Maximus’s story

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Our second son arrived in early January 2011 as a healthy seven pound nine ounces.  When only a day old, Maximus gave me a big cheeky smile.  Babies don’t usually smile until they’re 6 weeks old; I knew Maxi was special, but one in a trillion, I did not expect.

The only strange thing about Maximus in his early months was how quiet he was; he just seemed so content most of the time.  he almost never cried in the first 6 months of his life.

One day, while breastfeeding Maximus when he was almost 9 months old, I discovered what turned out to be a tumour in the cornea of his right eye.

Many months later, after struggling with steroid eye drops, two steroid injections into the tumour and three general anesthetics, Maximus had thankfully overcome this tumour and he seemed  fine.   In the meantime; at around 10 months his first skin lesion appeared – this led his specialists to diagnose Maximus with a very rare condition called; Juvenile Xanthogranuloma (JXG).  It was only a speculated diagnosis as it was impossible to do a biopsy on the eye tumour.

Between 10 and 18 months, Maxi grew 13 more skin lesions and they appeared in different shapes and sizes all over his body.

At this point, we thought it would be wise to have a dermatologist confirm the JXG prognosis.  I feared that this disease might become systemic, which is uncommon, yet possible.  After a biopsy returned inconclusive results, knowing that these lesions were benign, we were just hopeful that one day they would go away.

However, things took a turn for the worse when Maximus was 18 months old.  I took him to his pediatrician and asked if he thought Maxi was overweight as he seemed heavier.  The doctor questioned me about his diet and concluded that he was just a happy, healthy baby and not to be too concerned.

Nevertheless, I came home that day and decided to monitor this quite sudden weight gain.  I put Maximus on a diet, cutting his lunches completely – just giving him a piece of fruit or yogurt instead.  I also started to cut fats, sugars, salts etc. out of our foods.

I took a series of photos of Maximus and then had him weighed by his maternal health nurse.  I also noticed his motor skills were reverting.  He went from running up steps to crawling up; he also began to fall over a lot for no apparent reason.

After six weeks of this radical diet, I had Maximus weighed again by the maternal health nurse, and to our disbelief, he had gained a massive 2 kg.  I was shocked and took him straight to the emergency department of the children’s hospital.  I had the photographs, which was my visual diary, as well as the maternal health nurse weight chart showing the dramatic change, and was determined not to leave the hospital until my son had been given an MRI of the brain, as I was suspicious of pituitary gland involvement causing Cushing s Disease.

The horrible findings of our first hospital stay are what nightmares are made of.  Maxi’s dad. Edan and I, were taken aside by several doctors and a counsellor to be given the news of the findings of his MRI. They did not find any issues with his pituitary gland, however expressed they were shocked at what they did find.  Maxi had several tumours (type unknown & benign) in the core of his brain, plus several areas of abnormalities, including white and grey matter changes.

Maxi was also found to have unexplainable high blood pressure.  He has required dosage increases every other month because the problem continues to get worse.

To date, Maximus still has no diagnosis.  His many fine specialists have ruled out some very nasty rare diseases, however, the most unnerving thing we’re repeatedly told by doctors, is that there is no other case listed in the world that has any resemblance to what Maximus has presented with.

Maximus is very good and cooperative patient, he has a warm nature that charms his nurses and doctors.  We continue to battle his weight issue with a strict low-salt and low-fat diet and Maxi has a very busy schedule with his physiotherapy, hydrotherapy, visits to his specialists etc.  Due to his unsteadiness and large size, Maximus requires specialised equipment and therapies to assist him with his lack of mobility.  At last count, Maximus has 15 specialists from different fields he checks in with regularly.

List of specialists teams currently treating Maximus:

  • General Practitioner
  • Pediatrician
  • Endocrinologist
  • Genealogist
  • Metabolic
  • Renal
  • Heart
  • Dermatologist
  • ophthalmologist
  • Neurologist
  • Physiotherapist
  • Occupational Therapy
  • Haemotologist  Oncologist
  • Dietician/nutrition
  • Maternal Health Nurse

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Now; at only 27 months of age Maxi weighs the same as Jacob his 5-year-old brother.  Due to his unsteadiness, he has moments of frustration, fatigue, falls and knocks, but Maxi is a very happy, loving, courageous and determined soul.  When Maxi can’t keep up with other kids playing, he just happily  sits back and watches the games and laughter, we are blessed that both our boys are not the type to sulk about what they can and cannot do – always looking for good time.    This keeps us strong.

