Hi Again-upsetting report

Over the weekend Ava had fun seeing lots of her family who had not met her yet. Honestly I was feeling a little awkward about bringing her because I didn't know if everyone knew what to expect when they saw her or if they would be caught off guard. I was more than a little comforted by everyone letting me know that they had been reading the blog to check up on our growing family! We went to Eddie's cousins graduation openhouse and to my cousin Jeremy's wedding. We took both Nicholas and Ava to the openhouse and just Ava to the wedding. Nicholas had fun going swimming in his Aunt Mary Joe's pool during the openhouse. We spent Father's Day with both sides of the family and had a relaxing day.

Ava has been doing well, she is starting to make cute little noises and coo, I am just waiting for her to smile at me on purpose. This is something I am just curious about since I am not sure if it will take her any longer than other children to do things like that. Nicholas is doing great with her. He gives her lots of hugs still throughout the week but is otherwise not super interested or jealous. Bedtime is when he wants my attention most and we seem to have that worked out. Yesterday while taking a walk with their Aunt Michelle I got a call from the genetics lab with results from her genetic testing (they are making sure if there are any underlying syndromes or abnormalities that may have contributed to the other things going on (hemangioma, cataract, vascular area in her brain, tortuous/long aorta) since they may not be related to the DWM diagnosis. She will be meeting with us soon to test our blood because she found a duplication on part of one X chromosome and wants to see if either of us has the same duplication. She says that this will not impact Ava in any way differently than what we already are expecting for her development and that she actually hopes one of us does have the same duplication becuase that makes it insignificant since we don't have any of the same health problems.




This week was not supposed to be a big week but it was. Any of you who saw her recently saw the "owwies" on her cheek and nose. I called the office about these and was told by a nurse that it didn't sound like a big deal and that I didn't need to come in and have them rechecked so while I was on campus I didn't stop in. Later I went to Ava's eye doctor, she was very concerned about how her face was looking compared to the last time we visited and asked if it was okay if she called that same clinic bacck and reiterated how badly it was looking so they would change their mind and see her. I did end up going in but our doctor was out so we saw another one in the office. He told me that it was not Necrotic(or dying) as the eye doctor had suspected and gave me advice to do nothing with these sores and to just let them heal on their own. I was slightly beside myself and asked if he thought the plastic surgeon could also take a look since he could use laser treatment if he thought it would help. I got in soon and this doctor also told me not to worry and gave me the same advice. Not to put anything on it, no pain meds, and just to wait it out.

I started to wonder about this advice because nothing was happeneig after 2 weeks or more to indicate that it was healing. I took matters into my own hands and tried to remember what dermatology had told me when she first got the sore on her ear-before it ulcerated. So I put some vaseline on her face and to my horror, the scab started coming off to leave an open wound underneath. I called dermatology right away and asked if I could email some pictures and get some advice. They were great and one resident even helped me out over the phone all weekend and made sure to get Ava right in on Monday. I met with a different laser surgeon, not our plastic surgion, who told me it was good to have the scab come off and to continue to get it as greasy with vaseline as possible over the next few days since the laser could not penetrate through scabs and then she could have surgery. He also said there would be a much higher chance of scarring since it took so long for me to get to him.

This news was really upsetting because I am not a doctor and instead of finally figuring this out on our own, we should have already been referred to him by our other 2 specialists that work on her face and weren't. We are lucky that we by chance ended up calling. Since then I saw one of those doctors and did express some concerns about this situation. She had her laser treatment yesterday and it was not as bad as I thought it would be and she is doing fine. Doctor said to keep her really greasy with vaseline until we see him again next month. So when you see her expect her to be shiny:) Laser Surgery can take up to 3 or even more treatments to heal these ulcerations so we have to be patient. I can't wait for her night time and morning routine to not include a horribly painful cleaning of open wounds. She screams her little head off and that is really hard to take every day. Even though babies are extremely resilient and don't have a very long memory, I'm still looking forward to having a pain free little girl and now I feel like there is light at the end of that tunnel. This afternoon Early On will be coming over to check her out-they send therapists over and it's free of charge to help with her development and help us learn as we go when dealing with any developmental differences she may have from other children. They will be checking to see if she is meeting the current developmental milestones for a 1-2 month old baby and giving advice on how to help things along and what to be expecting soon. I think they will have an evaluator and a physical therapist coming today.

