Thursday, March 12, 2015

A life worth living


In the past, I sent the following to the child-neuro listserve: 
 
I saw a 1.7 kg 36 weeks gestation female neonate, now 3 weeks of age, with Wolf-Hirschhorn syndrome. She was alert and energetic. After her diagnosis was established at 2 weeks of age, her parents, having received appropriate information regarding Wolf-Hirschhorn syndrome, made the decision that a life with Wolf-Hirschhorn syndrome is not a life worth living.  After ethics consultation, a decision has been made to allow her to feed orally as much as she can, but to do no more. To date, she feeds modestly, but does not experience overt dysphagia. Presumably, oral feeding will be inadequate and inanition will begin with palliative pomp and circumstance. I am revulsed by this situation.
 
My consultation note indicates, "As noted above, the parents have decided regarding their daughter, that a life with Wolf-Hirchhorn syndrome is not a life worth living (slightly edited)."
 
More recently, the parents have considered further pediatric neurology evaluation for their daughter.  Mother requested that this be by a different provider.

4 comments:

  1. I have 3 active and 1 recently graduated patients, 15½ to 21½ years, with Wolf-Hirschhorn syndrome. One of these, currently 17 ½ years, had a renal transplant and then subsequently developed lymphoma, which seems to have been successfully treated. That patient lives with an adoptive family. I am aware of 5-6 others, either my patients in the remote past or patients of colleagues. I am aware of no patient with Wolf-Hirschhorn who died in childhood. Typically, these patients are ambulatory but non-verbal (I do have one patient who does speak), almost universally requiring gastrostomy nutrition. Many have epilepsy, which is either well controlled or reasonably controlled with medication.

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  2. I am acquiring a new patient with Wolf-Hirschhorn syndrome. This is a very petite 2 month old who is currently being evaluated for paroxysmal behaviors. Wolf-Hirschhorn was diagnosed prenatally. She has a VSD and cleft palate. Feedings have been by gavage. Gastrostomy placement has been discussed.

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  3. An almost 19 year old woman with Wolf-Hirschhorn syndrome, whom I have followed for 11 1/2 years, just graduated from high school with cap and gown, as I understand it, and, accordingly, from my practice, as well. With modest doses of alprazolam, clonidine and risperidone her sleeping is described as "very good". She feeds orally. She is non-verbal. Her behavior is rather frenetic.

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  4. The proband here managed to survive with oral feeding. She is now greater than a year of age. She receives levetiracetam. Seizures are not a major problem for her. She has experienced relatively frequent respiratory infections.

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