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My son has Menkes disease. It is a rare genetic disorder. Does anyone here have any advice? I can't get any copper supplements here for my son. I need some information on what is the progression of the disease. The doctors here do not know.
Menkes syndrome Arthritis Pain Counseling Spinal muscular atrophy Tube feeding Pregnancy Bone marrow transplant
I know a lot about this disease you woul dbe givig him copper histidine or chloride. Theses are injected with a half inch needle that is 27 g. Call the NIH building 1-301-496-8368 dr kaler can help you im sure he can!
Hi,
Have you thought about applying for "compassionate care" from a country that can treat this disease? Usually the same government offices that handle political asylum handle requests of this sort.
Cathy
Dear Menkesdisorder,
My baby was given a 1-2 years life expectancy with Type 1 SMA, Werdnig-Hoffman. From what I learned from her life, and from now having my own neurological disability, nobody knows what the day brings. Health does not guarantee a tomorrow for anyone. The gift of that truth is "cherish today."
I always prayed for a miracle, but also acknowledged reality...I would have my daughter for a short while. Thinking of a future without her, I would go into the bathroom and just sob during periods of grief. (Cathartic) I never wanted her to see my pain, only my love for her when she looked into my eyes.
She had a feeding tube. I changed the dressing daily and changed the tubing weekly. During feedings and G-tube care, I sang, talked, and did silliness with her. Her daily care involved several medical procedures for her comfort and well-being. I made them special and fun for both of us...playtime. I experienced ignorant and painful comments/suggestions from clueless others. I understand your feelings.
Knowing all of the gut-wrenching ramifications of the illness my child had...I did not want her to suffer, but did not want to lose her. I was afraid she would live, afraid she would die.
So...I tried to take each day as it came, troubles and joys. It is a difficult path you are on, but I can promise you, your beautiful little boy will bless your life in ways you can't imagine. He is a special treasure from heaven. In spite of the tears, my angel was worth every precious second I had with her.
Give your handsome little guy (love your family picture) a birthday hug from all of us moms who have walked and are walking this difficult journey with you.
I will keep you and your little one in my thoughts & prayers.
my son also has a genetic disease, x-ald. he underwent a bone marrow transplant late october 2008. he has continued to decline but with any luck it will stop soon and we can work to recover. feel free to talk to me if you like.
Thank you for your well meant advice. I am very touched by it as there hasn't been much support where I am. Other than close friends, there isn't much support. I am currently residing in Singapore. The doctor's here are not very helpful as none of then know what's the progression of my son or what can we do to help improve his quality of life. And if it wasn't for the visiting Doctor from UK, I doubt he would even be diagnosed with Menkes. No one recognized the signs. I was lucky in that sense and I thank God for giving me time to create beautiful memories with my son. He is the 2nd case here in Singapore. Therefore no supplements can be gotten here and virtually no one knows what to do. We are seeing a genetic doctor who is doing her best to help. The first couple with the Menkes child didn't want to go on the supplements so the doctors here only actively started looking for it when my son was diagnosed. It took them a long while but the labs overseas don't have it. Only the hospitals who had a menkes patient had it. The only problem was they could not export it out to us. No license. They however did give the ingredients to the doctors here. But they still need to seek approval from the govt before they can manufacture it and it will take a long time. Estimation: if i have another child and if he is also a carrier, the supplements should be ready by then. It would be useless by then for my current child. But I am lucky as we did the genetic test and found that I am not a carrier therefore my next child should be ok. I dare not try what you suggested as there's no way of checking if it could harm my son. The copper could prove toxix for him. Even the supplements given by the hospital could have adverse effects on him. He is turning one next week and sometimes it gets to me as I do not know how much time I really have. I was quite upset last night as I cannot imagine not having him with me. And my father in law is chasing me to have another child cause he wants another one to play with. I hated the idea that I should have a child so he could play with him. If I wanted another child its cause I am ready and cause I want one. Its as if my son now is sick so therefore he is no longer important. Life is so different now as ignorant people stare when we bring him out as he is on tube feeding. It gets to me. I love him so much but am unable to make things better for him. But there are good days as well. I try to look at the happier side and treasure what I have. So once again thank you for the support. ;-)
Hi Cathy,
That is an excellent idea and even better than mine... I wish I had thought of that. I think what they are talking about is liposomal encapsulation delivery. They ( the pharmacist) could encase the copper compounds into basically specialized soap molecules that cross blood brain easily in a nasal spray. Thanks for your suggestion.
