1.28.17
Please say a prayer for Aimee. She has caught another sickness it seems. She is feverish and breathing very shallow and rapid. Her heartrate is quite high, even on bipap. Praying that she is able to get rest and that breathing treatments become more successful than they have been thus far.
1.19.17 It's Looming
Here they come looming ahead, the dread IEP and the annual DDA assessment.
So I thought. So I still feel about the dread IEP. However, as of 11am this morning, I have faced down the annual DDA assessment. This was done in our home by the same evaluator as last year. It went so well! The assessment determines how many hours of personal care Aimee will receive per month in the coming year, as well as, how many waiver respite hours she will receive. The whole process was very smooth this time. Aimee received the same number of care hours and her waiver respite hours increased by 30%! So grateful!
In preperation for that dread IEP, we received the most recent therapy updates. It was ugly. On this progress report there was not a single positive word. Her 3rd IEP in this district is coming and there is not a goal written down that Aimee has made progress towards or realistically ever could. Most of the goals she really hasn't even met what was written as her baseline. "She has not made any significant progress on this goal" multiplied over and over. "Downgrade goal due to student's abilities" "Student at baseline". I am vacillating between a desire to tear up the idea of goals and frustration that there is not a single current therapist that believes in her. Wether from lack of experience with more severely disabled kids (seems likely) or from lack of interest, it does not appear that effort is being made. Is it really worth it all to send Aimee to school? It can't be. Could it be worth all of the drama, continual paperwork, blasé therapy, risks. No, it really can't be. Except, Aimee is worth it all and she enjoys school. So, IEP, I am preparing my battle face for you.
We've lived through a flu and had a few other appointments for Aimee since my last post. The only item of note was with her dentist. She had local anesthesia to have a tooth pulled and they are trying to determine if they need to surgically remove more under general anesthesia. We were also able to determine the cause of the intermittent bleeding in Aimee's mouth. It appears that due to her significant underbite and aggressive grinding, she is causing the bleeding herself by grating the lower teeth on the upper gumlime. Yugh. Don't do that Aimee.
1.3.17 Simply Hope
As a part of these discussions, he frequently wonders about Aimee and her future. He wonders about practicalities, like if he will "eat out of a bag" when he is 7 and if Aimee will be able to talk when she is 8. He prays for her often that she will be able to walk and talk and sing. We have discussed many times that in heaven we will all be whole, including Aimee. That Jesus is making a place for us where there is no pain, no unkindness, no tears. He is very excited to go there. And when Aimee goes to heaven, in Caleb's enthusiastic words, "She'll know how to cook!"
Can't wait to sit down with Aimee and Jesus to taste her first meal in that perfect place. So thankful for the childlike reminders to hold tight to that hope.
12.13.16 All About That Spine
This week has a spinal focus. We started on Wednesday with a back surgery for Ed. Aimee provided emotional support and Ed is recovering at home this week. 
Yesterday we took Aimee in to consult, in a joint appointment, with the Orthopedic surgeon and the Pulmonologist. We had new x-rays and a different type of lung examination.
Seated X-ray:
Traction x-Ray:
The good news is that there has not been a significant change in the traction x-ray (when they try to pull her straight) over the past few months. Other than that, it was mostly not great news.
My expectation going into this appointment was for them to see no change in her x-ray and for the pulmonologist to listen to her lungs/check her o2 sat and tell us she sounded clear and her sat number is great. Instead, this doctor did an indepth questioning of Aimee's history and a much more thourough pulmonary exam. He listened to both her lungs together, measured different distortions in her chest, and gaged the effort it is taking her to breath.
I don't know all the terminology for these things yet, but the short of it is that her lung function is being impaired by the curving and twisting of her spine, as well as, the distortion and flatness of her ribs. Her left lung is particularly impaired. The doctor said that there is a delay in her exhale on that side, meaning smaller openings. There is a significant handle on that left side back of her ribs. He showed me to watch for breathing effort on the base of her throat. She works hard to breath.
We will go back in after this flu season to remeet with these same 2 doctors. Together they will decide when it is time to intervene, which they anticipate will be in the next year or so. This intervention will be a spine surgery to add magnetic growth rods, something that we had hoped was much further away.
12.1.16 Doctor's Prognosis
It is icky to talk about end of life ahead of time, but, practically, we have to discuss it. Here is what we heard from the neurogenetics doctor.
