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Monday, September 1, 2008

Megans Story

Megan was born October 17, 2006 after a healthy pregnancy and delivery. Pat and I were so excited to have a daughter. Her brothers, James & Ryan, were also hoping for a sister. The only complication we had was Meg failed the newborn hearing test which is quite common among newborns. Most pass on the next screen about 2 weeks later. Not Megan – at about 3 months old Meg was diagnosed with a sensioneural bi-lateral hearing impairment which is severe in one ear and moderately severe in the other. Right around this time we also noticed some odd facial expressions that concerned us. A neuro consult was scheduled that took place in March(first available appt.). This is when the rollercoaster started. By May she was having at least 8 siezures a day and her GERD was horrendous. It was so severe I was afraid to sleep (the little time that she did sleep at night) in case she choked to death on the clear mucous she was refluxing or had a seizure that might leave her dead. She was now about 7 months old, cried continuously. She had and still has failed to meet ANY developmental milestones confirming my early suspicions yet to be taken very seriously by medical professionals. Finally in June the siezures were captured on EEG (2nd hospital stay in 2 months & she was also diagnosed with a cortical visual impairment, likely as a result of seizure thought to be occurring by the hundreds each day. Now the Doctors were puzzled because she did not have any dysphormic features and had so many symptoms and so far the genetic testing had been normal. Several horrible diseases were presented to us and the unknown was so stressful along with managing every day life. Megan's body was there, but her mind was absent. Rigorous therapy was not helping either. In July a muscle biopsy was done as Mitochondrial Disease ( was suspected. Getting the results was torture. I showed up for 3 appointments to review them, waited for a few hours in the waiting room with a screaming baby only to find out the doctors office had not secured the results from the lab yet even though they were in. In September I see another Doctor that we traveled for 3 hours to get to who when hearing the story calls the lab and instantly retrieves the results and tells us Megan has a Mitochondrial Disease and we should see an actual Mitochondrial Specialist. There are very few of these in the country. After scheduling with the team in California – twice – plane reservations and all, they cancel both times for scheduling conflicts. I decide that that does not feel good to me and we decide to go to NY to the specialist there. It is now December. Megan and I go to NY to get the exact mito disease diagnosed by the "mito" specialist & this Dr. was not so confident in the biopsy report & we then had more extensive genetics workup - all coming back normal in April. What a process!! Her MRI showed delayed myelination(white matter). MRS(brain study) revealed elevated lactic acid levels and abnormal metabolic ratios. Only lab that was off this time was increased lactic acid in her metabolic panel. Through this time she has been chronically sick, not responding to antibiotics for bacterial infections unless she is treated with Roceffrin by injection only. Cause of illness can not be found - every 3-4 weeks we go through this. She has intolerable back pain that hurts to move her with high fevers - not good for a child with siezures. She also has a GTube(feeding tube) that was placed in Feb. 08 for failure to thrive as she had not grown in almost a year.. She eats by mouth but is not advancing through this normally either. Her caloric intake by mouth is sufficient for her to be growing and thriving, but for some reason she is not. Now that she has the tube, we can see how long it takes her to digest food - hours.....not normal. I would be sick too. Her GERD has always been terrible and gets better with the tube in place and she also starts to grow with the supplemental nutrition we feed her through the bag and tube at night. She is still small for her age, but catching up. Her awareness also seems better to me, visually & mentally. Obviously her body has not been processing the calories she was getting properly and now that she is getting some extra (which would make most kids obese) and starting to come alive it is very apparent that her body is not metabolizing food properly. After she started receiving her medications through her gtube we noticed a decrease in her seizures.

In the end of May we return to New York for a follow up and to find out what is next. We are told Meg will probably never walk, talk or have the ability to even sit up. Her immune system is weak and susceptible to infection which can be serious. A common cold could be fatal to her if her system can not handle it, and her life span will depend on these facts along with the quality of her every day care. The future for Megan looks bleak with no quality – confinement to a wheelchair with no purposeful use of her limbs, almost deaf and very visually challenged and dependent upon GTube nutrition to thrive. As you can imagine we were devastated & still have not shared these facts with her brothers. We feel that there is nothing positive to gain by burdening them with this. They don’t need adult burdens so young.

A day after the news Pat and I discusss how God is the only one who really knows the outcome and we continue to believe God and Meg's angels(I know she has them!) will guide all of us through this. We love Megan so much & are truly blessed to have been chosen as a family for such a beautiful, special little girl. I have come to realize things most can't-like the importance of the little things in life that seemed to whiz by me before. The smallest improvement or accomplishment by Megan are huge for us and for her. Most people would not even notice them. I also dont take each day for granted anymore. Holding her is the best feeling in the world – different than I can explain - & I am grateful that I am able to have that feeling.

We are considering revisiting the muscle biopsy as there is so much controversy in the information and diagnosis we have received from quite a few specialists. Having another muscle biopsy will not result in a cure, just more information so we are being cautious, especially because anesthesia is not good when you have a neurological or metabolic condition.

