Thursday, August 28, 2014

Another EEG and Surgery #4

I haven't posted in awhile because not much has changed for McKenna. Still getting tube feeds. Still getting unexplained fevers and random sweating episodes. The combination of her dysautonomia and hypoglycemia have posed problems with getting too much summer sun. Luckily, after the last hypoglycemic hospital stay, I have the knowledge and tools to prevent that from happening again. She has dropped 3 times into the 50's, but nothing that couldn't be handled with some boluses of juice!

Here's the GREAT news: Despite the threat of overheating from summer, McKenna has spent more days at home and in good condition this summer than any other season since she was born. She has some pretty cool looking princess braces for her ankles. Since she has started wearing them, her ankle bruising has mostly gone away. She has adjusted to them well and I believe they gave her the boost into walking more confidently that she needed. So much so that starting in October, we are hoping to move to PT every other week instead of every week. I'm so happy we decided to start PT proactively because she has almost caught up to what is considered developmentally appropriate behavior for a 16 month old. OT will still be every week for awhile. She has a few sensory issues we are working on.

After my last post, we followed up our first 48 hour EEG because she was having staring spells. We failed to capture one of those during our inpatient stay, so the results were mostly inconclusive. Two weeks ago, McKenna starting falling, bluntly, on her face. Not tripping or losing her balance, just falling from standing positions until she hits her head on the ground. Scary to see it happen, especially the bruising and bleeding that comes along with it. So that has won us another 48 hour EEG, which we are currently inpatient for. It was convenient timing to do it now because we are combining it with MK's fourth surgery which will be tomorrow.

Tomorrow, August 29th, the day of her fourth surgery, is one year to the day of the first time we were admitted to this hospital and when she had her first surgery. One full year of this chaos. Many ups and downs, many new symptoms along the way, but I think (and hope) that we are in a better place than we were a year ago.

Tomorrow's surgery is easy. Ear tubes, adenoids, and upper GI scope. Piece of cake. McKenna was also supposed to get her frenulem lip tie cut, but she happened to split that herself during one of her falls when her face met a chair on the way down. And yes, the result was as bad as it sounds. It is supposed to be a day surgery, but the anesthesiologist informed us today that she will be intibated, so that might win us another night here. She will stay on IV fluids (with dextrose) with regular finger sticks to make sure her sugars are stable after being NPO. GI will do biopsies from the scope to get a baseline and make sure we are managing things well from a reflux/chronic aspiration perspective.

These multiple day EEGs with a toddler who is wired to the wall with less than a 4 foot radius to move around in is not fun and certainly makes you stir crazy. But after tomorrow, we are hoping to be away from this place for awhile, at least until the cold weather hits!

As always, McKenna couldn't be a happier baby. She rolls with the punches and has learned to flirt with the doctors and nurses quite well.
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Tuesday, June 24, 2014

McKenna's Update: Another Admission and Another Scheduled Surgery

A few weeks ago, we had several appts. As a result, we got meds to protect Kenna's lungs. We saw Neuro and at that time, we thought we were at a healthy enough point to not see them for another 6 months. McKenna was eating more by mouth and gaining lots of weight, so we adjusted her continuous feed to make room for that.

Two and a half weeks ago, McKenna got a high fever. No other symptoms. This is very typical for her and we still have no answers as to why she gets them. These "fever episodes" usually last a couple of days, at the most 5 days. This was different, it lasted 13 days. Fever was as high as 103 but usually settled out around 101. They aren't constant, but they come and go several times a day, everyday for 13 days. Four days into the fever, McKenna had what seemed to be an absence seizure. It happened two more times in the next three days. After calling the neurologist a few days later, she seemed worried about these episodes. We were already headed to Boston the next day anyway, so they scheduled a one hour EEG while we would be there.

All while this was happening, McKenna took her first steps on her own! This was also day four of the fever episode and the same day as the first seizure. However, with great news comes some not so great news in McKenna's case. After the first day of walking on her own, she developed bruising on her ankles. The next day she was still taking steps, but the bruises got worse. So the same day we were headed to Boston for the EEG and Endocrine appts, we were able to make an urgent Ortho appt.

The results from the EEG came back normal which is great news. Endocrine said at this point, that they are going to watch her growth curve over the next 6 months, and possibly check her growth hormone levels again if needed. During the Ortho appt, we had xrays taken of her ankles to make sure she didn't have any hairline fractures caused by brittle/malnourished bones. The xrays were good so no casts needed. The dr did notice that the peroneal tendon on her right ankle is stretched out and is rolling over the bone when she moves it. So that could be causing some of the bruising. Because it was an urgent care appt, the dr wouldn't provide anymore help with figuring out the cause and said we should make the next available appt which is in September. We are trying to get in somewhere before then because she is so hesitant to walk now, that most days she doesn't at all.

The fever pursues and so does symptoms of a coincidental infection. Day 8 of the fever, McKenna aspirated and had a very very rough couple of days with junkiness and congestion. Day 10, we went to the pediatrician and found out she had a nasty ear infection. After three days, three rounds of antibiotics and three dr visits to the pediatrician, the ear infection finally went away.

Which brings us to the biggest day of appts, this past Thursday. Because of the sickness, McKenna lost almost 1 lb in a week. So we saw nutrition to make adjustments to her feeding schedule/volume. Doubling her free water should help with her extreme motility issues that had worsened with the fever.

