By: Barbara Zukosky

I am the mother of two amazing APSers, Sophie and Madeline. Sophie and Madeline are identical twins. Although they are identical twins, their journey has been similar but not the same. Their journey began when both girls developed fevers and a rash a few months before their first birthday. Their rash and fevers lasted on and off for about 3 months and then disappeared without an explanation. During that time, we were seen by multiple pediatricians and specialists without any leads as to what was going on with our baby girls. Around 2.5 years old, we noticed that their nails were beginning to change. Once again, we looked for answers but didn’t find any. About a year later, Madeline began losing her hair and within a year lost all her hair completely. Sophie experienced patches of hair loss but most of her hair grew back. As parents, we were beyond frustrated.  

Then at the age of four, the girls were beginning to behave not like themselves. They weren’t sleeping, lacking energy, limping, emotional, and experiencing muscle cramps. I remember my husband saying something is very wrong. We visited the pediatrician and specialists a countless number of times that year without an answer. That winter, both girls got hit hard by the flu. When Madeline was sick with the flu, she experienced a seizure at home and was brought to the hospital by ambulance. A few hours later, the emergency department sent her home, saying it was a febrile seizure and not to worry. Then a couple of months later, one morning I noticed that Sophie was having trouble holding her spoon while eating her breakfast and was unsteady on her feet. I rushed her to the pediatrician’s office and the pediatrician agreed that something was off neurologically and told us to immediately take her to the emergency room at Stony Brook’s Children Hospital. En route to the hospital, Sophie had a seizure in the car while I was driving. I was terrified. Then she suffered one more seizure in the emergency room. During that time, I remember an emergency room doctor visiting her and tapping her face. I was so confused, I remember thinking, why do they keep tapping her face. Not until much later did we learn that tapping the face to look for a muscle contraction is called the Chvostek sign. The muscle contraction is caused by hypocalcemia. A few hours later, she was admitted to the pediatric intensive care unit. Late into the night, a PICU doctor handed us an article about APS Type 1 from the New England Journal of Medicine, stating that’s what they thought Sophie had. They said they were confident that Sophie’s seizures were due to low calcium. Sophie’s calcium levels were in the low 5’s. I remember looking at the visual of the manifestations in the article and thinking this is it. The following day, Madeline’s calcium was tested, and she too was admitted to the PICU. Sophie spent 10 days in the hospital and Madeline spent 7. It took a longer amount of time to raise Sophie’s calcium levels than Madeline’s due to her malabsorption issues. It was during this stay we connected with our now pediatric endocrinologist. We were so fortunate to have a doctor that had experience with APS. She then connected us to fellow APSers, the foundation, and the NIH. To know we were not alone in this, has been the biggest relief thus far. We are eternally grateful that our endocrinologist was the on-call pediatric endocrinologist that night. Following their hospital stay, I took a leave of absence from work until the girls were ready to return to school again. That summer, we spent a week at the NIH. The girls were examined head to toe and were diagnosed with Addison’s disease.  

We were relieved to have some answers but there are still so many unknowns about their future. The APS Type 1 Foundation and the NIH have been an amazing support system to our family. We constantly refer to the NIH for advice and they are always more than willing to consult with our doctors. The best advice I received early in our journey was to not get overwhelmed by what you may read online and that my girls would have their own journey with APS. No two follow the same path! There will be ups and downs in this journey, but I urge you to reach out to the APS community and the NIH, they will most definitely be there for you and your family.  

Comments

  1. 1
    Christine O'Brien on December 23, 2021

    Your girls are beautiful. I know what it is like to experience that fear prior to and after diagnosis. You’ve got a great attitude. Keep it up! Your girls will be fine.

  2. 2
    Marilena Manserra on December 23, 2021

    Hi Barbara
    You’ve got two beautiful daughters. I have been on the APS-1 journey for over sixty years and mine started out a lot like that of your girls. Some times it’s hard but I’ve experienced so much joy and good times that it has made up for the challenges. I agree that the support of the APS-1 Foundation and the NIH is invaluable and I hope to meet you and the rest of our APS-1 family in Toronto in 2023. Have a wonderful holiday season.
    Marilena

  3. 3
    Sabrina on December 23, 2021

    Thanks for sharing your story! We have an 8 year old daughter with APS1. Her first noticeable symptom was a seizure. But our journey was different as our daughter had her seizure at lunchtime and by dinner she was in a hospital room, diagnosed with hypopara. (The chest scan, MRI, and spinal tap all happened in about 2 hours!) Later in the year, we got approved for the APS1 genetic test and then the Addison’s showed up. Our older daughter, thankfully, tested as healthy with only the single mutation. I admire your strength to manage this for two kids! We love our endo and he always wants our girl to live as normal life as possible, which is our goal too!

  4. 4
    Lisa Carew on February 8, 2022

    Barbara you are an amazing mother to Sophie and Madeline. You are also an amazing teacher, colleague and friend. I’ve watched you on this journey the last few years and your strength and courage is unwavering. You are truly an inspiration to those who know and love you. This is a beautifully written reflection of your story. Your words will encourage, provide strength and give hope for others who are dealing with diagnosis. Thank you for sharing your story. May God Bless you and your precious daughters always.

  5. 5
    Janine sayers on February 9, 2022

    Girls are beautiful. Thanks you for sharing your story, alot of it is very familiar x

  6. 6
    Gloria on February 9, 2022

    What a heart moving story My prayers and understanding goes out to you You have 2 beautiful children

  7. 7
    Marion Kolsby on February 14, 2022

    Twins are very special! The love that they so obviously share will always keep them close. Your love and teaching and creative guidance will serve them well. Their smiles are magnificent! Happy Valentines Day to you all

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