Marias URGENT cervical spine fusion

With your help Maria can take a giant step …

( Letter from Marias parents)

Maria Shahid, our beautiful five-year-old daughter suffers from Morquio Syndrome, a Rare Lysosomal storage disorder of genetic origin also known as Mucopolysaccharidosis type IV.  This is a complex syndrome that entails skeletal dysplasia resulting in short stature, general skeletal deformity and progressive deterioration of several organs such as heart, trachea, liver, spleen, cornea as well as degenerative damage on neurosensory skills such as vision and hearing.

There is no cure for Maria’s disease and she now requires a major surgery, in order to improve her quality of life that will allow her to continue to walk, to delay the use of a wheelchair and live as healthy as she can.  Currently our daughter is suffering from Cervical Spine instability, (Atlanto-axial instability) her vertebrae bones are loose because of the disease causing spinal cord compression that is becoming more severe and will make her lose the ability to walk in the short term, given the neurological damage caused by the compression.

Maria needs a complex surgery to decompress her spinal cord and fuse the bones of her cervical spine with a bone graft and wear a metallic halo attached to the skull and trunk for 3-5 months until the bone graft and is healed and the cervical spine is fused.

If Maria is left untreated, the spinal cord compression will keep progressing and there is a high risk of spinal cord damage, which causes weakness, irreversible peripheral neuropathy, tetraplegia, severe respiratory failure and her life spam will be restricted. We are against the clock, our time is limited.

Considering how rare is the disease, there is virtually no experience in Pakistan on the surgery that Maria requires, her best options today are Nemours Alfred Dupont Hospital in Delaware, United States, which is a medical center with widest experience worldwide in this pathology and the surgeon Dr. Willian Mackenzie, whom is one of the most experienced pediatric orthopedic surgeon for this specific disease. This surgery requires a interdisciplinary and specialized team, such as Anesthetists to manage a very narrow airway, physical therapy during 5 months and Special nursing skills are required for the postsurgical care.

Maria’s surgery is pending to be scheduled until we can fundraise a total of US$100,000 which we are unable to afford on our own.

After much thought, my wife Salma and I have decided to share with you our wish to preserve and improve Maria’s quality of life.  We have no choice and are in desperate need to focus all our efforts so Maria can fight this disease and be able to walk, play, have a happy childhood and life.

We humbly request the support from your institution for our daughter to prolong her ability to walk and live autonomously before her condition forces her into a wheelchair and deteriorates her quality of life.  We will not give up until we achieve our objective:  keep Maria standing, walking on her own feet and alive. 

Blessings to you and we count on your support.
 
Please help us on anything you can on:

https://www.gofundme.com/MariaShahid


Sincerely yours,

Shahid  Ullah and Salma Shahid

Morquio Syndrome Information Resources:

1)   
http://rarediseases.org/rare-diseases/morquio-syndrome/  
2)   
http://www.morquiosity.com/
3)   
http://mpssociety.org/mps/mps-iv-morquio/
4)
https://www.nemours.org/service/medical/skeletal-dysplasia/morquiosyndrome.html?tab=about

 
Letter from the creator of this fundraising:

English:
(Texto en Español mas abajo)

My name is Titti Smeby, a Norwegian citizen living in Mallorca, Spain.
I have a son with a very rare disease called Morquio syndrome (MPS IV A).
There is no cure for this horrible disease that affects all vital organs, muscles and the bones, but there is a treatment which has an enormous positive effect on patients suffering this disease. I know because my son is receiving this medicine called Vimizim made by BioMarin. In only 6 months my son is almost like a new child. For us this medicine has been our miracle and we are forever grateful for the people who care and the amazing medical staff who look after us.

I have lived with this diagnosis for almost one year now and during these months I have learned to know a lot of lovely people around the world in the same situation.

Each and every one of them have their unique story, and each story is heartbreaking.

But there is one story that have affected me a lot more than others. It’s the story of the sweet 5-year-old Maria...

Maria is almost the same age as my son, but she was born in another part of the world. She is not getting the medical care she needs, and Vimizim is a distant dream…(yet to come true).

