Seattle Genetics

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.

We are almost there...

Shaylins birthday was wonderful! Agh, I cannot believe that she’s 9 now!! I don’t know about other families with medically fragile children, but I know for us it has truly affected every member of this house. While Shaylins birthday was a success it also showed us something we suspected was going on with Shaylin; she won’t rock the boat, she won’t speak up about things that she should. What I mean is she is all about trying to please us, trying to please Alana by giving into whatever Alana might be complaining about. Shaylins birthday was a surprise party a day later then her actual birthday was. We noticed that she didn’t even mention anything about not getting a gift or having a party. She was sad, trying to not cry, but just would not tell us what was wrong (even though we knew). Just trying to please everyone and not make a fuss, my little Shaylin.

Things do continue to change around here with everyone. We have been on the search for a counselor to work with us and the girls in regards to Alanas fascination with death, Shaylins inability to speak up and trust her voice, Noelanis unwillingness to acknowledge that she has a sick sister and all those other issues that have come with having not only a chronically ill child, but a child with no diagnosis and more testing then you can imagine. Things due work out finally though and we find not only 1, but 2 counselors who will work with us separately, and then as a whole unit.

In the meantime Alana needs to have another surgery. This one is to remove an enlarged lymph node from her neck that has been enlarged for years. I remember the first time we noticed it, it was actually my mom who did while she was rubbing Alanas neck trying to calm her down from a fit. We took her into the doctors right away but in the end they said it was just from an illness. After a few years and it getting larger with illnesses, larger than a grape, but no smaller then a blueberry it is decided that it needs to come out and be sent for pathology.

After meeting with the ENT, same one who did her tonsils, adenoids, and PE tubes, he asks us about the ear infections she still is having and the chronic fluid behind her drums. He tells me that when she comes back for pre-op in 3 weeks, if she still has fluid behind the ears she will need to have a second set of PE tubes put in. Okay, well wasn’t expecting that but not a big deal. I am more worried about her neck and the fact that she has such a hard time with general anesthesia. Dr. P goes over how this should be an outpatient procedure, she will spend about 2-3 hours in recovery and then should be well enough to go home right after that.

The day of surgery arrives and at least things are going along smoothly. We’ve been there done that so to speak and as long as the anesthesiologist will read her chart and band and see that she’s allergic to A LOT of tapes and stop trying to stick them to her for her IV we should be good to go!

Once the surgery is over they take me back to recovery to see her and she looks good. She’s still sleeping and they’ve got her O2 going. Right before the surgery Dr. P decided that he wanted her to go upstairs to sleep of the anesthesia and make sure she isn’t having any unexpected breathing problems and due to the fact that it's been hours and she is still sleeping.

Once we are upstairs, it again is only suppose to be for a few more hours, things do change. Sigh. She was sleeping and facing away from me so first I notice her SATs drop a bit, not drastic, but enough that I took notice. After a bit of this I go to move her and as soon as I see her face I see a red, swollen, patchy tomato lying where Alana once was. I don’t even move her but open the door and get the nurse in there within 30 seconds. They give her a push of Benadryl and call the doctor. Now we are in for the night for sure. Long story short, this happens all through the night, her SATs drop, her face swells and she has a pale ring around her nose and her mouth, and they shoot her up with Benadryl. By morning when it’s still happening they are starting to wonder if this is a G.A. or tape reaction or is this something else.

We spend 2 days in the hospital and have no idea what happened. She has done this before, the red face and pale ring around the mouth and nose, and it was after surgery. Hmmm another fish in the sea, symptom to wonder about. Once she is home it still happens over the next day and a half. We stop giving her Benadryl because it’s not helping it, what is helping is getting her up and moving around. It really seems to make at least the red and white patchiness go away. Again…hmmm.

Alana continues with PT and OT and as is now par for the course, things keep changing. After about 2 months of PT once a week the decision comes up to move her PT to twice a week in the hopes that we will see a better improvement? Stability in where she’s at? Something? Well the first session of the new sessions (say that 3 times fast!) ends up telling us a lot. Backing up a bit here, after each PT & OT session she’s falling asleep within 10 minutes of leaving each respective session and sleeping for 2-3 hours. Well after 30 minutes in her second PT of the week, Tuesday and Thursday, she was falling asleep in the pool. Well gee, that’s not good. After that PT she slept for almost 4 hours straight, was asleep even before we left the parking lot.

After that it was thought that we should move the PT down to 30 minutes for each session and see how she does; does she sleep less or is she able to stay awake longer? How is she through the session; is she able to function better both physically and cognitively? Well what we see is that she’s just back to where she was with the original 1 hour session in regards to sleep but…she is able to function through the session itself a bit better. What ends up happening is we stick with the 2, 30 minute sessions. It takes 1 1/2 L of O2 for her to be able to keep her SATs up (95%) enough while she’s in the pool but that’s alright, small steps.

Going back to the lymph node biopsy; the results finally come in from pathology and the cultures grew nothing. Go figure. On top of that the path results are the same, benign lymphatic tissue mass. It depends on the day on how I look at this, some days; we put her through another surgery, that didn’t go great, for no good reason. Other days, we ruled out 3 more things that were slight possibilities.

