Surgery from a Parent’s Point of View by Meshell LaBaun

You have been told by one of your child’s doctors that surgery is recommended to resolve an issue, what do you do now? In my experience this recommendation was never unexpected. My son was diagnosed with club feet prior to birth, I had weeks of preparation for his birth and knew that he would be placed in casts within a week after hospital discharge and a few months later he would have an outpatient surgery.

Of course life did not happen that perfectly. We had other medical issues which delayed discharge and the outpatient surgery ended up being an overnight, but I still knew it was coming. A few years later I asked his orthopedic surgeon if surgery was necessary again; she asked if we ever suspected a tethered spinal cord. The following week we were scheduled for his third spinal MRI after which, spinal surgery was recommended. We had been researching the pros and cons of spinal surgery for months so, again, it was not a surprise. A few months later we did need foot surgery again, as a mom I knew his feet were not correcting well. A year later I called the orthopedic surgeon to up our appointment, the feet were not right again, I was concerned surgery was the only option…I was right.

You know your child better than any of the doctors so learn to teach the doctors about your child because in many cases they may never see a child like yours again and you have the ability to truly express how great, fantastic and unique your child is. If you think surgery may be an option, inform the doctor, ask their opinion, ask another doctor if you want and then think of all the pros and cons regarding the surgery and make an informed decision. If a doctor does mention surgery and you are not prepared for this option to let them know you would like more information, a second opinion or at least some time to think about it. Unless the surgery is an emergency you have the right to take some time to prepare yourself and your child.

Typically you are given a few weeks’ notice before the surgery in planned, I tend to call the doctor to speed up scheduling. Take this time to familiarize yourself and your child to the hospital and the expectations of the day. My son is still young and not as aware as an older child but he does have an older brother so I take the time to explain to my other child what his little brother will have happen, how his daily schedule may be changed and why we are doing surgery. Let family know and if you want their assistance see who may be able to help. For our family we notify my younger son’s daycare staff, my older son’s teacher (to give her warning in advance for anxious behavior on his part), our places of employment and family. We ask the doctor when he will be clear for daycare so my husband and I can take the appropriate amount of time off work. We consider and ask advice on how to handle issues such as bathing, riding in a car seat, sitting chairs, sleeping to ensure that we are prepared to handle post-surgery care (which involves casts for us a lot of the time). See if it is possible to preregister for surgery by either calling the hospital or online, this can save you time the morning of the surgery. Make a list of things to take to the hospital both for yourself and for your child and ensure that the hospital does not have any restrictions. I am packing snacks, drinks and something to read for myself and books, toys, a sippy cup and snacks for my son. Don’t forget to pack any medications your child takes.

The night before surgery make note of when you are to stop giving your child food as well as when you have to hold off on clear liquids.   If you have to travel to a destination you are not familiar with review the path and give yourself plenty of time to arrive to the hospital. You may also review the hospital’s website for information on what to expect, some children’s hospitals have videos the kids can watch so they know what to expect that day.   Ensure your bag is packed and you have medications, insurance information and identification for your visit. Be as calm as you can to help reduce your child’s anxiety and everyone should get a good night sleep.

When you arrive at the hospital you may need to check in and finish registration, this is when you will supply insurance information and your identification and sign documents. Your child will be given an identification tag and you will have a choice as to where it goes, my son loves to chew anything so if possible we had it placed on his legs, if he was going to receive leg casts of course we had it go on his arm. Any issues with billing or parking should be discussed at this point in your visit. Next you may be directed to surgical waiting, or you may go directly here to check in until the staff is ready to take you and your child back to pre-op, there may be a limit to the number of visitors that go back so check with hospital staff before you arrive with family in tow. In pre-op is where you will meet anesthesiologist, nurses, doctors, etc , who are there to help you and your child as well as prepare your child for surgery.

If it is a teaching hospital, like the one we go to, you will typically meet two of each type of staff. The resident comes in first then the attending staff later. Help the hospital staff by informing them of what makes your child unique, they will ask a lot of history questions and do your best to answer questions and if a procedure was done in the hospital prior ensure they know to review prior notes. Items I have brought to the attention of staff are:

  • Ability for my son to get things off his hands (important for ID bracelets and IV lines)
  • Past difficulties with anesthesia
  • Ability to use a cup, sippy cup, or bottle and what drinks he dislikes (this is important for after surgery)
  • My son’s personality around strangers

 

As I said before you know your child the best so think about what is most important for someone to know about your child when you are not around and let them know how to best care for your child while they are in the hospital staffs care.

