Friday, October 3, 2008

Medical Update

I'm going to go through each specialist, one by one. ***I am not a doctor, nor do I claim to have all of this information completely correct. But I try to understand the best that I can and I hope I have it mostly right!***

Audiology: Emily passed her newborn hearing screening, but it seems that sometimes she does and sometimes she doesn't react/respond to noises/voices. It is hard for me to tell if she's really not hearing or just not reacting like a typical child would because her visual impairment keeps her from looking at objects or voices like you would when you hear a sound. Emily has been to audiology twice now. The first time we did not do a booth test which is the typical first test done. The child sits on your lap in a sound proof booth and the tester makes sounds go off in different places in the booth and watches through a window to see if the child looks in the direction of the sound. Emily's visual impairment and the fact that she can't sit up, makes this test pointless for her. So she had an OAE and a tympanogram done. I get them confused, but I think the tympanogram is the one that blows air in the ear to measure the movement of the ear drums. Neither of Emily's were moving very much at all. The OAE is an inner ear test which picks up the child's responses to sounds, and Emily failed in both ears. However, she had a cold and the audiologist wanted her to be checked by the ENT to see if there was wax or fluid keeping the ear drums from moving. So, those tests were basically inconclusive regarding her hearing. We did see the ENT and she was able to remove clean wax from her ears. We went back for the second visit to do an unsedated ABR. This test uses probes on the head to measure the brain's response to sound. Usually this test is done under sedation, but with Emily's history of sedation problems, that was not an option for us. We had to do an unsedated ABR, meaning she just had to sleep through it. Since she sleeps a lot and very soundly it was possible. She tolerated it for about 45 minutes before waking up. The ABR showed response to low and middle range sounds, but only at higher than normal volumes. The audiologist said this is considered mild hearing loss. BUT, she also did the tympanogram and the OAE again (because she had a cough!) and it showed that one ear drum was moving a little and the other was not. So, there is one more thing to try, an ABU. This is like the ABR except the probes will go behind her ears to bypass the ear drums and take them out of the equation. This is scheduled later but may be done when she is admitted to the hospital next week (more on that below). But it looks like she has mild hearing loss at the worst which is good.

Opthalmology: We saw the opthalmologist a few months ago and got the diagnosis of cortical visual impairment. Emily's eyes are actually functioning normally, but this type of impairment is neurological, meaning her eyes can see images, but her brain is not making sense of them. She she is considered legally blind, but she has low functional vision. She receives services from the NJ Commission for the Blind and Visually Impaired and has gotten a light box (think overhead projector - minus the projector part). The flat area lights up and can be faded. There are color overlays, shapes, faces, and beads. So far she responds best to the colors and seems to really like green. By responding I mean she is actually looking at the light box, following the colors as we move them and blinking (letting images in). She can not track/follow objects like toys, and rarely makes eye contact. But the light box is really great. And the important thing to note about CVI is that her vision can improve as her neurological state improves. Less seizures, better EEG, more vision!

Endocrinology: Emily was first followed by endo in February when she got steroid induced diabetes from being on ACTH (the first seizure medicine that was actually working!!) When she went off the ACTH, the diabetes resolved and she only had to be on insulin for about 2 weeks during the taper.

Then in March, when she stopped eating and I took her to the ER, they unexpectedly found her calcium levels were sky high. She was admitted to the PICU and we started seeing Dr.D. She was originally given a shot called calcitonin (never used before on a baby at CHOP!!!) and it lowered her level, but a little too much. So she was put on a low calcium no vitamin D formula and her calcium levels were checked very frequently in the beginning. She also has an extra 8 ounces of free water added to her daily formula intake to flush the calcium out. The high levels of calcium caused calcium deposits in her kidneys as well, but they are functioning very well and there is no plan at the moment to do anything for the calcium deposits specifically. Her calcium levels have been stable for a while now, so she only has to get blood tests when we see Dr. D now, which is a huge relief because she is probably one of the most difficult babies ever to draw blood from and I, of course, get to hold her through it all!

After her g tube surgery and during her subsequent week long stay for desatting/coding (see older posts for more details on that scary situation) from the pain medications, she had a few random low blood sugars. So after her follow up visit with Dr. D. I was to check her blood sugars once a day and call if they got below 70. A few weekends ago she started having low blood sugars again , low 60s and one 56 over 4 or 5 days. So the plan was to take her off of her feeding schedule which was four bolus feeds (one hour long feedings/about 5-6 ounces) with 2-3 hour breaks in between and one continuous over night feeding, and change her to 24 hour feedings. So now she is fed through her g tube 24 hours a day at a much lower rate and her blood sugars are maintaining at a normal level, between 80-100. But, since they are not sure why this is happening she has to have a test. They call it a 48 fasting hour test. Somehow this 48 hour test is actually going to last from Tuesday afternoon until Friday!!!! She will be admitted next Tuesday, October 7th and stay until Friday. I don't have a lot of details of the test but I know it involves a continuous feeding overnight and then frequent blood sugar checks at certain intervals throughout the stay.

Cardiology - Emily has been followed by cardio for an innocent murmur that actually comes and goes. No one has mentioned it for a while. And she was released by the cardiologist because she didn't see a need for any follow ups! Yay, a short one! :)

Gastroenterology - Emily has reflux and is treated with Zantac. She rarely spits up, it is mainly the silent kind, but seems to be well controlled with the meds. She tolerates her feedings well. She also has constipation issues and takes a med for that too.

Urology/nephrology - Emily has grade III kidney reflux, which means her urine backs up into her kidneys. It can cause frequent urinary tract infections (she has only had a borderline one once in December) and takes a low dose prophilactic antibiotic every night. Kidney reflux can get better as babies get older and can even resolve completely. She will be rechecked between 18-24 months old.

