Daniel: Menkes Disease

Inspiring life despite a diagnosis

Daniel and his wife spent 11.5 years of their life devoted to taking care of their son Lucas. Lucas had a very rare condition called Menkes disease. Despite being total care, Lucas brought love, joy and happiness to their family.

Menkes syndrome: Daniel’s Story

What is Menkes disease?

Menkes disease is a disorder that affects copper levels in the body. Menkes disease is characterized by sparse, kinky hair which is known to break easily, failure to thrive, seizures and deterioration of the nervous system. People who have Menkes disease have a life expectancy of three to ten years.

Finding out your son has Menkes disease

Daniel shared his experience about learning his son had Menkes disease. After Lucas missed milestones around nine months old, they sought help. They were told to see a geneticist who thought because of Lucas’ unique hair texture that he had a copper related disorder.

After meeting with him Daniel said, “I went home and Googled copper related syndromes and there are two. Wilson’s disease is when you have too much copper, but you can live a long life and manage it. There are three or four medications for it now, so I was rooting for Wilson’s disease. The other is Menkes disease where you have not enough copper and you live a very short life and it is full of challenges; like he probably won’t walk, talk, or sit unassisted and those were all true for Lucas. Seizures are indicated, we didn’t see very many with Lucas. So, sure enough within a few months the diagnosis came back and that is a blessing in a way that the diagnostic odyssey was short, but it’s bad news.

Dealing with a terminal diagnosis

They were told Lucas’ life expectancy was between three to ten years. Upon hearing about his diagnosis Daniel talked about his experience. He said, “It changed everything you know, and he was one years old when we got the diagnosis, and everything changed. We thought for a while that there would be no happiness or joy or none of the normal expectations of what you thought your life with your child would be, everything seemed to get derailed.”

When asked if they grieved after finding out Lucas’ diagnosis, Daniel said, “And then there is the grief of all these little things. The realization that he won’t play sports, you grieve that a little bit, or they say he will never talk.”

He continued saying, “I’m still going through the grieving process….And since then, I’ve come to find out all these subcategories of grief that we were going through. There is anticipatory grief because you know that he will die before us, the prognosis was three-ten years and in our case, he lived 11 and a half years.”

Taking care of someone with Menkes disease

Daniel shared the daily schedule of caring for Lucas. Lucas would wake up at seven AM. He would have his daily meds that were timed with each meal, had a catheter every three hours, diaper changed, and be fed through his G-tube. There were small pockets of time throughout the day where he didn’t require active care.

Lucas was lucky, he had a loving nurse who helped take care of him for eight years. She would take care of Lucas when he came home from school until he went to bed at seven PM. Daniel described having the nurse as a huge help. He said, “..it was a burden off us”

Impact of having a child with Menkes disease

Lucas had a younger brother, Daniel described how Lucas impacted his life. He said, “Now for his younger brother he never knew anything other than life with Lucas who had a different path and special needs and high complex medical care. I think it made him very compassionate, caring and very concerned.”

For Daniel and his wife, Lucas taught them to slow down and accept things for the way they are. “It’s an odd thing to say, and then for my wife and I too, I think we had to slow down, we had to calm down, we had to accept things that weren’t the way we wanted them to be. It really became a lot of those aphorisms you hear all the time. Like “No one is guaranteed tomorrow”, or ‘Live for the moment, or ‘Don’t sweat the small stuff’. We felt an extra permission to live that way and tried to.”