After your child goes into the operating room you will be directed to return to the waiting area and be told not to leave. Some people bring most of their family, others have just a spouse or perhaps another child, some are like me and sit alone. Each person knows how they can best deal with the situation and how they are most comfortable. I typically bring something to read and a few snacks so I don’t need to even run to the vending machine. If you do need to leave the room and you are alone inform a staff member that you are leaving and insure they have your child’s name and yours written down, if you have a cell phone give them your cell phone number so in the event that the doctor needs to speak to you they can reach you even in the restroom. If you wish updates on your child’s progress you may be able to ask the staff to check on it, sometimes a message will be given to you periodically, especially if it is a long surgery.

When your child is out of surgery you will be notified and will have an opportunity to speak to the doctor. Sometimes this is a quick chat in the waiting area, sometimes it is over the phone, other times you are escorted to a conference room. These are doctor preferences and do not mean the conversation is bad or good news and I am sure if you requested a personal conference room the doctor would grant that request. If surgery is outpatient, you will be able to go back to recovery once your child has awakened and had something to drink to sit with them while the anesthesia wears off. If your child’s surgery requires an overnight stay you may be given the room number and be asked to proceed to the room and your child will meet you there shortly. Remember that you are on hospital time and shortly means as soon as we feel your child is well enough to be moved and could be an hour or more.

If you are having same day surgery, stay as long as you feel is necessary in the recovery room. Ask nurses as many questions as you can think of to ensure that you will know what to expect at home and when a call to the hospital or your doctor is warranted. For an overnight stay understand that you will most likely get little to no sleep, my son is notorious for getting wires moved and causing his monitors to beep hourly or more frequently. Know when shift changes are so you can ensure you are in the room to meet the next nurse, ask if they have any questions as many nurses are curious about what brought you to the hospital and what you hope to gain from the surgery. Know where to get food for yourself and if you have to leave your child alone stop by the nurses’ station to let them know you will be back shortly. Know your child’s medications and their individual schedules, some like antibiotics require strict doses, others such as pain medications typically are as needed at least so many hours apart. If you don’t think your child needs pain medicine on schedule ask if it can be delayed. If you feel your child is not being helped by the pain medicine, let your nurse know so they can ask about alternatives. You know your child and how they show pain.

When you come home with your child make any adaptations necessary, ensure you have their medication on hand and know the dose schedule and make any follow up appointments with their doctor. Recovery does not end when you leave the hospital but you may be surprised at how quickly your child returns to their old self.

 

Submitted by: Meshell LaBaun

 

Perspectives for Treatment of Chromosome Disorders

PERSPECTIVES FOR TREATMENT OF CHROMOSOMAL DISORDERS

Chromosomal disorders are conditions where, as a result of deletions or
duplications of some chromosomal segments, the organism experiences the excess or absence of a significant number of genes. Manifestations of chromosomal disorders include both morphological defects caused by the abnormal action of genes during embryonal development and functional abnormalities (seizures, hypotonia, aggression, hyperactivity, sleep disturbances, etc.) caused by the constant abnormal action of genes. When we use the term “treatment of chromosomal disorders” we talk about attempts to alleviate functional abnormalities and give patients a better chance to live independently. It is obvious, however, that morphological defects which occur during embryonal development cannot be restored by any drugs.

The existing attempts for treatment of patients with chromosomal
abnormalities may be subdivided into several groups. The potentially most fundamental methods have a goal to restore a normal karyotype or inactivate the action of excessive genes. One strategy involves inactivation of one of the chromosomes 21 in a trisomic patient with Down syndrome. One of the human genes – gene XIST –
inactivates one of X-chromosomes in females. The XIST gene prevents
transcription of the genes on the X-chromosome. If this gene is inserted into one of chromosomes 21 in a patient with Down syndrome, this chromosome will became inactivated, restoring the normal “disomic” condition. Currently the experiments with inactivation of excessive chromosomes are in the “embryonal” stage; if these tests provide good results in laboratory animals, this method will be tested with clinical trials. Although currently XIST-strategy is studied only for
cells with trisomy 21, the same method may be promising for other trisomies as well.