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46 thoughts on “Maximus’s story

  1. Can i ask about his vaccination history and about any medication that you received when you where pregnant.

    1. Pregnancy no drugs, immunisations has come up a lot lately, and I am beginning to be concerned, I have a friend who is posting me a documentary on immunisation, We want to leave no stone unturned, so thanks. Yael

  2. I am a homeopath and we have had training on unblocking the vaccines there is a web site called cease therapy they have been studding over the past 12 years and are having fantastic results.
    Did you have A drip to get the contractions going?
    Did he have vit K
    You said he was a quite baby and only at nine months did you notice the eye
    Did he still get the MMR although he was ill
    sorry to ask all this stuff
    How was he after his first vac

  3. Having 4children and now 4grandchildren I cannot even imagine the anxiety that you are going through. I can only say that once I had read Big Fat Lies by David Gillespie (Australian) I became concerned that modern foods maybe responsible for modern illnesses . I now eat only what my great grandparents ate. The foods that human cells have evolved (over thousands of years) to recognise and can use: not all the processed food in the supermarkets: sugar (fructose/fruit sugar) only when in season. You should read this book & see what conclusions u come to. Seed oils eg canola , linseed sunflower certainly are new made by chemical processes. What do our cells make of these new chemicals in our system?
    Only hope that this can help.
    Love to you and your son. Noni B

    1. Wow Michelle, just this week we started to look at testing for the PTEN gene which is what causes Cowden Syndrome, it doesn’t explain all his symptoms but may explain some. I shall let you know what the result is. Thanks for the suggestion. Yael 🙂

  4. I don’t have anything profound to say – other than best wishes and the best of luck with finding the problem and then hopefully the solution. As hard as it must already be to not clutch at straws, please don’t start believing kooks – as you say – the world is now at your finger tips and you can google anything and everything (and you possibly already have!) so research everything and be critical of everything, but if you even have the thought of “maybe it’s this….” suggest it to the doctors. Just keep searching and looking and one day it’ll come to you or Maxis doctor/s.

    Again warmest of wishes and hope for Maxi and your family.

  5. Hello. I’m sorry to hear about Maxi’s troubles. Firstly I’d caution against worry about vaccinations. The odds of there being any link are astronomical – especially considering he may be the only child in the world with such a strange aggregation of symptoms. As for homeopathy etc – don’t bother. You won’t find any answers or cures from unscientific crafts. I noticed that you don’t have an infectious diseases specialist listed above. I assume it may have already been considered that a virus or bacterium may be the cause of some symptoms. Interesting to note the brain tissues changes: have the doctors established a correlation with the brain and Maxi’s degenerative motor skills? Just a thought. It is of course possible – as I’m sure you have been told – that there may be more than one illness he is suffering from that is causing the neurological symptoms and his skin lesions. The hypertension could be due to the brain, assuming that the endocrinologist has ruled out kidney problems. I wish you all the best but if you haven’t already done so, an exhaustive look at microbial agents (especially viruses) may be helpful.

    1. Thank you so much for your thorough and great advice, I agree with a lot of what you say and shall revisit the infectious disease part as indeed that has been ruled out, the blood pressure you are right is related to the brain because renal has found all the organs are fine. It has been mentioned that he may have more than one rare disease and the gross motor issue has not yet been linked to anything, nor has the eye tumour or skin lesions. Thanks for your intellectual insight. Yael 🙂

  6. What a courageous and determined mummy Maxi has.. Saw your story on the news site today and cried reading about maxi, esp as our first son is the same age. I asked my husband who is a plastic surgeon to read the history and while it is definitely not his area he did ask if any of the tumours have been biopsied?

  7. The other person that would be worth your while seeing is Wayne Reilly, who works in Brisbane. Wayne was a scientist working for the CSIRO for many years, interpreting test results. He is now a very successful naturopath in his own practice. He would test your son’s blood on the spot and make inferences from what he could see under the microscope in front of him. It is live blood analysis, but because of his near to 20 years experience as a scientist, I suspect he may be able to give you some further clues.

