The Start of our Battle with ASMD
"Please God, make him a fighter."
There have been a handful of times I have prayed over my son with this specific request – from the time I found out I was over 2 months pregnant after having just gone on every ride at Disneyland the day prior, to months after he was born and I was in thick of a very real postpartum depression. But after all the times I prayed for Damian to have the strength and determination to get through a struggle I felt I was responsible for, I could never have guessed that far bigger challenges laid (very shortly) ahead for my perfect baby.
Being an introverted and fairly private person, I certainly don't feel ready to share this openly. But I also want to start helping Damian and other young children in his situation as soon and as fiercely as I can. Time is so fleeting and precious. And so I will write the facts first and end this post with my feelings.
Here it goes:
On March 22nd 2021, Damian was officially diagnosed with a rare genetic disease called Niemann-Pick Disease Type A, also known as Acid Sphingomyelinase Deficiency (ASMD). Like the name suggests, Damian is deficient in an enzyme that is supposed to break down a lipid called sphingomyelin. A deficiency of that enzyme causes a build-up of sphingomyelin in the spleen, liver, lungs, bone marrow, and brain, causing (among other issues) progressive neurological damage to the body. In other words, the baby's body deteriorates while they suffer from essentially Alzheimer's. Most who are symptomatic at birth die by age 2 or 3.
Damian is turning 2 this month. He was diagnosed as a mild case of Type A and most with this disease are in a far worse spot than Damian is currently, but he is still not expected to live to see his 5th birthday. I'm not sharing feelings until the end. Facts first.
For those of you who want to hear a medical professional explain what ASMD is, here's a concise video I found from Dr. Melissa Wasserstein, a new contact of mine and the doctor who I understand to be the most experienced with ASMD in the United States:
Campaigning for Treatment
There is currently no cure for ASMD. However, there are a couple promising treatments being developed. For Damian to survive,he would likely need access to both:
1) Enzyme Replacement Therapy - As I understand it, there are two main issues with Damian's body. One is that his liver and spleen are getting progressively damaged due to the enzyme deficiency I mentioned earlier. Enzyme Replacement Therapy (ERT) would fix this. ERT would be available to Damian now if I was able to convince the drug company to let Damian have it (they have already told me they won't). However, without the second type of treatment (below), it's possible it wouldn't do Damian much good in the end (hence why the drug company won't give us the drug).
2) Gene Therapy - The second main issue with Damian's body is that the enzyme deficiency is causing severe neurological (brain) damage. This damage is what has caused his developmental delays to worsen over time and get him to the point where he is now regressing in his mobility and muscle tone (imbalance, fatigue, feeding issues, etc.) Gene Therapy would fix this by replacing the defective gene responsible for the disease with a proper working gene. It is this therapy that is currently in the research development stage. It is this research that I will be pushing to expedite through a GoFundMe campaign that I'm working to launch this week or next. When I get that up, I'll link it here... and then all over the world, all day, every day. See, right now they are expecting clinical trials for Gene Therapy to occur in 4-5 years. That will be too late for Damian. But if they get all the funding they need, they could get it done in time to potentially save Damian's life.
I just know Damian will be here for at least another year. And so I have made it my mission to raise the money needed to fund this research and get the treatment available for clinical trial status by early 2023. If you are reading this and have so selflessly offered me "anything you can do to help," this is it. Please, please, help me make this campaign a viral success. Share this with your network, donate if you can. Please please please help me spread the word!
The campaign is going to launch either this weekend or next week. Along with the GoFundMe link, I'll be posting information and photos that you can share with friends and family on social media. As I learn about specific hurdles and timelines within the development of Gene Therapy Treatment, I'll be sure to post about it (as well as other updates) using the hashtag #SaveDamian
I am working closely with the Wylder Nation Foundation (WNF) for this campaign, and all donations will be given to them. WNF is a non-profit that is laser-focused solely on progressing the gene therapy treatment, and 100% of all donations will be going to the development of gene therapy, directly improving Damian's chance for life. Please please help me #SaveDamian
And Now My Feelings...
I don't want to write too many emotions in here because I'm a private person and sharing my feelings publicly makes me incredibly uncomfortable. But for those who truly want to know how I'm doing, besides feeling so determined to make this campaign successful,... I'm also devastated. Absolutely devastated. And partly still in denial, and partly depressed. As a natural optimist, I have been struggling emotionally, trying to find a balance between hope and pragmatism in an effort to find a mental state that feels "okay". Until now, my best solution has been just distraction. I was convinced that my life couldn't get any worse than what I've been told by the "diagnosis doctor" to prepare for. I don't know that I've ever cried so frequently as I have over the past month.
However, as I've been preparing this campaign and talking with the lead organizer of the Gene Therapy research as well as other parents, I feel such a need to have hope. Hope is what is going to drive this forward. And as heavy as all of this feels, I feel God constantly trying to comfort me. I strongly feel that God sent Damian specifically to me for a reason. If Damian was always meant to have a short life, then I am honored - honored - that God entrusted me to give a truly perfect person a life's worth of love. But God also knows that I'm headstrong and a bit obsessive compulsive and so determined to do something meaningful. Maybe our mission on earth is to spread awareness and propel forward the treatment of this disease. God knows I will do whatever it takes to extend my boy's life. I believe Damian's mission in life goes beyond bringing love and joy to our home (though he has certainly done that a million times over). I think Damian and I have a work to do together, and I think it's defeating this ruthless disease. We are both fighters now.