THIS is ALD #19 — Alan, Cesar and Maximiliano

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My name is Kim and I’m the oldest of four children. I have 3 brothers. Angel , Cesar, and Alan. My brothers were all born healthy. Until 2016 nobody knew this horrible disease ran in the family.

December, 2015 my mom started noticing changes in my brother Alan – he was eight-years-old. He was having hearing problems and a hard time at school. My mother took him to a hearing specialist and they didn’t think anything was wrong. By May, 2016 things got worse. Alan started complaining of a terrible headache and was taken to a local hospital. They transferred him to a bigger facility, but the doctors had trouble figuring out what was going on. It wasn’t until they did an MRI that they discovered Alan had ALD.

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Alan and Cesar before ALD

My parents are Mexican and speak little English. They understood the diagnosis, but had many questions. When they learned that ALD is genetic, my two other brothers, Angel and Cesar, were tested — Cesar tested positive for ALD. My parents were heartbroken.

This was the same month I found out I was pregnant. When my parents shared the news with me, I took it pretty bad. I was six months pregnant when I found out I was a carrier. I learned that, since I was having a boy, he would need to be tested as soon as he was born.

Alan’s health started going down hill quickly. Doctors told my parents Alan had very little time and there wasn’t anything anyone could do. He lost his hearing, vision, speech, and started having trouble walking. My mom became his full time caregiver. Cesar was not as symptomatic and qualified for a bone marrow transplant (BMT) which he had in December, 2016. My mother was now caring for one son who was recovering from a BMT and another who’s disease was moving quickly.

My son, Maximiliano, was born just after Cesar’s BMT and was 3 weeks old when he was diagnosed with ALD. By January, 2017 my brother Alan was in a vegetative state and Cesar was doing well and was out of the hospital. It was really hard on everyone. We couldn’t believe three people in our family had ALD, including my son. The reality really set in when on March 23, 2017, my brother Alan lost his fight to ALD – just a few days after his 10th birthday.

Maximiliano is now a year old and he’s the sweetest little boy ever. He’s so smart, always smiling, and super curious. It’s really hard for me knowing my son has ALD. Knowing ALD took my brother away from me. Maximiliano is seeing specialists at UCLA and at Santa Barbara. I’ve gotten in touch with doctors at the University of Minnesota and I plan on taking my son this summer, and seeing what they have to offer.

Next month will be a year …a full 365 days since my little brother left us. It’s been really difficult for all of us to continue our lives without him. Holidays were more sad than happy. There were a lot of ‘firsts’ without Alan. In my heart I know he’s in a much better place. He’s at peace.

I really wish Alan had been diagnosed sooner and could’ve gotten treatment. Newborn screening could’ve saved his life. I think about everything that’s happened in the last 2 years. I’m a strong believer in God, but can’t help but think to myself why did He let this happen? To an innocent child? This horrible disease ruined my family but also made it stronger.

—Kim

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This beautiful family lives in California, which has now added ALD to it’s newborn screening panel. I try not to spend too much energy with “if onlys”, but I am glad that future generations of ALD families in CA will have the luxury of knowing and preparing. Alan didn’t have that luxury, but Cesar is doing well because he was treated in a timely manner and Maximiliano is being monitored by a team of specialists who will be prepared to help him IF he becomes symptomatic.

Corresponding with Kim has been an honor. She has been so honest and informative. I wanted to share two other notes I received from her last week:

I forgot to tell you, when I was pregnant I would place both of Alan’s hands on my belly, and he would get this huge smile and hug me because he knew it was me. He couldn’t see, but he was still aware of his surroundings. Before he lost his eyesight I showed him a picture of my ultrasound and he told me my baby looked like a little alien! I remember he was so happy he was going to be an uncle …

The night before my brother passed away, my mom had a dream. She told me Alan appeared to her in her dream and he told her that he was going to be okay but he didn’t want her to cry. I get the chills every time I think about this. I guess that was his way of letting my mom know … the next day he passed.

Thank you Kim.

 

Love, Jess

THIS is ALD #6 — Donovan

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Another ALD story to share, and this one is a little different. This is a new story for ALD –hopefully the future of our disease. It’s a story about a boy, newborn screening, and a bright future. Meet Donovan.

THIS is ALD #6 — Donovan

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My son, Donovan, was born in Connecticut in 2016. When he was 3 weeks old, his pediatrician called and said he tested positive for a “metabolic disorder” on his newborn screen and needed further testing. She was purposely vague because she didn’t want me to Google the disorder until we had confirmed answers. It didn’t do much to keep me from worrying, though. She mentioned that if it was confirmed, my 3 daughter’s would need to be tested as well. Without much information, I was scared for my son’s life, and the health of my daughters. 

The tests came back positive, Donovan had ALD. Don’s pediatrician continued to be vague, and I understand why. She wasn’t an expert on the disease, and didn’t want to give me any false information. My first question was “Is it life threatening?” All she could say was, “It can be.”

That’s when the Googling started. 

We met with a geneticist at Yale, who was the only expert in the state. The information she gave us was overwhelming, and tough to process. So many unknowns. When will it manifest? Will it ever? What type will he have? How severe will it be? There was no way to tell. My husband and I spent several nights cradling and weeping over our newborn son. So small and perfect. How could he have this monster inside of him?

