October 17, 2014

Addison Updates

One downside to taking a nice long vacation is eventually you have to pay the piper.  It takes three weeks to get all nice and relaxed and forget you have a bunch of trials at home and 24 hours after returning home you are right back where you started.  In this case we returned home to two full weeks of appointments for checkups, tests and evaluations.  The downside is we need another vacation.  The upside is mostly we've gotten good news for a much welcomed change.  I know those who have been waiting for news will be completely shocked I am getting you an update so quickly.  I am kind of shocked, too.  We appreciate your love and concern for Addison and for our family.  We also appreciate the willingness of friends and neighbors to jump in and help with the other kids appointments when things got shuffled around at the last minute.  I think I am pretty good at organizing, but I have yet to figure out how to be in two places at once!

Orthopedic Update

Tuesday began with a trip to Children's Hospital where we saw Elisabeth's doctor as well as Addison's orthopedic and head neurologist. 

Over the course of prednisone treatment Addison's hypotonia became far worse.  He eventually lost the ability to sit up on his own and lost all movement he had gained over the previous 15 months including scooting and rolling over.  We were very happy he started rolling over on his own just a few days after completing the steroid wean.  As of today he is also doing a very good job of sitting and he is beginning to make efforts to reach for toys and move across the floor.  Albeit mostly in a circle or backwards.  But you have to start somewhere. 

After starting prednisone Addison's spine began to protrude considerably.  In addition to spine issues common for people with T21, long term and high dose use of prednisone can cause bone weakness, spine compression and fractures.

After an evaluation with Dr. O and x-rays (in a really cool x-ray lab) there did not appear to be any compression or fractures causing the issues with Addison's spine.  It is Dr. O's opinion therefor that the protrusions in his spine at this point are caused by the severe degree of hypotonia and as his body continues to recover from the steroids and we work on PT to build his muscles back up we will see also see his spine recover.  

Neurology Update

Tuesday we were very eager to meet with Addison's neurologist.  We were able to report he had been 15 days without a seizure.  We requested Addison not begin any medication at this time while we wait and see what develops from his myoclonic seizures. 

Dr. R was very surprised Addison was not having seizures.  He agreed without reservation it would be acceptable to hold off beginning treatment right now.  On examination he felt Addison was looking good, showed much improvement from his last exam and showed nothing concerning in regards to physical symptoms related to seizures.  He did caution in his practice he has only had one patient who had Infantile Seizures followed by myoclonic seizures who remained seizure free.  In the case of that child he said it was questionable whether he was having myoclonic seizures or modified infantile spasms.  In Addison's case he said there was definitive activity on his last EEG to know for certain he was having myoclonic seizures as of September 17th.  This means there is a very high likelihood Addison will continue to have seizures.  However, he also said every single day Addison goes without a seizure increases the chances of him remaining seizure free. 

As of October 15th Addison has been seizure free for 17 days!!! 

Because of the timing at the onset of myoclonic seizures, Dr. R does not feel they are a rebound from the Infantile Seizures, Hypsarrhythmia or prednisone. 

Dr. R did make mention there was fluid on Addison's brain in the MRI back in August.  This could be caused by the prednisone.  He will have another MRI next summer to monitor this and the brain atrophy.  While Dr. R had reservations neither Allen nor I are particularly concerned.  There is nothing we could have done differently.  God will take care of the rest. 

In the meantime, I think it is safe to say, on the seizure front Addison is doing amazing!!!  So well, in fact, Dr. R said unless he starts having seizures again, we don't need to come back for 3 months.  And if he continues to not have seizures then we won't need to return for 6 months. 

While we are grateful for all Addison's neurology team has, is and will continue to do, we are most grateful for the intercession of the faithful prayer warriors and the healing of our great physician. 