The first questions addressed in this issue were financial. Do we need to worry about who will take care of our child when we pass away? Do we need to be concerned about caring for our child as she grows and we age? He was strongly of the opinion that we do not need to plan for either event. This brought a sickening blend of relief and repulsion inside of me. It is terrifying to think of leaving Aimee's care to anyone else. Yet... he gave her no chance.
As far as life expectancy in numbers, this doctor gave her a 50% chance of living to 14, 25% of living to 21, and down quickly from that point. His opinion is that the body wears down exponentially fast under these conditions.
Lastly, the doctor encouraged us again to discuss (and continutally rediscuss) our wishes as far as care and resuscitation in case of life threatening illness. He recommended attempting to make this decision from Aimee's perspective, not from a parent point of view. We would try to take into account her comfort, her quality of life, her ability to live the life she enjoys. We don't want to miserably prolong life beyond its natural ending basically.
In all of this, we come back to Aimee. Aimee is happy, healthy, and having fun. She is delighted that Christmas lights are up and music is playing. She is here and she is enjoying living! There is future to discuss, hypotheticals to consider, and then there is this smile to catch.
11.27.16 A Silver Bullet
We left our appointment with Neurogenetics on Monday with a multitude of emotions. One of them was hope.
Dr Dobyns described to us that knowing the underlying cause of Aimee's symptoms could allow us to find a "silver bullet" solution. We now know that her brain cells are not communicating well due to the signal being damaged by malfunctions in the potassium channel. Dr Dobyns is guessing that Aimee's malfunction is causing the channel to remain nearly closed. It is blocking signals. He is making this guess based off of the fact that Aimee's seizures are much less of an issue for her and her developmental delay and central nervous system issues are a much bigger issue.
Back in 2013, this potential for a targeted approach was described by an article from the American Academy of Neurology:
There are two major types of KCNQ2. The first is known as BNFE, which is Benign Familial Neonatal Epilepsy. It has zero detrimental long term effects and seizures end early on in life. The second is labeled as NEE or Neonatal Epileptic Encephalopathy. It has varied effects, though all include at least some form of intellectual disability. In the above reference, it is discussed that there is a possibility of creating a therapy to turn the severe form (which is what Aimee has) into the benign form.
Since the above article, a designer drug has been refined, which is "an activator of neuronal expressed KCNQ channels." This medication is now in its 2nd generation and it has shown hopeful results, including increase in cognitive function. This precision medicine is known as Potiga (Ezogabine/Retigabine). Unfortunately, it is being pulled from the market this coming summer due to the low number of sales. We are joining an effort with other KCNQ2 families to petition the maker GlaxoSmithKline to keep this option available for the increasing number of patients diagnosed. That being said, more recent articles do reference newer, improved drugs that are in early developmental stages. It is an amazing feeling knowing that, although there is no cure, there is hope for normalizing function.
Dr Dobyns described to us that knowing the underlying cause of Aimee's symptoms could allow us to find a "silver bullet" solution. We now know that her brain cells are not communicating well due to the signal being damaged by malfunctions in the potassium channel. Dr Dobyns is guessing that Aimee's malfunction is causing the channel to remain nearly closed. It is blocking signals. He is making this guess based off of the fact that Aimee's seizures are much less of an issue for her and her developmental delay and central nervous system issues are a much bigger issue.
Back in 2013, this potential for a targeted approach was described by an article from the American Academy of Neurology:
Until now, the focus of treatment of patients with epilepsy in general has always been on treating the symptoms, i.e., seizures. Nevertheless, now that increasing numbers of genetic causes of EE (epileptic encephalopathy) are being discovered, we should start targeting the underlying cause rather than the symptom. In the last few years, gene therapies for neurologic diseases are being intensively studied in neuromuscular disorders and Huntington disease... In the field of epilepsy, we are still lagging behind in targeted gene therapy development, and it is time to make the mental shift when we think about developing novel epilepsy therapies. Indeed, specifically inhibiting transcription or translation of the mutated KCNQ2 allele would lead to a loss-of-function situation, mimicking a KCNQ2 deletion, which in turn is known to lead to the milder BFNS phenotype. Such a strategy therefore has the potential to turn a severe EE into a benign neonatal epilepsy syndrome.