Since June 4th...

Okay, so we have had a few appointments since the 4th. Lets see, we met with the doctor about her hemangioma and he assured me that even though we thought things were looking worse, medically it was doing better. I thought when it was bright pink/red it looked healthier than now, at a grayish purpley blue shade. Also there are areas that seem to be breaking down and we are scared that they will open up and aren't sure what to expect if that happens. We are really happy to report that he thinks it looks like she is responding really well to the steroids.

We met with a plastic surgeon on the 5th about possible laser surgery on her ear and future reconstructive surgery (after the ulceration heals). He told us that laser treatment is not a good option for her right now because it can cause swelling and further irritate the wound. Also we asked what his thoughts are about the little sore spots on her face that seem to be scabbing and he told us not to worry about that, that it would heal on it's own better than it would if we treated it with laser. Just to let it heal. Now we are in the same situation...just waiting for our poor girl's ear to heal. We were told to meet again in a week because he wants to keep close tabs on it to ensure no infection begins.

On the 9th we took Ava in to her pediatrician because she was sick and found out she had a cold.

The 11th was the re-check by the plastic surgeon and he thinks she is healing okay and we should stay the course. He also informed us of how great it is that we got her in to the dermatologist, the blood (Hematology/Coagulation Disorders) specialist and himself so early. He said he could tell it would have grown rapidly without the steroids. I guess her nose most likely would have swelled beyond what plastic surgery could help and on the spots where the hemangioma is up in her hair and on the side and back of her head the hair could have fallen out or thinned significantly, and changed to a different lighter color. These are just two of the many things that her case would have been like if we had not started her steroids at less than 3 weeks old. Most patients don't get in to see these specialists until 3 months or older.

On the same day I went to have her hearing tested and her brainwaves showed a response in both ears... Now we know she can hear and see just fine.

Today, the 12th, I went in with her for a cranial ultrasound and a re-check by the neurosurgeon. This was my favorite appointment. The ultrasound technician was so great and she was so positive and friendly that she made my day better and then when we met with the neurosurgeon we also had good news. He said that her head's growth was more on target now than he thought from the last measurment and that the fluid in her brain does not look like it will reach true hydrocephalus. There is fluid in the ventricle in the back which will need a shunt at some point to help her developmentally, but he has been checking the other ventricles for fluid growth which would indicate imminent hydrocephalus and they are still not measuring in a way that concerns him. He also said that usually if it's going to happen it happens by now, but not to completely rule it out (He always makes sure not to misguide us as far as ruling things out). He said he was very encouraged and pleased with the results from today and was all smiles. Of course I was too!! I'm really happy with this weeks appointments but wish I didn't have so many. By the way, Nicholas is doing really well and has recovered from the Walking Pneumonia that he had and Ava's cold is finally slowing down:) As of now, we only have one appointment next week aside from the home visit by Early On's Physical Therapist and Consultant!!! YIPPIE!

We still have to get a good one of all 4 of us:)
Daddy got a good shot of us...usually it's me behind the camera
~Let the Sun shine in~
An updated close up of the hemangioma changes, these are the sores I was asking the plastic surgeon about, but I will ask at Hematology too(they are the ones that specialize in working with Hemangiomas.)

Pictures, pictures, pictures...

I thought it was cute that little Ava looked like she was praying:)
Didn't take long for him to get bored of that...

This girl looks just like Nicholas did at this age!!
Here is Grandma Secor with Ava at almost 1 month old.