Next up was Metabolism. We met with the genetic counselor first and then with her and our attending meta dr. After much hesitation on their part, we started the discussion on whether or not MK has mitochondrial disease. It's not an easy diagnosis to get or to have. The first way to diagnosis is muscle biopsy, but they would prefer not to do that as it's invasive. The next is doing genetic testing that would test 139 of the genes that McKenna inherited from Ryan and I. Unfortunately, that one test is $10,000 out of pocket, so that will not happen either. The third option is getting a clinical diagnosis. So we are now on the waiting list for an appt with the neurometabolic clinic. From what I am told, it will be a 4 hour appt with our neurologist, our meta dr, genetic counselor, a neurometa dr, and the head of the mito clinic, all in the same room at the same time. They will review her chart from the beginning and hopefully come to a decision on the diagnosis. That way she can be treated properly.

Next up was a routine hearing test. The last time we had seen genetics, they wanted a routine ear and eye check, since they had not been done before. I was expecting normal hearing results. But McKenna doesn't do normal. She didn't pass and had a lot of fluid built up in both ears. We were headed to ORL next anyway for her frenulam lip tie, and now we had another reason to see them.

We met with our ORL surgeon who has performed three surgeries on McKenna. The result of the appt was a three for one surgery. She needs ear tubes and the lip tie fixed. I knew that kids with tubes often get adenoids out at the same time so I asked about that. We decided to scope her (small tiny camera down the nose into the back of her throat) in clinic, and as i suspected, her adenoids also need to be removed. The dr asked me if MK chokes in her sleep, to which my reply was "every single night since she was born". He said that was the reason and the adenoids should have come out the last time he was in there. In the end of August, almost to the exact day of McKenna's first surgery, she will have a triple combo.

We have notified McKenna's other services that she is having the surgery. This gives them all the chance to perform any other surgeries or tests all under the same anesthesia. So far we have added an additional upper endoscopy from the GI team. Possible others.

The latest news is that we got a call from neurology today. They told me that it is increasingly hard to discuss new and evolving issues over the phone, with us in CT, and would like us to get directly admitted for 48 hours to run some tests. So we are headed to Boston tomorrow afternoon and are hoping to get out on Thursday. The tentative plan is to meet with all of our attendings, run a 48 hour EEG, get a spinal tap and see a new service, Hematology.

McKenna is currently in great spirits and it will be interesting keeping her in a hotel bed for two days, now that she is mobile!
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Sunday, May 4, 2014

MK's Update: Getting Closer

In the last couple of weeks since being discharged from our most recent stay at BCH, we have had one ER trip, a few doctors appts in Boston, and one very very long case of pneumonia. Going on three weeks of this coughing/choking/gagging episode with no end in site.

We immediately switched pediatricians to a practice who I think can handle McKenna's care. I met with the new pediatrician before making the decision and made sure they were aware of how complex McKenna is and what I will expect of them. They seem very understanding of our situation and confident they can be a valuable part of McKenna's team.

We had a follow up with Nephrology and received great news. There is no more protein or blood in her urine and her kidneys look great. One less specialist we need to see!

Two days later, we had a third consult with genetics. Since the last time we saw them, a lot has happened with McKenna that has changed the way the geneticist is evaluating her. But the first thing she asked me, is "what did endocrine say about her growth hormone levels?" This caught me off guard. When we were in the hospital for hypoglycemia this past time, endocrine told us that there were two main reasons they would see this in infancy. The first was tested for while we were inpatient and the results were negative. The second was growth hormone and they said it would take a week to come back, but they had no reason to think it was abnormal and would call us if it was. I never heard from them. So when the geneticist told me her levels came back low, I was more certainly surprised. That's a game changer in figuring out the puzzle.

There are a couple of specific syndromes that genetics is looking at now given the new information and her list of diagnoses. They are almost positive it is mitochondrial either way. She had a skeletal survey done last week which included 20 xrays of every bone in her body. Her weight and height are in the 6-7% range, while her head is now in the 98%. More genetic testing could definitively tell us what the underlying diagnosis is.

While checking her over, the geneticist found that McKenna's top lip, on the inside, is attached to her gums. It probably wasn't noticeable before because she didn't have any teeth up there. But just last week, her top two teeth have come in. The connected part has created a gap in those front teeth. We are following up with ORL next month who will likely fix it.

The other factor that genetics is now taking into consideration is her 13q gene deletion. This was identified in her micro array (basic level of genetic testing) performed months ago. But at that time, once they confirmed that I have an identical deletion, they wrote it off as nothing. Examining it more closely, they are now saying it's a huge deletion and could mean more. Our shared deletion is well over 1000. At this level, it doesn't matter that she inherited it from me. At the larger size, it affects everyone differently. There are 6 genes associated with this deletion. So another round of testing on that could tell us if those genes are connected to her issues.

This week we see Pulmonary which is long overdue. We are not looking for them to provide further diagnoses, but they will be important in providing care to protect McKenna's lungs. She has been aspirating/refluxing at all levels for 12 months and that can have long term effects.

Next week we have a full three days of appts. She's having a procedure on Tuesday which will help tell us more about the cause her motility issues. We will also see GI, nutrition, feeding team and neurology.

Good News: McKenna is making great improvements in physical therapy. She is great at butt scooting and her strength is improving. We will be starting occupational therapy this week and feeding/speech therapy next month.
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