Maxi has a very strong personality, he’s a very determined soul. He’s extremely affectionate, loves to cuddle and pretends to fight with his five year old brother, Jacob, and his dad– who are fun and very gentle with him. He is very boyish in personality, very happy in general with an inquisitive nature. Maxi will always be the kind of boy who is happy to share his food, his toys and his iPad with anyone– but he is extremely possessive of me (his mum)! After all, we have been through a lot together and I am his security blanket.
Maxi is different from other boys his age, though. My 2-year-old suffers from a rare and undiagnosed condition, he was presented with several symptoms – hypertension, eye tumors skin lesions, sudden weight gain, brain abnormalities and lesions, and since 18 months of age, he has reverted in gross motor skills, but none of these symptoms seem to link up; we are on a medical merry-go-round with numerous fine specialists and their teams. However, the condition is worsening and there are still no answers.
So far, we have been working with the Royal Children’s Hospital in Melbourne, it is a world class hospital and a teaching hospital, so many teams of specialists there are working on this diagnostic dilemma. However, none have ever seen this before. I also contacted and sent reports to Dr. McClain from Texas (ex Histiocytosis Organisation President) who suggested a radical chemo treatment for the brain tumors. However, after linking in with Maxi’s Oncologist Hematologist and Neurologist, they all agreed that without a biopsy of the tumors, they cannot apply such radical treatment. So that’s all at a standstill.
For Maxi, the initial and most possible speculated diagnosis to date was Juvenile Xanthogranuloma (JXG) a rare Histiocytosis condition. However, the skin lesion biopsies have been inconclusive. Also, many of the Ataxia diseases have been ruled out because the tumors in six months have not changed in size, so even though they are causing my son a degenerative condition in relation to gross motor function, the actual tumors are not causing degeneration on the brain that can be seen. Cushings disease was ruled out when the pituitary gland was found to be normal. Bone and Kidney scans have ruled out other lesions.
They cannot determine the source of the weight gain or high blood pressure; bone marrow and lumber puncture was inconclusive; biopsy of the eye tumor was inconclusive. Ruled out Prada Wills, Tay Sache, NF1 & NF2, malignancy– but they cannot confirm or deny if this is a rare form of cancer. Auto Immune, metabolic, endocrine and genetics disorders have not been ruled out; however, they have run out of things to test for. I guess it is like looking for a needle in a hay stack. The head of Genetics told me that there are no more things he wants to test. The basic tests all came back normal.
We have created a website to try and create awareness around the world, maybe someone is writing a paper about this right now? We also hope that by sharing our story we can help others who are in similar situations.
Have information that might help Maxi or mom Yael? Visit their website HERE.