(From the Neurogenetics Group (S.W., R.H., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., R.H., A.S., P.D.J.), Institute of Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaege (S.W.), Oosterhout, the Netherlands; Department of Paediatrics (V.I.), University Hospital Centre Zagreb, Croatia; Division of Pediatric Neurology and Metabolism (R.V.C.), Department of Pediatrics, University Hospital Ghent, Belgium; Danish Epilepsy Centre (H.H., R.S.M.), Dianalund; Institute for Regional Health Research (H.H.), University of Southern Denmark, Odense; Department of Child Neurology (S.G.), Juliane Marie Center, Rigshospital, Copenhagen, Denmark; Pediatric Neurology (A.-S.S., B.C.), Department of Neurology (A.-S.S., B.C., P.D.J), Antwerp University Hospital, Antwerp University, Antwerp, Belgium; Epilepsy Research Centre (S.B.H., S.M., I.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Great Ormond Street Hospital (C.E.), London; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Child Neurology and Neurorehabilitation Unit (G.C., M.A.), Department of Pediatrics, Central Hospital of Bolzano; Neurology Unit and laboratories (T.P., R.G., C.M.), A. Meyer Children's Hospital, Florence; Child Neuropsychiatry Unit (L.G.), Spedali Civili, Brescia, Italy; Padiatrie I (K.R., E.H.), Division of Pediatric Neurology, University Hospital Innsbruck, Austria; University Hospital Essen (B.A.), University Duisburg-Essen; Department of Paediatric Neurology and Developmental Medicine (A.B.), University Children's Hospital Tubingen, Eberhart Karla University Tubingen; Center for Child Neurology (I.B.), San Krankenhaus Gerresheim, Dusseldorf; Department of Neuropediatrics (S.S.), Hospital for Children and Adolescents, University of Leipzig, Germany; Department of Neurology (B.S., A.P.), Boston Children's Hospital, Harvard School of Medicine; Department of Biology (B.S.), Brandeis University, Waltham, MA; University Children's Hospital (J.R.L), Division of Human Genetics, Inselspital Bern, Switzerland; Departments of Radiology (S.M.) and Pediatrics (S.M., I.S.), University of Melbourne, Royal Children's Hospital, Melbourne; Florey Institute (I.S.), Melbourne, Australia ; and Pediatric Neurology and Muscular Diseases Unit (P.S.), Department of Neurosciences, University of Genoa, G. Gaslini Institute, Genova, Italy: Extending the KCNQ2 encephalopathy spectrum, American Academy of Neurology, 2013 Nov 5; 1703)
There are two major types of KCNQ2. The first is known as BNFE, which is Benign Familial Neonatal Epilepsy. It has zero detrimental long term effects and seizures end early on in life. The second is labeled as NEE or Neonatal Epileptic Encephalopathy. It has varied effects, though all include at least some form of intellectual disability. In the above reference, it is discussed that there is a possibility of creating a therapy to turn the severe form (which is what Aimee has) into the benign form.
Since the above article, a designer drug has been refined, which is "an activator of neuronal expressed KCNQ channels." This medication is now in its 2nd generation and it has shown hopeful results, including increase in cognitive function. This precision medicine is known as Potiga (Ezogabine/Retigabine). Unfortunately, it is being pulled from the market this coming summer due to the low number of sales. We are joining an effort with other KCNQ2 families to petition the maker GlaxoSmithKline to keep this option available for the increasing number of patients diagnosed. That being said, more recent articles do reference newer, improved drugs that are in early developmental stages. It is an amazing feeling knowing that, although there is no cure, there is hope for normalizing function.
11.24.16 De Novo KCNQ2
Yesterday I got a confirmation phone call from the genetics lab that there were zero KCNQ2 genes in either Ed's or my blood. They are confident that this is a sporadic mutation, which means that although it is in the gene, it is not inherited.
However, they cannot give us a 0% chance of having another child with the same genetic mutation. There is a slight possibility of germline mosaicism, though this risk is approximately 1%. The medical recommendation is amnio testing on any future pregnancy, which they estimate to be near 100% accurate for gene mutation. This doctor would recommend termination and said that he would not see why another course would be chosen.
Obviously, Ed and I had already made a decision to continue having children without waiting for a diagnosis. We knew it would potentially be a risk. This is not a simple decision to make, but we see Aimee as valuable and worth raising. We would be very grieved if there was a reoccurance, but we would not consider missing out on bringing a precious person into our family whether disabled or fully able. To be clear, I can understand the great pain that would cause a family to choose termination. I can understand, though it breaks me, because I also know how much we would have missed without Aimee.
That being said, one of my primary questions after we received Aimee's diagnosis was for Caleb and Elliot. Could they possibily be carriers? Blessedly, no. There is 0% chance that they would pass this mutation to their own children. If they had received a single mutated cell, it would have been in all their cells, meaning that they would have been in the boat with Aimee. They have no chance of passing KCNQ2 on to their children.
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