Can you believe we are almost to the present? As I’ve typed this over this past, well almost a year, there seems like so much but yet so little. It might seem like that’s an awfully long time to recount something but think about this--we’ve been on this journey for over 5 years now. There have been so many labs, 100’s and 100’s, CTs, surgeries, months of long illnesses. So, so, many tears, smiles, sleepless nights, and days of "are we going to make it through this"? There is more to come, we are almost there, to the present, but we are not there yet. Next we meet with Seattle Genetics to go over the “new” Alana. The Alana that we are at today.

PT & OT here we come...

Things do continue in the same fashion as they have been, unfortunately. Her baseline is officially changed now from mediocre to crappy. On top of that she is having a harder time with shortness of breath, fatigue, and eating. Even at this point she has not gained back the weight that she lost over this last illness and she’s coughing more. Something new that does come up is a physical therapy evaluation. This is done for a few reasons, her fatigue, the evidence of muscle weakness and/or wasting, and her overall wellness level. We meet with a wonderful PT, Mrs. J, and after a few sessions with Alana she requests that another gal, an OT who works with children who have lung/breathing/heart issues sit in and give her input as well in regards to some issues Mrs. J is seeing in regards to Alana and her breathing issues. I am fine with this because heck, maybe she will notice something that can help.
Here is what they had to say in their report to the doctors:

“Alana is a bright and engaging 5 year old little girl” (okay, had to put that in here that that was the first thing they said =)

“Alana had difficulties coordinating co-contraction of her trunk for stability when attempts were made by therapist to elicit. Endurance is quite poor as a 5 year old child should be able to participate in an hour of sub-aerobic physical activity without immediately falling asleep upon cessation. However this lack of endurance doesn’t appear to be simply due to de-conditioning as Alana tries to be an active child. Alana appears to be a very busy active child with endless energy. However, it seems to this therapist that it is easier for Alana to remain in motion then to do stationary tasks that require core stability and subtle grading of muscle control.”

“Alana does demonstrate difficulties with coordination of her body following several minutes of sustained activity. At today’s evaluation Alana was propelling herself around the pool wearing floatation with nice coordinated movements of her upper and lower extremities initially. However, following 2.5 minutes of sustained activity Alana was no longer able to coordinate her movements and resorted to flailing type movements of her arms and legs to attempt to continue the activity because she wanted to”

“Alana demonstrates 85% open mouthed breathing but with increased demands she closes her mouth and creates a valsalva to increase intrathoracic pressure thereby increase her strength and stability. Her cough is non-productive with limited intra-abdominal pressure. Her mother reports that she will cough so long that she turns cyanotic. When asked to take deep breathes or after breathing increased for activity demands Alana demonstrated paradoxical breathing, this means that she activates her diaphragm on expiration not inspiration, limiting the volume of air she can inspire.”

Summary

Alana demonstrates:
1. Significant low tone especially abdominal muscles, also indicated by mild rib flares.
2. Mild to moderate dysregulated autonomic nervous system: indicated by inconsistent pulse, oxygen saturation levels not tied into activity needs, erratic temperature regulation and breathing pattern (several quick/shallow breathes and then large breath).
3. Inefficient breathing patterns. The diaphragm, intercostals, external/internal obliques, rectus abdominis are the predominant muscle in efficient breathing patterns doing approximately 60% of the work, while accessory muscles such as the paraspinals, pectoralis muscles, serratus anterior, scalenes, SCM, and trapezius are recruited for increased oxygen needs. Alana also demonstrates paradoxical breathing.
4. Possible undiagnosed venous return disorder. Red flags include constant movement without sensory seeking quality, desaturation without movement, and sitting down/flailing limbs with fatigue.

They did her SATs before and after PT and before (without O2) she was at 94%, after she was 86% and stayed that way for awhile. This was a very clear indication to us that she needed to be on O2 more than we had been putting her on it. This report went to her doctors not only here, but in Cincinnati as well. Within a day we heard from the pulmonologist in Cincy to discuss this “significant change in her status” in regards to her O2, muscles, and fatigue. Well HELLO! We’ve only been telling you she’s been having these issues for almost a year now!

Things do come of this though; Alana is put on O2 with activity and during PT and OT (OT was recommended as well due to her sensory issues—screaming, hands over ears, fight or flight reactions to car washes, some restaurants, music class, etc. and tactile issues to clothing and other), she is now going to PT once a week and OT once a week for an hour. The plan is that once her strength is increased that we will start working with the other OT in regards to her breathing issues to try and get her to utilize her lungs better, maybe in about 3-4 months is the goal.

I’d like to say I was surprised with what the OT & PT tell us, that she has the emotional maturity of a 2-3 year old, that she is hypotonic (low-tone), her O2 needs were greater than we appreciated, and that she needs long term, 12 months or more, of PT services. I would like to say that I didn’t see any of those things but I did. I just couldn’t seem to make them better for her—again.

There are still new things going on with her every month. It’s all day by day and minute by minute. She is such a strong and smart little girl, totally like her sisters in those regards. Rock stars the whole lot of em! We are finally to the end of February and we have Shaylins birthday in March to look forward to and boy, are we looking forward to some normal fun times! We all need a break and if all goes well Shaylins party will just be the ticket for that.