Some types of chromosomal pathology (ring chromosomes, additional
markers, dicentric chromosomes) are relatively unstable. Most patients with these abnormalities have both a clone with an abnormal chromosome and a normal clone. Generation of pluripotent stem cells from the skin cells of a patient with ring chromosome 17 has shown that reprogrammed cells lost the abnormal chromosome 17 and duplicated the wild-cell normal homologue. If this is true for other ring chromosomes and other forms of “unstable” pathology, it will provide an
opportunity to use cellular reprogramming as a way of therapy for certain chromosomal disorders.

A strategy of reprogramming as well as XIST-strategy, however, will (or
may) cause uniparental disomy – a condition when both homologues chromosomes are identical (i.e. two copies of the same maternal or paternal chromosome). If this chromosome carries an autosomal-recessive gene, the patient (or reprogrammed cells of the patient) may become homozygous for this gene.

Other methods for treatment of chromosomal pathology seem to be not so fundamental by nature but more achievable. Down syndrome for instance is a condition where several attempts for treatment of patients with this pathology have been made.

It is well known that the size of the cerebellum in persons with trisomy 21 is significantly less than in persons with a normal karyotype. As a result there is a considerable impairment of cerebellar function in patients with Down syndrome. In the experiments with a specific line of mice Ts65Dn (widely used as an animal model of Down syndrome) the newborn animals who received a stimulation by “Sonic hedgehog” – a growth factor involved in different aspects of development -show both an increase of the size of cerebellum and an improvement of its function. Mice “treated” by “Sonic hedgehog” show an ability to learn their way around a maze – an indicator of function of learning and memory. The idea of early intervention seems very plausible, but there is still a long way to go between experiments with rodents and the clinical usage of “Sonic hedgehog” (or other growth factors) in treatment of Down syndrome.

Experiments with the mice Ts65Dn show that these animals demonstrated excessive inhibitory brain activity. Release of this inhibitory effect may improve cognitive function. One way to reduce this inhibitory effect is to block the activity of GABA – the primary inhibitory neurotransmitter. There are experiments where
Ts65Dn mice were chronically treated with a negative allosteric modulator of GABA RO4938581.

It has been shown that this treatment improves the functional and neuromorphological deficit in a mouse model of Down syndrome. Currently there are some clinical trials ongoing to test this kind of treatment in adult patients with Down syndrome.

An examination of the brains in Down syndrome patients has shown a remarkable similarity between these brains and those in persons with
Alzheimer syndrome. Most Down syndrome patients develop Alzheimer-like plaques and dementia in their 40s. Persons with Down syndrome have high levels of myoinositol – a chemical related to cognitive impairment and involved in formation of plaques in the brain. There is a trial to treat patients with Down syndrome by scyllo-inositol (ELND005) – a drug originally synthesized to break up amyloid plaques in the brains of patients with Alzheimer’s syndrome. The current trial hopes to demonstrate the efficacy of this method for treatment of Down syndrome patients.

There are some publications describing possibility of “pathogenetic”
treatment in other conditions. For example many manifestations of Phelan-McDermid syndrome (deletion of 22q13.3) are caused by the loss of SHANK3 gene, which resides in this area. Neurons of Phelan-McDermid syndrome patients have reduced SHANK3 expression and defects in excitatory, but not inhibitory, synaptic transmission. Treatment of the neurons with insulin-like growth factor I (IGF1) corrects the excitatory function of these cells and shows the pathway to
correct intellectual disability and speech impairment in patients with this disorder.

The more common and more standard ways for treating chromosomal
disorders are related to the replacement of products which are not synthesized in a patient or synthesized at an unusually low level. It is similar to the usage of insulin in patients with diabetes. For example, patients with Klinefelter syndrome have very low levels of testosterone. The administration of testosterone in adolescents with Klinefelter syndrome shows good clinical efficacy in 95% of patients.
Patients with distal deletions of the long arm of chromosome 15 usually reveal significant growth delay, because this deletion involves the gene responsible for synthesis of the growth hormone. The administration of growth hormone significantly improves the growth in these patients. Treatment by growth hormone may be beneficial also for other patients with other chromosomal pathologies experiencing growth delay.

Common drugs for treatment of attention deficit hyperactivity disorder or seizures may be used also for the treatment of these manifestations in patients with chromosomal pathology, although clinical results may vary even in persons with the same chromosomal imbalance.

Dr. Iosif Lurie
Medical Geneticist
CDO Consulting Medical Advisor