ONCE UPON A GENE - EPISODE 030 - Trust Your Instincts; An Early Intervention Can Save Your Life

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Anjela Yumel lived through a natural disaster, relocated to the US from the Philippines, was without her mother for a year, took on the responsibility of caring for her siblings, became a single mom, had a medically complex child Jaela, who was born with Hurler Syndrome. She's amazing and I'm honored to share this story with you. 

EPISODE HIGHLIGHTS

Tell us about yourself and your daughter.

I was born in the Philippines and came here to America when I was 9 years old. To me, that was a big deal. I had to grow up fast because my mom didn't come with us from the Philippines for the first year and I had to take on the responsibility of caring for my siblings. I didn't see my dad because he worked three jobs. Finally, my mother came and we were so happy and I could be a kid again. I had already learned so much about life already and had a different perspective from coming to America. When I finished high school, I had a dream of doing more for my life. I finished school and became a nurse to respect my parent's wishes. At 22, I became pregnant with my daughter. At that age and not being married, coming from a Catholic family, it was a huge deal for my family. I kept my daughter because despite discussions around abortion. When my daughter was about 2 months old, she had flu-like symptoms where she had congestion, coughing and high fever that went on for about a month. I was worried, so I took her to the doctor and she said she was fine. They checked for food allergies, which came back normal. When my daughter was about 4 months old, I was giving her a bath and noticed a lump on her lower back. I took her to the doctor again and they explained they'd have to do an MRI to explore what the lump was. For a 4 month old baby, having an MRI isn't the best thing and would cause a lot of complications. We didn't do the MRI and we did x-rays which didn't show anything. We saw the ENT doctor about her congestion and breathing issues. I found out she had large adenoids, which at the time wasn't necessarily abnormal for her age. When my daughter was about 6 months old, I was putting her to bed and her fever was so high and she was fussy. I had to give her a suppository fever-reduced because her fever was 103 degrees. She started to have a seizure in her crib and I took her to the ER right away. She was admitted to the hospital, they did all the testing, nothing came of it and I came home without answers. We followed up with the neurologist and everything was normal. I was talking with a co-worker who suggested I see the doctor her kids were seeing and I decided to try. I wrote her a long email before our appointment and she made referrals to specialists. I was comfortable and she did whatever it took to get to the bottom of what was going on with my daughter. A month after seeing her, when my daughter was 8 months old, she was studying and researching and noticed a lot of hair on her back. Because there was so much and it hadn't fallen off as it typically does for babies, she suggested I take her to a geneticist. Right away, the geneticist said that my daughter had Lysosomal Disorder. She sent the blood tests off and it was over a month later before we met with her again to go over the results. She gave us the news that my daughter had Mucopolysaccharidosis (MPS I), which is Hurler Syndrome. Hurler Syndrome is a very rare genetic disorder that caused her to be born without enzymes in her body and that it could lead to enlarged heart, enlarged liver and enlarged brain. Without treatment, it can cause death and there's no cure for the disease. The next day, we started an enzyme replacement therapy. In the coming weeks, we worked to find a match for her for bone marrow or cord transplant. Three months later, we found a match, a 37 year old white male from Michigan. 

How did you get the bone marrow donor match?

Kaiser South Bay connected me to the children's hospital in LA. They were able to find a 100% match for my daughter. They told me it may take a year or two to find a match for her, but through prayers we got the call that we had a match only three months later. We did a bone marrow transplant at the children's hospital in LA for another three months. After three months, she was 100% engrafting, so she was discharged and continued the enzyme replacement therapy after that. She's 11 years old now and she still does that once a week. 

Was there any type of isolation you had to do before, during or after the bone marrow transplant?

Absolutely. We were already isolating her while we were waiting for the match. We isolated her from kids for four months, much like the quarantine now. After she got out of the hospital, we isolated her for another 4 months before she was able to come out. If we had a doctor's appointment, she would have to wear a mask. 

What do the fusions entail? Does she have to have them every week for the rest of her life?

Since there's no cure for Hurler Syndrome, the infusion therapy slows progression. The bone marrow transplant prevented anything from affecting the brain and heart. The ongoing infusion therapy slows and possibly prevents the disease from affecting her bones, heart and liver.

How has this experience affected your daughter developmentally?

She's a normal kid and she goes to a normal school. She's much shorter than her friends, which gives her anxiety. We see behavioral specialists to work with her in a positive way. She does have an IEP, she's not a fast learner and has trouble learning and her attention span is very short.

Will your daughter have to have another bone marrow transplant at some point in her life?

The doctor told us that because she was 100% matched, that she wouldn't likely need to have another transplant. 

Share how you've changed your career to give back.

Our donor was random and I'm thankful for him. He's the reason I want to give back more and the reason I quit my job as a nurse to start my financial business. I loved being a nurse, making an impact and helping people and there was a reason for being a nurse at the time that I was when my daughter was young. When my daughter got out of the hospital, I connected with my brother, who is entrepreneurial minded and good with finances to get advice. He connected my with a top advisor who mentored me and saw the potential in me to connect with people. It's your story that sells. Facts tell and a story sells. People related to me and I wanted to protect my daughter for life if something happened to me. I love helping families to protect their finances and plan for their future, life insurance, retirement and long term care. The proceeds of the commissions I make goes to the Jaela Foundation to fund the research for a cure of MPS. 

What would you say to the parents of complex kids who can't create the bandwidth to think about the part of the future of caring for our kids when we're gone?

I'm all about self-care and personal development. Throughout those times that my daughter was going through everything, I had a journal that I wrote and that helped me put my thoughts and feelings together. No one is alone. You're not alone in this. I found out as a young, single mother, that when I took care of myself, I took care of my kid. Just like in an airplane, you have to put the mask on yourself before you put a mask on your kid. I figured out early to write in the journal, focus on positive affirmations every day, writing about what I'm grateful for. My daughter is my inspiration every single day. Whenever I see her getting frustrated when she does her homework and she does it again anyways, or when we go out for a walk for PE because she's limited in her physical activity and I see her run and try and never give up, it makes me want to become even stronger. It teaches me as a parent that I can do it all with the abundance vs. scarcity perspective. 

LINKS AND RESOURCES MENTIONED

Built Ford Tough Facebook Group

National MPS Society

Jaela ’s CaringBridge Journal

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