Friday, July 29, 2011

New Day, new doctor

Yesterday, we headed back up to UNC to meet with our newest addition to JoJo's care team, Dr. Amelia Drake. With each new doctor we add to the team, we have to go through the whole "get to know you" period. I did a lot of research about Dr. Drake, and everything sounded good. Just a few days prior to our appointment, I found out that she was named by US News as "Top Doctor". This indicates that she is among the top 1% in her specialty in the entire country which was completely reassuring.

We waited for quite a while, but then when she came in, it was very fast. She examined him, and discussed with me what she and his pulmonologist were worried about, which was the cleft I described in the Q & A post. We scheduled his laryngoscopy (similar to the bronchoscopy) for Monday, August 8th. She reassured us that most likely if he did have the cleft that it was probably a small one.

JoJo of course sported his Wolfpack Red and birdie in his arms. A few of the ENT staff tried to bribe him with an ugly-looking ram of some sort, but my smart baby said no! =) Raising him right!

Friday, July 15, 2011

Q & A....

Lots of good questions have been asked about JoJo and all of his testing/treatments, so I thought I'd answer them on here so everyone could read it because I'm sure your wondering, right?!? If you have a question you'd like to have answered, feel free to post an anonymous comment below & I'll try to update the blog with the answer!

1. What has Jordan been officially diagnosed with?

JoJo's "official diagnoses" thus far include benign myoclonic epilepsy, asthma, and Gastroesophageal reflux disease. He's also had RSV which placed him in the hospital when he was a baby chronic lung infections & sinusitis as well as Fevers of Unknown origin. Pending dx's may also include laryngeal cleft and periodic fever syndrome.

2. How much medicine does he take/how many different prescriptions does he have?

Jordan has several prescriptions he takes on a daily basis. He is on Keppra for seizures, which is twice a day. Of all of the anticonvulsant drugs, this one has the least side affects and does not require frequent lab work. He has shown zero side effects (thank God!) He also takes several medicines for the treatment of his asthma: Singulair, pulmacort and albuterol (nebulizer treatments) They've added in Prevacid twice a day for the reflux as well as prescribing thickened liquids. (nectar consistency) We have an amazing pharmacist who I feel knows our family really well-in fact the other day, the dr faxed in the prevacid script but in the wrong form & called me to double check that it was the wrong form (capsules instead of tabs that dissolve)

3.What tests & procedures have they done/what did they test for?

You name it, I'm pretty sure they've tested him for it! In all seriousness, he's been tested for Cystic Fibrosis (sweat test), he's had multiple immune work ups that tested for immunodeficiencies, he's had allergy testing, he's been tested for lyme disease, lupus, and double-stranded DNA. He's had an EEG, 3-day ambulatory EEG, an MRI and CTs of his brain, he's had multiple X-rays of sinuses and chest as well as regular blood work and urine cultures. He's had a bronchoscopy and a barium contrast swallow study. He's had multiple stool sample studies as well to rule out any kind of parasites, fungus, etc. He's had ear tubes placed as well when he was very young (5 months old I believe) for recurrent double ear infections that did not respond to treatment.

4. Have you thought about getting a 2nd opinion?

The good news is that there are several options for us to consider since we live in an area where there are many hospitals. In particular, we have access to some top research hospitals and medical schools found. So to answer this question: Yes, we've thought about that when JoJo's infectious disease doctor "Dr. C" kinda blew us off. We looked at Duke's Pediatric Infectious Disease program after we consulted back with our regular pediatrician. She asked her fellow pediatricians and the consensus for a recommendation for peds ID was Duke. We almost made an appointment with them when our pulmonologist, who returned from maternity leave, took charge of the situation and said that she would not rest until we discovered what was going on with Jordan. We promised we'd stick with UNC as long as we were getting somewhere, and we would call Duke as soon as we felt weren't. But JoJo's pulmonologist is awesome! She's our CHAMPION-she meant what we said, and we're so thankful to have her! So for right now, we're staying at Chapel Hill but we still have the numbers for a second opinion at Duke, as well as another out of state nationally known children's hospital.

