This is Part 2 of Alexander’s Story, click here to read Part 1.
During Alex’s journey Jhoanny had gotten some information from NORD’s website and thought about getting involved.
After he passed away, she did, becoming a state ambassador in Florida. Through NORD and personally, with her family, she has worked tirelessly to improve other rare families’ situations.
She is cautious when people ask her about gene therapy. It didn’t work for her son, but she has faith that it will save others. Right after his initial transplant, Alex had some flu-like symptoms and then seemed so healthy. Jhoanny believes gene therapy holds a lot of promise but also is careful to dispel misconceptions around it as a cure rather than a treatment. She delineates that gene therapy is a treatment, and a new one at that. More data is needed and it’s important to keep in mind that
“A lot of treatments work for some people and not for others, or they work fine, and then there is a relapse.”- Jhoanny
Her biggest hopes for the future?
“My hope is that we can continue to impact other families
The best advice I can give “have hope”. One of the concerns we have with NBS is that brand new moms are going to google ALD and get very grim stories. There is hope in gene therapy. There is hope in the fact that we have NBS. Knowing your child has this before it’s too late is so important, and for many families, it’s already too late before the families find out what is wrong. Even for Alex, the disease had already started.” -Jhoanny
Jhoanny now has several project in the works.
In Florida, she is working to ensure that families receive the support they need when they have a new baby diagnosed with ALD or another rare genetic disease. To achieve this, she is working with the FL health department to make sure siblings are tested, that families are educated, and that they have access to the specialists they need.
She is especially concerned with those in the rural areas of Florida, who have to drive over an hour to get to the nearest doctor. Once Alex had an episode and in order to get him the right emergency care, the family drove an hour, on the highway, to reach his specialist. She’s worried these distances will prevent parents from getting their children continual checkups after they have a couple healthy ones. She also is addressing the way in which education is being delivered to parents and doctors, and from doctors to patients to develop a standard of care.
Jhoanny is a big proponent of community and collaboration to drive advancements in research and bring people together so that they might have a smoother journey than her family did. She views across-the-board collaboration in the rare disease community as beneficial to all, pointing out that advancements in one condition, like ALD, could lead to advancements in others.
“I had no idea there were ALD families so close to me when Alex got diagnosed. They would have been great to talk to; that support and connection we all crave as human beings. We’re a community and I can rely on someone who has been through the same thing.
I’m working to connect families while they’re still in the hospital. There were two families we connected with after Alex passed away that had been on the same floor as Alex. It would have been great to get out to just grab a cup up coffee together and just check in with each other. We had nobody. It would have been so nice to connect.” -Jhoanny
Jhoanny hopes to check in on families in person in the same hospital where Alex was treated. She plans to fly to Minnesota and meet with other families a couple times of year; just to ask how they’re doing, and provide encouragement.
“It’s difficult but it’s something good from all the pain Alex went through. He didn’t complain when he had a right to complain; he kept a positive attitude. So what is the gain? I want to have learned something.”- Jhoanny
She spoke about how draining it is to be in that situation and how despite best efforts to stay strong, it all catches up to you. It’s this firsthand knowledge that keeps her asking herself how she can provide comfort to others.
“I’ve been in their pain. If I can make one person feel better then everything we went through and his life was meaningful and meant something.”- Jhoanny
Jhoanny and her husband have created an organization, The Alexander Matthew Foundation, in honor of their son, to help ALD families pay for living expenses while they uproot their families to seek treatment options, recognizing that a lot of families don’t have the means to.
This will also help the entire family move together, rather than splitting up. Jhoanny met a family whose child received treatment in England and only the mother could go with him. The father had to stay home and maintain their home. Jhoanny can’t imagine not having her husband with her while Alex was receiving treatment. They traded of 24 hour shifts at the hospital. Those shifts were draining with two people. Not only would this be a far more emotionally and physically exhausting experience with only one parent available, but leaving one parent at home means depriving them of what might be very limited time with their child.
The family is using Alex’s college fund to provide scholarships for boys who survive ALD or siblings of patients who didn’t, and wish to pursue a career in the medical field.
“We all have a part: if you can education one person, tell one person that you know one person with a rare disorder, it spreads the word, it can have an impact. Let’s be passionate and respectful of others, share, don’t push.” – Jhoanny