After confirmation of Alana’s new issues (low muscle tone, RR & HR issues, de-SATs, etc.) the referral to Genetics was pretty easy so on March 25th we met with Dr. Wallace from Seattle Childrens Genetics department here at the Alaska Clinic. Dr. Wallace was very nice, and seemed genuinely interested in Alana’s health and background. She did come in with a short list of things she felt Alana might have, Hyper IGD, Muckle-Wells, TRAPS, Mitochondrial disorder, and a few others. I was able to knock off a couple right away due to gene testing but a couple still remained, Muckle-Wells & Mitochondrial disease.
During the physical examination portion of the visit she pointed out things with Alana that we never really noticed, for instance, her eyes are a different shape then all of ours, her hair is sparser and coarser as well. She has a single palmar line on her hand (simian crease) were as no one else, all the way up to grandparents & aunties and uncles, do not, and a few other physical features. Then there were things confirmed that we did know, her hands and feet can be burning hot and red while her core is 96 degrees. She has rash “spots” on her body, almost eczema like in nature but do not respond to meds, she has mild over lapping toes and the list continues.
One thing that we were grateful for was that she noticed Alana’s teeth. They’ve been a concern of ours for awhile now as they are chipping away from the bottom up and pitted. The dentist keeps a close eye on her in regards to this, the technical term is Hypoplasia enamel and it’s just what it sounds like, low to no enamel on her teeth. The doctor thinks that this may be a clue as to what’s been going on with Alana all along but until more tests are done there’s no way to know for sure.
What ends up happening are 2 things, 1: Alana does a couple of special urinalysis’s to look at Muckle-Wells and Mitochondrial disorders. 2: If the testing for Muckle-Wells comes back negative then we will have a referral to see a mitochondrial specialist in Seattle and look down that alley. Here is some brief information on both diseases so you can see what we were looking at:
Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder. People with Muckle-Wells syndrome have recurrent "flare-ups" that begin during infancy or early childhood. These episodes may appear to arise spontaneously or be triggered by cold, heat, fatigue, or other stresses. Affected individuals typically develop a non-itchy rash, mild to moderate fever, painful and swollen joints, and in some cases redness in the whites of the eyes (conjunctivitis). Hearing loss caused by progressive nerve damage (sensorineural deafness) typically becomes apparent during the teenage years. Abnormal deposits of a protein called amyloid (amyloidosis) cause progressive kidney damage in about one-third of people with Muckle-Wells syndrome; these deposits may also damage other organs. In addition, pigmented skin lesions may occur in affected individuals.
Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common. Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.
Either way you shake it they were scary things to look at. After waiting a few weeks the urinalysis came back and they were normal. Go figure. That did mean that we needed to start the next step, meeting with the doctor in Seattle about the mitochondrial disease.
While that is in the works things just keep on keeping on. Alana is working on another flare up and we are trying to keep her comfortable and most of all, out of the hospital. Her cough is increasing again, and the fevers are coming much faster and closer than they have in the past. She’s sleeping for 4-5 hours after PT and OT isn’t much better. She’s on 1.5 liters of O2 to function enough to do PT and OT but she’s still having incredible amounts of fatigue, not eating well nor drinking, mumbling and not making sense when she’s talking, de-SATing for no reason, chest rattles, rashes, red, angry spots on her tongue, and motility issues that are causing her a lot of pain.
Things stay this way and weeks go by with no change. Finally I bring her into the ped’s office and it’s just that, it’s just Alana unfortunately. The great news is that she’s able to stay out of the hospital and we just keep an eye on her. This works out well because she has an ECHO and EKG coming up as well as her patch testing for her allergies. Oh yippee right!
First is her allergy testing and this always makes me nervous. At the appointment I mention the bowel problems and pain she is having so Dr. Demain believes that we need to repeat the whole 21 food panel on her to make sure she’s not responding to wheat, milk, or soy which are known conspirators. This makes me even more nervous…what if she tests positive to those as well as the foods she’s already off; beef, chicken, pork, turkey, corn, carrots, rice, oats, eggs.
The patches go on Monday, off on Wednesday, and then final read on Thursday. No PT this week because they cannot get wet so yes, that also means no shower or bath for this water baby. By Monday night it was apparent that her back was itching and hurting. Argh.
Long story short the final read was typical Alana. Untypical. Dr. Demain could only think of 1 other child that he’d ever tested that was somewhat similar to what was going on. Great news, we tested negative to some foods. Bad news, she tested positive to some new foods. Here was the new list: beef, pork, wheat, soy, barley, rye, oat, & peas. Starting in 1 month we could pick one of these foods to try and reintroduce; rice, corn, eggs, chicken, turkey, & carrots. We could do one food, teaspoon a week over 3 weeks, and watch to see how she responds. *sigh*
You literally win some, you lose some. Up next; ECHO & EKG.
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