And so it goes

It seems logical to me that in the beginning most parents struggle to understand what has happened to their child since knowing what has caused it opens the possibility that something can be done about it.

With few exceptions that I can think of, the knowledge though usually comes too late to do any good. Certainly defects, caught in time and corrected, can greatly increase the quality of life and often its length.

In Segev's case, the deficits he was born with are both myriad and profound. Born as he was with severe brain damage, that occurred while developing in utero, his body was in essence, programmed to self destruct. His kyphosis, as seen here, has a major impact on his health, particularly his lungs. Several aspects of his autonomic nervous system are damaged allowing, for example, reflux (regurgitation) to occur and which led eventually to permanent lung damage. Some of the insults to his body have been acquired, such as the apparent damage to his phrenic nerve from the implantation of a VNS device to try and combat his permanent array of seizures, which led to paralysis of his diaphragm and subsequent lung collapse, accelerating his deterioration.

The kind of brain wave pattern originally associated with Segev's seizures led to a 'diagnosis' of Ohtahara syndrome. Since it is a syndrome, it is a constellation of common symptoms with more than one cause combined with a widely varying presentation of other, seemingly unrelated symptoms. Knowing the root cause can really only benefit testing future children whom you will either choose to have or abort. Even the genetic causes, a very recent avenue of research in children with Ohtahara,  are poorly understood and account for a very small percentage. Children diagnosed with Ohtahara or any of the other catastrophic epilepsies almost always suffer a host of other problems that represents a kind of wild card when lumped together with the ever growing list of rare diseases.

Many children will move on to different name-sakes of catastrophic epilepsy, like Lennox-gastaut, but the name change has nothing to do with the actual condition of the child and more of a naming game so as to have some kind of moniker to cling to.

There is one thing you could say is common to children with Ohtahara type EEG's and the concomitant health issues so many suffer from; they don't live very long. According to the Ohtahara database children live an average of about two and a half years, though I believe there is a trend towards extending that with better supportive care. The main issue tends to be the lungs which regular readers of this blog will know is a constant issue for Segev and has been from a very early age.

The fickle nature of life with this epileptic categorization can be illustrated by  posts from the Facebook group for Ohtahara yesterday:

"Rough time with Danica, seems her secretions are thick and more apnea. Say a little prayer, even some good vibes sent our way would do good. Hard on Mommy ".
a little later:
" Danica finally breathing clear after a rough night ."

After two hours:
"7/21/2012  -  3/19/2013
Please pray for our family. Heaven has gained an Angel. New wings are flying."

Unfortunately this is an experience that I have seen many times already. Perhaps this places a certain perspective on Segev's life, who can and does inspire some, because he continues to beat the odds every day. This is not a *shrug*, 'who knows' appropriate reaction either, since certain techniques, especially where the lungs are concerned can be shared and have benefited other children.

But Segev is a rare exception and while often the discussion of whether doing everything in your power to prolong a life is a topic fraught with opinions and emotion (as it should be) and we too have arrived at a point where the nature of the struggle has changed in an irrevocable manner, the discussion is far from over. I believe this because in my understanding the topic is opinionated and emotional for the wrong reasons.

Like some, I don't believe the struggle should be about whether 'if' to prolong life but rather 'how'. I don't mean under which circumstances either, I think the endeavor to attempt to prolong life is always justified, as long as we are speaking of 'life', the definition of which is debatable. The how though, is a tricky thing because of one simple fact; we know so little. So naturally we should endeavor to increase our knowledge.

Recently on Ann's blog a doctor tried to pass off this answer as to why a particular medication was having the opposite of the desired effect, "you mean, other than the fact that he is a very sick and complicated kid?" Ann postulated that this might be code for "I don't know", but since it was the same doctor who actually prescribed the med, it might be a smoke screen for "oops!"   

Despite that a mistake can have very serious repercussions, whether in the medical field or driving a formula one race car, we certainly have to acknowledge that mistakes do happen and we have so much more to learn, which is never more clear than when dealing with unknowns such as a rare syndrome your child suffers from. The key here is 'acknowledge'. We need much more open communication, transparency and in that sense Facebook groups or "Grand rounds", like discussed here on Jennifer's blog can be helpful.

The last time I visited Segev's 'go-to'  neurologist (and this has a double meaning because it was coincidentally the last time I'll be visiting him) we talked about Ohtahara and his experience with it and I mentioned the database put together by one of the parents, which is a goldmine of information for someone who wants to gain a better understanding. He had no inclination to have access to it, not surprising since I once asked him if we could work together on a paper about Segev, in order to investigate his quite extraordinary survival, and his response was to say that he had no such interest since Segev's rarity wouldn't advance his career.

In my experience with physicians, and I've written about this previously, this is a typical response. Approach an issue with a set standard and ignore everything that doesn't fit.

Segev doesn't fit. Not in the health system, not the education system, not in the political system where perhaps the power of change lies. "You should get into politics" I was told today in a meeting with the administrator of a school exclusively for children and young adult with special needs, discussing how to try and meet some of Segev's needs, finally after all these years. Again, due to the system not being transparent and requiring you to 'demand your rights', as though it is a given that we know what they are or that, though legally obligated, the various governmental departments such as the ministry of education will actually act on their legal obligations. They don't. Not where my son is concerned. Bill Peace writes extensively on this kind of phenomenon where it concerns disability rights in the USA, so I know these attitudes are not specific to where I live.

I realize I am rambling on, though not actually trying to tie together several separate issues and I promised myself I would make an effort to be more focused.

I am trying to regain my focus because, tired to the bone that I am, I need to if I want to renovate a disjointed life that has me feeling like I am meandering, having gone off of a path that, I know, will sustain me for decades to come.

This focus is rather hard to regain though when, as was the case last night, Segev's condition ripped a hole in any illusions of what is 'here and now'.

At 02.00 in the morning his pulse oximeter sounded its alarm for the umpteenth time that night but, as you know has often been the case, it was abruptly clear his left lung had shut down. Whether I added more oxygen or not he couldn't rise above 85% and I began to implement the various techniques of physical therapy that are needed including 'bagging'.  After a solid hour, with dips down to 77% the problem remained and what was different this time from all previous attempts to restore volume to his lung was that his ribs, both front and back aspects, simply would not respond to the rhythmical pressure I simultaneously applied to both sides. Continued treatment and inhalation therapy finally colluded to partially open the lung but his saturation maxed out at 90%. 

Exhausted, I had a decision to make. This has to do with that conversion to a palliative approach towards my son which, while a process, never the less required a real-time decision: take him to hospital, with all the incumbent dangers, or accept this new standard of well-being, at least for a few more hours till I could regroup.

The crisis had been averted and the hours that followed were much less challenging. More work was required but during the course of the morning he stabilized, albeit once again in a new status quo, at 92% saturation.

And so it goes.