    1. Thanks and yes you are very close as in he is suspected of having a possible histiocytosis disorder which is the umbrella term which NF1 and 2 fall under but he does not have typical symptoms of either, JXG is the closest they have come to a diagnosis which is another histiocytosis but it is yet to be proven and again some symptoms do not match, thank you thought it means a lot that you took the time to put this forward. Yael 🙂

      1. Ah, hmmm…I’ll keep digging to see if I can come up with any other ideas. Either way, I do hope they can give you an answer soon. I am a mama and my little one has a (as of yet undiagnosed) blood disorder, so I understand how heartbreaking and frustrating not having a diagnosis can be. Much love to you and your family. ❤

      2. Thanks and sorry to hear about your son, it is very upsetting that I learn each day of new people with similar struggles to Maxi. Your support is especially moving to me as you have your own struggles and you share some similar experiences that we have, I wish you all the best x

  8. Hi there, my name is Adam Hughes. These symtoms seem similar to Neurofibromatosis Type 1. My wife has Neurofibrometosis type 2 so we are familiar with the symtoms.Best wishes to little Maximus and to his family.

    1. Hi Adam, sorry to hear about your wife having NF2, they have ruled out the NF1 and NF2 for Maxi but not yet sure if he has a histiocytosis illness or not, which falls into that group, unfortunately not all his symptoms match, which is what leads the doctors to believe that he may have more than one rare condition. Thanks for the message and best wishes to you and your wife. Yael 🙂

  9. I hope they find out what is wrong with your beautiful little boy and they can help him get better my thoughts and prayers are with you and your family

    1. There’s a disease I remember reading about one time called Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD syndrome): http://en.m.wikipedia.org/wiki/ROHHAD

      It was the weight gain that reminded me of it…I hope the best for your sweet little boy.

  10. Hi, my name is Karen and I was wondering if your doctors have explored Linear Nevus Sebaceous Syndrome. It is a very rare condition that presents in various forms, my partner has it and he was diagnosed with hypertension (requiring surgery and medication) at age 11yrs due to renal artery stenosis and it has affected his major arteries. He also has many skin lesions that vary in colour depending on his tan (currently they are a distinct salmon colour). This year at the age of 40 years he has been diagnosed with Asperger’s syndrome, which is frequently attached to this syndrome. His diagnosis was made through the genetics team at the RCH Melbourne and he has recently had blood taken at Monash Medical Centre to explore his DNA l. It can also affect the eyes, tooth growth, skeletal system and present in other forms. We send our love to you and your family and know what it is like to have a rare syndrome enter your world, it can be a lonely process. If ever you need support please make contact and we are happy to be there for you, even if your specialists feel that meeting my partner may offer some answers. (He is happy to be a guinnea pig). This is a long shot but in such situations it only takes one connection to provide the missing link. Take care, Karen.

    1. Hi Karen and thanks so much for your lovely note, please email me your contact details at whatswrongwithmaxi@gmail.com as I would love to discuss this further, I looked up NSS and am yet to see if this has already been ruled out by the doctors but you never know and it does sound very much like Maximus has a lot of the symptoms. Again, thanks so much for taking the time and offering such support, so much appreciated. Yael x

  11. Hi,
    I’ve read your story and my heart truly aches for you all. I wish I had an answer but I’m sorry I don’t. All I can offer you in the number to my Osteo in Hurstbridge, her name is Janine and she only works with children. I think she understands the human body and how it works better than anyone, i have ever seen. She is amazing my son who has chronic reflux and years of pain and suffering has been able to live a relatively normal life due to what he calls “Janine magic” . She is gentle and it seems she is doing nothing…but if she can help I think it’s worth a shot.
    03 9718 1914
    She has changed our lives and I truly hope she changes yours.
    Love to your little man Maximus.
    Shelley x

    1. Thanks Shelley Janine sounds great, I will give her a call when this madness of Christmas dies down as we have so many appointments for Maxi already leading up to Christmas. But I have been looking for a good osteotherapist for Maximus and she sounds fantastic. Thanks again, really helpful ! Yael 🙂

