Saving Baby Connor!!
Introducing Baby Connor Paul Edmonds
Our son, Connor, was born on 13 May 2013. He is a beautiful little boy that was sadly diagnosed with an extremely rare (occurs in less than 1 in 100 000 pregnancies), life threatening, metabolic condition called Hypophosphatasia (HPP). Connor is diagnosed with a severe, perinatal variant of Hypophosphatasia, which is evident in his profound skeletal hypomineralisation and respiratory compromise. On the day of his birth, a most joyous occasion, we were devastatingly informed of the dire prognosis, and the fact that there was no cure! Connor has since spent every day of his life in the very same hospital he was born in.
What is Hypophosphatasia
Hypophosphatasia is a tissue non-specific alkaline phosphatase (TNSALP) deficiency, and is characterised by defective bone mineralisation and impaired phosphate and calcium regulation that can lead to progressive damage to multiple vital organs including destruction and deformity of bones, profound muscle weakness, seizures, impaired renal function, and respiratory failure. The genetic deficiency in HPP can affect people of all ages. HPP is traditionally classified by the age of the patient at the onset of the disease. Patients with perinatal-onset HPP manifest their first signs of disease in utero or at birth. This form of the disease is usually lethal and often leads to death in-utero. Those children who survive birth often have severely compromised respiratory function. More information on HPP can be found on http://softbones.org/content.php?140 and http://en.wikipedia.org/wiki/Hypophosphatasia.
Current Care
Connor is currently being cared for at the Neonatal Intensive Care Unit of Olivedale Clinic by Dr Klaus Leschner and a compliment of dedicated nursing staff. He is in a stable condition, but does require Oxygen and has special feeding requirements. Unfortunately, there is no treatment of the condition available in South Africa. Despite their most valiant efforts, the Doctors and Nursing staff of the Olivedale Neonatal ICU can merely treat or manage the side effects/symptoms of the condition and not the root cause of the enzyme deficiency itself. At best, they can try to make Connor as comfortable as possible and manage his pain, but ultimately will only be able to stand by and watch him deteriorate.
A New Hope
Due to Connor’s terrible prognosis we consulted with one of South Africa’s best metabolic specialists, Prof. John Pettifor, and began scouring the Internet the any chance at saving Connor. This led to the discovery of an almost miracle cure. The cure is in the form of a clinical trial drug developed by Alexion Pharmaceuticals. This cure, Asfotase Alfa, has to date, been administered to eleven children of varying ages, with varying severities of the condition, with all patients not only showing signs of getting better, but also of the effects of Hypophosphatasia being reversed. It is currently in the trial phase in three separate facilities around the world. Asfotase Alfa is an investigational, highly innovative, first-in-class targeted enzyme replacement therapy. Asfotase Alfa is designed to address the underlying cause of HPP by normalizing the genetically defective metabolic process, and preventing or reversing the severe and life-threatening complications of life-long deregulated mineral metabolism. The early administration of Asfotase Alfa has, so far, demonstrated remarkable results in children treated in the program thus far. An article on how Asfotase Alfa helped other youngsters in need, can be found at http://abclocal.go.com/kabc/story?section=news%u00252Fhealth%2Fyour_health&id=8786028
Some Good News
Connor has been accepted into the American clinical trial provided by Alexion. Alexion has graciously confirmed their willingness to cover all the clinical trial costs, along with travel costs for Candice and Connor to the US, as well as lodging for Candice whilst in the US. However, due to regulatory concerns, they have also indicated that they cannot provide assistance with Connor’s non-trial specific costs (general care) whilst in the United States (i.e. NICU bed, Oxygen, Paediatric visits). Due to Connor’s current state of health, this general care would be in the form of a three month inpatient stay at the Neonatal ICU facility at the Children’s Hospital of Pittsburgh.