5. What is a laryngeal cleft and why has it taken them so long to find it?

A laryngeal cleft is a rare abnormality of the separation between the larynx, or voice box, and the esophagus. Normally, when the larynx develops, it is completely separate from the esophagus so swallowed foods go directly into the stomach. When a laryngeal cleft occurs, there is an opening between the larynx and the esophagus so food and liquid can pass through the larynx into the lungs. There are several different types of laryngeal clefts (Types I through IV), classified based on the extent of the clefting. (from the National Institute of Health Office of Rare Diseases Research)

This is in fact a congenital birth defect, meaning it was present at birth, and it affects 0.01% of live births and affects boys more often than girls. It is usually found early on during infancy due to the presenting symptoms: feeding problems including aspiration, poor weight gain/growth, chronic lung issues including wheezing, recurrent pneumonia, etc.

JoJo has never really had feeding problems as an infant, and his weight & height, although on the low end (between the 5th-10th percentile), his growth charts continues to remain consistent. He's had recurrent pneumonia & bronchitis along with his asthma symptoms which include wheezing & coughing. Given the fact that he kept getting pneumonia, bronchitis and things of that nature, we assumed he had either an immunodeficiency or something was wrong with his lungs. We did not realize until just recently that he was aspirating. It was not until the day before his bronchoscopy when his pulmonologist asked us if he coughed or choked a lot when he drank. At first my initial reaction was no-but the rest of the day I watched for it. Sure enough, almost every time he had a drink, he was choking and coughing. Once the bronchoscopy came back showing his lungs were developed correctly and no bacteria that grew was abnormal, the team of doctors decided to look at the aspiration possibility. And that's where we are now.

6. I thought you were an NC State fan! Why are you going to UNC?

OF COURSE WE'RE NC STATE FANS!! But even the pride for our favorite college would not stand in the way of getting the best care for our son and right now, the NC Children's hospital gives us just that! Not only is the UNC peds pulm. department ranked number 10 in the entire country by the US News and World Report, (NC Children's hospital is the only children's hospital in NC to rank in the top 10 in any department by the way!) but we've also been treated so well at UNC-almost every interaction with someone from the UNC has been positive! The nursing staff is amazing and JoJo has become a nurse favorite. They repeatedly go out of their way, above and beyond what they have to in order to make us comfortable. They do their best to schedule all of JoJo's appointments and procedures around the same time since they know we drive a ways to get there. The radiology department always thinks of not only Jordan, but of brother and sister at home. Every time we return home from UNC when he's had to have an X-ray or CT, he's always been able to bring his siblings stickers home! Even the valets are good to us-every single time we go, at least one of them remember's JoJo's name which is pretty impressive. (Maybe we tip well, or maybe JoJo's just really memorable...either way it's pretty remarkable.)
That being said, we do our part to make sure that we let our loyalties be clear every time we are there. JoJo usually rocks an NC state outfit or shirt and Mama usually sports hers too. We are almost always are given a "hard" time about it every time too. Usually it's a funny comment like, "Normally I wouldn't treat an NC State fan, but he's so dang cute I guess we can make an exception!" Sometimes on the way home, we even stop by the GO PACK store in Raleigh! Here's a few pictures to document it!
Jordan during his 3-day ambulatory EEG not only wore his Wolfpack gear, he also sported it on the gauze!
At the NC Children's Specialty Clinic in Raleigh before we met our diagnostician "Dr S"
Worn out but wearing his wolfpack red!
Have any other question about Jordan or his "issues"? Feel free to leave a comment below and I will do my best to answer it! Thank you for your continued prayers as we journey further on this road, even though I thought we were almost finished!

JoJo update

Hey everyone! Just a quick update about Jordan's recent trip up to Chapel Hill. I'm sorry it's taken a few days, I just wanted to make sure I had all of my information before I shared everything so I didn't have to keep correcting and/or updating. We saw JoJo's infectious disease doctor ("Dr.C") again who order repeat xrays of his sinuses, and said that he was going to be following JoJo along, but that his diagnostician ("Dr S") would now take over his place for the most part since Dr. C felt he had tested everything he could test for and they had all come back fine. This was a bit of relief for me b/c the ID dr was always late and did not "do" much at any visit.

