I am a pediatric home health nurse who will soon be caring for a client with Menkes Disease. Although I know the basics about the illness, I would like to know more.
I believe the more information a health care giver has, the better care he/she is able to deliver. And I really want to give the best care to this boy and his family.
If anyone can offer insights or advice, I would appreciate it.
Thank you so much for your reply.
As I mentioned in my post, I am a pediatric home care nurse. I work in Phoenix and its surrounding cities in Arizona.
Unfortunately, I am unable to relay personal health information about clients for whom I care, (Federal HIPAA law); however, if you have general questions about what I’ve seen in Menke’s, I will be happy to answer them.
One thing in which I was interested is how to support the family, what they may need from me besides offering care with kindness, gentleness, and warmth for their child.
Also, any ways to soothe the child when in distress, (besides the presence and voices of family members,) would be helpful. For example, does soft music work, gentle massage of skin, reading, efflurage, or are these things too stimulating?
Again, thank you for your reply. And as I said, I can answer general questions about what I observed with this disease, but none about my client. I look forward to hearing from you.
Terri
Hi Terri
Thanks for the feedback.
Our son Stephen is 15 months now, he was diagnosed at 6 months with Menkes.
He has never really developed, is very floppy, and is unable to sit, keep
his head up, or even to roll over. His hearing is very good, so he can
associate voice with a person, but we doubt that he is able to see very
much, maybe only movement. He has developed two small bottom teeth and we
think that he is getting a tooth in his upper gums. Stephen has seizure
that present in the form of “jerks” as we call them. His arms move up
towards his head as the contraction happens, he holds it there fore about a
2 seconds and then they come down again. At the same time you can see his
eyes rolling back. He has about 10 of these an hour and for the most part
they do not seem to affect him. We do not have on copper shots as they are
not available in South Africa. His is on Epilum (Valproate), Sabril and
Topamax to try and control the seizures. He also suffers from quite a lot
of saliva in his throat and lungs, so we use a really good product called
Losec Mups which has really helped to dry out the saliva in his throat.
Obviously with him lying so much the saliva can really cause problems for
his breathing. He feeds relatively well, eating porridge three times a day
and drinks lots of powdered milk and juice. He used to get very bad crying
and breath holding fits. They are not as bad now, but when he does have
them we use a drug called Rivatrol to relax him. He was also having
problems with his bowel movements, that they were often very hard. We have
started using a little bran in his food which has helped this situation
tremendously.
To stimulate him, we find that he really enjoys being exercised. He lies on
his back and we “run” his legs quite vigorously. We then do cross over’s
with his legs. Punch with his arms, roll him onto his side and massage his
back. He really enjoys this time and smiles allot. We do this everyday for
about 1-2 hours. Even when he does not smile, we often can judge his mood
from his eyes, relaxed hands and face. He also really enjoys his bath time
and we try and do limited exercises with him the bath which he also enjoys.
Other than that we try and sit supporting him as much as we can in an
upright position, either in his pram or holding him. A physiotherapist
comes twice a week to exercise him, and we also have an occupational
therapist who comes occasionally to do facial massage to help him with his
tongue movements. (for feeding)
Right now, our real struggle, is sleeping patterns. This I understand is
common with Menkes children, in that there is no routine. He sometimes
sleeps a lot during the day and then not at night. This is tiring and there
appears to be no real solution. We are cautious of using more drugs like
Valium to help with the sleep as I think that he just gets more drugged out
the next day so you kind of compound the problem. John in UK says that he
is now using a drug called Melatonin for his son which helps him get through
the night and still being refreshed the next day. We are going to discuss
this with our Pead.
From our side, we would really like to try using more alternative medicines
to help with the situation. We have been using Glyconutrients with Stephen,
but have not really seem big improvements. I have asked the forum before if
anyone is using herbs or the like to try and control some of the symptoms,
but with have not had many replies.
Anyway, hope this helps a bit.
Take care
James
Hi:
My son Christian is 2 yrs 3mo. old, diagnosed when he was 10 mo. old, he is like your son no sitting, no rolling, no head control, he’s on PT, OT, ST therapies. No seizures, he is happy most of the time and his crying went down when he got on copper shots. what we are dealing with is with congestion, he is on albuterol inhaler solution, last year back in December he had hard time breathing because of congestion, he is on flovent 44 to help with wheezing and strenght his lungs, he couln’t sleep when he was very congested but I have given 2-3 drops of chamomile (herb) tea in his nostril to keep him moisturized and it has helped him a lot also the mattress on his crib is in reclined positionwith pillow on the sides, it also has helped with his breathing, also has a stander where he is in uprigth position to drain his lungs. Have you tried to contact Dr. Kaler to get him on copper? (skg@box-s.nih.gov ) the other day a nurse from Colombia was trying to get information on how to get his patient on Copper.
My son hasn’t had seizures but most of the menkes familes stated their sons seizures went down when they got on copper.
Christian’s bowel movements were often very hard, Have you tried soy milk for your son or pediasure? this milk is easy to digest, Christian is on Pediasure milk to increase his calories as he has disphagia, he eats solid foods but he chews very slow or sometimes keeps the food in his mouth, seems like he forgets that he is eating but as soon as I show him his drink he starts chewing again.
I hope your son’s sleep get better, if he eats make sure he burps before he go to sleep, they also cry when they are too full.
Take care
Ricarda & Christian
Houston, Texas
Hi Terri,
My son, Jack, is 13 months old. He was diagnosed with Menkes at seven months, but showed symptoms at four months. He is a textbook Menkes case: the kinky hair, seizures, hypotonia, delayed tooth development, etc. For his seizures Jack is on Phenobarbital, Topamax, and Keppra, though he still averages about 40 seizures a day.
He does not have a g or ng tube, but he takes Glycolax for constipation (from the meds). Jack also has a history of heavy mucus/phlegm, and he is a patient with Hospice of the Valley in Phoenix. Hospice has supplied us with a nebulizer, suction machine, and oxygen. All are prn right now.
Jack drinks from a bottle, and we supplement with baby food. Jack has mostly myoclonic seizures, but occassionally his hand/foot will shake. Also, lately, his seizures trigger a smile reflex.
We have opted not to try the copper treatments, as our neurologist has not had much success with them, and we do not believe they will increase Jack’s quality of life.
Good luck! I also suggest the yahoo Menkes group. You’ll find lots of support and information there.
Katherine