One of the most important issues the medical profession monitors on patients with Morquio syndrome is the spinal cord. The spinal cord grows, but since the skeleton does not, a pressure is created. It is VITAL to go through surgery when this happens.

In my sons case, the doctors are monitoring the situation and when its time he will go through this substantial cervical / neck fusion.

Maria was recommend this surgery SIX months ago... Her father has been fighting to get it. But it is absolutely impossible to perform in her home country of Pakistan.

Maria is in DESPERATE need of this surgery. We need to fund the surgery and the cost is more than 70.000 USD plus travel expenses for her family. I cannot stress the urgency enough.

Please, please help me help Maria and her family.

I remember the panic I felt when I didn’t know if my son would get the treatment Vimizim. I share Shahid and Salma’s (Maria’s parents) fear, stress and desperation. I will fight for Maria’s life like it was my own child.

Maria deserves to live, just like any other 5-year-old.

What would you do if Maria were your child? Your niece? Your best friends daughter?

If you can help us by donating money, please do. EVERY little helps.

If you cannot donate, please help us to spread Marias story.

I am 100% sure there are people or companies out there who can help us save this little girl.

I still have faith in the human race. Do you?

Best regards from Titti





Español:

Mi nombre es Titti Smeby, soy de Noruega pero vivo en Mallorca, España.

Tengo un hijo con una enfermedad muy rara llamada síndrome de Morquio (MPS IV A). No existe cura para esta horrible enfermedad que afecta a todos los órganos vitales, los músculos y los huesos, pero hay un tratamiento que tiene un enorme efecto positivo en pacientes que sufren esta enfermedad. Lo sé porque mi hijo está recibiendo este medicamento llamado Vimizim de BioMarin. En sólo 6 meses mi hijo es casi como un nuevo hijo. Para nosotros este medicamento ha sido nuestro milagro y siempre estamos agradecidos por las personas que cuidan y el personal sanitaria que cuidan de el. He vivido con este diagnóstico por casi un año ahora y durante estos meses he conocido a muchísima gente encantadora por todo el mundo en la misma situación.

Todos y cada uno de ellos tiene su historia única, y cada historia es desgarradora.

Pero hay una historia que me han afectado mucho más que otros.

Es la historia de la dulce Maria de 5 años... Maria tiene casi la misma edad que mi hijo, pero ella nació en otra parte del mundo.

Ella no está recibiendo la atención médica que necesita, y Vimizim es un sueño lejano... (por ahora).

Uno de los temas más importantes de vigilar en pacientes con el síndrome de Morquio es la médula espinal. La médula espinal crece, pero el esqueleto no lo hace, y con el tiempo se crea una presión. Es VITAL pasar por cirugía cuando esto sucede.

En el caso de mi hijo, los médicos están controlando la situación y cuando toca tiene que pasar por cirugía substancial.

A Maria le han recomendada esta cirugía hace ya seis meses... Su padre ha estado luchando para conseguirlo. Pero es absolutamente imposible de realizar en su país, Pakistán.

María está en desesperada necesidad de esta cirugía.

Necesitamos financiar la cirugía y el costo es de más de 70,000 USD, más los gastos de viaje para su familia.

Y es muy muy urgente.
 
Por favor, ayudarme a ayudar a María y su familia.

Recuerdo el pánico que sentí cuando no sabía si mi hijo recibiría el tratamiento Vimizim. Comparto Shahid y Salma (padres de María) miedo, estrés y desesperación.
 
Lucharé por la vida de María como si fuera mi propio hija.

Maria merece vivir, al igual que cualquier otros 5 años de edad.

¿Qué haría usted si Maria fuera su hijo? ¿Su sobrina? ¿La hija de su mejor amigo?

Si puede ayudarnos donando dinero, lo agradecemos mucho. Aunque solo un poquito.

Si usted no puede donar, por favor ayúdenos a difundir la historia de Marías.

Estoy 100% seguro de que hay personas, fundaciones o empresas allí que nos pueden ayudar a salvar a esta niña.

Todavía tengo fe en la raza humana. ¿Usted también?

Saludos cordiales de Titti