Ophthalmology Update

Next up was Addison's Ophthalmology checkup.  Dr. P reported no further decline in regards to Addison's astigmatism or nearsightedness.  His eyes continue to remain balanced, as well.  She was concerned about the crazy head tilting thing he has been doing for a while.  In light of his seizures, we have had concerns about this as well.  However, after closely studying it the neurologist does not feel it a neurological issue.  And, after carefully studying his eyes,  the ophthalmologist does not feel it is related to his vision.  She advised us to take the issue up with his Physical Therapist for further evaluation.
 Pulmonology Update

Way back in the far recesses of our life, before seizures, Addison's geneticist was concerned about episodes of cyanosis.  He has had spells of turning blue since he was born.  Initially, this became worse during feedings and was thought to be related to his ASD.  After meeting with his cardiologist, Dr. M believed this was in no way related to the hole in his heart.  He also believed it would pass as Addison grew. 

And, after a time, we didn't see any episodes for a while.  And then when he was six months old he had a severe spell while napping on his back in the buggy.  When we woke him up he was the same shade as Allen's Levis.  It took the remainder of the day for his color to return to normal.  We were seriously concerned at the time. However, it was several weeks before we returned to Maryland and met with his geneticist.  At that time he had no more episodes so that was that. 

Until April.  The week he turned one, Addison ran a very high fever for a week with no other symptoms.  Except, he had two more episodes where he turned blue and took a long time to recover.  We mentioned this during his routine check with the pediatrician.  She felt it was related to the fever.  He was still feverish the next day when he was scheduled for his regular checkup with the geneticist.  She did not feel it was related to the fever and was concerned it may be related to one of several pulmonary issues common in babies with DS.  At that time she referred us to the pulmonologist.

But then the seizures started and this issue took a far back burner to hyppsarrhythmia.  In the meantime Addison has been under sedation three times for surgery and tests.  Each time he had to have oxygen because he stops breathing briefly in his sleep.  And so we found ourselves meeting with Dr. Z.  Who is simply amazing.  The funny thing is Addison is doing so well we both went into this appointment thinking it was going to be routine and a waste of time.

As we already knew, Dr. Z pointed out how very tiny his airways are.  She feels Addison's cyanosis is concerning.  After examination she believes it is caused by sleep apnea or by the interrupted brain activity from seizures.  When looking back at his history, we believe the hyppsarrhythmia probably began at the same time he had the severe spell in his buggy last October.  Furthermore, he has not had an episode in the last few weeks since the seizures stopped, which would lend itself to the seizure theory.  We could wait and see.  But Dr. Z feels, because of the length of time it takes to complete testing and start treatment... and the degree of his cyanosis... and because he has had a number of episodes upon waking, it would be more prudent to do a sleep study now to rule out sleep apnea.  People with T21 are at very high risk for sleep apnea anyway.  Add to that his impossibly small airways and his degree of hypotonia and that puts him at a still greater risk.  With all that said, the doctor feels it would be a good idea to have a baseline study done now.

We walk away from this appointment once again considering perspective.  Addison not breathing in his sleep could be a rather scary prospect.  But when you consider it in the light of where he has just come from it doesn't see so very frightening at all.  Although, the prospect of yet another night in the hospital is not so very fun.

Two of our appointments were rescheduled so our last stop this week was a trip to the pediatrician for flu shots.  It has definitely been a busy week when I consider we were lying on the beach a mere 7 days ago.  And yet, with so many good reports, it has been a refreshing week, in an odd sort of way.  Thanks for your emails, texts, letters, calls and constant prayers.  It is the Lord's care, the prayers of His people and the love of those around us which have brought about Addison's great success.

And so as an expression of my undying gratitude, I will leave you with this completely adorable video of Addison learning to blow kisses.


  1. Oh my goodness, he is so adorable! Love the glasses!

  2. Thank you for the great update. It is good to hear that his condition has improved so much in the last few weeks. We're praying he continues along this path! What an adorable video! Thank you for sharing

  3. That's a lot to keep straight. Praying for you all.