31 March: Surgery scheduled. Pressure equalising tube surgery for ears (to correct fluid build up) and L&B Scope for Trach http://www.entusa.com/ear_tubes.htm
A much anticipated 6hr appointment with the Cranial Facial Clinic today. This is the team responsible for a multidisciplinary approach to evaluating and treating kids with a complicated diagnosis. "The implications of a craniofacial disorder on a child’s life are far-reaching. They encompass basic health and functioning, family and social relationships, quality of life, and adaptation in each stage of growth. "
Sometimes we bear the weight of water like a deep sea diver and the response is to be pulled ever deeper into an abyss, or like today, to laugh at the complexity. Throw anymore at us and the diving suit's already so heavy, it could hardly make a difference.
So nurse Christine and I do the rounds of the Cranial Facial panel: Plastic Surgery, Psychology, Genetics, Speech, Audiology, Otolaryngology (ENT), Dentistry.
There's a little space that sits on the bridge of Reuben's nose, a slope that unites his beautiful eyes and which I declare is my favourite place to kiss, one of my favourite places on earth. And within minutes, Dr Hammoudeh designates it a CHARGE zone, a webbing that can easily be fixed with plastic surgery. Will I look at that same place again with such sentimental innocence? I know his delightful face so well and yet it's like a secret someone forget to mention before.
Medial canthus webbing between eyes - as above, will undergo a canthoplexy surgery to remove the widened skin which has the effect (apparently) of making his nose look wider than it is. We'll return in 3 months to put him on the surgical schedule. I think we need to look into this more and make sure it's the right thing to do although as Dr H said, it'll remove the "syndromatic look" Reuben has. Blissfully unaware mama.
Asian eye the crease between the ligament and muscle being amiss can be corrected through cosmetic surgery. Given the delicate nature of the skin at present, this surgery will be for a later date but will help in the long run not only aesthetically, but by removing the irritation of his lashes on his cornea. The surgery is called a blepharoplasty or eye lift! Now he really will look like a Los Angelino.
Microtia - surgery will be when Reuben is 4/5 years old to reshape his eyes by bilaterally restoring the heelix cartillage. Reuben has mild microtia. I remember when he was delivered thinking, Look at his little pixie's ear. Little did I know. The effect will be that from behind too, his ears will look symmetrical.
Nerve transplant - I am aghast at the prospect of a nerve transplant in the future, undertaken via a traditional jawline incision which could potentially restore Reuben's smile to the right side of his face. Rocket science indeed. Reuben has only mild facial paralysis to his 7th cranial nerve which means that he can still do a full pout or raspberry blow. This paralysis is one of the key features of CHARGE although not present in all kids and is not just aesthetic, but of course relates to speech, feeding and all oral motor development so is pretty significant.
Craniosynostosis - this is rather frightening. A child's brain undergoes rapid growth in the first year of life and to allow for this rapid expansion, the skull is made up of a number of bones rather than a single bone. They are separated by structures called sutures (expansion joints) that allow the brain to grow without being restricted. Craniosynostosis occurs when the sutures either fuse or are unable to expand. Dr H saw very mild temporal narrowing, not enough to warrant a CAT scan, but enough to put Reuben on the watchlist for what I would imagine would be an awful surgery.
ENT assess Reuben's ears and discover fluid which doesn't appear to be causing him distress but would certainly be painful at altitude or flying which is our intention in May. Apparently it was noted in August too. How did I miss that??? Reuben's booked for a ventilation/pressure equalising ear tube placement surgery on 31 March along with the much awaited L&B scope. That will determine the extent to which his throat, traumatised by 10 weeks of intubation and leading to the trach, has healed (we kept saying how do you know unless you look before the planned L&B scope in October although the reply is always Experience tells us and Knowledge isn't enough of a reason for anaesthesia). But given he'll need anaesthesia for the ear tube surgery anyway that gives us the opportunity to scope his throat too. Bingo. Communication impairment is my biggest gripe with the trach as the maintenance is pretty easy given Reuben coughs up most of his secretions in the day by himself although needs a helping hand at night when lying flat. Even our recent at first terrified sisters found this to be the case. There is some fibrous material around the trach stoma but no plans to laser as it's not affecting weekly trach placement. Must catch up with MK and other mums re their kiddos' tube placements, incidentally, the most common surgical procedure on kids.
Discuss Reuben's responses with his BAHA hearing aid and his increasing ability to determine the direction of sound. I still want to get to the bottom of his mixed loss, conductive (left) and sensorneural (right) and whether the tubes may make a difference at all to his hearing abilities. Making great hearing strides though though sadly no ABR hearing test today which I'd hoped for. Must wait 6m months.
I'm disheartened to hear that even with the trach, Reuben should be making basic sounds like "p" and "d". We discuss the placement of a Passay Muir valve which will direct airflow from his trach to his mouth to allow him to vocalise. He'll need ENT clearance first so I just ask the pathologist to speak to Jiffy his trach nurse, and have to show an ability to manage his secretions. Reuben scores a borderline average on his cognitive abilities (fine with that as determined in his recent Occupational Therapy Assesments), but scores lower on his receptive (currently at 6 months) and expressive language skills (very low). I'm disheartened too to hear that although ASL (American Sign Language) will be a predominant mode of communication for him, being such an expressive language, how does that work when you can't express with one side of your face? How unbearably cruel hey? But I do show off Reuben's little tricks, like "Where's mama's nose?" which he points happily too although I'm encouraged by the pathologist to be a little more functional in my education! Reuben is recommended for Infant Stimulation to add to his current PT and OT and I walk away with a referral letter for the same. This is all about playing and having fun and will fine tune his fine motor skills, nesting, piling, knocking over etc. The ST did say that Reuben's communication difficulties are likely structural rather than neurological, ie the trach, the uncertainties of CHARGE and his 5m hospitalisation have held him back but he can still catch up. The trach of course interfers with so many other things too like taste and having the valve fitted should make a difference in terms of his secretions and restoration of some senses to his mouth.
Dentisty & Orthodontics
Reuben's 6 innocent teeth are examined and I'm counselled on the potential problems associated with low oral feeding and drinking, calculus leading to gum damage which normally only occurs in adults but which is also prevalent in tube-fed kids.
I think the Dr is surprised I'm up to scratch on my CHD7s, mosaicism and all yet we have a long meeting about genetics, risk of reoccurence etc all the same.
I'm interested in the behavioural aspects of CHARGE as relates to Reuben. His personality is one of immense patience (6hrs in clinic without fuss) and calm, yet he thoroughly enjoys the excitement of a swing or a good tickle. He's very tactile and enjoys eye contact which I'm hoping will rule out autism. Wait and see. He is a wonderfully kind and sweet boy. We often say, He's no trouble despite his medical complexity. I truly, sincerely, could not have dreamed of a sweeter natured son. Thanking God on Good Friday that he's so easy.
Six hours later, we leave the hospital with an imminent shopping list of surgeries for Reuben.
- ear tubes
- microtia reconstruction
- canthoplexy surgery
- nerve transplant
to add to the already reviewed, descension of testes following ultrasound, procedures like the L&B and new gear like the passey muir speech valve! I'm surprised if anyone's reading this, but if you are, imagine living in it?
I'm physically and mentally exhausted when Jason picks us up. Writing this now I can't believe the complexity of CHARGE as relates to Reuben.