Thanks,
Aleck
I did not mean to get on a soapbox yesterday, but I have a deep burden for those whose lives have been drastically altered by illness. Outside of my own experiences, I have shared too much with many others. I care.
Menkesdisorder, If you type in Menkes Syndrome in Google search, several good websites come up explaining Menkes. From reading about it, my understanding is that it is not just a copper defficiency, but also a problem in metabolism creating a host of difficult health issues for the child.
NINDS provides a brief but informative explanation. Some family support sites come up along with genetic counseling. (My greatest support through that time was a special friendship with another lady whose son had a rare diagnosis.) I still refer to the advice by the genetic counselor.
Any insight I can offer, the most important is to cherish your little one, enjoy him. He is special. Understand Menkes. Never lose faith, but appreciate every day.
I find strength and comfort in knowing God.
Hi Aleck and "menkesdisorder",
I have a brain disorder and have the same goal of needing to get maximum medication to the brain with minimal amount going to the body.
I researched and found a medication that crosses the blood-brain barrier in maximum amounts. Then I went to a specialty compounding pharmacist who suggested that they could compound my medication into a nasal spray for me and that the close proximity to the brain would yield maximum results for me.
My heart goes out to anyone with a child suffering from serious chronic illness, and to you, Betty-Oops, for the child you lost. My son inherited my immune system problems, but luckily has never been critically ill. I did, however, almost lose him in the middle of my pregnancy.
It is excruciating to see your child sick and suffering. I am always amazed at the incredible courage and determination parents of seriously ill children show.
Cathy
Reading about Menkes and visiting the foundation page, I am reminded of, with vivd freshness, the time I was blessed to share my child's life. With the prognosis of a diagnosis like Menkes or Werdnig-Hoffman, the air gets sucked from the room. In the initial void of shock, there is no room for the painful reality of the ramifications that eventually squeeze tears from your soul, temporarily squelch hope, consuming grief.
I can only say, I understand. In hindsight, my daughter was a cherished blessing to my life. I am thankful and honored to have been her mother. In spite of the sorrow, her life gave so much more joy, touching many.
Erma Bombeck had written a poem I hung on my refridgerator. I read it often. Here is a link to the poem:
http://www.hyperlexia.org/bombeck.html
======
I would like to share a tribute of a little girl with SMA with this special group of families and their angels with special thoughts, a prayer, and a hug.
Forever In My Heart
http://www.livingwithsps.com/l-casey.html
Hello Adwyer,
I am on the aggressive end of survival, 20 years with SPS, and one year of watching my beautiful child die. I have also had the priviledge to meet three of the nation's top research neurologists, personally communicated with four others, one from Europe, and a world-reknowned research scientist. (Often cited as a lab reference in peer-reviewed medical documents and the one who did my antibody titer for SPS.)...all spending countless hours "aggressively pursuing solutions" and understanding of several neurological nasties...personally involved. (They taught me well.)
I have spent several years in personal communication with other's with SPS, meeting several, also participating in an NIH research trial for my disease.
Having lived a year with a terminal child and meeting several other families with special needs children, you cannot presume to know what you would do until actually faced with the pain of that unimagineable situation. I hope to God you never do. I walked the walk.
While I respect your contibutions/opinions to discussions, you do not have the medical qualifications to understand all of the rare disorders discussed in this forum...all the physical ramifications, medication reactions, and disease prognoses as a medical research chemist. I am extremely skeptical of unproven remedies by the medically unqualifed or medically inept. My constant quest for answers has saved my behind from the traditional medical community many times.
Accepting fate? I was told I would die 15 years ago, documented in my files. I adapt with action. I voraciously study/learn everything I can about my disorder from the kinowledgeable professionals who put in the research time and effort.
I also study ideas similar to your suggestions, just in case. I have yet to see any documented research trials proving efficacy for any of the unproven therapies I have seen touted several times by countless others on other forums.
Living with a chronic disorder is like playing football. I need to know, understand the game...the plays. The doctor is just my coach. I am the one eating dirt, facing the opposition. I try the impossible, do the difficult. I am on the aggressive end of living... Determination.