After that appointment, we saw Dr S and he said the recurrent fevers would probably just fall under a periodic fever sydnrome that would not need to be treated. It would just have a label but not treatment. He repeated some immune tests Dr C had already done becaue one of them was quite high, but according to Dr C "not high" enough to be of concern. Dr. S said he'd only ever seen one patient with hyperIgD syndrome, but he wanted to make sure we had "dotted all our i's and crossed all our t's" So he repeated IgD and IgE levels along with a CBC (blood count). He thought that if after he repeated those counts & everything came back normal, that he felt confident that JoJo probably did not have one diagnosis that could incorporate all of his "issues", that it probably would just amount to either being multiple dx's or just being unlucky.

After those appointments, we went and had his xrays of sinuses and chest done again followed by his barium contrast swallow study. The speech lady told us that JoJo was in fact swallowing food whole and that he's also aspirating both liquids and food. They prescribed thickened liquids for him. After that, she said she would talk over the test again with our pulmonologist, we'll refer to as our "Champion" and we'd get the prescription for reflux the next day. I left there relieved that we were at least getting some where and hopefully, once we corrected the aspirating issue, maybe we could get rid of all his chronic lung issues. That night at the Ronald Mcdonald house, we were able to relax, enjoy the cupcake decorating that a great group of volunteers put together and the commradary of the other families there. When we checked out of the RMH on Thursday AM before his last appointments, I felt so relieved that this "trial" was almost behind us. In fact when the lady asked me when we'd need to be put back on the Waiting List, I proudly told her that Lord-willing the next time we'd be back would be to volunteer! We all did a little dance and were excited. I remember that feeling as I walked to the car of how good it felt to be almost done!

JoJo enjoyed "cupcake decorating" one evening at the Ronald McDonald House, which meant he ate his weight in Jelly Belly's!

JoJo with his friend Victoria on the butterfly chair out back of the RMH!!

But when Dr Champion came into the room, I knew something was up right away. She normally comes in and is all cheery and saying how everything was looking good. But she started off by saying "Well, it's been quite a few days for you guys huh?" Then I got a knot in my stomach and I knew it wasn't over so fast! She said that given the fact that he was aspirating as the food and drink goes down rather than having reflux aspiration after the fact, she said she's concerned that he may have a laryngeal cleft. Basically it is a congenital defect/malformation or hole near his voicebox that keeps food and drink from going down into the lungs. She referred us to an ENT at Chapel Hill for another bronchoscopy type test because she said although the flexible bronchoscope could see somewhat, it was not as sophisticated as whatever the test he needs is. She said at his age, he really should not be aspirating unless there was an anatomical cause for it and that it would most likely require surgery to repair it. She also said that when she looked at the path reports from the bronchoscopy, there was a lot more food particles in there then there should be. She prescribed him Prevacid for his reflux issues as well. When she looked at the xrays from the day before, she said that his chest xrays were clear but his sinuses were thickened indicating sinusitis (sp?) but she thought it was not warranting another antibx script as of right now. She mentioned the fact that if he did have the cleft, it would not explain away the fevers of unknown origin, but that again, that was Dr. S territory.

I know this sounds silly when I say that I'm disappointed and bummed. I know it could be worse. I know that this will probably lead to him being a lot healthier in the long run. But I was on such a high yesterday morning when we checked out that it really caught me off guard when she said it wasn't "over" yet. Again, I know families that have kids that are battling life-threatening diseases. Several of them are my good friends and I've stood by their side during treatments, surgeries, biopsies, etc. What I also know is that my disappointment that my son's not done with his road of testing, doctors, hospital stays, etc is very real, regardless of the comparison to another. We all have our own struggles, our own road to journey on. I was just thinking that our road was almost done with hospitals and the medical field in general and turning on to a different portion of the road, like maybe a nice straight, smooth one. At least for a little stretch, anyways. (I am a realist and understand that I have 3 kids, 2 of which are of the male persuasion and therefore cannot expect to be "done" with hospitils, doctors for many years haha!) Maybe that smooth stretch of the road is just right around the corner but we'll never know if we don't keep going forward despite our road being covered with potholes....

This boy keeps us laughing: I asked him to make a silly face, and this is what he gives me!!