Update-May 26th

Hi everyone. Last week we met with Genetics and Neurosurgery. They drew blood and took her vitals and they will contact us in person if they discover an underlying syndrome or disorder that can explain her situation as far as things she has going on other than the Dandy-Walker malformation. If they don't find anything they will set up a follow up when she is 6 months old. The 2 main things they normally would think of for her case are Sturge-Webber and PHACE(S), as Eddie mentioned last time. The latter has already been ruled out and PHACE(S) can't be tested for genetically. Officially they don't want to say she has this until they rule out all other possibilities by way of the blood draw...looking at her chromosomes, her DNA... It sounded like in the end if they can't find anything, they will go ahead with a PHACE(S) diagnosis and to us it sounds like the pieces fit for this diagnosis.

The Neurosurgeon didn't really tell us anything new. We still aspire to wait as long as possible before doing the conventional angiogram and/or the shunt surgery. He did explain that the risks aren't as high as we thought they were for either procedure. The doctor did say her head circumference was growing fast enough to give him pause and would like to meet with us again in a couple weeks to see what changes occur.

We started her on steroids to slow the growth of the hemangioma on her face. She will be on these for 3 months and then slowly wean off. Hemangiomas grow rapidly the first year and then slowly decrease in size and color until they are gone (usually by the time the children start school-if its a little later, laser therapy is recommended). The steroids are being given because of the location of the birthmark-it covers one eye and her nose which could cause problems with her vision and breathing. If they do not work well for her or if a need arises for it the doctor will consider laser treatment for these areas as well as her ear.

On a good note-Ava is doing great at home. She has been doing well with the new meds and has not reacted negatively. Nicholas loves on her and wants to give her hugs and kisses or just touch her...no real holding yet:) She snuggles with her Daddy and cuddles with mama too. She is nursing and gaining weight well and seems all around healthy like any other baby. She does know how to get what she needs though and makes herself heard. We just love every minute with her and it's cool to see our family come together every night as we juggle 2 children now.

PHACE Syndrome.....

Here are some pictures of the family......

Nicholas all ready to go to Grandma and Grandpa's house Ava and I at the eye doctors yesterday
Getting ready for bedtime


Today Ava had her appointment with the Dermatologist. We have found out that Ava has what is called PHACE Syndrome. The link for this specific syndrome doesn't tell us anything that we did not already know. However, it does tell us that there are other children with exactly the same malformations living in the world. This is really encouraging to me because when things are identified, they can be treated more efficiently.


Two days ago, Ava had an appointment with the eye doctor and everything about her eye is perfectly normal except for the facial hemangioma (birth mark on her face). Due to the amount of swelling under her eye, it is harder for her to open the right eye. If she doesn't open it the same amount as her other eye, it can cause development problems in the future. Today at 1:30 Ava will be meeting with a specialist who deals only with facial hemangiomas. We will know much more after that appointment....


Her appointment for tomorrow is with the Neonatologist to inform us of what the plan for her is...we are both pretty nervous. Than we go to see a genetics counselor to hear whether or not we had anything to do with passing Ava any of these concerns....

5-18-08

Today was an awsome day. We finally got a chance to thank everyone at our church for all they have done, especially for their prayers. Ava has four appointments this week in Ann Arbor and Brighton. She is back to her birth weight and continues to do well with eating.

While I share mostly good news on blogs and with people in person, there are still quite a few things we need prayer for. Ava may need a rather risky procedure done after she turns 6 months old to see what is going on with her blood vessels in the front of her brain. Nicole and I know that if its in Gods will to fix those blood vessels, that he can do it without surgery. We are praying that is the case. Tomorrow we are going to an eye specialist to see whether or not her right eye cataract will need surgery or not. Some of the doctors say that she will and some say she wont... we will know tomorrow.

Tomorrow we also find out whether or not more fluid is around the brain and if there is, what we need to do. I don't think there is, but we will know for sure tomorrow.

Please keep Ava in your prayers,

-Eddie

5-15-08

Here is a picture of our little miracle. She is a cuddler, that is for sure;) I plan on adding a lot more pictures now that I have this figured out. Here are a couple of pictures of Ava's bedroom...for now she is sleeping right next to our bed.

We just got back from our trip to U of M. Ava had an ultra sound done to see how much fluid is around the brain. We will not know if there is an issue or not until Monday the 19th when we go to our next appointment in Brighton. She seems to be doing well!