text from Addison's physical therapist
That's the truth.
Last Sunday we were enjoying relaxing with family and visiting with friends and looking forward to traveling to Connecticut for Addison's much anticipated surgery. We were eager to have his repairs and get him on the road to swallowing and talking. A week later more than a hundred of us are simply praying we can restore normal brain function.
When Monday came everything changed. Instead of packing our suitcases to head to the home of Yale, Allen and I found ourselves rushing Addison to CNMC in DC where he was admitted for diagnosis and treatment of a rare and very severe form of epilepsy.
Since June 29th we had noticed Addison's behavior was not like himself. At first we chalked it up to a very busy Sunday. He must be tired. Sundays always wear Addison out for Monday. But Monday dragged into Tuesday and then Wednesday. He became increasingly lethargic and less responsive.
With increasing frequency his head would all of a sudden drop to the left and then come back up quickly. When Addison is tired or sick his hypotonia becomes more apparent and with our busy schedule, house guests, birthday celebration and the holiday weekend we thought he was just tuckered out. But something didn't sit right. I was becoming more and more concerned. Over last weekend I had typed (and deleted) several texts to his PT asking about this strange behavior which appeared to be related to Addison's hypotonia. And yet, I didn't want to bother her over the weekend for something that seemed like it was probably nothing. Finally on Monday morning I couldn't stand it anymore and I hit send. And I am so glad I finally followed my instinct.
Miss Trudy asked if I wanted her to come. She lives quite a bit away and I didn't want her to travel out to our place if it wasn't necessary. I told her only if she thought it was important. She asked me to send her a video. Addison was very tired and went down for a nap just about that time. I told Trudy I would send a video when he got up around lunchtime. A few minutes later she sent a text and said she was coming to see him.
I can not tell you how blessed we feel to have Miss Trudy as part of Addison's team. Not only on this occasion, but since we first met she has encouraged us all through his care. I have no doubt she loves this boy as we do and would do anything to help him reach his potential.
When Trudy arrived Addison would not wake up from his nap. We decided to let him sleep and Trudy said she would come back in an hour or so when he typically gets up from his nap.
In the meantime we talked about how to proceed. We decided an email to Addison's geneticist. I explained what was happening and that we would try to make a video when his PT returned but that right now we couldn't get him awake.
And this is what makes a good doctor. The key that caught Dr. L's attention wasn't even the main point of my message. What alerted her to something possibly being very wrong was that Addison was sleeping so soundly in the middle of the day. A good doctor knows how to read between the lines.
When Trudy returned we made a video and she said she was thinking it was possibly seizures. If anyone besides Trudy had told me that I wouldn't have taken them seriously. I have seen seizures and what we were seeing in Addison in no way resembled those violent episodes I was accustomed to. We again talked about how to proceed. The pediatrician and ER seemed like a wasted step since we would need to get him to Children's Hospital where his specialists are all located. We decided to send the video to his geneticist and get her opinion and perhaps some help getting a quick appointment with the pediatric neurologist.
And this is where I say I am so grateful for Dr. L being part of Addison's team. My phone rang within minutes and Dr. L was on the other end telling me, "I want you to drive safely but bring Addison to Children's and have him admitted to the neurology floor as soon as possible." She had already been in touch with the neurologist and after viewing the videos they both agreed what Addison was experiencing was Infantile Seizures. She explained that quick treatment was essential to a good outcome.
Along the path to getting him hooked up to the Video EEG many doctors and nurses asked to see the videos we had taken on Allen's phone earlier in the day. That should have been our first clue something unusual was taking place. Every time someone looked at the video they would just nod and say, "Huh, interesting." Just like that.
After all was said and done the neurologist explained the EEG was really unnecessary (except it needs to be part of the record to verify his condition) because the type of seizure Addison was having has a very unique presentation. Truly, if you don't know Addison, you would not even notice anything was happening.
The subtle visual signs of the seizures are such an incredible contradiction to what is really going on in our sweet boy's brain. As soon as he was wired to the EEG and the tech turned the machine on she started asking us in a very panicked voice, "What's he doing? What's he doing?" And he wasn't doing anything. She immediately called the head of neurology at home. By then it was quite late at night. We didn't need to look at the screen to know something was definitely wrong.
But I looked. When I was younger and into my teen years my dad did EEG's. I had spent a lot of years looking at the printouts. While I couldn't read and EEG, I knew what a normal EEG was supposed to look like and the tangled mess of lines all over the screen was definitely not it. Addison's brain was shouting messages all over the place. Instead of the nice tidy zig zags I was accustomed to seeing, his brain waves resembled the stitching of a crazy quilt.
I now know, this is called Hypsarrythmia. His neurologist explained the seizures aren't the really concerning part. It's that his brain is so chaotic in between seizures it gets to a point where it can no longer function. That's when he has a seizure. It's like his brain can't take it so it tries to reboot.
Even as I write my heart breaks for about the thousandth time thinking of how much he is suffering. While he suffers no physical pain, it's like constantly being in a room full of noise and input and not being able to make sense of any of it because there are so many people shouting and so much noise that it all blends together.
At midnight, the doctor who was covering the night shift came into Addison's room and explained the neurologist wanted her to send some pictures of the EEG so she could see what was going on. No kidding, she pulled out her iPhone and snapped photos of the EEG. A few minutes later she came back to confirm what we already knew... something was terribly wrong. She said Addison's EEG was very abnormal and tomorrow morning a team of neurologists would be in to see us.
