Hello family, friends, and those looking to connect and share stories. My name is Amy I am the mother of three adorable children John, Anna, and Andrew, all of whom are about 1 year apart in age. Sorry in advance I am a pragmatic writer. But do keep in mind this whole experience, even til this very day, remains very emotional and dear to my heart.

Diagnosis: Both John and Andrew have Early Juvenile onset MLD. John (my oldest) is older than his brother by 2 1/2 years, and was the first to be diagnosed (at Walter Reed in Betheseda).  John was 5, nearly 6 at age of diagnosis. He had just turned 5 when I noticed symptoms. Andrew was diagnosed at age 3 (we got his results 2-weeks after John was diagnosed), and Andrew had no symptoms. Anna does not have the disease nor is she a carrier.

Symptoms: From sign of first symptom to diagnosis took 9-10 months (John). As small as this sounds, what I noticed first were my son’s toes, the second toe on each foot, curling under. They had never looked this way before and thank God I noticed that, as that was the start of what would lead to many many doctors appointments (all pointing to the WRONG diagnosis). Following the curled toes John developed an odd gait and limp, his feet became excessively arched, and he had problems running. He had leg and knee pain, and also developed the inability to walk a short distance without fatiguing rather quickly. Shortly before formal diagnosis John’s leg strength was noticeably weaker, and his upper body started to appear weak (John could not stand and hold his arms out to the side straight). Neither of my boys had cognitive problems or symptoms. However, Andrew had had an absonce seizure at the age of 1 which in hindsight we believe was correlated.

Treatments: John was diagnosed October 8 2018 and received a bone marrow transplant using umbilical cord stem cells at Duke University in North Carolina on November 28 2018. Andrew was diagnosed mid October 2018 and received gene therapy in Milan, Italy on February 4, 2019.  The MLD Foundation aided me in my decision making every step of the way.  I, like most parents of MLD children, following diagnosis didn’t know up from down, and was faced with so many hard decisions my head was spinning. Dean and Teryn were my rock, and they guided me and gave my sound advice when I needed it the most. Both boys did tremendously well through treatment, and I will quote Dr. Prasad when he said “I could not have predicted things would have gone so well, they really could not have gone any better”, (this was in regards to John). Again Thank God. I had two boys going through bone marrow transplant at the same time, one in another country and one in another state and a third healthy child to still care for. Needless to say it was a time of great hardship, unknowns, sadness, thankfulness, and hard hard FAITH.

Today: It is May 2020 and the boys are doing very well. We have had many follow up appointments in Italy (in fact just shortly before the Covid-19 outbreak there), and at Duke University. The boys continue to gain strength, heal, grow, and are “almost” seemingly normal little boys.

John: John’s limp is all but gone. He still has an abnormal gait and weakness in his legs. We were told the bone marrow transplant sometimes doesn’t help the periphery damage and in fact that may be where the disease presents later. I watch him like a hawk. He seems to have some problems with speech. As in the thoughts are there but he is delayed in getting them out in a fluent manner. He also seems to have some issues writing, but that may be because he is 7. We will find out more our next visit to Duke later in 2020.

Andrew: Andrew remains symptom free. He is due to go to Italy again soon (once this Covid-19 pandemic winds down). He will go to Milan Italy for check ups twice a year until he is about 8 or 9, and then I believe it is annual. Andrew will be turning 5 in July 2020 and I watch him like a hawk, given that was the age of John’s onset and they have the same gene mutation. So far he is a “normal” active, funny, spirited little boy with a new head full of hair and few earned scars on his little body. Andrew was number 31 to receive this form of treatment. I pray everyday it sustains his normal life.

Anna: is a happy little girl, sandwiched age wise between her two brothers. She too has been through a lot and remains healthy, loving, and caring towards her older and younger brother.

I hope one day to have the chance to mentor/be mentored, love/be loved by other families who have endured or are enduring what I have. If you are reading this and ever want to reach out and have a companion to talk to I am here.

God bless you.

 

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