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What is Tay-Sachs?

The Tay -Sachs disease is a devastating lipid metabolism disease, which unfortunately is incurable, and leads to death in a few years .

Tay-Sachs disease is a progressive neurological genetic disorder, which is caused by a defective gene (chromosome 15).

The two main problems with Tay -Sachs are too little or no HEX -A, and at the end too much of GM2 wast.


What is HEX-A?

Hexosaminidases are enzymes that terminal residues of N - Acetylglucosiden by hydrolysis ( cleavage of a chemical compound to water absorption) split off , and degrade them step by step . In humans, five proteins with hexosaminidase activity are known to occur in several isoforms and assemble to form enzyme complexes. Mutations in the HEXA gene are the cause of Tay -Sachs disease , and mutations in the gene HEXB are responsible for Sandhoff disease .

Die fünf Hexosaminidasen werden Hexosaminidase A bis D und S genannt. Hexosaminidase A, B und S sind Proteinkomplexe und werden beide aus Produkten der beiden Gene HEXA (Untereinheit α) und HEXB (Untereinheiten βA und βB) gebildet

 

Vereinfacht gesagt kann der Stoffwechsel das Enzym HEX-A nicht ausreichend produzieren, und ist dadurch nicht in der Lage die Stoffe, die die Zellen nicht mehr benötigen, aus dem Körper abzutransportieren. Daher wird dieser "Müll" (GM2 Abfall) in den Zellen eingelagert, und in Fett verwandelt. Die Zellen werden regelrecht zugefettet und verlieren nach und nach ihre Funktionen, bis sie dann absterben.

 

Was ist GM2?

Das Abfallprodukt heißt GM2. Es ist im Grunde ein großer komplizierter Strang, der zu groß und lang für eine Gehirnzelle ist. Das Hex-A Enzym bricht das GM2 in kleine Stränge, die von der Zelle verwendet werden können.

Wenn es zu wenig Hex-A Enzyme gibt, beginnen sich die großen GM2 Stränge zu sammeln (wie wenn der Müllwagen nie zu Ihrem Haus kommen würde). Da  nun zu viel Abfall anfällt, beginnt der Speicherbereich zu schwellen. Die Schwellung führt zu Fehlfunktionen der Zelle und diese stirbt schließlich ab. Verschiedene Enzyme und Abfallprodukte werden in verschiedenen Teilen des Körpers erzeugt. Hex-A und GM2 werden in Gehirnzellen erzeugt - das ist der Grund, warum Tay-Sachs in erster Linie eine neurologische Erkrankung ist.

 

 

 

Für das Tay-Sachs Syndrom gibt es zur Zeit keine Behandlungsmöglichkeiten und keine Chance auf Heilung. Die Schulmedizin kann lediglich die Symptome behandeln.

 

Es gibt 3 verschiedene Formen der Krankheit.

 

  • infantiles Tay-Sachs Syndrom (Typ1 = frühkindliches Tay-Sachs)

  • juveniles Tay-Sachs Syndrom (Typ 2 = spät beginnendes Tay-Sachs)

  • Late On-Set Tay-Sachs Syndrom (Typ 3 = adultes Tay-Sachs)

 

 

Infantiles Tay-Sachs Syndrom

  • Häufigste Form der Krankheit

  • Erste Symptome treten im Alter von 3 - 6 Monaten auf

  • HEX-A Enzym ist wenig bis gar nicht vorhanden, daher der schnelle Verlauf

  • Lebenserwartung: 3 - 5 Jahre

 

Symptome

  • muskuläre Hypotonie (die Muskelspannung wird immer weniger)

  • Cherry Red Spot (Kirschroter Fleck auf der Makula/Netzhaut - kommt von der Einlagerung in den Zellen)           

  • Schreckreaktionen auf Schallreize (häufiges erschrecken) 

  • Psychomotorischer Abbau, Verlust des Sitz- und Stehvermögens

  • Zunehmende Schwerhörigkeit, Blindheit, Paresen sowie Spasmen

  • Puppenartiges Gesicht mit blasser durchscheinender Haut, langen Augenwimpern, feinem Haar und auffällig rosafarbener Gesichtsfarbe

 

Verlauf

Die Kinder verlieren die Fähigkeit zu

  • Sehen und hören

  • Stehen, Sitzen und ihren Kopf zu halten

  • Sich zu bewegen

  • Spielen und zu essen (wegen Speichelbildung)

  • Lachen und mit Tränen zu weinen

  • Im Falle einer Erkältung den Schleim abzuhusten

     

 Stattdessen bekommen Sie

  • Epileptische Anfälle, die im Laufe der Zeit immer schlimmer und häufiger werden

  • Spasmen (eine erhöhte Eigenspannung der Skelettmuskulatur)

  • Eine Magensonde und später auch Sauerstoff

  • Paresen (unvollständige Lähmungen)

 

Prognose

Die Kinder versterben in der Regel bis zum 3. Lebensjahr aufgrund einer wiederkehrenden Lungenentzündung.

