble getting the tube in. it turns out she did in fact have to make several attempts before she was successful, but otherwise everything went great! 

he had all 5 removed...it is SO strange seeing him without the tags...

obviously there are several stitches, but here is what little man looks like now!



now that the tags are gone, you can see his dimple in his cheek-which, may i add, is melt-my-heart worthy. 

i JUST got done filling out his paperwork for the full evaluation from the craniofacial team, so we'll (hopefully) have an appointment soon!