Where Do I Begin?

It has been a long 19 months for our family, most particularly Zachary and myself... Zach is a medical puzzle and I am his primary caregiver who is with him through ever procedure, appointment, pain and question.

Zach's journey began in July, 2009 when we noticed a faint hyperpigmentation on his forehead that appeared to be spreading. I initially thought the doctor would tell me to slap a little hydrocortisone on it, but I had no clue that our lives were about to change. He was diagnosed with having Plaque Morphea/ Localized Scleroderma through a punch biopsy of the site. Localized Scleroderma is an overproduction of collagen in the body. The pediatric dermatologist put him on 3 different topicals and we were told to move about life as normal other than applying extra sunblock as precaution and not to worry as it cannot become Systemic Sclerosis (full blown Scleroderma).

Two weeks later, we were contacted by the Pediatric Rheumatologist and he and the dermatologist felt it necessary to begin treating Zach internally as well as externally. He put Zach on Methotrexate (MTX) and Hydroxychlorequine (Plaquenil). The MTX was to supress Zach's immune system and slow down the collagen production, the Plaquenil was to control the inflammatory purposes of the plaque type lesions. There was concern about atrophy happening on Zach's face and they felt this would get it under control.

Simultaneously, Zach had been snoring away all summer long with massive adenoids and tonsils and appeared to be exhausted and fatigued all of the time, we were unsure if the discoloration under his eyes was from sleep deprivation (bags) or from his allergies (allergy shiners). He underwent a sleep study in October, 2009 and was diagnosed with Restless Leg Syndrome (RLS) and Periodic Movement Disorder (PLMD) from the sleep study. He showed to be on the apnea scale but low enough that the ENT determined he would not need to have an adenoidtonsillectomy. Phew! We caught a break somewhere. He was put on Zyrtec and Nasonex nightly. They also found that he was Anemic and felt that raising his iron level would get his RLS and PLMD under control.  They began him on Ferrous Sulfate and Vitamin C to help absorb the iron.

We were in maintenance mode for about a month before things took a turn for the worst. In January, Zach developed more lesions on his body. The doctors increased his MTX from 4 pills to 6 weekly. This did not seem to help but we knew it could take up to 6 months to get into the system and work.  At the end of the month, Zach got very sick with a mycoplasma infection and was spiking high fevers and developed an unexplainable rash for over a week. That infection appeared to do something to him that was irreversible... every time he gets sick with an infection (most specifically, a mycoplasma infection), he develops new symptoms that the doctors cannot explain with his diagnosis.

Zach's skin began to itch all over and he was climbing the walls unable to get comfortable. He also developed arthralgias (joint pains) all over his body and would be fine one moment, running around the house and then would be dragging a leg or holding an arm or hand and screaming in pain the next moment. This went on for days and with no answers from the doctors as to the cause. I pulled Zach out of school and they set up a tutor for him twice a week. Zach was homebound for 6 weeks with me and the tutor and his twin toddler sisters. The doctors offered no pain relief and I began wrapping him in the heating pads and soaking him in warm baths.

He returned to school with constant trips to the nurse (almost daily) and then he got sick again. He was ouot another week. A new symptom developed... GI issues. Zach has now suffered with stomach pain almost daily since April, 2010. He ranges between constipation and loose bowels and is in constant pain in the center of his stomach.

In August,2010,  we saw a new dermatologist locally... she immediately biopsied a lesion on his stomach and the biopsy confirmed Morphea there as well. By this time, Zach had lesions everywhere... especially his abdomen, legs, elbows and both sides of his forehead. He was in constant pain in his stomach and his joints. I finally convinced the docs to let us see a GI specialist and to head to NYC for answers from another Rheumy and Derm. The trip was uneventful and we came home with no answers but a new symptom. Zach had an infection (mycoplasma) before/during our trip, and the morning after we got home, he awoke with his arms flailing and hands shaking uncontrolably. He was completely coherent but just as scared and freaked out as I was. The doctors still did not believe there was any connection with the Morphea, the joint pains, the stomach pains, the RLS/PLMD and what looked like a partial seizure. I was ready to rip my hair out.

We finally began hydrotherapy twice per week. It seemed to help with the pain a little bit. After an upper GI fluoroscopy, GI could not find anything but put Zach on a muscle relaxer thinking it may be an organ spasm. The Rheumatologist switched Zach to the injectable form of MTX instead of the pills with me getting to have the privilege of giving him his weekly injections. That went over really well... we had to have a home nurse come for 2 months to work with me and Zach on this. Neurology ordered an MRI and an EEG and both have come up normal... school was complaining that he looked like he was having absence seizures. Apparently, we believe Zach's RLS/PLMD is not under control and this is leading him into some kind of fog during the day from lack of deep sleep. We are heading back to Sleep Medicine tomorrow and will be discussing treatment with Neurology in June as well.

Zach got sick in February and has developed yet another new symptom... chest pains and heart pains. The EKG was normal and the recent chest xrays have shown no signs of Orthostatic Intolerance, Pneumonia or any Dislocation or Subluxation. Again... a mystery as he suffers!

Our recent visit with the Rheumy shed some light... he diagnosed Zach with Hypermobility Syndrome. Apparently, Zach's joints extend too far (-15 degrees) and this is causing the excruciating pain. The Rheumy did not feel that the swelling and stiffness (primarily morning stiffness) was from any form of JRA... even though I showed him pictures of Zach's swollen joints during flare ups and Zach now has joint deformities. The Rheumy put him on Meloxicam (Mobic) for preventative pain measures. We are now keeping our fingers crossed. The PT and the Rheumatologist are not in agreement and I know there is something else we are missing here. He could not give us any anwers for Zach's joints swelling and deforming or for his stiffness.

We are now on our way to NYC again at the end of school to see a different Rheumatology Specialist...Dr. Lehman, who wrote the books about Pediatric Rheumatic Diseases in hopes of answers to complete the puzzle. In the meantime, we are working with PT and OT to try to accomodate Zach so that he will not miss any more school (I believe he has missed close to 70 days this year).

We have our initial 504 meeting next week to set up accomodations for him at school. I will end here. I know this was a bit long but had to start somewhere. Wondering if there is anyone else who is going through all of these symptoms with normal bloodwork.