 

Juveniles Tay-Sachs Syndrom

 

  • Beginn der Symptome im Alter von 2-6 Jahren

  • Gangataxie (breitbeiniger, unsicheren Gang )

  • Verhaltensstörungen

  • zunehmendem Verlust der intellektuellen Leistungen

  • Der Aktivitätsmangel des HEX-A Enzyms ist weniger stark ausgeprägt als bei der infantilen Form.

 

Mit etwa 15 Jahren sterben die Patienten im Stadium einer Dezerebration (Unterbrechung der Hirnrinden-Hirnstamm-Verbindung: kompletter Ausfall der Großhirnfunktion)

 

Late On Set Tay-Sachs Syndrom (Adulte Form)

 

  • kann mit etwa 10 Jahren beginnen, wird aber oft erst im Erwachsenenalter diagnostiziert (zwischen 20. und 30. Lebensjahr)

  • Die geistigen Leistungen und das Verhalten sind nur bei einem Teil dieser Patienten beeinträchtigt.

  • Die Aktivität des HEX-A Enzyms ist verringert.

  • Rede und Schluckbeschwerden, Unsicherer Gang, Spastik, kognitive Abnahme und psychiatrischen Erkrankungen, insbesondere Schizophrenie-ähnliche Psychose

 

Late On Set Tay-Sachs ist in der Regel nicht tödlich.

 

 

Ein großes Herz für kleine Hände

Honormembers - Kids of the sun

Here you can meet some of our still living kids and learn more about their story.


Isabel Fernández Domínguez


Isabel was born in Buenos Aires in February of 2009.

She is now 4 and a half years old.

Isabel suffers from Tay-Sachs disease, juvenile form.

She lives with her parents Beatriz and Martin in Madrid.


Until the age of two Isabel was a healthy little girl. She had the life that any other child could have: school, little friends at park, holidays and trips to Spain to visit her family. And always a big smile on her face.


Around the time of her second birthday we started to watch weird things: she began to twist her right foot while walking, started falling, her development of language slowed down… This was the beginning of more than one year of diagnostic odyssey. While her deterioration was evident, many doctors were involved searching for an answer that seems would never arrive. She started to receive some therapies to help her to recover her lost skills.On 6th of august of 2012, the answered came unexpectedly from one of her many pending results, in a rainy afternoon. A disease discarded in the past, presented in an uncommon mutation, a strange and unknown word, was the answer: TAY-SACHS.
Since then this is our life: help Isabel to have the best possible life, be with her through all the terrific changes this disease brings, cope with all this, as parents, as family, as human beings. Love her in a fiercely way because we understand that today she is with us. And also understand that there is another world apart from our comfortable past lives, in which many people suffer from rare diseases. A world that needs from people like us, family, friends, to be put under the spotlight of the society to raise awareness.  People, medical researchers, doctors and health care givers, Governments, politics parties…. All the society must know that we can avoid more ill children if we work together for it.Since then, as a mother, this is my fight. Isabel is being followed by a marvelous team of specialist in England. At the end of our first visit, the leader of this team looked at my eyes and said this to me: “I don’t believe in God, but I believe in miracles. We will do our best to look for a miracle for Isabel”.

That is my hope. A miracle for Isabel and for all the children that suffers from Tay-Sachs, or other rare diseases.  And her endless smile is the inspiration that encourages me to continue with this struggle every day.

Visit Mama Beatriz's Blog about Isabels Life: talvezisabel.blogspot.com


Gustavo Santos Silva


This year he celebrated his 7th Birthday! 

When he was 4 years old, he received the terrible diagnosis:

Juvenile Tay-Sachs syndrome.

(Life expectancy is about 6 - 15 years)

He lives with his family in São Paulo, Brazil.

 

His mother Rute was very afraid that he would not live to see his seventh birthday, but Gustavo is fighting bravely and did not left them!

This is what his mother Rute wants to share with you:

Live intensely.

Every second of each day, at any time.

Alexa "Lexi" Gordon

Was born on March 30, 2011.

She is now 29 months old.

Lexi suffers from Tay-Sachs syndrome.

She lives with her parents Tracy and Brian in Virginia, USA.

Lexi's story:

When Lexi was 12 months old, she was diagnosed with autism because her development was lagging behind. At 14 months she had a 15 minute seizure and was flown to the Children's Hospital in DC.


This has changed our lives forever. After an MRI and many blood tests, finally she got the correct diagnosis, Tay-Sachs. There is no cure for this disease. The symptoms that the disease brings with it are paralysis, deafness, blindness and death. One day you have to put a feeding tube in and that will be the beginning of the end. It has a lifespan of only 3 to 5 years. She is now 21 months old.