Unproven "stuff" can kill. There is responsibility and accountability when one offers hope without proven substance. These are human lives: fragile, hurt, many desperate. This is a cruel reality for some living "in the box."
If you child were seriously ill, would you seek the advice of a medical research chemist, or a medically qualifed & knowledgeable specialist? If I understood your posts correctly, you would experiment on your own child with Internet compounds not regulated by the FDA or proven effective or safe in clinical trials.
Thank you Betty-oops for getting the whole article it was very interesting. I am protein/enzyme chemist who does medical research so I am on the aggressive end of the solution finding scale. I only want to give ideas that are worthy of considering. What I would do with my child might be different than what others would do.
After reading this article and recognizing that blood-brain barrier is an obstacle. Additionally, only a very small amount of copper is necessary in the brain nerve tissue. I would consider the dissolving of the copper into a solution of DMSO. DMSO is an amazing solvent that will penetrate the skin, blood brain and basically anything with relatively low toxicity. In the old days people use to put it on their joints for arthritis. It didn't do much for arthritis but did penetrate well. So in thinking "outside of the box" for Menkes I would consider creating a solution of copper acetate in a solution of DMSO and smearing it on the neck of the child.
The theory being the DMSO will cross the blood and blood/brain barrier through the carotid arteries carrying the copper with it. The amount of copper actually delivered could be much less because of better targeting.
My wish is only to provide options to consider. I am not the type to accept fate well. I am the type to try "stuff" instead of doing nothing and hoping for the best.
Thanks,
Aleck
My heart goes out to you. I understand what you are feeling. I lost my second child to a genetic disorder, Werdnig-Hoffman, the infantile form of Spinal Muscular Atrophy.
During many hospital stays, I met amazing mothers and very special children, one mother had a beautiful little boy with Menkes.
Having been in your shoes, I would follow the advice of the genetics counselor and contact the organization for Menkes. They would be personally understanding of your situation and aware of current medical information regarding Menkes. I met a genetics counselor who lost two sons to Werdnig-Hoffman. She became proactive with her losses, saving tissue for research. Now, there is a nonprofit for Spinal Muscular Atrophy, uniting families for support and education.
Sometimes love for a child can make one desperate to try anything. Always view any Internet supplement with caution. Supplements are not FDA regulated as they are sold as a food supplement, not for medicinal purposes. Please use this resource link to understand supplements and alternative therapies:
National Cener for Complimentary and Alternative Medicine
http://nccam.nih.gov/
The link Adwyer gave you was for an abstract. The entire article may be read at this link:
Neonatal Diagnosis and Treatment of Menkes Disease
http://content.nejm.org/cgi/content/full/358/6/605
From the article:
...other challenges in the treatment of Menkes disease involve overcoming defective copper transport at two levels, the gastrointestinal tract and the blood–brain barrier, and the potential renal toxicity of exogenous copper...
From onelook dictionaries:
Quick definitions (exogenous)
▸ adjective: derived or originating externally
My best to you and your special little one.
Hi,
I found the a paper concerning the supplement you need. http://www.ncbi.nlm.nih.gov/pubmed/18256395 It appears that they used a copper acetate supplement. The problem you will have is not getting the supplement. It is at any chemical supplier found on the internet. The problem will be formulation and sterialization. If I were in your shoes I would get this paper and follow the methods closely to formulate the concentrations that they did and do the copper replacement therapy myself. Please email me at aleck.dwyer@thomson.com if you have any questions.
Thanks,
Aleck
How is he faring now? My son is currently a year old. We can't get the supplements here at all as the drug is not licensed therefore cannot be exported. I feel so helpless just watching him decline.
my son was 9 mounths when we found out he had it we get his copper from mayo clinic in rochester mn
Please contact NORD to request our report on Menkes disease:
orphan@rarediseases.org
The following organization may also be able to assist you:
Corporation for Menkes Disease
5720 Buckfield Court
Fort Wayne IN 46804
Phone: 219-436-0137
Email: j1@home.com
Hi, I have a genetic disease and when ever I need to find something out I get in touch with my genetic Dr. I'm sure you have one? If you don't go on your computer and type in Genetic Doctors in your area and ask the Genetic Dr. where to find copper supplements.
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