Mitochondrial DNA Deletion
by Shlomo Y.
Sunday, December 12, 201028th Shvat, 5769 (February 22nd, 2009)
To Whom It May Concern:
Moshe is the seventh out of 14 children in our family. He is a smart, talented and sweet child, who learns in a regular mainstream class, which involves the many difficulties detailed below. We are trying to help him as much as we can, even though we are quite limited.
Since one year of age, Moshe has been suffering from mitochondrial DNA deletion. This syndrome expresses itself in a very harsh disease, called Kearns-Sayre Syndrome, which affects many aspects of the patient's body and functioning. At the age of one year, the disease caused a sever problem of blood clotting, which became life-threatening. Moshe's hemoglobin levels went down to between 5 and 6, and he needed to have blood transfusions each month, as well as to take steroids for a year. During this time, the diagnosis had not yet been confirmed, and we thought at the end of this year that the worst was behind us.
More than 6 months later, he started to experiences severe hypoglycemia. His glucose levels dropped to the minimal levels of between 10 and 30. It was so severe that Moshe lost consciousness. He was hospitalized for extended periods of time, and underwent harsh tests to determine the cause of the hypoglycemia. Throughout the year our spirits sunk so low, until we got to Shaarei Tzedek Hospital, where we met Professor Alfalag, who assessed the symptoms and properly diagnosed the disease. Since that time, when Moshe was 3 years old, he has been through some very difficult periods, some less difficult, and some even calm.
Moshe suffers from a lack of functioning in his adrenal glands, for which he needs to take medication daily, and the amount of calories he consumes need to be monitored accordingly. Because of the disease, he suffers from nausea and vomiting, and he is not able to be fed through his moth. Instead he has a feeding tube called a Gastrostum. Today he eats Ensure Plus, 5 to 6 cans a day (which is partially subsidized by our healthcare plan), and in the past he was drinking organic baby formula.
About a year and a half ago, during one of his losses of consciousness due to his severe hypoglycemia, it was discovered that Moshe has a problem with his heartbeat, and he had to undergo a procedure whereby a pacemaker was inserted. He needs to be monitored with EKGs and Heart-Ecos every 3 months.
During this last period, Moshe's hearing declined sharply, and he needed to start using hearing devices. (He needed special small equipment that was extremely expensive, as explained in the attached letter.) He also suffers from severely impaired eyesight.
All of these medications and treatments cost us a fortune of money, because our healthcare provider only covered a small part of the cost.
In addition, while undergoing all of these treatments and tests, and because of his physical weakness, Moshe often missed many days of school. We therefore had to hire a private teacher to help him make up the work that he missed, and to stay at his grade level. This teacher also charged an exorbitant amount of money. Also because of Moshe's weakness, all of his traveling to and from the hospital has cost us a tremendous amount in traveling expenses, taxis, and other such things.
Aside from all of this, we try to provide Moshe with some pleasant experiences, to help balance out all of his difficulties, and to improve his quality of life, especially because he is unable to participate in outings and special activities in school due to his physical weakness.
The critical topic that is facing us now is regarding hormonal growth, which our son will need urgently very shortly. Because of his disease, he is not growing properly, and is extremely short, relative to his age. (He is 12 years old, and appears to be no more than 8.) This (in addition to all of his other problems,) causes him to have a negative self-image and low self-esteem. Therefore we have decided, after consulting with his doctors, to start treatment for synthetic hormonal growth. The cost of the treatment is expected to be enormous- approximately $50,000 over the next 4 to 5 years, during which Moshe will need to receive a daily injections which cost between 100 and 120 NIS each. (To our dismay, this is not covered at all by the Healthcare Ministry.)
Thank you for your consideration, and with best wishes for the fulfillment of the verse, "ו�”סירותי מחל�” מקר�‘ך � I will remove all illness from your midst.”
Shlomo Y.