Please pray, lights candles, our little girl that God gives a miracle. Thank you and God bless! The Gordon Family

Brook Hubbard


was born on 24 Born November 2010,

And is now 35 months old.

She suffers from Tay-Sachs syndrome.

Brook lives with her mother Kate and her brother Jake in New Hampshire, USA.

 

This is what Brooks Mum Kate wants to share with you:

The July 23, 2012, I will never forget. The day we got the devastating diagnosis. My baby Brook is suffering from Tay-Sachs syndrome and has to live only a few years. The year before we thought that she would suffer from Rett syndrome, but after an appointment at the eye doctor, where they discovered the cherry red spot on Brooks retina , it was clear that the diagnosis was wrong. Brook is loved by so many people here, her brother Jake adores her!

We enjoy every second with each other and pray every day for a further day as three.

Brielle Emma Walters


Brielle was born on October 17, 2009.

She is now 4 years old.

Brielle suffers from Tay -Sachs syndrome. Infantlie form.

She lives with her parents Ashley and Brian in Beloit , Wisconsin. United States.

 

When Brielle was 14 and a half months old, they got the diagnosis of  infantile Tay -Sachs disease , after 5 months with blood tests and examinations. For parents, a world collapsed :

We could not believe it. This is not fair ! Only 10-15 children are diagnosed each year , why God chose Brielle ? Why our baby ? Our heart felt as if it broke into a thousand pieces .

Every hope and every dream of a future for Brielle , were destroyed.

Brielles parents Ashley and Brian started an organization to care for their financing , and to support the research .

Since the life of children suffering from Tay -Sachs is very limited ( average life is 3 years ) decided Brielles mom Ashley to make a photo of Brielle every day . Die images can be viewed on their website and on Facebook.

http://www.battleforbrielle.org/

http://www.facebook.com/pages/Battle-for-Brielle/291874260830100?ref=ts&fref=ts

Ruby Backus

Ruby and her twin brother Sam are IVF babies , and were born on June 22, 2010.

They live in Kidderminster , United Kingdom.

Ruby suffers from Sandhoff disease , her brother Sam is completely healthy .

 

Her mom Nikki would like to share with you this:

The happiest day of my life was when I found out that I am expecting twins. I loved Ruby and her brother for a long time , long before they were born. And then they came to the world and the love that I felt was immense. As Sandhoff disease was diagnosed at Ruby , I could not believe it even though I wanted and love her so much, she will be taken from me. It is heartbreaking to see her everyday struggling with things - eat, move , see, breathe. It is still heartbreaking to see how her brother grow and develop , and to know that she should be equal.

 

I wonder how she would be if she would not fight such a devastating disease .

I have to smile at the same time and fight back the tears when Ruby's brother explains how her feeding tube works , or how he explains when she has to visit special doctors to help her feel better.

Or how excited he is when he puts a toy in Ruby's hand or a piece of chocolate to her lips.

To care for Ruby has changed me , makes me humble, I feel privileged to be able to care for her.

While I'm fighting against her forecast with all I have, I have reached courage through her courage , she is an inspiration and I am so proud to be her mom.

Where has your smile gone
sweet child of mine
i fear i took it for granted when i saw it all the time

your laughter, your expressions,
your bright eyes too
have been taken far away locked somewhere deep inside of you

the problem sounds so simple
it must be easy to fix
but the medicine isn't there yet
i have to watch as you get sick

but we'll fight me and you
and the rest of your family too
we wont stop up until you smile again
we'll never give up and neither must you

By Nikki Backus –for Ruby

Haylie Irran


was born on May 13, 2010.

She lives with her parents Eva and Zivan in Mondsee .

Haylie suffers from Tay -Sachs disease (infantile Form/Typ1).

She is now 3 years and 5 months old.

 

What Haylies mom would like to share with you :

To care for a child with such a devastating disease is not always easy and requires much energy . But to be able to have Haylie with us is the most beautiful gift in the world, and we are grateful for each day with her. She has taught us to be open, shows us every day how strong she is and how much power she has. She is fighting so bravely against this disease and shows us so many times that she wants to live. Through her we have learned to have hope. Hope for recovery. Hope for a cure.

Even if the medicine teaches us something else.

Haylies road is not at its end.

I pray every night for a miracle, and eventually had to recognize that I have already obtained this miracle.

Haylie is my miracle.

The fact that she exists and that we can be her parents, and are able to receive her endless love, is my miracle. And for that I 'm grateful every day.

Love your children so much you can, tell them every single day anew how much you love them.

And do not take their health for granted.

Enjoy spending time with them to the fullest and looking at their life as a gift.

Because every life, no matter how limited its time may be, is a gift.


Visit Haylie website: http://hilfefuerhaylie.jimdo.com/ or http://www.facebook.com/HilfefuerHaylie