Feeding Team - This is the team including a physician, dietician, occupational therapist, and speech therapist who make a plan in hopes of getting Emily to eat by mouth again. They are extremely conservative and do not want her having anything at all by mouth still, 7 months after she stopped eating. Their reasoning is that she is too high risk for aspiration because of her airway issues (more about this below) and because she is sleepy most of the time, and the last two times we went she had a cold too. Basically they have given no suggestions for oral motor exercises other than what we already do with her OT and PT through Early Intervention. So I'm frustrated with them. They also did not schedule a follow up which is usually in 10-12 weeks because they want to leave it up to her therapists when they think she is ready, and also because we were changing her seizure meds and they want that to be worked out too. Just a heads up, we may ALWAYs be changing her seizure meds. Uggh. Enough of that.

Ear, Nose, and Throat: We first saw ENT when Emily was having labored breathing and making a lot of noise (stridor) back in the winter. After upping her Zantac dose it really subsided, and she breathes very quietly now. But she does have laryngomalacia which is a narrowing of her airway. It is not significant enought to warrant treatment. She also has extremely small ear canals, making it very hard to see her ear drums.

Genetics: Emily has an unbalanced translocation of chromosomes 7 and 9. ((Don't google it, you will find hardly anything!!!)) It basically means a piece of the tip of her 7 chr duplicated and attached to her 9 chr. And her 9 chr has a piece of the tip missing. So she has two chromosome disorders really, partial trisomy 7 and partial monosomy 9. We have not had any follow up appointments with genetics; in the receptionist's words, "Dr. Z has nothing else to tell you". Nice. This condition is so rare they have no data to give us a prognosis. They can only generalize. Children with any unbalanced translocation will most likely have some form of mental retardation (from mild to severe) and physical development delays (from mild to severe).

Neurology: I'm going to try to keep this as concise as I can. It is the most complicated area.
Emily has infantile spasms, a form of epilepsy. These seizures are very difficult to control, especially for children with chromosome disorders and children who display developmental delays prior to the onset of spasms. Emily fits both of those categories. We have tried the following treatments; B6, ACTH (a steroid injection) which had to be discontinued due to the onset of diabetes, Topamax, Keppra, Vigabatrin, and Zonegran. Her seizures decreased and eventually stopped on the ACTH, but came back after the round of treatment. It was while on the ACTH that she had her one and only normal EEG (the test that tracks brain waves). We tried a second round of ACTH, but had to stop. We started Topamax and her seizures varied and then we added Keppra which helped to keep them down to clusters once or twice a day. But with her EEGs still abnormal with lots of hypsarythmia, we tried Vigabatrin. It is not FDA approved, and we had to get it from Canada. It was therefore not covered by insurance and very expensive. After two days on a low dose, Emily went seizure free for 17 days! And then they came back, even after increasing to the maximum dose, and her EEG remains abnormal. So we are in the process of weaning the Vigabatrin and the Topamax (because it is very sedating), and adding Zonegran. She is staying on the Keppra. Her doctors also want her to start the ketogenic diet because it has a higher chance of working than the medications. You have to take an all day class to start, and it is only offered once a month. I haven't been able to get there yet. But I'm working on it.

As far as a prognosis goes, they can't say either. Although the attending neuro, Dr. B. said that unless we get her EEG normalized, she will NEVER progress further than where she is now. We're willing to do whatever they suggest and whatever it takes, but most likely she will have some form of seizures her whole life. And her neurological status will keep her from developing physically and mentally. I have noticed an improvement in her alertness already with the Zonegran though. She is awake more, smiling more, and making "talky" sounds more. She also has moments, especially at night, where she gets very "busy", kicking her legs and arms and making lots of noises, sometimes really loud noises! She is getting her fourth tooth (the top right front), and is doing well with her weekly OT/PT sessions.

That is all for now. If you made it through this whole thing, thank you!!!!!! :)


Tabatha said...

Wow...that is a mouthful or blogful. You are blessed with Emily and I know I don't have to tell you that. She is in my thoughts!

Hope said...

I wanted to thank you for taking the time to answer my email. Your children are beautful. You are blessed. I think Emily is an amazing little girl. Her strength (and yours) humbles me.


Anonymous said...

We love you Emily and you hold a special place in our hearts and prayers!!


MeMe and PePe

Shanna Grimes said...

She is beautiful and amazing. So glad to hear she is "talking" and smiling. I love those little baby noises. Praying that you will gain more control of the SZ when you begin the keto. We will be starting the keto with Kaylee soon. We will be making a different dinner for everyone ;) Javi (eldest) on the GFCF for autism, Kay on Keto, hubby and I on low fat and Ethan (middle son) can eat anything! Talk about Jack Sprat!!! hee hee

Take care and stay strong. You guys are so totally amazing!

Julia said...

wow! awesome of you to update like that!(even though I don't understand 1/2 of it!) Hopefully you continue to get answers and we will be praying that Emily continues to grow and develop!!!

love and hugs!

Meluch+3 said...

Every time I read your posts about Emily it is so obvious that she is loved and she is so blessed to have you as her mom.


KRISTA said...

Aimee-Very thorough update! Amazing! While you're not a doctor or a nurse, you are no doubt helping others out there who read about I like to think of you as an angel. You're a great mom, Aimee.

bri said...

I have a daughter with an unbalanced translocation as well (3p+, 18q-). I remember all those appointments all too well. I'm happy to say now at 3 yrs old we haven't been to the doctor- not even the pediatrician- in six months! Good luck! Oh- and are you a member of CDO? The email list has been helpful to me.

Kim said...

Wow - that is a lot of information. I have no idea how you keep it all straight! Thanks for sharing! As always, give a call if you need anything - we are only a few minutes from CHOP!