Most of the night Allen and I took turns holding Addison and pacing in front of the EEG. Again we had to ask the question, "What will Addison's future look like?" And again we had to arrive at that place of peace where it doesn't matter because whatever is in store for Addison it is in God's hand and he will reach the potential God has for him.
At 9 am a dozen neurologists arrived in Addison's room. Have you ever been in a room full of neurologists who are arguing about what course of treatment is best? Talk about intimidating. Especially, when you haven't slept in 24 hours and you maybe don't fully agree with them.
We learned a lot in that time. Infantile seizures is a severe form of epilepsy. In the general population it is also very rare. However, 10 percent of children with Down Syndrome suffer from this form of epilepsy, also called infantile spasms. While in the general population there is almost always a cause such as stroke, head trauma, illness or birth trauma, in people with DS there is often no known cause. Because of the underlying causes, infantile seizures are associated with severe mental and physical delays. In children without DS it is often very difficult to control seizures and often they will develop a second type of epilepsy. However, children with DS seem to respond better to treatment. There are drugs that can be helpful in treatment, but they are all very harsh and some are extremely hard to get and very expensive. One drug in particular can take 3-4 weeks to get and cost $125,000 (no, that is not a typo) for a one month course of treatment.
After much debate and discussion we arrived at a treatment plan all the neurologists, the geneticist and Allen and I felt comfortable with. We started with 14 days of a high dose of prednisone to try to reboot Addison's brain. His lead neurologist believes (and studies have shown success) that we may be able to restart Addison's brain waves and restore normal function. It is her hope that within 7 days we will see a reduction in the number of seizure episodes and the number seizures in succession during each episode. If not his doses will be doubled to try to get the desired effect. We will repeat the EEG in 14 days to see if the hypsarrythmia is resolved. If it is not he will be moved to 2 injections a day of ACTH. He will stay on this drug with EEGs every two weeks until his EEG is normal. And regardless, he will have regular EEG's for some time to make sure his brain activity remains normal.
Oh, and we had to cancel his surgery scheduled for this week. While we understand the necessity, this is a huge disappointment since we have sought for a solution to his swallowing problems for so long. If all goes according to the treatment plan, his team believes he may be able to have his surgery in about three months.
During the treatment time Addison will also be taking Zantac because Prednisone in particular is known to cause ulcers. It also can cause dangerously high blood pressure and blood sugar. The neurology team agreed to allow us to monitor and report his BP and BS from home instead of taking him to the doctor constantly for monitoring. This medication suppresses the immune system and slows healing making Addison very vulnerable to serious infections. That means we are in isolation for the duration.
In the next few weeks we will also do further testing (MRI) to look for triggers in the brain (brain injury, stroke, tumors or lesions). His team agreed to allow us to do this on an outpatient basis so we could take Addison home to his family where we knew he would do better. In addition to the seizures causing Addison to zone out and be extremely lethargic, the medicines make him very jittery and agitated.
We began treatment in the hospital so the doctor could monitor his response. He responded very favorably with no initial rise in BP or BS. We were so happy to be able to return home on Tuesday evening.
His blood sugar shot up by the second day but it did not reach the high ceiling. And it has been creeping down a little bit each day since Wednesday.
His blood pressure continues to hover at the high cutoff. Either just below or 20-30 points above the cutoff. We will continue to monitor and consult with his doctors tomorrow.
His stomach does bother him terribly but he continues to nurse relatively well. I have discovered he nurses better if I swaddle him like a new born. And actually, we have found when he gets jittery if we swaddle him it helps to calm him down.
The greatest struggle for him is actually getting the medicine down. Structural issues in his mouth make it impossible for Addison to swallow. He has no lateral tongue movement to move things to the back of his throat. (This is another very long post). That means medicine needs to be given literally one drop at a time. That translates to 30 minutes at a time to give him 10 ML (about 2 teaspoons) of medicine 4 times a day. It really was torture. I considered asking for an injectable form so as to ease the situation for everyone. Our pediatrician recommended an alternative formula which is more concentrated. We started veripred on Friday night. It is such a blessing. It only takes about 10 minutes at a time to take his medicine now.
As far as seizures, we are tentatively optimistic there is some improvement. We have seen a decrease in the number of episodes and the number of seizures in succession in each episode. However, we are not sure if that is because he is so sedate or because the medication is truly working. His neurologist, who checks in with us daily, said she feels good about his progress and that makes us feel good.
She truly believes that we can not only stop the seizures but that Addison can remain seizure free once we wean him off the medications. She also believes that once he is seizure free and we have restored normal brain waves that he will not only regain the ground he has lost but get back on the fast track to mental and physical development.
To all those who have kept a steady line of text, phone calls emails, prayers and meals, thank you for your support and love that have encouraged us through this week. I truly don't know how a person could come through a week like this without the Lord and the love of God's people.
What will Addison's future hold? That still remains to be seen. Our dreams for him have not changed. We pray for this amazing person to reach the great potential God has for him. We pray for him to reach the world in whatever way God has planned. We pray for him to always know that he is surrounded by love greater that we can comprehend. As a dear friend put it so eloquently, Every day we get to hold and love him far outweighs any struggle.
And in the meantime, this is just another bump in the road.