My swan graduate- the diagnosis

No more testing. No more waiting. 

As of today Nate is no longer a SWAN. He has a syndrome with a name -ATRX - x linked alpha thalassemia mental retardation syndrome. 

It's a rare syndrome. I'm still trying to find things out about it but from what I can gather there are about 200 recorded cases worldwide.

 I have a graduate swan.

I'm not sure how I feel. I felt suitably nurtured all cocooned in the undiagnosed community. Now I'm left wondering where we belong. I'm finding this situation quite frightening. It's like venturing into the unknown again without anyone to hold my hand. It means I have to take notice of the facts of ATRX, whereas before I could happily bury my head in the sand and say "well we don't know, that might not happen". It seems that many children with ATRX die before their 5th birthday- causes seem to aspiration and pneumonia, complications of intestinal problems, and the unknown. Nothing new there really. However there are a few adults with ATRX in their 30s. Nate seems to be at the severe end of the syndrome spectrum but the positives are that many children eventually walk and some manage a few words. I hope that the professionals involved with Nate will now be better equipped to help us give him the quality of life he deserves. It has been difficult for all concerned to diagnose and treat Nate's many clinical problems, I can almost hear the proverbial sigh of relief heading this way from the hospitals involved with him. Saying that some teams involved have been outstanding and totally unfazed by his prior "undiagnosed" status. Hopefully the diagnosis will explain some of Nate's issues and lead to successful treatment with medication for his often confusing and distressing symptoms. 

So this means no more testing for Nate.  No more waiting.... Or does it? 

The diagnosis has a sting in its tail and comes with deeper implications. 

Being an x linked syndrome means that it came from me unless it was a spontaneous " de novo" mutation in him, with Nate getting his healthy Y chromosome from his dad. If it came from me there is a chance that our daughter may carry the mutation so the next stage is finding the mutation in the ATRX gene present in Nate, and then testing family members for it. This will allow everyone concerned to make informed choices in the future. 

The most frustrating thing about all of this is that "probable alpha thalassemia trait- clinically insignificant" is listed on Nate's newborn screening. I was told it didn't mean anything. And yet an alpha thalassemia trait, hypotonia, and unusual factial features ( all of which Nate had at birth) are the key parts of the syndrome. Actually "frustrating" is an understatement.

I have eaten much cake today. There is wine in the fridge. That's all I have to say. 

BBC online news article on Nate

http://m.bbc.co.uk/news/health-25978111

Sleep

Sleep. It used to be so easy. 

I have vivid recollections being a (lazy) teenager sleeping until lunch time, an adult with a job sleeping off a hang over all morning. Weekends were for sleeping. 

Sleep sleep sleepity sleep. 

Babies

This changed when I became a mother for the first time. I thought I understood sleep deprivation. Oh the indignation "I can't function on 3 hrs sleep!" There were nights of screaming and feeding. I remember crying rocking a 1 yo with an ear infection in the early hours of the morning thinking she's got to give in soon. And she did.... eventually. I remember thinking "I can't cope without sleep when will this become easier?", and, inevitably, it did. From about the age of 4 months thea has been a decent sleeper ( unless ill or teething) and even as a toddler we just took turns getting up super early on a morning as required. As a parent you commiserate with new parents and bond over lack of sleep safe in the unspoken acknowledgement that things will improve. It's a phase you have to battle on through pumped up on caffiene and red bull.

But what if sleep doesn't return to your life?

After Nate's birth i spent day and night expressing milk in a feeble attempt to "help" him. It gave me something to focus on while we felt completely helpless. 

When we eventually brought him home he slept far too much due to blood carbon dioxide levels ( we didn't know that at the time) but we had to be awake several times during the night to ng feed him. 

As time went on nights became full of rubbish sats, suctioning, feeds, beeping machines and re positioning. 

There's the nights he screams on and off all night and we don't know why. Earache? tummy ache? Uti? Bad dream?  Muscle pains? Sometimes we know and can treat the pain, other times we fumble around in the dark trying in vain to comfort him from the unknown. 

Some nights Nate doesn't sleep at all. I'm not exaggerating. He doesn't even close his eyes. He becomes Nate destroyer of probes. On these nights at some point we pass out and get about an 1hr of sleep in. It's best not to attempt conversation with us after one of these nights. 

Then there's the times he's has horrible seizure activity during the day and is flat out asleep out at night. We have the opportunity to sleep but are stressed and anxious. 

Oh and there's the nights Nate thrashes about ( possible seizurey) and breaks probes and sometimes sats monitors. 

Good nights are those without de sats. Where Nate sleeps for a few hrs and then wakes for a bit, but doesn't break any sats probes, doesn't alarm too much and at least some sleep can be clawed back. This is manageable. A 3hr block of uninterrupted sleep means we can function and hold a civilised conversation with you. I suppose this is our aim for every night. We don't expect him to ever sleep all night every night just enough to keep us sane and functioning.

Short breaks and respite are vital for our sanity

So we sleep 3 nights a month when Nate goes to respite. We have just introduced Nate to melatonin in a bid to help regulate his sleep. The drs don't think this will work but hey ho its worth a try. They were quick to point out melatonin is a hormone, it is not a sedative. "We don't want to go down that road" they said. Sedation could cause breathing problems. As he's on overnight ventilation I'm not sure how relevant that comment is. I also reckon if they'd looked after Nate overnight for a few months they would be a tad more keen to get to the bottom of his sleep issues and discomfort.

We thought introducing an overnight feed would help. It probably has a bit, but not enough. The problem with the "sleep situation" is that i can't see any reason for it to improve. Nate's neurological problems mean he probably needs less sleep than we do. His distress in the night could be pain or seizures but without knowing for definite we can't help him. I am conscious that this is all a bit me me me but it's about Nate too. None of this can be pleasant for him. 

I have sleep envy.