After the diagnosis, I joined the ALD support group on Facebook and met some amazing and wonderful people. I was connected with lovely families here in CT, some who were also diagnosed through newborn screening! 

At 3 months, they tested Donovan’s blood to get an understanding of his adrenal function. At 6 months, he had his first MRI. I was terrified. I knew there wouldn’t be anything to see in his scans at this age, but they had to put him under so that he would be still, and that worried me a lot. He came through it like a champ, though. It didn’t seem to bother him at all! 

Donovan is unique. First of all, he did not inherit the gene from me. I am not a carrier, and no one in my family, or my other children, are at risk. Donovan’s gene spontaneously mutated while in the womb. This only happens in 5%-7% of ALD babies. Secondly, he is, what his geneticist called, a “mosaic.” This means some of his cells are mutated, but some are not. She seemed baffled by it. She didn’t know how or why it happened that way, or how that might affect his condition. If at all. More unknowns. So they treat him like any other ALD patient, and I am grateful.
 
Don is now over a year old. He will have yearly MRIs until he is 3, and the every 6 months. He will also have his adrenal levels tested every 6 months. So far, all his tests have been normal.

ALD has opened a whole new world to us. I’ve met people I never would have otherwise known. Strong, beautiful, inspiring families. Some of their stories are terribly tragic. My husband asks me why I read those stories if it makes me so sad, and I tell him, “Because they put their pain out there. I just want them to know someone is listening, and someone cares.”

I am not a perfectly patient person, not at all! But I do think I live a bit differently, now. I take more pictures and videos, I give more hugs and kisses, I say more “I love yous.”

Donovan is my 4th child, but my only son. His older sisters adore him! He is cuddly and happy. He is curious and likes to get his hands on everything! He has even started climbing, now! His sister, Josephine, is only one year older than him and they are best friends. They do everything together and always want to be with one anther. My older 2, Mika and Ripley, help change diapers, teach, and play with him. 

None of our children know much about his ALD. My 9 year old has heard us use the term and noticed his many doctor appointments, and she just understands that he has something inside him that could one day make him very sick. So we have to keep an eye on him. We have settled into our “normal.” Life has gone on, and I couldn’t be more grateful for that! For the chance for life to go on.

-Diana

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Diana and I met through the ALD Support group she mentioned and when she agreed to share Donovan’s story I was thrilled. It’s so important that people realize the advantages of newborn screening and an early diagnosis. Although the news must have been a huge slap to their family they are allowed to prepare and monitor.

The hope is that beautiful little Donovan will go on to have a perfectly normal life and ALD will stay dormant forever, but just in case, his family has a plan in place. It’s thrilling.

Diana told me that she wasn’t a writer, but I beg to argue. Her voice shines as a mother who loves her children and will do anything she needs to do to give them the best life possible. Thank you for sharing your story, Diana, and for helping people better understand our not-so-rare disease and the importance of newborn screening.

Love, Jess

 

 

 

 

Happy tears

We’ve prepared for this news for eight years. I’d worked so hard to be equipped for a different outcome, that I was not ready to hear the words, “Anna is NOT a carrier.”

I was in the middle of World Market with my cellphone pressed tightly to my ear, sobbing, asking to hear the words again.

When Jack was first diagnosed with ALD, we’d never heard of the disease. We had a difficult time understanding the way it had traveled down our family line without appearance – until Jack. An X-linked disease, carried by the mother. It effects only boys. My brothers seemed to have won a lottery, but my son was not so lucky. Nature is not fair.

Of corse the focus for our family has been to help Jack survive the disease, but a question has been asked a lot over the past eight years. Often in hushed tones with gentle hands gripping my arm, “What about Anna?”

My answer was always at the ready. Sounding confident and positive, I’d say that we didn’t know, but weren’t worried. Anna’s odds of being a carrier were 50/50. If she carried the disease the biggest concern was the gene spilling into the next generation. I’d list the variety of options Anna would have to conceive, if in fact she was a carrier. I’d go on and on about the wonders of modern science and finish with,  “By the time Anna is ready to start a family, there will probably be a simple cure for ALD.”

Here’s the truth — underneath that speech, I was terrified. ALD has stolen enough from our family and I wasn’t sure I could find the energy to fight with ALD again. While it would not be impossible for Anna to have children without the mutation, it would be complicated. Having children is complicated enough. And our family has been through enough COMPLICATED.

So for eight years I’ve been crossing my fingers, while trying to prepare for whatever news we would hear. We didn’t want to test Anna until she was ready, but as soon as she asked, we made an appointment.

Meeting with the geneticist last month was fascinating for our science girl, Anna. For her it was interesting and she approached the information like a research project. It was not as easy for me. I did my best to keep a polite smile on my face during the meeting and make the day as festive as possible. Anna has always been the most important audience for my “We are not worried” speech. I think I managed to get away with it because last night when Dan and I shared the news, her only question was, “WHY are you crying?”

We’re so thrilled with the news that I’m still weeping a day later. I hadn’t appreciated the weight of this threat until it was released. Our beautiful girl dodged a bullet. I think I’ll be crying for a while. Happy tears.

Anna’s always been a good student and this is just another test that she managed to crush!!!

Love, Jess

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Anna and I share a lot. I’m just glad that we don’t share everything.