  12. You are more than welcome…book now as new patients are about a 6 week waiting list anyway. She is amazing!!! Have a Merry Christmas and I hope the new year brings you answers xxx

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  15. I am so glad you all got to come over to the NIH. my son Nate and I went last year for a week of testing. He is the only known case with his 2 rare chromosomal deletions he has many simillar issues that Maxi has. Nate has POMC and SIM1… I know what it is like to be alone on a rare deserted island. please feel free to join our jouney on facebook. sending ((HUGS)) from sunny florida and “POMC Island, One boy an Ocean of Friends”
    http://www.facebook.com/P.O.M.C.Island and Nate’s page http://www.facebook.com/POMCmomma

    1. Dear Karen, Thank you so much for your wonderful message. I am looking forward to keeping up to date with your journey through FB. NIH was a fantastic experience and am still pinching myself that we really actually did it, we got there! Amazing. Thanks for your kind words. And wishing you all the best xx Yael

  16. Hi Yael, it’s Lyn here from the United Flight in June. How is Max coming along. I am heading to New York in 10 days so if you need anything, please let me know.

    1. Hi Lyn Lovely to hear from you, it was so nice to meet you on that flight and thanks for remembering to get in touch before you leave. I think we are ok for now as we have another couple of months of medication and the hospital here said they can make the same thing. But am so pleased you thought of us and please stay in touch. Have a wonderful time with your group in the States and hope you get to see your family again on this trip and that your daughter and your husband are great too. Best wishes, Yael

  17. one person has said that homeopath will not fix this and you believe them without investigating it any further ?

    1. Hi Tricia, Not sure why you have this impression, in fact, we are always open to a holistic approach for Maximus, anything that might help us is worth a try, I don’t rule anything out as an option, even hokus pokus. I will do anything to save my boy from his bad disease. We do sometimes have to pace ourselves though, taking on every suggestion on top of the many hospital visits just isn’t feasible, so doing what we can within our means. Best wishes and thanks, Yael

  18. Just to clarify. Neurofibromatosis, either type 1 or type 2, are actually not histiocytic disorders. Many of the symptoms you are describing are common in NF. NF children are more likely to have JXG, very rarely this is associated with JMML which is also increased in NF children but more often than not arises in children with NF without leukemia. High blood pressure can be idiopathic in NF, meaning no cause is ever found or it can be the result of vascular issues such as renal artery stenosis which can be detected by a kidney ultrasound. In older NF patients high blood pressure is sometimes also caused by a tumor on the adrenal gland called a pheochromocytoma. NF children also have abnormalities of the brain that show up as changes to white matter. Typically these are called UBOs , Unidentified Bright Objects. They basically show up as areas of hyperintensity on T-weighted images. While not diagnostic of NF UBOs are very common in NF children and sometimes regress at puberty or after. 1 in 5 NF children also have brain tumors…..gliomas which are pilocytic astrocytoma stage 1. They are benign brain tumors that virtually never progress beyond stage 1 and typically have a much more indolent course than non NF brain tumors. Often they never require treatment, particularly in boys, unless they are causing overt symptoms or vision loss. It takes 2 signs to be clinically diagnosed with NF if these brain tumors are gliomas/pilocytic astrocytoma then your son would meet one clinical criteria. The fact that you don’t describe any brown birth marks is uncommon in NF but not entirely unheard of. There is a simple genetic test available to look for an NF mutation that might be worth doing if you still have not found a diagnosis for your son. http://www.ctf.org/pdf/brochures/NF1-Brochure.pdf

    http://www.ctf.org/

    http://www.nfnetwork.org/

    Just a thought. Good luck!

  19. If I can add to my previous message above. If you haven’t already ruled NF out—and I mean by someone who is very, very familiar with the disorder— you might want to try sending your scans to whoever is running the NF clinic at Childrens Hospital Westmeade. It use to be Dr. Kathryn North, not sure if she is still there or not. NF is an incredibly variable disorder so it is crucial to have someone with expertise give an opinion, regular geneticists and neurologists tend not to see NF patients on a regular enough basis to really have a firm grasp of the disorder.

    http://www.nfauk.org/

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