But…
Our Medical Health Scheme, Discovery Health, has thus far declined every request we have made for assistance in saving Connor’s life. All that is required from Discovery is an assurance to Alexion that the general care stated above will be covered whilst aboard. Unfortunately, they have refused to give any such assurances. It would seem that they are more than willing to pay for Connor’s NICU stay without a chance of a cure in South Africa, until he finally succumbs to effects of the condition, rather than grant the cover for a three month period overseas, to enable the administration of the lifesaving drug he so desperately needs, and reverse the affects currently taking their toll on his little body.
We have been a part of Discovery since 2008, and prior to that 10 years intermittently, and yet they still refuse cover that will almost assuredly save Connor’s life. The initial care required was declined by Discovery, on the basis of our current plan only covering overseas care in the case of an emergency. One would think that the saving of a child’s life, and the prevention of a terribly painful existence, would qualify as an emergency in everybody’s eyes.
As a possible solution to this problem, we then suggested upgrading to a plan that could offer the cover so desperately needed – to this Discovery responded that we could do so in December and not before then. Considering the fact that Connor battles for survival on daily basis, this was neither appropriate nor acceptable.
We then applied for a PMB benefit, which was declined without anyone from Discovery even bothering to notify us.
Our last chance was to make an ‘Ex Gratia’ application for the funds/cover required. After two weeks of waiting, Discovery, once again, declined without so much as an explanation or any alternate options/suggestions for assistance to help with Connor’s current predicament.
Where To From Here
The fact of the matter is that we simply do not have the funds available to save our beautiful baby boy, Connor. The initial cost indications given by the overseas hospital is approximately R2 000 000.00. This plea is to request any assistance possible or raise the necessary funds to save Connor’s life. The sooner Connor is able to start the Asfotase Alfa treatment, the sooner his risk profile will start to normalise. This will in turn, no doubt save his life and also begin to reverse the effects of Hypophosphatasia and its associated issues, which continue to take their toll on Connor’s little body.
Our Little Fighter
We have no doubt that this treatment will surely save Connor’s life. Our little fighter has fought bravely on through this terrible condition and all the issues that are tethered to it. In addition to this, Connor contracted a Respiratory Syncytial Virus a week after birth, and was able to struggle through that set back as well. Against all odds he recovered from the RSV, and has steadily, day by day, become stronger and more stable. He has started to gain weight, his skin colour has normalised, and his dependency on Oxygen has lessened. Our beautiful baby boy is a fighter who wants to live, and we have every faith, that given this opportunity, he will grow up to live a long and fruitful life.
In Conclusion
In short we are asking that you grant two parents the most unbelievable wish, and answer our prayers, by helping us to get the NICU bed he requires to start the treatment he so urgently needs – in short we are asking you to help save his life.
It would be the most unbelievable injustice to throw away this precious gift of life, granted by Alexion, through Connor’s acceptance into the clinical drug trial. He has gone from a prognosis of having no cure, to now having the chance of a normal life, through a miracle drug that has garnered huge amounts of success. It would simply be a sacrilege to squander such a unique, lifesaving opportunity.
We love our precious bundle of joy dearly and we hope and pray that you are able to help in whatever way you can. We ask simply, that you look into your hearts, and try to see a way forward that you may help us to fulfil this wish and save our precious baby boy, Connor.
If you feel that you are willing and able to assist us in our plight and help save Connor’s life, please do not hesitate to contact Sheldon or Candice, Connor’s devoted parents.
Thank you.
Connor’s loving, always hopeful parents,
Sheldon (082) 9208949, sheldon@alphatech.co.za and Candice (082) 3371715, candice@beautifulbrides.co.za)
Please join us for this great fun fundraiser
ALL profits will be going to
“Save Baby Connor”
(www.saveconnor.co.za)
Date: 27th July 2013
Time: 17:00
Place: Gateway Village (van Dalen rd, Ruimsig, Roodepoort)
Cost: R120 per adult, includes dinner
(R60 per child under 12)
Please rsvp by 24th July 2013 for catering purposes
Cash Bar will be available
Please make payment to: Northridge Ladies Circle No 7
First National Bank, Branch: Cresta (Code: 254905). Account no: 5144005017
