Mitochondrial disease awareness week September 14 - 20 2014!
My awareness is life long as with many that I have met through Elijah's short journey.
Chad and I were devastated when our first pregnancy ended in miscarriage we tried for nearly 2 years and were overjoyed to learn I was pregnant again. This pregnancy was perfect with a slight complication with gestational diabetes however I was able to control it with diet.
My Elijah was born perfect! February 15, 2003 6lbs 8oz sweet baby boy. In the first few weeks he had surgery for pyloric stenosis. We were new 1st time parents and thought that would be the worst our little boy would go through. A couple months went by and Elijah seemed to be growing and hitting his milestones then he wasn't! His eyes would not fix and follow on an object. Knowing that I suffered with a condition with my eyes when I was younger I wanted it checked out ASAP. The eye dr referred my sweet 4month old to a neurologist after he suspected it was a problem with his brain not the eyes. Of course the appointment was months away. Many things would take place before that appointment would ever come.
Elijah was growing slowly and seemed to be nursing ok then one day began to gag like he couldn't swallow. This continued through many of his feelings. Within a week he was dropping weight, looking frail and sickly. I dropped in a store for nursing moms that had a scale. Now I was very alarmed his weight was considerable less than his last dr check up. I was shaking, I called the dr to get him. When we arrived the nurse assured me everything would be fine. It wasn't fine nor would it be fine.
Children's hospital Denver is where our pediatrician referred us. He was uncomfortable with Elijah's weight loss and other signs of lost milestones. We sat in a small ER room waiting for help. My almost 6month old no way to soothe him. A CT scan showed "significant insult" in his brain specifically to his basil ganglia. What? What would this mean for him and us.The gagging was his ability to suck and swallow weakening because of the damage that already had occurred. He had an NG tube place so he could get his nutrition. Over the next few days, very difficult days we would talk to so many specialist I cannot remember how many or what their specialties were. In and out they paraded! We knew our son would have special needs just not the entire picture.
There we stood around Elijah's hospital crib discussing Mitochondrial diseases and one called Leigh's syndrome. Interesting that a note on the original CT scan taken that very night said suspected Leigh's syndrome. I guess they needed to make sure before they told us. All I really heard at that moment is life expectancy is normally 2years. This could not be true my little baby, wanted, prayed and waited for was dying. We were not just off to a Rocky start to parenting we were living a nightmare.
Leigh's syndrome or medically known as subacute necrotizing encephalomyelopathy was a horrible diagnosis. It is a progressive disease that would continue to cause parts of Elijah's brain to die. White matter could already be seen in a large area. The neurologist simply said "take him home and love him" that is what we did.
We would not see much of the Doctors and hospitals after that just for check ups, vaccinations and to watch his progression. None of which would change his prognosis. We kept him home on hospice where he could live peacefully or as best we could provide.
Leigh's disease in Elijah they say was text book. There was nothing about him that was text book to me, he was my son a living breathing child. I watched this disease progress and all the abilities my son did have were gone. I cannot even remember the exact time he stopped crying. It isn't that he didn't want to but he couldn't cry any longer. Even the most primal abilities died as the damage in his brain progressed . It was difficult knowing the end would be soon. Anger, resentment and frustration were knocking at my heart! Living my life caring for my son I did my best to keep it out. We had no idea what the future would hold, we only knew our son needed us. I learned to just put my faith in The Lord he would carry me/us and for what I did not know he would take care of. We tried to do all we could with and for our son. We had to reach deeper for the joy but when we found it it was bountiful.
Through Elijah's life I felt a peace and closeness to The Lord. To hold my son was an enormous gift. To feel the lords peace through him was a feeling I cannot describe. He was fed through a g-tube, countless seizures a day, had his own cupboard for medications, could not walk, talk or communicate like most of us could yet this little boy was the most amazing kid and I got to be his mom!
Elijah died November 25th 2005 the day after thanksgiving that year. He was just 2 1/2 years old.
Through Elijah's life I learned my life's verse proverbs 3: 5-6
5 Trust in The Lord with all of your heart, lean not on your own understanding 6 In all of the ways submit to him and he will lead your paths strait.
In the 11 years since I had Elijah my journey always seems to be grounded with this verse! I cling to it in the darkest times and it shows me where the light will come from when it shines and it does come!
I also wanted to share information on Leigh's syndrome. I try not to dwell on the text book stuff but it is sometimes the only way for people to understand. I did find that to google "Leigh's syndrome" when Elijah was diagnosed and then today 2014 was a completely different experience. Back then it was as if we were alone in our experience with this ugly disease now with all the information and social media families have an easier time connecting and finding the much desired knowledge when your child is diagnosed. Even so I don't think the prognosis has changed much.
Contact UMDF for information and support at 888-317-8633 or connect@umdf.org
What is Leigh's Disease?
Leigh’s Disease is a progressive neurometabolic disorder with a general onset in infancy or childhood, often after a viral infection, but can also occur in teens and adults. It is characterized on MRI by visible necrotizing (dead or dying tissue) lesions on the brain, particularly in the midbrain and brainstem. The child often appears normal at birth but typically begins displaying symptoms within a few months to two years of age, although the timing may be much earlier or later. Initial symptoms can include the loss of basic skills such as sucking, head control, walking and talking. These may be accompanied by other problems such as irritability, loss of appetite, vomiting and seizures. There may be periods of sharp decline or temporary restoration of some functions. Eventually, the child may also have heart, kidney, vision, and breathing complications.
Leigh's is caused by more than one defect.
According to Dr. David Thorburn, at least 26 defects have been identified. These include a pyruvate dehydrogenase (PDHC) deficiency, and respiratory chain enzyme defects - Complexes I, II, IV, and V. Depending on the defect, the mode of inheritance may be X-linked dominant (defect on the X chromosome and disease usually occurs in males only), autosomal recessive (inherited from genes from both mother and father), and maternal (from mother only). There may also be spontaneous cases which are not inherited at all.
Estimation of Incidence
One estimate of the incidence of Leigh’s disease (Leigh Syndrome: Clinical Features and Biochemical and DNA Abnormalities by Dr. David Thorburn, PhD of Melbourne, Australia) is one in 77,000 births or one per 40,000 births for Leigh and Leigh-like disease (a milder version of the syndrome, often not proven by imaging or autopsy). However, this may be an underestimate since mitochondrial diseases tend to be under-diagnosed and misdiagnosed.
Treatments
There is no cure for Leigh’s Disease. Treatments generally involve variations of vitamin and supplement therapies, often in a “cocktail” combination, and are only partially effective. Various resource sites include the possible usage of: thiamine, coenzyme Q10, riboflavin, biotin, creatine, succinate, and idebenone. Experimental drugs, such as dichloroacetate (DCA) are also being tried in some clinics. In some cases, a special diet may be ordered and must be monitored by a dietitian knowledgeable in metabolic disorders.
Prognosis
The prognosis for Leigh’s Disease is poor. Depending on the defect, individuals typically live anywhere from a few years to the mid-teens. Those diagnosed with Leigh-like syndrome or who did not display symptoms until adulthood tend to live longer.