I have had Mitochondrial Disease Diagnosis confirmed and disputed depending on what specialist you speak to. There is so little known about the mitochondria and it is just coming to the forefront now. There is not any public research funding or grants and it is all private due to the rarity of the disease. What we know about it now is it is not curable, it is progressive and degenerative. Other than symptomatically managing pain and symptoms, basically when a child has the issues Megan has your child is put into a box and is left there until the inevitable. Cytochomre C Oxidase Deficiency Complex IV is the official “name” that was on her muscle biopsy. It is an electron chain transport issue. Mitochondria are the power house of your metabolism converting your food to ATP that is used for about 90% of your energy.

In summary she has a rare genetic disease that is progressive and to date has no cure or medically recognized treatment other than to treat the symptoms It is a neuromuscular and metabolic causing siezures, global & chronic developmental delays, and bi-lateral hearing and vision impairments. The metabolic part affects her immune system and the GI tract requring a GTube for nutrition to thrive. She also suffers from muscle weakness and fatigues easily. The only part of her system not subject to failure as we know right now are the red blood cells.

In June Megan and I left home for a month to try a possible treatment which does not have FDA approval for treatment of her specific condition/symptoms, but it is approved to treat various other conditions. Hyperbaric Oxygen Therapy has yielded positive results in many children with what is referred to as brain injury commony. Along with the HBOT( Hyperbaric Oxygen Therapy) you combine an Intensive Physical Therapy program to train the body in conjunction with “waking up” the dormant areas of the brain.

It was pretty tough on our whole family – physically, mentally and financially as insurance covers none of this type of treatment. Each round is about $10,000 not including any travel expenses. My husband and 2 sons, James age 12 and Ryan age 6 stayed at home. Every day brings new and different challenges for us as we find a way to try to function normally through all of the ups, downs, doctor visits, pt visits, etc. Thankfully we are still happy and keep finding we have strength we never knew we had. Another thing Megan has taught us.

Last week we ordered and received a “portable” HBOT chamber so that we can maintain the gains Megan made with our trip to Wisconsin and hopefully see some more improvement. The portable chamber is not as effective as the “hard” chambers in the clinical setting due to the amount of pure oxygen and the pressure level being less in the portable chamber. It is most effective to utilize both components though because you can not continually use the hard chamber as you would develop oxygen toxicity and you won’t see the gains in the portable chamber alone.

Some people would think why try something that is not guaranteed to help. I think, why not? And what is guaranteed in life other than each morning when Megan wakes up, God gave her and us another day. There is nothing that the doctors can provide so we can only go up. We also could not live with ourselves if there was a possibility that this could help and we did not try it. I think most physicians and parents who debates the success of this would feel differently if they had a child in this situation. The closest family members have difficulty understanding as they can not relate to what really is going on.

Today as I write all this I am sitting in a surgery center. Megan is undergoing yet another procedure and tomorrow I will be at Tower Diagnostics because she needs a PET Scan of her brain to show the dormant areas. This will be the only way to track if Hyperbarics is helping other than observation.

I see that she is making some progress with this so we will keep going forward as long as it is working. As parents you know your children better than anyone and I know our little girl is stuck inside of a body that wants to get places and we will provide every opportunity to enable her to do that and maximize the quality of her life.


dyana said...

I send you heartfelt prayers for Megan and your family. I am an HBO Technician in Florida and have seen improvements in many of my patients in "off label" treatments. Stick with it. It takes time for the body to heal, and you are giving Megan the atmosphere that heals. Be certain to throw in Physical Therapy with a PT who specializes in neurological disabilities. As the brain comes back, it must be retrained, it also may have assigned functions to other parts of the brain (known as plasticity), which also needs retraining. We have a center that combines the two and specialized in neurological disorders.

FYI- ammo to answer the naysayers and skeptics- HBO Therapy is FDA approved for 14 conditions in the US but when you look at other advanced countries with socialized medicine like the UK for example, it is approved for many more conditions. The scientific evidence of efficacy is there, but there is no patent on Oxygen to fund a double blind placebo trial for every condition it is effective for. The conditions it has been approved for are cost effective for the insurance companies, like wound healing to avoid surgical amputation which costs over $100,000.

Most doctors aren't taught in medical school what it can do for other conditions because it has not gone through the trials. They are scientists first! However, there is plenty of proven documented evidence that it is working for many other indications, especially neurological diseases like mitochondrial disorder, parkinsons, Lyme and MS to name a few. There are many physicians out there that are learning about it and open to it for the benefit of their patients, so we'll get there. In the meantime keep the faith, if there's a will there's a way, and I think you have found it. Just keep it up and you'll see the results. She has had problems for two years, so it may be months of treatments, but hopefully you'll see gradual improvements in Megan. It seems like she is a fighter and she is fighting to come back to you.

There is no smaller prison than that of the human body when it cannot function.

Wishing you and Megan, her father and her two brothers peace.


Terri said...

Thank you for the reassurance! I dont know where in Florida you are - we are in Tampa. I am using the intensive PT/OT for her and am amazed at how fast this works in lieu of traditional PT/OT. There definitely is synergy with the two combined!!